Lesão tubulointersticial progressiva, herdada em padrão autossômico recessivo, causada por mutações em genes envolvidos na função ciliar, que pode resultar em insuficiência renal terminal.
Introdução
O que você precisa saber de cara
Lesão tubulointersticial progressiva, herdada em padrão autossômico recessivo, causada por mutações em genes envolvidos na função ciliar, que pode resultar em insuficiência renal terminal.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 16 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 86 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
18 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Together with BCAR1 it may play a role in the control of epithelial cell polarity (By similarity). Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling (By similarity). May play a role in the regulation of intrafla
Cell junctionCell junction, adherens junctionCell projection, ciliumCytoplasm, cytoskeleton, cilium axonemeCell junction, tight junction
Nephronophthisis 1
An autosomal recessive inherited disease characterized by anemia, polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical destruction of the kidneys involving both tubules and glomeruli occurs. The underlying pathology is a chronic tubulo-interstitial nephropathy with characteristic tubular basement membrane thickening and medullary cyst formation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. The age at death ranges from about 4 to 15 years.
Cleaves the large aggregating proteoglycans, aggrecan (at the '1838-Glu-|-Ala-1839' site) and versican (at the '1428-Glu-|-Ala-1429' site). Has a protease-independent function in promoting the transport from the endoplasmic reticulum to the Golgi apparatus of a variety of secretory cargos
Secreted, extracellular space, extracellular matrixEndoplasmic reticulum
Protein that plays a role in the inhibition of canonical Wnt signaling pathway (PubMed:25557784). May be involved in neuronal migration during development of the cerebral neocortex (By similarity). Involved in the control of ciliogenesis and ciliary length (PubMed:25601850, PubMed:27319779)
Cell projection, ciliumCytoplasm, cytoskeleton, cilium axonemeCell projection, kinociliumCytoplasm, cytoskeleton
Dyslexia 2
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.
Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. May collaborate with IFT20 in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium during the initiation of primary cilium assembly
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole
Nephronophthisis 18
An autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients.
Required for renal function
Cell projection, ciliumCytoplasm
Nephronophthisis 16
A form of nephronophthisis, a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis.
Required for renal tubular integrity. May regulate local cytoskeletal structure in kidney tubule epithelial cells. May regulate ciliary biogenesis through targeting of proteins to the cilia (PubMed:37598857). Plays a role in organogenesis, and is involved in the regulation of the Hippo signaling pathway (PubMed:26967905)
CytoplasmCytoplasm, cytoskeletonCell projection, ciliumCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, cilium axoneme
Nephronophthisis 9
An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.
Na(+)/Mg(2+) ion exchanger that acts as a predominant Mg(2+) efflux system at the plasma membrane (PubMed:18367447, PubMed:22031603, PubMed:23661805, PubMed:23976986). Transporter activity is driven by the inwardly directed electrochemical gradient for Na(+) ions, thus directly depends on the extracellular Na(+) ion concentration set by Na(+)/K(+) pump (PubMed:22031603, PubMed:23661805). Generates circadian cellular Mg(2+) fluxes that feed back to regulate clock-controlled gene expression and me
Cell membraneBasolateral cell membrane
Nephronophthisis-like nephropathy 2
A disorder with features of nephronophthisis, a cystic kidney disease leading to end-stage renal failure. Nephronophthisis is histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical manifestation are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms are frequent. NPHPL2 is an autosomal recessive form characterized by onset of progressive renal insufficiency in the first decades of life.
Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements
Cell projection, cilium
Nephronophthisis 3
An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction.
Negative regulator of NOD2 function. It down-regulates NOD2-induced processes such as activation of NF-kappa-B signaling, IL8 secretion and antibacterial response (PubMed:22700971). Involved in JNK signaling pathway (By similarity)
CytoplasmNucleusCytoplasm, cytoskeleton, spindle pole
Nephronophthisis 20
A form of nephronophthisis, an autosomal recessive chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis. NPHP20 patients do not show extrarenal manifestations or evidence of a ciliopathy, such as situs inversus or polydactyly.
Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Is a key regulator of stereociliary bundle orientation (By similarity). Required for epithelial cell branch
Cell membraneEndoplasmic reticulum membraneCell projection, ciliumCytoplasm, cytoskeleton, cilium basal body
Can act either as a transcriptional repressor or as a transcriptional activator, depending on the cell context. Acts as a repressor of the Hedgehog signaling pathway (By similarity). Represses the Hedgehog-dependent expression of Wnt4 (By similarity). Necessary to maintain the differentiated epithelial phenotype in renal cells through the inhibition of SNAI1, which itself induces the epithelial-to-mesenchymal transition (By similarity). Represses transcriptional activation mediated by CTNNB1 in
Nucleus speckleCytoplasm
Nephronophthisis 7
An autosomal recessive disorder resulting in end-stage renal disease during childhood or adolescence. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.
Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module (PubMed:19755384, PubMed:21565611). Does not seem to be strictly required for ciliogenesis (PubMed:21565611). Required for building functional cilia. Involved in the organization of the subapical actin network in multiciliated epithelial cells. Seems to recruit INT to basal bodies of motile cilia which subsequently interacts with actin-modifying proteins such as DAAM1 (By similarity). In co
Cytoplasm, cytoskeleton, cilium basal bodyCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCell junction, tight junctionNucleus
Nephronophthisis 4
An autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.
Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradation by the ubiquitin-proteasome. This suggests that it is required in renal development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling. Involved in the organization of apical junctions in kidney cells toge
CytoplasmCytoplasm, cytoskeletonCytoplasm, cytoskeleton, spindleMembraneNucleusCell projection, cilium
Nephronophthisis 2
An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by early onset and rapid progression. Phenotypic manifestations include enlarged kidneys, chronic tubulo-interstitial nephritis, anemia, hyperkalemic metabolic acidosis. Some patients also display situs inversus. Pathologically, it differs from later-onset nephronophthisis by the absence of medullary cysts and thickened tubular basement membranes, and by the presence of cortical microcysts.
Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Leu-Pro-Ala (PubMed:25609706, PubMed:28476889). Also shows low activity towards peptides with Ala or Ser at the P1 position (PubMed:28476889) Promotes TNFRSF1B-mediated phosphorylation of MAPK8/JNK1 and MAPK9/JNK2, suggesting a function as an adapter protein for TNFRSF1B; the effect is independent of XPNPEP3 peptidase activity. May inhibit apoptotic cell death induced via TNF-TNFRSF1B signaling
MitochondrionCytoplasm
Nephronophthisis-like nephropathy 1
An autosomal recessive disorder with features of nephronophthisis, a cystic kidney disease leading to end-stage renal failure. Nephronophthisis is histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical manifestation are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms are frequent. In NPHPL1 patients, extrarenal symptoms include hypertension, essential tremor, sensorineural hearing loss and gout. Severely affected individuals can manifest a mitochondrial disorder with isolated complex I deficiency activity in muscle, seizures, intellectual disability and hypertrophic dilated cardiomyopathy.
As component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in cilia function and/or assembly (PubMed:20889716). Essential for functional IFT-A assembly and ciliary entry of GPCRs (PubMed:20889716). Associates with the BBSome complex to mediate ciliary transport (By similarity)
Cell projection, ciliumCytoplasm, cytoskeleton, cilium basal bodyCell projection, cilium, photoreceptor outer segmentCell projection, cilium, flagellum
Cranioectodermal dysplasia 4
A disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described.
Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs). Essential for retrograde trafficking of IFT-1, IFT-B and GPCRs (PubMed:27932497). Negatively modulates the SHH signal transduction (By similarity)
Cytoplasm, cytoskeleton, cilium axoneme
Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centrioleNucleus
Nephronophthisis 15
An autosomal recessive disorder characterized by the association of nephronophthisis with Leber congenital amaurosis and retinal degeneration, often resulting in blindness during childhood. Additional features include seizures, cerebellar vermis hypoplasia, facial dysmorphism, bronchiectasis and liver failure. Nephronophthisis is a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure.
Transcription factor that can both act as an activator or a repressor depending on the context. Plays a central role in BMP signaling and olfactory neurogenesis. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved in terminal olfactory receptor neurons differentiation; this interaction preventing EBF1 to bind DNA and activate olfactory-specific genes. In
Nucleus
Nephronophthisis 14
An autosomal recessive disorder manifesting as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus. Nephronophthisis is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.
Variantes genéticas (ClinVar)
408 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 14,584 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
21 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 — Nefronoptise
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
25 ensaios clínicos encontrados, 3 ativos.
Publicações mais relevantes
The SLC41 Family of Magnesium Transporters: Molecular Regulators of Magnesium Homeostasis and Their Multifaceted Roles in Human Diseases.
Magnesium ion (Mg2+), particularly its free intracellular form, is indispensable for regulating diverse cellular functions. This critical role implies the existence of dedicated transporters and channels in the plasma membrane that coordinate Mg2+ uptake, intracellular storage, and efflux to maintain homeostasis. Although numerous molecular entities responsible for such Mg2+ transport have been reported over the past decades, there is still limited knowledge of their precise functions and disease implications. This review focuses on the solute carrier family 41 (SLC41), which consists of three isoforms (A1, A2, and A3) that share homology with the prokaryotic magnesium transporter E (MgtE) Mg2+ transporter family. Accumulating evidence has established SLC41A1 as the Na+/Mg2+ exchanger-a predominant Mg2+-efflux system. By contrast, the subcellular site of SLC41A2-mediated Mg2+ flux remains undefined, with potential roles at either the plasma membrane or organellar membranes, and SLC41A3 facilitates Na+-dependent Mg2+ efflux from mitochondria. Additionally, several studies have reported the association between SLC41s and diseases, including Parkinson's disease, hepatocellular carcinoma, and nephronophthisis-related ciliopathies. By synthesizing current knowledge, this review aims to enhance the understanding of SLC41 transporters in health and disease and to explore their potential as therapeutic targets for clinical intervention.
Refractory Rickets: Evaluation and Management.
Refractory rickets refers to a set of diseases which are identified by a lack of response to therapeutic doses used to treat vitamin D deficiency. A child presenting with refractory rickets can pose a diagnostic dilemma as many kidney diseases have been identified as possible causes. Inherited (e.g., distal renal tubular acidosis, Fanconi syndrome, hypophosphatemic rickets, vitamin D-dependent rickets, nephronophthisis) and acquired tubular disorders [e.g., posterior urethral valves, reflux nephropathy leading to chronic kidney disease (CKD)-mineral bone disorder] may be complicated by refractory rickets. Rarely, chronic liver disease and malabsorption states can also result in refractory rickets. Hypophosphatemia is a feature of both calcipenic as well as phosphopenic rickets. Common features accompanying refractory rickets include polyuria, polydipsia, hypokalemic paralysis, fractures, limb deformities, failure-to-thrive, short-stature, tetany and nephrocalcinosis. A careful history, examination and biochemical evaluation is required to delineate the underlying cause. Using a rational algorithmic approach, it is possible to determine the correct diagnosis in these cases. Consequent upon easy availability of next generation sequencing (NGS), the accurate diagnoses can be promptly made aiding in targeted therapy. Children with refractory rickets need regular follow-up to optimise the biochemical abnormalities, monitor growth and retard the progression of CKD. This article describes the evaluation of a child with refractory rickets using an algorithmic approach, underscores the importance of the necessary blood and urine biochemical tests as well as NGS for identification of the precise etiology of refractory-rickets; and discusses the pathophysiology and management of the most important causes of refractory-rickets.
Rapidly Progressive Kidney Failure With Transient Non-Cystic Kidney Enlargement: A Case Report Highlighting Delayed Medullary Cyst Formation.
Hereditary tubulointerstitial kidney diseases typically manifest as slowly progressive chronic kidney disease. Rapidly progressive kidney failure with non-cystic nephromegaly is an exceptionally rare presentation posing significant diagnostic challenges. We describe a 64-year-old man presenting with rapidly progressive kidney failure and bilateral non-cystic kidney enlargement. Initial imaging, including computed tomography (CT) and magnetic resonance imaging (MRI), revealed no cysts. Kidney biopsy showed tubular ectasia and basement membrane abnormalities consistent with tubulointerstitial disease, and genetic analysis identified a heterozygous NPHP1 variant. Although liver biopsy supported a diagnosis of nephronophthisis-related ciliopathy, the aggressive clinical course and absence of cysts were atypical. Notably, 5 years after initiating haemodialysis, follow-up MRI revealed numerous medullary cysts that were previously undetectable. Crucially, these cysts were clearly visible on MRI but remained indistinguishable on concurrent CT. This case illustrates a deceptive 'pre-cystic' phase characterised by rapid progression and inflammatory nephromegaly. It underscores that initial cyst absence does not exclude the diagnosis and establishes the critical superiority of MRI over CT for detecting delayed medullary cysts to determine the aetiology in end-stage kidneys.
Urothelial Carcinoma of the Bladder Following BK Virus Infection in a Pediatric Kidney Transplant Recipient.
Urothelial bladder carcinoma is extremely rare in children and its association with BK virus infection remains unclear. We describe the case of an 11-year-old girl who developed a urothelial carcinoma of the bladder four years after receiving her first kidney transplant. Kidney failure was secondary to nephronophthisis (NPHP6 variant), diagnosed in the neonatal period and associated with Leber congenital amaurosis and intellectual disability. She underwent peritoneal dialysis for four years before kidney transplantation at 6.5 years of age. Five months post-transplant, she developed BK virus-associated nephropathy, leading to chronic allograft dysfunction. Four years later, a routine ultrasound revealed an asymptomatic bladder mass without evidence of extension. The lesion was resected endoscopically and later managed with partial cystectomy. Histopathologic analysis confirmed a high-grade invasive urothelial carcinoma (pT2). Immunohistochemistry showed SV40 positivity, consistent with BK virus-induced neoplasia, while non-tumoral cells were negative. BK viremia had been undetectable one year prior to diagnosis. The patient remained disease-free for seven years following surgery, without adjuvant therapy. The involvement of BK virus in the development of bladder cancer has not yet been clarified. This case supports a possible role of BK virus in urothelial tumorigenesis, particularly in immunosuppressed transplant recipients.
Systemic and Ocular Manifestations of a Ciliopathy: A Case Report of Renal-Retinal Involvement in Senior-Loken Syndrome.
Background: Senior-Loken syndrome (SLS) is a rare autosomal recessive ciliopathy classically defined by the concurrence of nephronophthisis, frequently progressing to end-stage renal disease (ESRD), and retinal dystrophy, most commonly presenting as retinitis pigmentosa (RP). Given its phenotypic overlap with other renal-retinal syndromes, establishing a definitive diagnosis necessitates integrated clinical evaluation and molecular confirmation. Case Presentation: A 28-year-old Chinese female presented with a two-month history of binocular floaters. Her medical history was significant for ESRD of five years' duration, managed with maintenance hemodialysis. Ophthalmic assessment revealed retinal pigment mottling along the inferior temporal arcades and generalized arterial attenuation. Spectral-domain optical coherence tomography demonstrated outer retinal thinning with loss of the ellipsoid zone at corresponding locations. Perimetry confirmed visual field constriction, and full-field electroretinography showed severely reduced rod- and cone-mediated responses. Genetic testing was performed and a pathogenic variant in the NPHP1 gene was identified. Segregation studies confirmed both parents as heterozygous carriers, consistent with autosomal recessive inheritance. Collectively, these findings established a diagnosis of SLS. Conclusions: This case reinforces that SLS should be considered in the differential diagnosis of any young patient exhibiting RP alongside chronic kidney disease, particularly in the setting of early-onset ESRD. It also illustrates the essential role of a coordinated, multidisciplinary approach-encompassing nephrology, ophthalmology, and genetics-in diagnosing complex ciliopathies. Genetic confirmation not only validates the clinical diagnosis but also provides a foundation for family counseling, prognostic stratification, and future eligibility for gene-specific therapeutic trials.
Publicações recentes
Renal Tubule-Specific Deletion of Nephrocystin 3 (Nphp3) Causes Infantile Nephronophthisis-like Phenotypes in Mice.
📖 RevisãoRapidly Progressive Kidney Failure With Transient Non-Cystic Kidney Enlargement: A Case Report Highlighting Delayed Medullary Cyst Formation.
Urothelial Carcinoma of the Bladder Following BK Virus Infection in a Pediatric Kidney Transplant Recipient.
Systemic and Ocular Manifestations of a Ciliopathy: A Case Report of Renal-Retinal Involvement in Senior-Loken Syndrome.
📖 RevisãoThe SLC41 Family of Magnesium Transporters: Molecular Regulators of Magnesium Homeostasis and Their Multifaceted Roles in Human Diseases.
🥉 Relato de caso📚 EuropePMC495 artigos no totalmostrando 196
Rapidly Progressive Kidney Failure With Transient Non-Cystic Kidney Enlargement: A Case Report Highlighting Delayed Medullary Cyst Formation.
Nephrology (Carlton, Vic.)Urothelial Carcinoma of the Bladder Following BK Virus Infection in a Pediatric Kidney Transplant Recipient.
Pediatric transplantationSystemic and Ocular Manifestations of a Ciliopathy: A Case Report of Renal-Retinal Involvement in Senior-Loken Syndrome.
Journal of clinical medicineThe SLC41 Family of Magnesium Transporters: Molecular Regulators of Magnesium Homeostasis and Their Multifaceted Roles in Human Diseases.
International journal of molecular sciencesRefractory Rickets: Evaluation and Management.
Indian journal of pediatricsCocoon Syndrome as a Cause of Intestinal Failure and Indication for Combined Liver-Intestine-Kidney Transplantation.
Intestinal Failure (New York, N.Y.)Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy.
Kidney internationalLoss of ADAMTS9 disrupts ciliogenesis and collagen homeostasis resulting in Nephronophthisis-like polycystic kidneys.
bioRxiv : the preprint server for biologyThe Evolving Experience and Outcomes of Pediatric Kidney Transplant in Abu Dhabi, UAE (2010-2024).
International journal of nephrologyFrom Variant of Uncertain Significance to Likely Pathogenic: Adult-Onset Nephronophthisis Linked to NPHP4 p.T680M.
Kidney international reportsPhenotypic and genotypic analysis of pediatric nephronophthisis patients with different levels of proteinuria.
Renal failureRenaming Medullary Cystic Kidney Disease: A Review of Semantic Nomenclature.
CureusMolecular mechanisms of TTC21B gene mutations in nephronophthisis type 12 and genetic prevention through PGT.
Frontiers in geneticsIL1β is induced in nephronophthisis but does not mediate kidney damage.
Genes & diseasesZONAB regulates renal cyst formation in nphp1 knockout mice.
Translational research : the journal of laboratory and clinical medicineExome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease.
Clinical journal of the American Society of Nephrology : CJASNSegmentation of renal tubules and automatic biomarker quantification in ciliopathy preclinical models.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International ConferenceSenior-Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report.
Journal of medical case reportsBiallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like Phenotype.
NephronLife-Threatening Noninfectious Complications of Peritoneal Dialysis in an Infant with End-Stage Kidney Disease.
Pediatric reportsA ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant.
NPJ genomic medicineiPSC-based drug discovery identified the Hippo signaling pathway as a therapeutic target in the fibrosis of NPHP1-deficient nephronophthisis.
Stem cell research & therapyA novel XPNPEP3 gene variant manifesting as rhabdomyolysis and exercise intolerance.
Journal of neuromuscular diseasesA Unique Case of Joubert Syndrome with Concurrent IgA Nephropathy and Nephronophthisis in an Adult Patient.
Indian journal of nephrologyWhen Nonspecific Symptoms Conceal Kidney Disease: A Case Report on Recognizing Juvenile Nephronophthisis in Pediatric Practice.
Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & PractitionersSystematic review of outcomes reported in clinical research on nephronophthisis: how do they align with SONG Kids priorities?
Pediatric nephrology (Berlin, Germany)Prostaglandin Analogs and Eupatilin as Treatments for Nephronophthisis.
Kidney international reportsStructure-Activity Analysis Reveals Perturbed Cilia-Jun N-Terminal Kinase Signaling in MAPKBP1-Associated Kidney Disease.
Kidney international reportsTargeting GLP-1 Signaling Ameliorates Cystogenesis in a Zebrafish Model of Nephronophthisis.
International journal of molecular sciencesUrinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy.
Journal of cell scienceSymptomatic Hypokalemia Due to NPHP1-Associated Nephronophthisis.
Indian journal of pediatricsExome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families.
European journal of human genetics : EJHGMultifaceted Primary Ciliary Dyskinesia-A Case Report.
Reports (MDPI)Bilateral cataracts as an early ocular manifestation of senior-loken syndrome.
Journal of the National Medical AssociationThe nephronophthisis protein GLIS2/NPHP7 is required for the DNA damage response in kidney tubular epithelial cells.
American journal of physiology. Renal physiologyProgressive Retinal Degeneration and Juvenile Nephronophthisis in a Patient with Autosomal Recessive Ciliopathy: A Case Report.
Case reports in ophthalmologyCase Report: A renal wasting disease caused by a pure deletion of nephrocystin-1.
Frontiers in pediatricsAberrant activation of IL-6/JAK/STAT3/FOSL1 signaling induces renal abnormalities in a Xenopus model of Joubert syndrome-related disorders.
The Journal of biological chemistryNephronophthisis and Retinitis Pigmentosa (Senior-Loken Syndrome) After Living-Donor Kidney Transplantation: Twelve-Year Follow-Up in a Young Woman.
Journal of medical casesINVS Mutation-Related NPHP2 Nephronophthisis With Glomerulocystic Disease: A Case Report.
Kidney medicineSenior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.
BiomoleculesA Novel NPHP5 Gene Mutation in Three Siblings With Nephronophthisis Without Retinitis Pigmentosa: A Case Report.
Case reports in geneticsCalpain1 inhibition enhances autophagy-lysosomal pathway and ameliorates tubulointerstitial fibrosis in Nephronophthisis.
Molecular medicine (Cambridge, Mass.)Metabolic reprogramming in polycystic kidney disease and other renal ciliopathies.
EMBO molecular medicineLong-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome.
NPJ genomic medicineSimultaneous Liver and Kidney Transplant in a Middle-Income Country: A Single-Center Experience.
Annals of transplantationSOX9-dependent fibrosis drives renal function in nephronophthisis.
EMBO molecular medicineNEK8, a NIMA-family protein kinase at the core of the ciliary INV complex.
Cell communication and signaling : CCSAmeliorative Effect of an Anti-MicroRNA-21 Oligonucleotide on Animal and Human Models of Cystic Kidney Disease.
Kidney360Juvenile nephropathy resembling human nephronophthisis-medullary cystic kidney disease in a 9-month-old domestic shorthaired cat.
The Journal of small animal practiceDelayed-Onset Renal Allograft Compartment Syndrome in a Pediatric Kidney Transplant Recipient: The Role of Surgical Re-Evaluation.
Pediatric transplantationGranulomatous nephropathy: have you thought about genetics?
Pediatric nephrology (Berlin, Germany)Kibra knockdown inhibits the aberrant Hippo pathway, suppresses renal cyst formation and ameliorates renal fibrosis in nphp1KO mice.
Clinical and translational medicinePhenotype and genotype of autosomal dominant tubulointerstitial kidney disease in a Japanese cohort.
Clinical and experimental nephrologyUrinary Dickkopf-3 Reflects Disease Severity and Predicts Short-Term Kidney Function Decline in Renal Ciliopathies.
Kidney international reportsVariant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.
Clinical geneticsUse of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.
Human molecular geneticsCopy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy.
Genetics in medicine openCase report of visual quality in a patient with nephronophthisis 12- associated retinopathy secondary to TTC21B mutation.
Documenta ophthalmologica. Advances in ophthalmologyANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases.
GenesVinblastine Resistance Is Associated with Nephronophthisis 3-Mediated Primary Cilia via Intraflagellar Transport Protein 88 and Apoptosis-Antagonizing Transcription Factor.
International journal of molecular sciencesNovel mutation in XPNPEP3 in a patient with heart failure without nephronophthisis-like nephropathy (NPHPL1): case report and literature review.
BMC pediatricsDiseases of the primary cilia: a clinical characteristics review.
Pediatric nephrology (Berlin, Germany)Nephronophthisis-associated ciliopathy with brachydactyly, medullary cysts, and chronic kidney disease.
Kidney internationalBilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83 Gene.
American journal of medical genetics. Part AA Rare Case of Atypical Hemolytic Uremic Syndrome Presenting as Chronic Interstitial Nephritis.
CureusRadiological features of Joubert syndrome and clinical case presentation.
Radiology case reportsImmunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis.
Pediatric nephrology (Berlin, Germany)Increased ER stress by depletion of PDIA6 impairs primary ciliogenesis and enhances sensitivity to ferroptosis in kidney cells.
BMB reportsPatient-derived and gene-edited pluripotent stem cells lacking NPHP1 recapitulate juvenile nephronophthisis in abnormalities of primary cilia and renal cyst formation.
Frontiers in cell and developmental biologyExpanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis.
European journal of human genetics : EJHGGenetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study.
American journal of kidney diseases : the official journal of the National Kidney FoundationCase report of a child with nephronophthisis from South Africa.
BMC pediatricsGenome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum.
American journal of medical genetics. Part AIdentification of a Novel Deletion Variant (c.2999_3005delTGTGTGT/p.Asn1000SerfsTer4) in NPHP4 Associated With Nephronophthisis-4.
Journal of clinical laboratory analysisHuman Genetics of Defects of Situs.
Advances in experimental medicine and biologyA targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure.
Journal of nephrologySecukinumab for Severe Hidradenitis Suppurativa in a Patient on Haemodialysis: Efficacy and Safety on 300 mg Every 2 Weeks Administration - A Case Report.
Clinical, cosmetic and investigational dermatologyGenetic Diagnosis of Adult Hemodialysis Patients With Unknown Etiology.
Kidney international reportsDefects in diffusion barrier function of ciliary transition zone caused by ciliopathy variations of TMEM218.
Human molecular geneticsA case report of intrahepatic bile duct dilatation caused by WDR19 gene mutation and presented as Caroli syndrome.
Translational pediatricsSingle-Center Experience of Pediatric Cystic Kidney Disease and Literature Review.
Children (Basel, Switzerland)Renal cell carcinoma in an adult-onset ESRD patient with nephronophthisis harboring NPHP3 deletion: A case report.
HeliyonRenal Pathology of Ciliopathies.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyNephronophthisis 13 caused by WDR19 variants with pancytopenia: case report.
CEN case reportsPeritoneal dialysis-associated infection caused by Mycobacterium abscessus in a pediatric patient on continuous peritoneal dialysis without switching to hemodialysis.
CEN case reports1H, 13C, and 15N resonance assignments and solution structure of the N-terminal divergent calponin homology (NN-CH) domain of human intraflagellar transport protein 54.
Biomolecular NMR assignmentsIFT140 Mutation and End-Stage Renal Disease in Mainzer-Saldino Syndrome: A Case Report.
CureusNephronophthisis-associated FBW7 mediates cyst-dependent decline of renal function in ADPKD.
bioRxiv : the preprint server for biologyClinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants.
Molecular genetics & genomic medicineDiverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure.
Journal of rare diseases (Berlin, Germany)[C/EBPβ mediates expressions of downstream inflammatory factors of the tumor necrosis factor-α signaling pathway in renal tubular epithelial cells with NPHP1 knockdown].
Nan fang yi ke da xue xue bao = Journal of Southern Medical UniversityThe Pathophysiology of Inherited Renal Cystic Diseases.
GenesPhenotype Spectrum in Tunisian Population with NPHP1 Deletion.
Indian journal of nephrologyMixed diabetic ketoacidosis and hyperglycemic hyperosmolarity in a girl with nephronophthisis 4 presenting with rhabdomyolysis and pancreatitis.
Annals of pediatric endocrinology & metabolismCompound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report.
HeliyonAtaxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.
Neurology. GeneticsAutosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant.
The American journal of case reportsThe role of liver transplantation in COACH syndrome (Joubert syndrome with congenital hepatic fibrosis): A review of the literature.
Pediatric transplantationNephronophthisis: a pathological and genetic perspective.
Pediatric nephrology (Berlin, Germany)Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medullary collecting duct cells, independently of nephrocystin-1 and nephrocystin-4.
Frontiers in molecular biosciencesNon-classical functions of nuclear pore proteins in ciliopathy.
Frontiers in molecular biosciencesSuccessful Renal Transplantation in a Patient With Senior-Loken Syndrome and Antiphospholipid Syndrome: A Case Report.
Cureus[Clinical phenotype characteristics and genetic analysis in children with nephronophthisis and related syndromes caused by different gene mutations].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsSHOX2 promotes prostate cancer proliferation and metastasis through disruption of the Hippo-YAP pathway.
iScienceNPHP1-Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases.
Clinical case reportsOcular manifestations of renal ciliopathies.
Pediatric nephrology (Berlin, Germany)A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases.
GenesMutational burden of XPNPEP3 leads to defects in mitochondrial complex I and cilia in NPHPL1.
iScienceNovel compound heterozygous WDR35 variants in a Chinese patient associated with cranioectodermal dysplasia and ectopic testis: a case report and review of the literature.
BMC pediatricsIdentification of renal cyst cells of type I Nephronophthisis by single-nucleus RNA sequencing.
Frontiers in cell and developmental biologyRPI-1 (human DCDC2) displays functional redundancy with Nephronophthisis 4 in regulating cilia biogenesis in C. elegans.
Turkish journal of biology = Turk biyoloji dergisiBiallelic ANKS6 null variants cause notable extrarenal phenotypes in a nephronophthisis patient and lead to hepatobiliary abnormalities by YAP1 deficiency.
Clinical geneticsExome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
PloS oneInversin (NPHP2) and Vangl2 are required for normal zebrafish cloaca formation.
Biochemical and biophysical research communicationsA genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).
Scientific reportsRepurposing small molecules for nephronophthisis and related renal ciliopathies.
Kidney internationalRenal ciliopathies: promising drug targets and prospects for clinical trials.
Expert opinion on therapeutic targetsCystic Diseases of the Kidneys: From Bench to Bedside.
Indian journal of nephrologyThe genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Kidney internationalTwo rare copy number variants involving loss of NPHP1, MALL, and MTLN genes contribute to nephronophthisis-induced nephropathy progression in a family: A case report.
Nigerian journal of clinical practiceThe genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Orphanet journal of rare diseasesCystic kidney diseases in children.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieDisease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes.
Frontiers in medicinePathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4.
American journal of ophthalmologyA case report of two Chinese monozygotic twins with NPHP1 gene-associated nephronophthisis undergoing kidney transplantation from a related living-donor.
Transplant immunologyScalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion.
Clinical pediatricsBiallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype-genotype observations in four children.
Liver international : official journal of the International Association for the Study of the LiverInactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse.
eLife[Unexpected diagnosis of nephronopthisis in the genetic study of hypertension due to histological diagnosis of benign nephroangioesclerosis evolved in a young caucasian patient].
Hipertension y riesgo vascularIdentification of a Splicing Variant c.3813-3A>G in NPHP3 by Reanalysis of Whole Exome Sequencing in a Chinese Boy with Nephronophthisis.
NephronGeneration of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9.
Stem cell researchReducing GEF-H1 Expression Inhibits Renal Cyst Formation, Inflammation, and Fibrosis via RhoA Signaling in Nephronophthisis.
International journal of molecular sciencesJoubert syndrome: Molecular basis and treatment.
Journal of mother and childCo-Occurrence of Nephronophthisis Type 1 and Alström Syndrome: A Case Report.
NephronFunctional characteristics and therapeutic potential of SLC41 transporters.
Journal of pharmacological sciencesReview of the Use of Animal Models of Human Polycystic Kidney Disease for the Evaluation of Experimental Therapeutic Modalities.
Journal of clinical medicineRetinal Degeneration Animal Models in Bardet-Biedl Syndrome and Related Ciliopathies.
Cold Spring Harbor perspectives in medicineClinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Clinical neurology and neurosurgeryVariable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants.
Disease models & mechanismsHeLa Cervical Cancer Cells Are Maintained by Nephronophthisis 3-Associated Primary Cilium Formation via ROS-Induced ERK and HIF-1α Activation under Serum-Deprived Normoxic Condition.
International journal of molecular sciencesPrimary cilia suppress Ripk3-mediated necroptosis.
Cell death discoveryPrenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 2q12.2→q13 encompassing MALL, NPHP1, RGPD6 and BUB1.
Taiwanese journal of obstetrics & gynecologyCystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Journal of clinical medicineTemporal Profile of Kynurenine Pathway Metabolites in a Rodent Model of Autosomal Recessive Polycystic Kidney Disease.
International journal of tryptophan research : IJTRBiallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Clinical geneticsBiallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes.
Human genomicsA single heterozygous nonsense mutation in the TTC21B gene causes adult-onset nephronophthisis 12: A case report and review of literature.
Molecular genetics & genomic medicineRenal-hepatic-pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature.
BMC pediatricsHaving Multiple Renal Cysts in a Young Adult is not Always a Sign of Polycystic Kidney Disease.
Balkan journal of medical genetics : BJMGGenotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.
Pediatric nephrology (Berlin, Germany)NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist?
NephronRefining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
Kidney international reportsKidney biopsy diagnosis in childhood in the Norwegian Kidney Biopsy Registry and the long-term risk of kidney replacement therapy: a 25-year follow-up.
Pediatric nephrology (Berlin, Germany)NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination.
European journal of medical genetics[Clinical phenotype analysis of 6 cases of TTC21B gene related nephronophthisis].
Zhonghua er ke za zhi = Chinese journal of pediatricsClock genes rescue nphp mutations in zebrafish.
Human molecular geneticsA 5-year-old girl with kidney impairment and severe anemia: Answers.
Pediatric nephrology (Berlin, Germany)Different Clinical Courses of Nephronophthisis in Dizygotic Twins.
Internal medicine (Tokyo, Japan)Case Report: Adolescent-Onset Isolated Nephronophthisis Caused by a Novel Homozygous Inversin Mutation.
Frontiers in geneticsThe Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.
Annual review of genomics and human geneticsDeciphering cilia and ciliopathies using proteomic approaches.
The FEBS journalAssociation of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis.
Journal of cellular physiology[Enlarged multicystic dysplastic kidneys with oligohydramnios during infancy caused by NPHP3 gene mutation].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsNephronophthisis Is an Important Differential Diagnosis of Nonspecific Interstitial Nephritis in Adults.
Kidney international reportsLong-Term Outcomes of Kidney Transplant Recipients With Juvenile Nephronophthisis.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation[Nephronophthisis: a pediatric case report].
Archivos argentinos de pediatriaRenal Phenotype in Mitochondrial Diseases: A Multicenter Study.
Kidney diseases (Basel, Switzerland)Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations.
Zoological researchAgonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies.
Proceedings of the National Academy of Sciences of the United States of AmericaA unique pancreatic phenotype in a child with a WDR19-related ciliopathy: A case report and literature review of pancreatic involvement in ciliopathies.
American journal of medical genetics. Part ABiallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease.
American journal of medical genetics. Part C, Seminars in medical geneticsPrimary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases.
Orphanet journal of rare diseasesComprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population.
Journal of human geneticsThe renal inflammatory network of nephronophthisis.
Human molecular geneticsMitigation of portal fibrosis and cholestatic liver disease in ANKS6-deficient livers by macrophage depletion.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyATXN10 Is Required for Embryonic Heart Development and Maintenance of Epithelial Cell Phenotypes in the Adult Kidney and Pancreas.
Frontiers in cell and developmental biologyUpregulation of NADPH Oxidase 2 Contributes to Renal Fibrosis in pcy Mice: An Experimental Model of Nephronophthisis.
NephronCase Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure.
Frontiers in geneticsThe Role of Centrosome Distal Appendage Proteins (DAPs) in Nephronophthisis and Ciliogenesis.
International journal of molecular sciencesNephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease.
GenesNPHP1 FULL DELETION CAUSES NEPHRONOPHTHISIS AND A CONE-ROD DYSTROPHY.
Retinal cases & brief reportsWhole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria.
Pediatric nephrology (Berlin, Germany)Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation.
Brain & developmentBiallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation.
Human molecular geneticsOverexpression of smad7 inhibits the TGF-β/Smad signaling pathway and EMT in NPHP1-defective MDCK cells.
Biochemical and biophysical research communicationsSequential genetic testing of living-related donors for inherited renal disease to promote informed choice and enhance safety of living donation.
Transplant international : official journal of the European Society for Organ TransplantationINTU-related oral-facial-digital syndrome XVII: Clinical spectrum of a rare disorder.
American journal of medical genetics. Part AAssociation of Nephronophthisis 4 genetic variation with cardiorenal syndrome and cardiovascular events in Japanese general population: the Yamagata (Takahata) study.
Heart and vesselsTtc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease.
Proceedings of the National Academy of Sciences of the United States of AmericaMolecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.
Structure (London, England : 1993)Congenital hepatic fibrosis and its mimics: a clinicopathologic study of 19 cases at a single institution.
Diagnostic pathologyA girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis.
CEN case reportsSensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings.
Molecular syndromologyAn Nphp1 knockout mouse model targeting exon 2-20 demonstrates characteristic phenotypes of human nephronophthisis.
Human molecular geneticsPruritus Features in Children with End-Stage Renal Disease Underwent Dialysis: A Cross-Sectional Study.
International journal of pediatricsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Nefronoptise.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Nefronoptise
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- The SLC41 Family of Magnesium Transporters: Molecular Regulators of Magnesium Homeostasis and Their Multifaceted Roles in Human Diseases.
- Refractory Rickets: Evaluation and Management.
- Rapidly Progressive Kidney Failure With Transient Non-Cystic Kidney Enlargement: A Case Report Highlighting Delayed Medullary Cyst Formation.
- Urothelial Carcinoma of the Bladder Following BK Virus Infection in a Pediatric Kidney Transplant Recipient.
- Systemic and Ocular Manifestations of a Ciliopathy: A Case Report of Renal-Retinal Involvement in Senior-Loken Syndrome.
- Renal Tubule-Specific Deletion of Nephrocystin 3 (Nphp3) Causes Infantile Nephronophthisis-like Phenotypes in Mice.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:655(Orphanet)
- MONDO:0019005(MONDO)
- GARD:206(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1257011(Wikidata)
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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
