Doença respiratória rara, geneticamente heterogênea, principalmente caracterizada por doença crônica do trato respiratório superior e inferior. Aproximadamente metade dos pacientes com DCP apresentam um defeito de lateralidade de órgão (situs inversus totalis ou situs ambiguus/heterotaxia).
Introdução
O que você precisa saber de cara
A disquinesia ciliar primária é um distúrbio caracterizado por infecções crônicas do trato respiratório, órgãos internos posicionados de forma anormal e dificuldades para ter filhos biológicos (fertilidade reduzida). Os sinais e sintomas desta condição são causados por cílios e flagelos anormais. Cílios são projeções microscópicas em forma de dedo que se projetam da superfície das células. Os cílios ajudam as células a se moverem para onde são necessárias; eles também ajudam a mover substâncias dentro do corpo. Flagelos, que são semelhantes aos cílios, são estruturas em forma de cauda que impulsionam as células espermáticas para a frente.
Sem cílios que funcionem adequadamente, pessoas com disquinesia ciliar primária frequentemente têm problemas para remover fluidos e partículas das vias aéreas. A maioria dos bebês com disquinesia ciliar primária apresenta problemas respiratórios ao nascer (distress respiratório neonatal), o que sugere que os cílios também desempenham um papel importante na limpeza do fluido fetal dos pulmões. Crianças com disquinesia ciliar primária tipicamente têm congestão nasal ao longo do ano e tosse crônica que começa no primeiro ano de vida. Como os indivíduos afetados também têm dificuldade em remover bactérias do trato respiratório, podem apresentar infecções frequentes do trato respiratório a partir da primeira infância. Infecções crônicas do trato respiratório podem resultar em uma condição chamada bronquiectasia, que danifica as passagens que conduzem da traqueia aos pulmões (brônquios). A bronquiectasia pode causar problemas respiratórios potencialmente mortais.
Outra característica da disquinesia ciliar primária são infecções recorrentes de ouvido (otite média), especialmente em crianças pequenas. A otite média pode levar à perda auditiva permanente se não for tratada. Essas infecções de ouvido provavelmente estão relacionadas a cílios anormais no ouvido interno.
Cerca de 40 por cento das pessoas com disquinesia ciliar primária apresentam uma inversão em espelho de seus órgãos internos (situs inversus totalis). Por exemplo, o coração fica no lado direito do corpo em vez do lado esquerdo nesses indivíduos. Essas anomalias surgem cedo no desenvolvimento embrionário, quando as diferenças entre os lados esquerdo e direito do corpo são estabelecidas. O situs inversus totalis normalmente não causa problemas de saúde adicionais. Quando alguém com disquinesia ciliar primária tem situs inversus totalis, costuma‑se dizer que essa pessoa tem síndrome de Kartagener.
A síndrome de heterotaxia (às vezes também chamada de situs ambíguo) é outro distúrbio do desenvolvimento de órgãos que pode estar associado à disquinesia ciliar primária. Aproximadamente 9 a 12 por cento das pessoas com disquinesia ciliar primária têm síndrome de heterotaxia, que se caracteriza por anomalias do coração, fígado, intestinos ou baço. Esses órgãos podem ser estruturalmente anormais ou estar posicionados de forma inadequada. Além disso, os indivíduos afetados podem não ter baço (asplenia) ou ter múltiplos baços (polissplenia). A síndrome de heterotaxia também resulta de problemas na definição dos lados esquerdo e direito do corpo durante o desenvolvimento embrionário. A gravidade da síndrome de heterotaxia varia amplamente entre os indivíduos afetados, e pessoas com essa condição podem ter anomalias cardíacas que podem ser ameaçadoras à vida.
A disquinesia ciliar primária também pode causar problemas de fertilidade. Movimentos vigorosos dos flagelos são necessários para impulsionar as células espermáticas em direção ao óvulo. Como o esperma não se move adequadamente, os homens com disquinesia ciliar primária frequentemente apresentam fertilidade reduzida. A fertilidade reduzida também ocorre em algumas mulheres afetadas e provavelmente se deve a cílios anormais nas trompas de Falópio, o que prejudica o deslocamento do óvulo do ovário para o útero.
Em casos raros, indivíduos com disquinesia ciliar primária apresentam acúmulo de fluido no cérebro (hidrocefalia). Os pesquisadores ainda não compreendem completamente por que algumas pessoas com disquinesia ciliar primária desenvolvem hidrocefalia.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoDoença respiratória rara, geneticamente heterogênea, principalmente caracterizada por doença crônica do trato respiratório superior e inferior. Aproximadamente metade dos pacientes com DCP apresentam um defeito de lateralidade de órgão (situs inversus totalis ou situs ambiguus/heterotaxia).
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Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 75 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 181 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
56 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, X-linked recessive.
Curadoria gene-doença
fontes oficiaisCiliary dyskinesia, primary, 2
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Ciliary dyskinesia, primary, 47, and lissencephaly
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD47 is an autosomal recessive form characterized by onset soon after birth or in early childhood. Affected individuals also have neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum. No situs abnormalities have been observed.
Spermatogenic failure 98
An autosomal recessive, male infertility disorder characterized by abnormal sperm morphology, and reduced sperm concentration and motility.
Stromme syndrome
An autosomal recessive congenital disorder characterized by intestinal atresia, ocular anomalies, microcephaly, and renal and cardiac abnormalities in some patients. The disease has features of a ciliopathy, and lethality in early childhood is observed in severe cases.
Ciliary dyskinesia, primary, 15
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Ciliary dyskinesia, primary, 34
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD34 inheritance is autosomal recessive.
Ciliary dyskinesia, primary, 29
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD29 patients do not exhibit situs inversus, a congenital abnormality in which visceral organs are opposite to their normal positions (situs solitus) due to lateral transposition.
Ciliary dyskinesia, primary, 44
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD44 inheritance is autosomal recessive.
Ciliary dyskinesia, primary, 30
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Ciliary dyskinesia, primary, 32
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia.
Ciliary dyskinesia, primary, 14
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Ciliary dyskinesia, primary, 41
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD41 inheritance is autosomal recessive.
Ciliary dyskinesia, primary, 22
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Ciliary dyskinesia, primary, 5
An autosomal recessive form of primary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD5 is characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus.
Ciliary dyskinesia, primary, 16
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Ciliary dyskinesia, primary, 10
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Ciliary dyskinesia, primary, 46
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD46 is an autosomal recessive form. No situs abnormalities have been observed.
Ciliary dyskinesia, primary, 42
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Other more variable features may include infertility and mild hydrocephalus. Patients with this form of the disorder do not have situs abnormalities. CILD42 inheritance is autosomal recessive.
Orofaciodigital syndrome 1
A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD1 is X-linked dominant syndrome, lethal in males. Craniofacial findings consist of facial asymmetry, hypertelorism, median cleft, or pseudocleft of the upper lip, hypoplasia of the alae nasi, oral clefts and abnormal frenulea, tongue anomalies (clefting, cysts, hamartoma), and anomalous dentition involving missing or extra teeth. Asymmetric brachydactyly and/or syndactyly of the fingers and toes occur frequently. Approximately 50% of OFD1 females have some degree of intellectual disability. Some patients have structural central nervous system anomalies such as agenesis of the corpus callosum, cerebellar agenesis, or a Dandy-Walker malformation. Patients with OFD1 can develop fibrocystic disease of the liver and pancreas, in addition to polycystic kidneys.
Ciliary dyskinesia, primary, 1
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Ciliary dyskinesia, primary, 12
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Ciliary dyskinesia, primary, 17
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Ciliary dyskinesia, primary, 49, without situs inversus
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD49 is an autosomal recessive form without situs abnormalities. Affected males also show infertility due to defective flagellar morphology and function.
Ciliary dyskinesia, primary, 18
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Ciliary dyskinesia, primary, 48, without situs inversus
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD48 is an autosomal recessive form. No situs abnormalities have been observed.
Ciliary dyskinesia, primary, 45
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD45 is an autosomal recessive form characterized by onset of symptoms in infancy or early childhood. Male patients have infertility due to immotile sperm.
Ciliary dyskinesia, primary, 11
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Ciliary dyskinesia, primary, 3
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Ciliary dyskinesia, primary, 19
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Spermatogenic failure 18
An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF18 patients present with primary infertility and multiple morphological abnormalities of sperm flagella that result in impaired sperm mobility. Abnormalities include absent, short, coiled, bent, and irregular flagella. SPGF18 inheritance is autosomal recessive.
Ciliary dyskinesia, primary, 53
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD53 is an autosomal recessive form characterized by randomization of the left-right body asymmetry and respiratory symptoms.
Ciliary dyskinesia, primary, 9
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Ciliary dyskinesia, primary, 52
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD52 is an autosomal recessive form characterized by laterality defects, and mild respiratory symptoms.
Spermatogenic failure 43
An autosomal recessive infertility disorder characterized by asthenospermia due to multiple morphologic abnormalities of sperm flagella, including short, absent, coiled, and bent flagella.
Retinitis pigmentosa 3
An X-linked retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe retinitis pigmentosa. Heterozygous women can manifest a form of choroidoretinal degeneration which is distinguished from other types by the absence of visual defects in the presence of a brilliant, scintillating, golden-hued, patchy appearance most striking around the macula, called a tapetal-like retinal reflex.
Ciliary dyskinesia, primary, 26
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Ciliary dyskinesia, primary, 39
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD39 inheritance is autosomal recessive.
Ciliary dyskinesia, primary, 33
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD33 inheritance is autosomal recessive.
Ciliary dyskinesia, primary, 50
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD50 is an autosomal recessive form characterized by chronic sinusitis and bronchitis as well as male infertility. Patient sperm have markedly reduced progressive motility, and multiple morphologic abnormalities of the flagella.
Ciliary dyskinesia, primary, 20
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Unlike other forms of CILD characterized by reduced fertility, patients with CILD20 do not appear to be infertile.
Ciliary dyskinesia, primary, 23
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Ciliary dyskinesia, primary, 27
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Ciliary dyskinesia, primary, 28
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Ciliary dyskinesia, primary, 51
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD51 is an autosomal recessive form characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella, resulting in severely reduced progressive motility. Affected individuals have recurrent upper and lower respiratory infections, and some exhibit dextrocardia and/or situs inversus.
Dyslexia 1
A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability.
Ciliary dyskinesia, primary, 7
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Ciliary dyskinesia, primary, 35
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD35 inheritance is autosomal recessive.
Ciliary dyskinesia, primary, 13
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. At ultrastructural level, CILD13 is characterized by a marked reduction or absence of both dynein arms from the patients cilia.
Ciliary dyskinesia, primary, 40
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD40 inheritance is autosomal recessive.
Esophageal cancer
A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage.
Ciliary dyskinesia, primary, 24
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Situs inversus is not observed in CILD24 patients.
Ciliary dyskinesia, primary, 38
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD38 inheritance is autosomal recessive.
Ciliary dyskinesia, primary, 36, X-linked
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD36 inheritance is X-linked recessive. About half of CILD36 patients have laterality defects due to ciliary dysfunction at the embryonic node.
Allergic rhinitis
A common disease with complex inheritance characterized by mucosal inflammation caused by allergen exposure.
Ciliary dyskinesia, primary, 6
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Ciliary dyskinesia, primary, 55
An autosomal recessive form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Male infertility may result from reduced motility of spermatozoa. Some CILD55 affected individuals also exhibit obstructive azoospermia.
Medicamentos e terapias
Mecanismo: Cystic fibrosis transmembrane conductance regulator positive modulator
Mecanismo: Amiloride-sensitive sodium channel, ENaC blocker
Mecanismo: Beta-2 adrenergic receptor agonist
Variantes genéticas (ClinVar)
219 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 28.486 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
35 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Discinesia ciliar primária
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Mostrando amostra de 200 publicações de um total de 1.525
Small molecule-directed differentiation of submerged-cultured human nasal airway epithelia for respiratory disease modeling.
Submerged cultures of undifferentiated or transformed epithelial cells are widely used in respiratory research due to their ease of use and scalability. However, these systems fail to capture the cellular diversity of the human airway epithelium. Here, we describe a submerged differentiation model using cryopreserved human nasal epithelial cells obtained via minimally invasive brushings. By targeting Notch and BMP signaling with small molecule inhibitors, we differentiate these cells into complex epithelial cultures containing basal, secretory, and ciliated cell types on standard plastic cultureware. This method supports scalable culture of both 2D epithelial monolayers and 3D organoids and is applied to disease modeling in primary ciliary dyskinesia, cystic fibrosis, and respiratory syncytial virus infection. The resulting system enables scalable assessment of disease-relevant epithelial functions in respiratory research.
Deuterosomal cells are the responsible lineage for multiciliogenesis in human airway differentiation.
Multiciliated cells (MCCs) are pivotal in airway defense via their motile cilia to eliminate inhaled pathogens and particles. Genetic variants in primary ciliary dyskinesia (PCD) disrupt ciliary function, resulting in chronic respiratory infections. The formation of MCCs requires centriole amplification mediated by non-membranous organelles called deuterosomes, whose regulatory mechanisms remain poorly characterized in humans. Single-cell transcriptomic analyses have identified "deuterosomal cells" (DCs), a transient cell population that emerges during multiciliogenesis. DCs are challenging to investigate owing to their scarcity. To elucidate the role of DCs, iPSC-derived airway epithelial cells were used to identify CD36 as a specific surface marker. Furthermore, iPSCs were established from a patient with PCD harboring Cyclin O (CCNO) variants, along with gene-corrected controls. Patient-derived iPSCs demonstrated defective MCC differentiation and aberrant DCs attributed to CCNO deficiency. This study provides a human iPSC-based platform for investigating the mechanisms underlying airway multiciliogenesis and PCD modeling.
Comparison of spirometry, impulse oscillometry, and multiple breath washout in children with primary ciliary dyskinesia.
Primary ciliary dyskinesia (PCD) is associated with ventilation defects and heterogeneous impairment of pulmonary function. Spirometry alone may underestimate PCD severity and complexity. This study aimed to evaluate spirometry, multiple breath washout (MBW), and impulse oscillometry (IOS) in children with PCD and healthy controls. In this cross-sectional, prospective study, participants included children aged 6-18 years with PCD and healthy age-matched controls. Pulmonary function tests using MBW, IOS, and spirometry were conducted on the same day for all participants. Thirty-two children with PCD (cwPCD) (median age 16.5 years) and 44 age-matched healthy controls (median age 15.7 years) were studied. PCD was associated with lower forced expiratory volume in 1 (FEV1) percent predicted (pp), forced vital capacity (FVC) pp, FEV1/FVC, reactance 5 (X5); as well as higher resistance 5 (R5), R10, R15, R20, resonance frequency (Fres) and lung clearance index (LCI) 2.5% mean values (p < 0.05 for all). Abnormal LCI 2.5% was found in 46.5% of patients with predicted FEV1 pp > 80%. Significant inverse correlations were observed between LCI 2.5% and FEV1 pp (p < 0.001, r: -0.62), FVC pp (p = 0.004, r: -0.49), FEV1/FVC (p = 0.002, r: -0.52) in PCD patients. This is one of the few studies comparing MBW, IOS, and spirometry in cwPCD. The study has shown that there are significant differences in spirometry and MBW between cwPCD and healthy controls. MBW can detect airway anomalies earlier than spirometry and may be used in follow-up as an alternative pulmonary function test in cwPCD.
Etiologies of chronic cough in children: a two-year experience from a tertiary pediatric pulmonology center.
Chronic cough is a common yet diagnostically challenging symptom in pediatric pulmonology. This study aimed to evaluate the etiologies of chronic cough in children referred to a tertiary center and to analyze the relationship between specific cough characteristics and final diagnoses. This retrospective study evaluated patients presenting with chronic cough (duration >4 weeks) at a tertiary pediatric pulmonology center. Demographic data, cough characteristics (wet vs. dry), and diagnostic findings were analyzed. A total of 62 patients were included. A specific etiology was identified in 95.1% of the patients. Asthma and reactive airway disease were the most common diagnoses (45.2%), predominantly associated with dry cough. Notably, we observed an unexpectedly high prevalence of primary ciliary dyskinesia (PCD) (19.4%) and cystic fibrosis (CF) (6.5%), particularly in the wet cough group. This distribution differs significantly from primary care studies, reflecting the selected, refractory nature of patients referred to our tertiary center. Protracted bacterial bronchitis (PBB) was identified in only 3.2% of cases. While asthma remains the leading cause of dry cough, structural lung diseases such as PCD and CF are major etiologies in children presenting with chronic wet cough in tertiary settings. The high rate of these serious conditions underscores the need for early and detailed investigation in patients unresponsive to standard therapies, rather than repeated empirical treatments for presumed PBB.
Genetic analysis of children with suspected immunodeficiency: mimickers of inborn errors of immunity.
Inborn errors of immunity (IEI) comprise a heterogeneous group of disorders with diverse clinical manifestations. In this study, we aimed to evaluate genetic findings in patients with suspected IEI and to assess the contribution of next-generation sequencing (NGS) in identifying both IEI-related and non-IEI-related genetic variants. Between January 2020 and January 2025, 91 pediatric patients (0-18 years) referred for suspected IEI were retrospectively analyzed. Demographic data, clinical features, immunological profiles, and genetic results were reviewed, including single-gene sequencing, fluorescence in situ hybridization (FISH), targeted gene panels (TGP), and whole-exome sequencing (WES). Patients analyzed by NGS were classified into three categories according to detected variants: IEI-related, non-IEI-related, and undetected disease-causing variant. A total of 79 patients underwent NGS-based genetic testing. The mean age was 4.37 ± 5.09 years. WES was performed in 40 patients (50.6%) and TGP in 39 (49.4%). Pathogenic variants linked to IEI-related were detected in 28 patients (35.4%), whereas non-IEI-related pathogenic variants were identified in 12 (15.2%). The remaining 39 patients (49.4%) had undetected disease-causing variants. The diagnoses of patients carrying pathogenic variants unrelated to IEI included primary ciliary dyskinesia, Ellis-van Creveld syndrome, desmoglein-1 deficiency, and others. Conclusion: Our study highlights the importance of genetic testing in the differential diagnosis of IEI and provides evidence supporting its role in identifying mixed IEI phenotypes. Comprehensive interpretation of genetic results within a multidisciplinary clinical framework is essential for accurate diagnosis, appropriate management, and effective genetic counseling.
Publicações recentes
Estimating nasal nitric oxide from measured fractional exhaled nitric oxide and nasal fractional exhaled nitric oxide.
📖 RevisãoVentilation-perfusion Scan: A Functional Imaging Approach to Regional Lung Disease in Primary Ciliary Dyskinesia.
Lung ultrasound in children with primary ciliary dyskinesia: is it able to detect structural and functional impairments?
Cilia Dynamics in Primary Ciliary Dyskinesia: A Biophysical Characterization of the RSPH4A Founder Variant.
Pseudo-Bartter Syndrome in a Pancreatic Insufficient Infant With CFTR, DNAH9, LYST and G6PD Variants.
📚 EuropePMC1.506 artigos no totalmostrando 198
Small molecule-directed differentiation of submerged-cultured human nasal airway epithelia for respiratory disease modeling.
Cell reports. MedicineResearch Hotspots and Trends in Ciliopathies: A Bibliometric and Visualization Analysis.
BioMed research internationalDeuterosomal cells are the responsible lineage for multiciliogenesis in human airway differentiation.
Stem cell reportsUtility of hyperpolarised xenon-129 magnetic resonance imaging in primary ciliary dyskinesia.
ERJ open researchQuantitative analysis of mucociliary activity by computational high-speed video reflection microscopy.
European biophysics journal : EBJComparison of spirometry, impulse oscillometry, and multiple breath washout in children with primary ciliary dyskinesia.
Frontiers in pediatricsCiliary Beat Frequency and Pattern: An Accessible Tool for the Screening of Primary Ciliary Dyskinesia.
Diagnostics (Basel, Switzerland)Etiologies of chronic cough in children: a two-year experience from a tertiary pediatric pulmonology center.
Turkish journal of medical sciencesPCDSOS: a novel clinical predictive tool for screening primary ciliary dyskinesia in adult bronchiectasis patients-a multicenter derivation and external validation study.
BMC medicineA novel CFAP57 nonsense mutation causes asthenozoospermia in a consanguineous Emirati family.
Molecular biology reportsCase report: the unusual association of Kartagener's syndrome and systemic lupus erythematosus.
Annals of medicine and surgery (2012)An Unusual Case of Situs Inversus in a Premature Neonate.
CureusGenetic analysis of children with suspected immunodeficiency: mimickers of inborn errors of immunity.
European journal of pediatricsCFTR activity in nasal potential difference of adults with idiopathic bronchiectasis.
Respiratory researchUnraveling the Complexities of Kartagener's Syndrome: A Case of Bronchiectasis, Isolated Dextrocardia, and Primary Ciliary Dyskinesia in an Adult With Chronic Respiratory Symptoms.
Clinical case reportsGenetic strategies for negative or variant of uncertain significance findings in exome sequencing in hereditary bronchiectasis: a case series.
Therapeutic advances in respiratory diseaseDefining Functional Correction Thresholds in Primary Ciliary Dyskinesia for Effective Gene Therapies.
bioRxiv : the preprint server for biologyOnset and Development of Chronic Rhinosinusitis from Infancy through Adolescence in Primary Ciliary Dyskinesia Detected by Longitudinal Magnetic Resonance Imaging.
Annals of the American Thoracic SocietyPhysical inactivity in chronic airways disease: an important candidate in the treatable traits paradigm.
European respiratory review : an official journal of the European Respiratory SocietyProphylactic antibiotics in chronic pediatric lung disease: balancing benefit, resistance, and future care models.
Expert review of respiratory medicineThe Clinico-radiological Perspective of Kartagener's Syndrome.
Annals of African medicineBiallelic DAW1 variants reveal tissue-specific role in heterotaxy without primary ciliary dyskinesia.
Research squareAn international collaborative initiative to screen primary ciliary dyskinesia with high-speed video microscopy and nasal nitric oxide at a tertiary referral centre in South India.
Lung India : official organ of Indian Chest SocietyBronchiectasis in a child with a homozygous DCDC2 gene mutation: A case report.
Journal of Taibah University Medical SciencesTwo Novel Compound Heterozygous Mutations of CFAP65 in a Pediatric Patient With Primary Ciliary Dyskinesia.
Pediatric pulmonologyPediatric Bronchiectasis Quality-of-Life Questionnaire-What Does the Literature Say?
Pediatric pulmonologyDNAH14 deficiency disrupts sperm annulus positioning and compromises offspring postnatal development.
Human reproduction (Oxford, England)Association of Single-Nucleotide Polymorphisms in Sweet Taste Perception and Intake Genes with Primary Ciliary Dyskinesia and Its Clinical Phenotypes.
International journal of molecular sciencesConcurrent mutations in DNAH5 and FOXE3 genes: a unique occurrence in infancy.
Anatomy & cell biologyThe CARMUCI Study Design: A Double-Blind, Cross-Over Sham-Controlled Trial of Indoor Air Purification in People With Cystic Fibrosis and Primary Ciliary Dyskinesia.
Pediatric pulmonologyCompound heterozygous DAW1 variants reveal tissue-specific roles in left-right patterning and congenital heart disease without primary ciliary dyskinesia.
medRxiv : the preprint server for health sciencesSurgical Management of Kartagener's Syndrome With Bronchiectasis in a Pediatric Patient: A Case Report on Right Lower Lung Lobectomy in a 9-Year-Old Female.
Clinical case reports[Analysis of DNAH11 gene variants and clinical characteristics of a Chinese pedigree affected with Primary ciliary dyskinesia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics[Key updates in the 2025 ERS/ATS guideline for the diagnosis of primary ciliary dyskinesia].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases[Expert consensus on diagnosis and treatment of adult primary ciliary dyskinesia (2025 edition)].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesSeasonal Variability in Nasal Nitric Oxide Measurements: The Role of the Respiratory Therapist in Primary Ciliary Dyskinesia Screening.
Respiratory carePapillary urothelial tumor of low malignant potential in a pediatric patient: case associated with Poland syndrome.
Urology case reportsTidal Breathing Nasal Nitric Oxide Measurement as a Test for Primary Ciliary Dyskinesia in Young Children.
The European respiratory journalDextrocardia With Relapsing Cough in Newly Diagnosed Tuberculosis: A Case Report.
CureusA Rare Case of Co-occurring Fanconi Anemia and Primary Ciliary Dyskinesia.
Turkish journal of haematology : official journal of Turkish Society of HaematologySitus Inversus Totalis: A Case Report and Literature Review.
Clinical case reportsSputum from Individuals with Primary Ciliary Dyskinesia Drives M2-like Macrophage Polarization.
LungClinical characteristics and severity of primary ciliary dyskinesia caused by large homozygous deletion including exons 1-4 of DRC1: A multicenter retrospective cohort study.
Respiratory investigationChitayat Syndrome: A Rare Case of Respiratory Distress in a Preterm Infant.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietySuccessful Transcatheter Mitral Edge-to-Edge Repair in Patient With Situs Inversus Due to Kartagener Syndrome.
JACC. Case reportsMucociliary and cough clearance in primary ciliary dyskinesia as affected by mutations in RSPH1 or DNAH5.
ERJ open researchIncidence and predictors of self-reported pulmonary exacerbations in primary ciliary dyskinesia: an international prospective cohort study.
ERJ open researchPrimary ciliary dyskinesia: a national expert consensus statement on standards of care.
ERJ open researchGenetic aetiologies of bronchiectasis revisited: A new diagnosis of primary ciliary dyskinesia in adulthood.
Clinical medicine (London, England)Disorders of sex development associated with MPI and RSPH1 variants expand the phenotypic spectrum of CDG and PCD in Morocco.
Molecular biology reportsAllergic bronchopulmonary aspergillosis and Aspergillus-related airway diseases in bronchiectasis: a narrative review.
Journal of thoracic diseaseGlobal research trends and hotspots in bronchiectasis: a bibliometric analysis.
Journal of thoracic diseaseIdentification of a Novel DNAAF3 Variant in a 54-Year-Old Patient With Newly Diagnosed Primary Ciliary Dyskinesia (PCD).
Case reports in geneticsNovel homozygous C3orf67 gene variant associated with primary ciliary dyskinesia in a Saudi pediatric patient: A case report.
World journal of experimental medicineRecurrent pulmonary tuberculosis in a child with primary ciliary dyskinesia: a rare association.
Paediatrics and international child health[Clinical characteristics and genetic spectrum of adults with primary ciliary dyskinesia].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesCase Report: Minigene assays reveal a novel DNAAF6 intronic variant as the key etiology for primary ciliary dyskinesia.
Frontiers in geneticsLRRC56 deficiency cause motile ciliopathies in humans and mice.
Frontiers in geneticsVariant of uncertain significance in the DNAI1 gene in a child with typical primary ciliary dyskinesia phenotype.
Boletin medico del Hospital Infantil de MexicoLimitations of PICADAR as a diagnostic predictive tool for primary ciliary dyskinesia.
Frontiers in molecular biosciencesLarge and small airway remodelling in human end-stage primary ciliary dyskinesia lungs.
The European respiratory journalA High-Resolution Subcellular Map of Proteins in Cells with Motile Cilia.
Journal of proteome researchThe kinesin-4 protein KIF27 forms a cytoskeletal scaffold at the transition zone to promote motile cilia structural integrity.
Proceedings of the National Academy of Sciences of the United States of AmericaPatients' research priorities and participation in primary ciliary dyskinesia research.
BMJ open respiratory researchExome sequencing reanalysis identifies a novel likely pathogenic CFAP54 variant and expands the phenotypic and genotypic spectrum of primary ciliary dyskinesia.
Frontiers in medicineHeterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia.
International journal of molecular sciencesJHY enables the transition from switchable to fixed ciliary waveforms in metazoan evolution.
EMBO reportsTaste and Smell Disorders in Children and Young Adults With Cystic Fibrosis and Primary Ciliary Dyskinesia-A Prospective Comparative Study.
Pediatric pulmonologyLong-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia.
Case reports in geneticsExpanding the phenotypic spectrum associated with CFAP43 mutations: a case report of familial male infertility with respiratory manifestations.
Frontiers in reproductive healthKartagener syndrome rarely revealed by chronic diarrhea in an adult: A case report.
Radiology case reportsComparative Single-Cell Transcriptomics Uncovers Shared and Distinct Molecular Signatures in Cystic Fibrosis and Primary Ciliary Dyskinesia.
bioRxiv : the preprint server for biologyMultiple Breath Washout in Primary Ciliary Dyskinesia: Potential for Lung Disease Monitoring.
Pediatric pulmonologyOverlapping Clinical Phenotypes in Patients With Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome.
PediatricsLate diagnosis of Kartagener syndrome in a 38-year-old female presenting with palpitations in a resource-limited emergency department.
Oxford medical case reportsMachine Learning Analysis of Cilia-Driven Particle Transport Distinguishes Primary Ciliary Dyskinesia Cilia from Normal Cilia.
bioRxiv : the preprint server for biologyPrevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar.
Clinical geneticsBone Health in Young Individuals with Primary Ciliary Dyskinesia: Insights from a Comparison with Cystic Fibrosis and Healthy Controls.
Hormone research in paediatricsPhysical and functional interaction of the ciliopathy proteins Lrrc56 and Odad3 control deployment of axonemal dyneins in vertebrate multiciliated cells.
Disease models & mechanismsBeyond bacteria and breaking the norm: Pulmonary mucormycosis due to Absidia corymbifera in a child with primary ciliary dyskinesia.
The Journal of international medical researchCystic Fibrosis and Primary Ciliary Dyskinesia Share Extensive Similarities: Is It Time to Place Them Under a Common Umbrella?
Pediatric pulmonologyNew Treatments Are Urgently Needed for Patients With All Primary Ciliary Dyskinesia Genotypes.
Pediatric pulmonologyOral Health Status and Oral Health-Related Quality of Life in Children With Primary Ciliary Dyskinesia.
Pediatric pulmonologyElectrochemical nasal nitric oxide measurement during laryngeal mask ventilation as primary ciliary dyskinesia screening.
ERJ open researchConsiderations in the Diagnosis and Management of Bronchiectasis in Older Adults.
Clinics in geriatric medicineImproved Lung Function with Home Oscillation and Lung Expansion Therapy in Children: A Case Series.
Pediatric allergy, immunology, and pulmonologyPhysiological responses to cardiopulmonary and field exercise tests in primary ciliary dyskinesia compared with healthy peers.
European journal of applied physiologyRare Pediatric Pulmonary Diseases: Insights from a Survey of Pediatric Pulmonologists in German-Speaking Countries.
Klinische PadiatrieKartagener Syndrome Complicated by Middle and Lower Lobar Mucinous Adenocarcinoma in the Left Lung.
Annals of thoracic and cardiovascular surgery : official journal of the Association of Thoracic and Cardiovascular Surgeons of AsiaStructural diversity and unity amongst axonemal dynein assembly factors.
Journal of cell sciencePhase-resolved functional lung (PREFUL) MRI provides unique insight into response to bilobectomy in a child with primary ciliary dyskinesia.
ThoraxChallenges in postoperative management of a patient with primary ciliary dyskinesia and Joubert syndrome and related disorders with congenital heart disease.
BMJ case reportsArtificial intelligence in paediatric respiratory medicine.
Paediatric respiratory reviewsDiagnostic utility of standardized assessment of ciliary ultrastructure by transmission electron microscopy in primary ciliary dyskinesia: a Japanese perspective.
Respiratory investigationInsights into sinonasal disease in patients with primary ciliary dyskinesia.
Expert review of respiratory medicinePrimary Ciliary Dyskinesia-Current Diagnostic and Therapeutic Approach.
Journal of clinical medicineField Tests for Assessing Functional Capacity in Children with Chronic Lung Diseases Other than Asthma: A Scoping Review.
Healthcare (Basel, Switzerland)Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms.
Orphanet journal of rare diseasesFeasibility of machine learning analysis for the identification of patients with possible primary ciliary dyskinesia.
Orphanet journal of rare diseasesCCDC39 Mutation-Related Primary Ciliary Dyskinesia with Congenitally Corrected Transposition of the Great Arteries: A Case Report.
The American journal of case reportsClinical, phenotype and genotype correlations in primary ciliary dyskinesia suspected children in Egypt.
Frontiers in molecular biosciencesTowards a practical tool to identify HYDIN genotype using high-speed videomicroscopy.
ThoraxBiallelic c.2709del and c.3020T>G cause DNAH11-related primary ciliary dyskinesia presenting with Kartagener syndrome: Possible novel phenotype of diffuse-twisting wave-like movements of airway epithelial cell populations.
Respiratory investigationMulticiliated cells: Development, functions and disease relevance.
Seminars in cell & developmental biologyCharacterisation of a primary ciliary dyskinesia model generated from BMI1-transduced basal epithelial cells.
Journal of cell scienceNovel OFD1 Mutation Results in Unusually Early-Onset Polycystic Kidney Disease.
Case reports in nephrology and dialysisPrimary Ciliary Dyskinesia Caused by a Heterozygous Large Deletion in DNAAF11 Accompanied by a Hemizygous Nonsense Variant: A Case Report from Japan.
Internal medicine (Tokyo, Japan)EFCAB10 anchors AK8 to the radial spoke for proper ciliary motility.
Proceedings of the National Academy of Sciences of the United States of AmericaThe rapidly changing paradigms for the diagnosis and treatment of cystic fibrosis, bronchiectasis, and primary ciliary dyskinesia.
Current opinion in pulmonary medicineKartagener's Syndrome With Complications: Diagnostic Challenges in a Resource-Limited Setting.
Clinical case reportsThe Genetic Defects of N-DRC in Male Infertility.
Clinical geneticsImpact of Seasonal Variability in Nasal Nitric Oxide Measurements for Primary Ciliary Dyskinesia Screening.
Respiratory carePrimary ciliary dyskinesia with situs inversus totalis.
BMJ case reportsMolecular Mechanisms Underlying the Construction of Ciliary Doublet Microtubules.
BiochemistryHypertonic Saline or Carbocisteine in Bronchiectasis.
The New England journal of medicineFirst report of DNAI2-associated primary ciliary dyskinesia in Libya: A case from a nonconsanguineous marriage.
Respiratory medicine case reportsAdequacy of Clinical and Radiological Evidence for the Management of Kartagener Syndrome.
CureusEuropean Respiratory Society clinical practice guideline for the management of adult bronchiectasis.
The European respiratory journalEuropean Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia.
The European respiratory journalODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec.
CellsNoncoding DNA Variants in Primary Ciliary Dyskinesia: Another Piece of the Diagnostic Puzzle.
American journal of respiratory and critical care medicineEmerging insights into primary ciliary dyskinesia-associated hydrocephalus: a scoping review.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryA Rare Tetrad of Sickle Cell Disease, Vascular Ehlers-Danlos Syndrome, Primary Ciliary Dyskinesia, and Phelan-McDermid Syndrome in a Saudi Child: A Complex Multisystem Pediatric Case Report.
Pediatric reportsNuclear-cytoplasmic translocation of MCIDAS couples transcription with massive de novo centriole biogenesis in multiciliated cells.
Cell reportsChanges in sputum viscoelastic properties and airway inflammation in primary ciliary dyskinesia are comparable to cystic fibrosis on elexacaftor/tezacaftor/ivacaftor therapy.
The European respiratory journalAirway Disease Progression on Chest Computed Tomography in Children With Primary Ciliary Dyskinesia.
Pediatric pulmonologyLipid nanoparticle-encapsulated Dnai1 mRNA rescues ciliary activity in primary ciliary dyskinesia mouse cell models.
Journal of cell scienceGenetic Characterization of Primary Ciliary Dyskinesia in a Consanguineous Population: Insights From the Largest Middle Eastern Cohort.
Pediatric pulmonologyA Case of Kartagener's Syndrome Presenting With Severe Hypoxemia.
CureusPrimary ciliary dyskinesia phenotypes and correlation with genotype.
Current opinion in pulmonary medicineLentiviral Gene Delivery Rescues Ciliary Defects in Patient-Derived Airway Organoids from Primary Ciliary Dyskinesia.
Human gene therapyExploring Ciliary Mechanisms in the Causation of Hydrocephalus in Humans-Similarities and Differences from Animal Models.
Journal of molecular neuroscience : MNPrimary ciliary dyskinesia: clinical manifestations and current diagnostic approaches.
Current opinion in pulmonary medicineBronchiectasis evaluation 2025: pediatric and adult perspectives.
Current opinion in pulmonary medicineIdentification of an RSPH4A Founder Variant and Newborn Screening for Primary Ciliary Dyskinesia.
JAMA network openUltra-low dose computed tomography chest vs chest radiography in paediatric primary ciliary dyskinesia: A prospective study.
World journal of radiologyInvestigating motile ciliopathies in a pediatric case of an abnormal optic nerve head.
Ophthalmic geneticsCFAP300 loss-of-function variant causes primary ciliary dyskinesia and male infertility via disrupting sperm flagellar assembly and acrosome formation.
Asian journal of andrologyDNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation.
Orphanet journal of rare diseasesGlomerulocystic Kidney Disease in an Adult with DNAH1 Mutation: A Case Report.
Indian journal of nephrologyHeterogeneity of radial spoke components in Tetrahymena cilia.
Cellular and molecular life sciences : CMLSBronchiectasis in Children: A Comparative Analysis of Cystic Fibrosis and Non-Cystic Fibrosis Etiologies Using the Bhalla Score.
Balkan medical journal[18F]FDG PET/MR to assess disease extension and inflammation in children and young adults with primary ciliary dyskinesia.
European journal of nuclear medicine and molecular imagingCharacterising research trends in bronchiectasis through AI-powered analytics.
The European respiratory journalExploring demographic and genetic correlates of hearing outcomes in children with primary ciliary dyskinesia: an observational study.
Archives of disease in childhoodSystematic Comparison of Temperature Effects on Antibody Performance via Automated Image Analysis: A Key for Primary Ciliary Dyskinesia Diagnostic.
CellsRSPH4A-PCDx: An Index to Predict Lung Function Decline in Primary Ciliary Dyskinesia.
Advances in respiratory medicineAnalysis of clinical and genetic features in an adolescent patient with primary ciliary dyskinesia induced by homozygous mutation in the RSPH4A gene: a case report.
Frontiers in pediatricsBelly Dancer's Dyskinesia or Functional Movement Disorder: Involuntary Abdominal Movements in a Pediatric Patient.
CureusSitus inversus totalis with pleural empyema: a clue to ciliary dysfunction.
BMJ case reportsKartagener Syndrome in Two Siblings: A Familial Case Report With Phenotypic Variability and Destroyed Lung Syndrome as a Rare Complication.
CureusCFAP300 Loss-of-Function Mutations with Primary Ciliary Dyskinesia: Evidence from Ex Vivo and ALI Cultures.
International journal of molecular sciencesKartagener's syndrome with congenital heart defect-an old rare disease with a new rare face.
Cardiology in the youngA stem cell-based platform for functional analysis of genetic variants in lung disease.
bioRxiv : the preprint server for biology[Clinical and genetic analysis of a child with Primary ciliary dyskinesia variants and co-existence of CCDC39 gene variants and 22q11.21 deletion].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsNoncoding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary Dyskinesia.
American journal of respiratory and critical care medicinePrimary ciliary dyskinesia.
Paediatrics & child healthThe lack of homozygotes with a large deletion encompassing SPAG1 and POLR2K in primary ciliary dyskinesia patients suggests the lethal effect of the loss of POLR2K protein.
Genes & diseasesManagement of Primary Ciliary Dyskinesia in a Kartagener's Syndrome Patient With Total Situs Inversus.
Respirology case reportsProteomic and structural comparison between cilia from primary ciliary dyskinesia patients with a DNAH5 defect.
Frontiers in molecular biosciencesClinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.
Molecular diagnosis & therapyMultifaceted Primary Ciliary Dyskinesia-A Case Report.
Reports (MDPI)Dpcd Induces Hydrocephalus Because of Partial Defects in the Inner Dynein Arms, With Abnormal Ciliary Motility.
Cytoskeleton (Hoboken, N.J.)Radiological Patterns of Pediatric Non-cystic Fibrosis Bronchiectasis: A Retrospective Study From Oman.
CureusWhen Primary Ciliary Dyskinesia Is Diagnosed in Utero: Insights from Two Families.
Advances in therapyPulmZoom: Yield for Targeted Gene Panels in Genetically-Mediated Respiratory Disorders.
Pediatric pulmonologyPneumonia and bacteremia due to Pseudomonas aeruginosa in a primary ciliary dyskinesia patient with DNAH5 variants: A case report.
Respiratory medicine case reportsAssessment of Bronchodilator Response in Patients with CF and Non-CF Bronchiectasis-A Randomized Controlled Study.
Journal of clinical medicineGenotype and transcript processing of the tumour necrosis factor receptor TNFRSF1A in epithelial cells: implications for survival in cystic fibrosis.
EBioMedicineRepeatability of Multiple Breath Washout in Pediatric Primary Ciliary Dyskinesia.
Pediatric pulmonologyNeutrophil-derived biomarkers in bronchiectasis: identifying a common therapeutic target.
The European respiratory journalRandomized Cross-Over Analysis of the Influence of Nitrogen Multiple Breath Washout on Spirometry in Monitoring Lung Function in Patients With Cystic Fibrosis and Primary Ciliary Dyskinesia.
Pediatric pulmonologyWide Spectrum of Disease Manifestations in Siblings With Primary Ciliary Dyskinesia Carrying DNAJB13 Mutations: A Case Study.
Journal of paediatrics and child healthCase Report: Identification of a novel hemizygous CFAP47 variant in a primary ciliary dyskinesia patient with dual ciliary and flagellar defects.
Frontiers in medicinePhysical and functional interaction of Lrrc56 and Odad3 controls deployment of axonemal dyneins in vertebrate multiciliated cells.
bioRxiv : the preprint server for biologyGreater disease severity in adults with paediatric-onset versus adult-onset bronchiectasis: a multicentre EMBARC registry study.
The European respiratory journalRising Prevalence of Nontypeable Haemophilus influenzae and Haemophilus parainfluenzae in People With Primary Ciliary Dyskinesia: A Single-center Experience.
The Pediatric infectious disease journalClinical features and genetic spectrum of children with primary ciliary dyskinesia in central China: a referral center retrospective analysis.
Frontiers in pharmacologyAn indigenous method of high-speed video microscopy for diagnosis of primary ciliary dyskinesia in children.
World journal of pediatrics : WJPCorrigendum to "Centriolar defects underlie a primary ciliary dyskinesia phenotype in an adenylate kinase 7 deficient ciliated epithelium" [Dev. Biol. 524 (2025) 152-161].
Developmental biologyMolecular Insights into Outer Dynein Arm Defects in Primary Ciliary Dyskinesia: Involvement of ZMYND10 and GRP78.
CellsNatural variability of lung function in primary ciliary dyskinesia: longitudinal analysis from the PROVALF-PCD cohort.
ERJ open researchInternational consensus statement on routine blood testing in primary ciliary dyskinesia.
ERJ open researchTargeted Preconditioning and Cell Transplantation in the Murine Lower Respiratory Tract.
American journal of respiratory cell and molecular biologyMultiple breath washout in primary ciliary dyskinesia: a systematic review of the literature.
European respiratory review : an official journal of the European Respiratory SocietyNasal nitric oxide measurement for the diagnosis of primary ciliary dyskinesia: summary of the European Respiratory Society technical standard.
Breathe (Sheffield, England)Sleep disordered breathing in children with primary ciliary dyskinesia.
ERJ open researchPlakophilin 3 Is Involved in Basal Body Docking in Multiciliated Cells.
International journal of molecular sciencesBilateral Sensorineural Hearing Loss in a Patient with Primary Ciliary Dyskinesia and Concomitant SH3TC2 Gene Mutation.
Journal of clinical medicineDirect assessment of airway microbiota in primary ciliary dyskinesia end-stage lung disease.
ERJ open researchThe cryo-EM structure of mouse radial spoke 3 reveals a unique metabolic and regulatory hub in cilia.
bioRxiv : the preprint server for biologyReferral Rates and Diagnostic Evaluation for Primary Ciliary Dyskinesia in Patients With Laterality Defects Who Meet Primary Ciliary Dyskinesia Evaluation Criteria.
Pediatric pulmonology'Nobody Has Ever Spoken to Me About PCD and Fertility Issues': Fertility Experiences of People With Primary Ciliary Dyskinesia and Their Family Caregivers.
Health expectations : an international journal of public participation in health care and health policyThe prevalence of laterality defects in patients with congenital heart disease.
Journal of human geneticsResearch progress in the role of tubal ciliary movement in female infertility-related disorders.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesPseudomonas Reinfection in a Patient With Primary Ciliary Dyskinesia: How a Toothbrush Could Make You Sick.
CureusAssessing Olfactory Acuity in Primary Ciliary Dyskinesia with the RSPH4A Founder Mutation.
Journal of clinical medicineCiliary Motility and Ultrastructure in Bronchial Epithelium of Lung Transplant Recipients with Primary Ciliary Dyskinesia.
Journal of clinical medicineAssociações
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Discinesia ciliar primária e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
A condição é causada por variantes genéticas em genes que formam ou controlam o movimento dos cílios do corpo humano. Entre os genes associados estão DNAAF3, CCDC39, CCDC40 e RSPH3. A herança pode ocorrer de forma autossômica recessiva, autossômica dominante ou recessiva ligada ao cromossomo X.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Discinesia ciliar primária. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/discinesia-ciliar-primaria
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Discinesia ciliar primária
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Moléculas estudadas na doença
- fonte: OpenTargets
- Reposicionamento
- fonte: Drug Repurposing Hub
- Ensaios clínicos
- fonte: ClinicalTrials.gov
