Fibrose cística (FC) é uma doença genética caracterizada pela produção de suor com muito sal e de muco (catarro) mais grosso e pegajoso que o normal.
Introdução
O que você precisa saber de cara
Fibrose cística (FC) é uma doença genética caracterizada pela produção de suor com muito sal e de muco (catarro) mais grosso e pegajoso que o normal.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 19 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 56 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
20 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Amino acid transporter that plays an important role in the absorption of amino acids in the intestinal tract. Mediates the uptake of a broad range of neutral and cationic amino acids (with the exception of proline) in a Na(+)/Cl(-)-dependent manner (PubMed:10446133). Transports non-alpha-amino acids such as beta-alanine with low affinity, and has a higher affinity for dipolar and cationic amino acids such as leucine and lysine (PubMed:18599538). Can also transport carnitine, butirylcarnitine and
MembraneApical cell membrane
Binds to the Fc region of immunoglobulins gamma. Low affinity receptor. By binding to IgG it initiates cellular responses against pathogens and soluble antigens. Promotes phagocytosis of opsonized antigens
Cell membrane
Macrophage-specific antiporter that fluxes metal ions in either direction against a proton gradient. Localized to late endosomal lysosomal membranes, delivers bivalent cations from the cytosol into these acidic compartments where they may directly affect antimicrobial activity (PubMed:11237855). Involved in iron metabolism and host natural resistance to infection with intracellular parasites. Pathogen resistance involves sequestration of Fe(2+) and Mn(2+), cofactors of both prokaryotic and eukar
Late endosome membraneLysosome membrane
Transforming growth factor beta-1 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains, which constitute the regulatory and active subunit of TGF-beta-1, respectively Required to maintain the Transforming growth factor beta-1 (TGF-beta-1) chain in a latent state during storage in extracellular matrix (PubMed:28117447). Associates non-covalently with TGF-beta-1 and regulates its activation via interaction with 'milieu molecules',
Secreted, extracellular space, extracellular matrixSecreted
Camurati-Engelmann disease
An autosomal dominant disorder characterized by hyperostosis and sclerosis of the diaphyses of long bones. The disease typically presents in early childhood with pain, muscular weakness and waddling gait, and in some cases other features such as exophthalmos, facial paralysis, hearing difficulties and loss of vision.
Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of binding affinities for ET-A is: ET1 > ET2 >> ET3
Cell membrane
Mandibulofacial dysostosis with alopecia
A form of mandibulofacial dysostosis, a disorder characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids. MFDA features include maxillary dysmorphism with dysplastic zygomatic arch, hypoplastic mandible, scalp alopecia, scant eyebrows and eyelashes, severe hypoplasia or aplasia of eyelids, small cupped dysplastic ears, conductive hearing loss, cleft palate, dental anomalies, micrognathia, and limited jaw mobility.
The anti-Muellerian hormone (AMH) plays an important role in several reproductive functions (PubMed:14742691, PubMed:34155118, PubMed:3754790, PubMed:8469238). Anti-Muellerian hormone binds and activates AMHR2, its specific type-II receptor, that heterodimerizes with type-I receptors (ACVR1 and BMPR1A) to regulate target gene expression through downstream SMAD protein signal transduction (PubMed:20861221, PubMed:34155118). Produced and secreted by Sertoli cells of the male fetus, anti-Muellerian
Secreted
Persistent Muellerian duct syndrome 1
A form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.
Plays an essential role in hormone and neurotransmitter calcium-dependent exocytosis and endocytosis (PubMed:26635000). Part of the SNARE (Soluble NSF Attachment Receptor) complex composed of SNAP25, STX1A and VAMP2 which mediates the fusion of synaptic vesicles with the presynaptic plasma membrane. STX1A and SNAP25 are localized on the plasma membrane while VAMP2 resides in synaptic vesicles. The pairing of the three SNAREs from the N-terminal SNARE motifs to the C-terminal anchors leads to the
Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membraneSynapse, synaptosomeCell membraneSecreted
Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. May govern uptake and detoxification of both endogenous compounds and xenobiotics at the testis and brain blood barriers
Cytoplasm
Intermediate conductance calcium-activated potassium channel that mediates the voltage-independent transmembrane transfer of potassium across the cell membrane through a constitutive interaction with calmodulin which binds the intracellular calcium allowing its opening (PubMed:10026195, PubMed:10961988, PubMed:11425865, PubMed:15831468, PubMed:17157250, PubMed:18796614, PubMed:26148990, PubMed:9326665, PubMed:9380751, PubMed:9407042). The current is characterized by a voltage-independent activat
Cell membraneCell projection, ruffle membrane
Dehydrated hereditary stomatocytosis 2
An autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. Erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. Affected individuals typically manifest mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Their red cells exhibit a panel of various shape abnormalities such as elliptocytes, hemighosts, schizocytes, and very rare stomatocytic cells. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur.
Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:12529365, PubMed:12588899, PubMed:12727866, PubMed:15010471, PubMed:17036051, PubMed:1712898, PubMed:17182731, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:26846474, PubMed:2808770
Apical cell membraneEarly endosome membraneCell membraneRecycling endosome membraneEndoplasmic reticulum membraneNucleus
Cystic fibrosis
A common generalized disorder of the exocrine glands which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive.
May be involved in mediating calcium-activated chloride conductance
Cell membraneApical cell membraneSecreted
Catalyzes the ATP-dependent ligation of L-glutamate and L-cysteine and participates in the first and rate-limiting step in glutathione biosynthesis
Anemia, congenital, non-spherocytic hemolytic, 7
An autosomal recessive disease characterized by hemolytic anemia, glutathione deficiency, myopathy, late-onset spinocerebellar degeneration, and peripheral neuropathy.
Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin
Cell membrane
Hemochromatosis 1
A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.
Ion transporter that can act both as an ion channel and anion exchanger (PubMed:15800055, PubMed:17673510, PubMed:26801567, PubMed:32818062). Mainly acts as a chloride channel, which mediate uncoupled chloride anion transport in an alternate-access mechanism where a saturable binding site is alternately exposed to either one or the other side of the membrane (PubMed:17673510, PubMed:26801567, PubMed:32818062). Also acts as a DIDS- and thiosulfate- sensitive anion exchanger the exchange of chlori
Cell membraneEndomembrane system
Plasma membrane Na(+)/H(+) antiporter (PubMed:18829453, PubMed:26358773, PubMed:35613257). Exchanges intracellular H(+) ions for extracellular Na(+) in 1:1 stoichiometry, playing a key role in salt and fluid absorption and pH homeostasis (By similarity). Major apical Na(+)/H(+) exchanger in kidney and intestine playing an important role in renal and intestine Na(+) absorption and blood pressure regulation (PubMed:24622516, PubMed:26358773)
Apical cell membraneCell membraneRecycling endosome membraneEarly endosome membrane
Diarrhea 8, secretory sodium, congenital
A disease characterized by watery secretory diarrhea with prenatal onset, prominent abdominal distension after birth due to dilated fluid-filled loops of intestine, elevated fecal sodium concentrations and low urinary sodium concentrations.
Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules
Cytoplasm, cytoskeletonCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, stress fiberCytoplasm, cell cortexCytoplasm, myofibril, sarcomere
Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form inhibits insulin-induced NO synthesis in platelets, decreases coagulation time and has proteolytic activity against insulin and plasmin Reversible chymotrypsin inhibitor. It also inhibits elastase, but not trypsin. Its major physiological function is the protection of the lower respira
SecretedEndoplasmic reticulumSecreted, extracellular space, extracellular matrix
Alpha-1-antitrypsin deficiency
An autosomal recessive disorder characterized by serum levels of alpha-1-antitrypsin below the normal range, and an increased risk for developing pulmonary emphysema and, to a lesser extent, chronic liver disease. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age.
Catalyzes the oxidative cleavage of heme at the alpha-methene bridge carbon, released as carbon monoxide (CO), to generate biliverdin IXalpha, while releasing the central heme iron chelate as ferrous iron (PubMed:11121422, PubMed:19556236, PubMed:7703255). Affords protection against programmed cell death and this cytoprotective effect relies on its ability to catabolize free heme and prevent it from sensitizing cells to undergo apoptosis (PubMed:20055707) (Microbial infection) During SARS-COV-2
Endoplasmic reticulum membrane
Heme oxygenase 1 deficiency
A disease characterized by impaired stress hematopoiesis, resulting in marked erythrocyte fragmentation and intravascular hemolysis, coagulation abnormalities, endothelial damage, and iron deposition in renal and hepatic tissues. Clinical features include persistent hemolytic anemia, asplenia, nephritis, generalized erythematous rash, growth retardation and hepatomegaly.
Major granulocyte receptor mediating recognition and efficient opsonin-independent phagocytosis of CEACAM-binding microorganisms, including Neissiria, Moxarella and Haemophilus species, thus playing an important role in the clearance of pathogens by the innate immune system. Responsible for RAC1 stimulation in the course of pathogen phagocytosis
Membrane
Cell surface glycoprotein that plays a role in cell adhesion and tumor progression (PubMed:10910050, PubMed:11590190, PubMed:1378450, PubMed:16204051, PubMed:2022629, PubMed:2803308, PubMed:8776764). Intercellular adhesion occurs in a calcium- and fibronectin-independent manner (PubMed:16204051, PubMed:2022629). Mediates homophilic and heterophilic cell adhesion with other carcinoembryonic antigen-related cell adhesion molecules, such as CEACAM5 and CEACAM8 (PubMed:11590190, PubMed:16204051, Pub
Cell membraneApical cell membraneCell surface
Medicamentos e terapias
Mecanismo: Cystic fibrosis transmembrane conductance regulator stabiliser
Mecanismo: Cystic fibrosis transmembrane conductance regulator positive modulator
Mecanismo: Cystic fibrosis transmembrane conductance regulator positive modulator
Mecanismo: 80S Ribosome modulator
Variantes genéticas (ClinVar)
201 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 5,440 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
86 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 — Fibrose cística
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
20 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 22.311
Response to modulator therapy in a cystic fibrosis patient with a single identified CFTR variant not eligible for modulator treatment.
Este artigo relata um caso importante de fibrose cística (FC) onde uma paciente com uma variante rara do gene CFTR (W1282X), inicialmente sem elegibilidade clara para terapia moduladora, obteve melhorias clínicas notáveis. Após apenas um mês de tratamento auto-financiado com elexacaftor/tezacaftor/ivacaftor (ETI), ela demonstrou aumento do FEV1 (12%), redução drástica do cloreto no suor (de 83 para 9 mEq/L) e melhora do IMC, levando à aprovação do tratamento contínuo. Para pacientes e médicos, isso enfatiza a necessidade crucial de facilitar o acesso a terapias moduladoras para variantes raras da FC, pois a resposta clínica na vida real pode ser profundamente benéfica e servir como um forte indicador de eficácia, mesmo quando a elegibilidade inicial ou estudos in vitro não são conclusivos.
🇧🇷 traduzidoEffectiveness of exercise training in people with non-cystic fibrosis bronchiectasis with and without COPD.
Este estudo multicêntrico demonstra que a reabilitação pulmonar, incluindo treinamento de exercícios, melhora significativamente a capacidade de exercício e outros resultados importantes para o paciente (como a redução da falta de ar e fadiga) em pessoas com bronquiectasia não-fibrose cística, seja com ou sem Doença Pulmonar Obstrutiva Crônica (DPOC) concomitante. Os benefícios observados foram equivalentes em ambos os grupos de pacientes, indicando que a reabilitação pulmonar deve ser rotineiramente oferecida a todos com bronquiectasia não-fibrose cística, independentemente da presença de DPOC.
🇧🇷 traduzidoIntestinal Ultrasound Scan in Acute Severe Ulcerative Colitis in children: a multicenter prospective study on behalf of the Porto IBD Working Group of ESPGHAN.
Este estudo demonstrou que o ultrassom intestinal (USI) é uma ferramenta não invasiva e eficaz para médicos e pacientes pediátricos com colite ulcerativa aguda grave. Ele pode prever precocemente quais crianças não responderão à terapia inicial com corticosteroides, indicando a necessidade de tratamentos mais avançados, como medicamentos biológicos ou cirurgia, e permitindo decisões mais rápidas e personalizadas para otimizar o cuidado.
🇧🇷 traduzidoInhibition of MAPK p38α overcomes the cancer immunosurveillance defect caused by FPR1 loss-of-function mutation.
Este artigo revela que um defeito genético no receptor FPR1 compromete a vigilância imunológica, aumentando o risco de cânceres epiteliais. No entanto, descobriu-se que inibidores da proteína MAPK p38α podem corrigir essa falha, restaurando a função das células imunológicas e melhorando a resposta a tratamentos de câncer em modelos animais, além de prevenir o desenvolvimento acelerado de câncer colorretal. Isso sugere uma promissora nova estratégia para prevenir e tratar certos tipos de câncer em pacientes com essa mutação. *É importante notar que o resumo fornecido não menciona Fibrose Cística; o foco é na relação entre FPR1, imunidade e câncer.*
🇧🇷 traduzidoInterkingdom signaling elicited by bacterial extracellular vesicles in human cystic fibrosis airway epithelium and neutrophils.
Este estudo revelou que nos pulmões de pacientes com fibrose cística (FC), bactérias como a *Pseudomonas aeruginosa* e as células humanas (epitélio e neutrófilos) se comunicam ativamente através de pequenas "bolhas" chamadas vesículas extracelulares (EVs). As EVs bacterianas impactam diretamente a resposta das células dos pacientes, afetando a liberação de suas próprias EVs e o comportamento dos neutrófilos, que são cruciais na inflamação. Compreender essa comunicação é fundamental para que médicos e pacientes possam desenvolver novas estratégias para controlar as infecções crônicas e a inflamação pulmonar na FC.
🇧🇷 traduzidoPublicações recentes
Optimizing cystic fibrosis-related diabetes screening in adults using the oral glucose tolerance test (OGTT): a single center mixed methods study.
Predictors of quality of life in parents of children with rare diseases: a tertiary care center cross-sectional study in Saudi Arabia.
Polymicrobial extracellular vesicles reduce the innate immune response of human cystic fibrosis bronchial epithelial cells.
Nanoparticle-mediated mRNA delivery for cancer, autoimmunity, and genetic diseases: a rapid review.
Glucagon-Like Peptide-1 Receptor Agonists: Their Therapeutic Potential in Cystic Fibrosis.
📚 EuropePMC36.875 artigos no totalmostrando 194
Advanced Lung Cancer Inflammation Index (ALI) as an Independent Predictor for Bronchiectasis Exacerbation Risks.
Journal of inflammation researchJugular Vein Occlusion-Induced Intracranial Hypertension Mimicking Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulator-Associated Intracranial Hypertension: A Diagnostic Pitfall.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyMicrobial signatures and host immune responses associated with the development of ventilator-associated pneumonia among patients with neurological injuries.
Microbiology spectrumTargeting PI3Kγ anchoring enhances CFTR membrane localization and modulator efficacy via PKD1.
JCI insightEffectiveness of exercise training in people with non-cystic fibrosis bronchiectasis with and without COPD.
Frontiers in rehabilitation sciencesDevelopment of CpG-Depleted CFTR Plasmid-Based Nanoparticles for Nonviral Gene Therapy in Lung Cystic Fibrosis Disease.
The journal of gene medicineInhalable gene and RNA therapy for cystic fibrosis: perspectives and progress in clinical development.
Nanomedicine (London, England)Iloprost-loaded inhalable Nano into Micro (NiM) formulations for treating hyper-inflammation in a pre-clinical model of cystic fibrosis airway epithelial cells.
Drug delivery and translational researchRecalibration: Exploring the Impact of Elexacaftor/Tezacaftor/Ivacaftor on Self-Concept for Adults with Cystic Fibrosis.
The patientColistin-stabilized antisolvent precipitation enables engineering of microcrystalline niclosamide for inhalable composite powders.
International journal of pharmaceuticsGenome-wide association study reveals two novel genetic loci associated with chronic lung allograft dysfunction.
The Journal of heart and lung transplantation : the official publication of the International Society for Heart TransplantationEvaluation of the methodology of independent Community Advisory Boards in health products research and development: a mixed-methods cross-sectional survey study.
Research involvement and engagementDeterminants of early Elexacaftor-Tezacaftor-Ivacaftor use in adults with cystic fibrosis and preserved lung function: insights from a European multicenter survey.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis SocietyChanges to serum lipids, BMI and body composition in adults with cystic fibrosis on Elexacaftor/Tezacaftor/Ivacaftor (ETI): A scoping review.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis SocietyApical hyperosmotic challenge upregulates aquaporin-3 in human airway epithelia.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis SocietyRhinovirus Infection Promotes Suppression of Sphingosine and Enhanced Bacterial Infection in Cystic Fibrosis Airways.
The Journal of biological chemistryThe challenges of detecting neutrophil CFTR.
Journal of innate immunityOne Size May Not Fit All: A Case Series.
Pediatric pulmonologyAntimicrobial Pharmacokinetic and Pharmacodynamic Considerations in Special Populations: A Call to Action.
Open forum infectious diseasesBowel preparation for colonoscopy in children: a survey of the Italian society of pediatric gastroenterology, hepatology and nutrition.
Italian journal of pediatricsSafety of inhaled levofloxacin in people with cystic fibrosis: Data from UK and German Registries.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society[Allergic bronchopulmonary aspergillosis in internal medicine].
La Revue de medecine interneValidity of Alfred Step Test Exercise Protocol (A-STEP) as a Surrogate VO2Max Cardiopulmonary Exercise Test (CPET) to Cycle Ergometry in Adults With Cystic Fibrosis.
Canadian respiratory journalHyperammonemia syndrome due to Pluralibacter gergoviae bacteremia in an immunocompromised patient: case report.
ASM case reportsMicrobiological outcomes associated with Burkholderia species in people with cystic fibrosis receiving CFTR modulator therapy.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis SocietyDocumentation practices of cystic fibrosis (CF) pharmacists: An opportunity for discipline-wide quality improvement.
Journal of the American Pharmacists Association : JAPhAIntestinal Ultrasound Scan in Acute Severe Ulcerative Colitis in children: a multicenter prospective study on behalf of the Porto IBD Working Group of ESPGHAN.
GastroenterologyInhibition of MAPK p38α overcomes the cancer immunosurveillance defect caused by FPR1 loss-of-function mutation.
Cell reports. MedicineHarnessing metabolomics and proteomics in a clinical trial for pulmonary arterial hypertension: insights from post-hoc analysis of the REHAB-PH trial.
EBioMedicineEffect of Elexacaftor/Tezacaftor/Ivacaftor Treatment on Extrapulmonary Complications of Cystic Fibrosis.
Advances in therapy[Transition and transfer from pediatrics to adult medicine].
Wiener medizinische Wochenschrift (1946)Bioengineered 3D hPSC-Cholangiocyte Ducts With Physiological Signals for Biliary Disease Modeling.
Advanced healthcare materialsGlobal Collaboration in Cystic Fibrosis: Lessons From the COVID-19 Pandemic for Low- and Middle-Income Countries.
Pediatric pulmonologyInterkingdom signaling elicited by bacterial extracellular vesicles in human cystic fibrosis airway epithelium and neutrophils.
Frontiers in cellular and infection microbiologyLong-term impact of elexacaftor/tezacaftor/ivacaftor on small and large airways in people with cystic fibrosis aged ≥6 years: 24-month real-world evidence from the German Cystic Fibrosis Registry.
ERJ open researchClinical profile and in-hospital outcomes of patients hospitalised for bronchiectasis exacerbation.
ERJ open researchEvaluation of ATP12A and NFKBIZ as potential markers of inflammatory status in cystic fibrosis airway epithelial cells.
Inflammation research : official journal of the European Histamine Research Society ... [et al.]Advancements in Sweat Testing Techniques for Cystic Fibrosis: From Classical to Novel Methods.
Pediatric pulmonologyThe Human Cost of Respiratory Care: Professional Quality of Life and Burnout across Multidisciplinary Cystic Fibrosis Teams.
ChestSafety and efficacy of elexacaftor/tezacaftor/ivacaftor in adolescents and adults with cystic fibrosis and F508del-gating and F508del-residual function genotypes: Results from an open-label extension study.
Annals of the American Thoracic SocietyN-acetylglucosamine utilization and impact on antibiotic susceptibility, oxidative stress tolerance, and swimming in Stenotrophomonas maltophilia.
Microbiology spectrumComplete genome sequences of Pseudomonas aeruginosa clone C strains 8277, PT31M, and SG50M isolated from the urinary tract and anthropogenic water environments.
Microbiology resource announcementsRenal Function Decline in Adults with Cystic Fibrosis Experiencing Pulmonary Exacerbations.
Annals of the American Thoracic SocietyBeta cell function and insulin sensitivity during elexacaftor/tezacaftor/ivacaftor therapy in people with cystic fibrosis.
Frontiers in endocrinologyThe natural human adaptive IgG-specific immune response is skewed towards non-protective tail domains of DNABII proteins.
Frontiers in immunologyDevelopment and Validation of an Electronic Health Record Algorithm to Predict the Presence of Chronic Obstructive Pulmonary Disease.
International journal of chronic obstructive pulmonary diseaseResearch Progress on the Mechanisms of High Mucus Secretion in the Airway: A Scoping Review.
International journal of chronic obstructive pulmonary diseaseStopping an outbreak of Pseudomonas aeruginosa ST111 by temporarily blocking the siphon to disinfect it before the transition to the wastewater drain.
GMS hygiene and infection controlCapsaicinoids prevent intestinal fluid secretion and motility by inhibiting chloride channels.
Journal of ethnopharmacologyMucus and inflammation in the HEMT Era: Persistent barriers to complete airway normalization in cystic fibrosis.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis SocietyRelationships between lung ultrasound, chest CT, and echocardiographic findings in children with bronchopulmonary dysplasia: A multimodal imaging study.
Respiratory medicineCurrent State of Clinical Care of People With Cystic Fibrosis.
PharmacotherapyDensity fluctuations of Burkholderia and Achromobacter in cystic fibrosis sputum.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis SocietyFetal Transplacental Therapy to Mitigate Consequences of Cystic Fibrosis.
Clinical therapeuticsDetermining the Minimal Clinically Important Difference of the 40-Item Smell Identification Test in People With Cystic Fibrosis.
International forum of allergy & rhinologyPrevalence of Overweight and Obesity in the Era of CFTR Modulators in Patients with Cystic Fibrosis.
NutrientsEarly Life Nutrition: The First 1000 Days and Healthy Aging in Cystic Fibrosis.
NutrientsA Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.
International journal of molecular sciencesAntenatal CFTR Modulators to Treat a Healthy Pregnant Woman with a Fetus Affected by Cystic Fibrosis Complicated by Meconium Ileus and Intestinal Volvulus: From a Suspicion of the Disease to a Targeted Treatment in Utero: Case Report and Narrative Review.
Journal of clinical medicineCerebral Desaturation in Cystic Fibrosis Patients Undergoing Double Lung Transplantation.
Respiratory medicineOptimizing Reproductive Autonomy in Cystic Fibrosis: The Role of Oocyte Cryopreservation.
Journal of reproduction & infertilityThe Multidisciplinary Support To Access living donor Kidney Transplant (MuST AKT) intervention: A Pilot Randomized Controlled Trial.
Transplant international : official journal of the European Society for Organ TransplantationMuscle Dysfunction and Bone Loss in a Woman With Cystic Fibrosis and Obesity Treated With Glucagon-Like Peptide 1 Agonist: A Case Report.
Respirology case reportsBrachial artery flow-mediated dilation is less repeatable in children with a chronic inflammatory disease compared to their healthy peers.
Clinical physiology and functional imagingEffect of an airway clearance technique on nebulized drug delivery in patients with CF: A randomized cross-over trial.
PhysiotherapyOutcomes of SARS-CoV-2 infection post-solid organ transplantation in the cystic fibrosis population.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis SocietyAssociation of proteins involved in fetal lung development with respiratory outcomes in infancy.
Respiratory medicineEvidence of sex-related differences in vascular health among people with cystic fibrosis.
Respiratory medicineInnovative methodologies for elucidating bushfire smoke-induced pathophysiological mechanism.
The Science of the total environmentDraft genome sequences of 109 gut bacteria isolated from colonoscopy samples of individuals with and without cystic fibrosis.
Microbiology resource announcementsHypochloremic Hypokalemic Metabolic Alkalosis as a Manifestation of CFTR-Related Disorder.
Pediatric pulmonologyEtiologies of chronic cough in children: a two-year experience from a tertiary pediatric pulmonology center.
Turkish journal of medical sciences[Evolution of thoracic computed tomography after therapy with elexacaftor, tezacaftor, and ivacaftor in patients with cystic fibrosis].
Revue medicale de LiegeImproved Quality of Life in Children With Cystic Fibrosis Who Received Transmembrane Conductance Regulator Modulators.
Acta paediatrica (Oslo, Norway : 1992)CRISPR-Cas9 genome editing in the parental iPSC line PCIi033-A to introduce the homozygous mutation p.F508del (c.1521_1523del) in the CFTR gene.
Stem cell researchThe impact of progressive expansion of elexacaftor-tezacaftor-ivacaftor availability on lung transplant for cystic fibrosis in France.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis SocietyDiscussing the potential health impacts of carrying a single CF-causing CFTR mutation during consult with people with CF who are planning a pregnancy.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis SocietyYear in review: "Best" papers in pediatric pulmonary and sleep medicine in 2025.
Paediatric respiratory reviewsEvaluation of the effect of modulator therapies on medication complexity in adult cystic fibrosis patients.
Pulmonary pharmacology & therapeuticsLong-Term Adherence to Elexacaftor/Tezacaftor/Ivacaftor in People with Cystic Fibrosis.
Pulmonary therapyThe interplay between temperature and growth phase shapes the transcriptional landscape of Pseudomonas aeruginosa.
Journal of bacteriologyMechanisms of thermoregulation in Pseudomonas aeruginosa.
Journal of bacteriologyPost-marketing safety profile of lumacaftor/ivacaftor in cystic fibrosis treatment: a pharmacovigilance analysis based on FAERS.
Frontiers in medicineDecoding liver injury in cystic fibrosis: How to tell drug-induced liver injury from cystic fibrosis liver disease.
World journal of gastroenterologyUntargeted Metabolomic and Lipidomic Profiling in Cystic Fibrosis Patients Using UPLC-QTOF-MS.
Journal of proteome researchGenetic and clinical characteristics of pediatric patients with cystic fibrosis: a single-center retrospective study in China.
Orphanet journal of rare diseasesAdherence to guidelines, pitfalls, and emerging technologies in endoscopic practice for celiac disease: a nationwide SIGENP survey.
European journal of pediatricsSingle-cell RNAseq identifies persistent epithelial and immune dysfunction in PwCF by mitigating inter-individual sampling heterogeneity.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis SocietyIntegrating cognitive behavioral therapy into specialty care for adolescents with cystic fibrosis: a feasibility trial.
Journal of pediatric psychologyOrganoids for Metabolic Disease Modeling.
Journal of inherited metabolic diseaseCFTR Modulators in Brazil: Not for Everyone-A Comparison of Ineligibility Across Different Regions.
Pediatric pulmonologyAdvancing Mental Healthcare for Individuals With Cystic Fibrosis in Low- and Middle-Income Countries.
Pediatric pulmonologyLoss of Potassium and Chloride Transport Changes PM-Induced Epithelial Dysfunction.
Journal of inflammation research'The Hero's journey': Narratives on the transition to motherhood with cystic fibrosis.
British journal of health psychologyA longitudinal evaluation of localised chronic Pseudomonas aeruginosa infection in cystic fibrosis rat models.
BMC microbiologyMultiple virulence attenuating strategies against Pseudomonas aeruginosa: Natural, synthetic, and synergistic approaches.
World journal of microbiology & biotechnologyTranscriptional regulation of the pneumococcal capsule can dictate serotype-specific infection.
Nature communicationsGegen Qinlian decoction alleviates bacterial diarrhea via Lactobacillus amylovorus-modulated restoration of colonic water transport through the cAMP/CFTR/AQP3 pathway.
Microbial pathogenesismSphere of Influence: Rethinking microbial identity through variability.
mSphereGlycoside hydrolases enhance antibiotic activity against Pseudomonas aeruginosa biofilms from cystic fibrosis airways.
Microbiology spectrumCo-Design of a Novel Telehealth Exercise Model of Care for Adults With Cystic Fibrosis.
Pediatric pulmonologyContemporary outcomes of isolated liver and combined liver-lung transplantation for cystic fibrosis in children.
Journal of pediatric gastroenterology and nutritionBurkholderia cepacia Bacteremia Complicated by Acute Parotid Abscess in a Poorly Controlled Diabetic Patient With Community-Acquired Pneumonia: A Case Report.
CureusDisparities in Access to Cystic Fibrosis Therapy Across Countries.
Pediatric pulmonologyKRAS-elicited PDIA6 blocks PERK-dependent immunogenic cell death in pancreatic carcinoma.
OncoimmunologyCFTR knock-out mice exhibit impaired renal compensation to dietary NaCl depletion.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis SocietyAssessing Dietary Patterns and Composition Among Adults With Cystic Fibrosis Taking Highly Effective Modulator Therapy.
Pediatric pulmonologyMLPA-Detected CFTR Exon Deletions in Children With Inconclusive CFTR Sequencing: A Single-Center Experience From Türkiye.
Pediatric pulmonologyIntegrating the Glycemia Risk Index Into Clinical Practice and Research: A Consensus Report.
Journal of diabetes science and technologyPeripheral muscle oxygenation during upper extremity functional exercise and balance in pediatric patients with cystic fibrosis: a cross-sectional study.
European journal of applied physiologyOutcomes of Kidney Transplantation in Cystic Fibrosis.
Transplantation proceedingsCFTR modulators-induced acne: Case series and analysis of pharmacovigilance databases.
Annales de dermatologie et de venereologieQualitative analysis of genomic mutations and antibiotic susceptibility testing of Pseudomonas aeruginosa isolates from chronic lung infections.
PloS oneCraniofacial development in children with cystic fibrosis.
American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of OrthodonticsBacterial EVs contain small RNAs and transfer RNAs that regulate inflammation in lung infections.
Frontiers in immunologyTherapies for bronchiectasis: mechanisms and potential effects.
Frontiers in immunologyUrinary System Involvement in Children With Cystic Fibrosis: A Single-Center Retrospective Cohort.
Pediatric pulmonologyAssessing the reversibility of bronchiectasis with deep learning - Authors' reply.
The Lancet. Respiratory medicineAssessing the reversibility of bronchiectasis with deep learning.
The Lancet. Respiratory medicineIdentification of CD164 as an essential entry receptor for divergent adeno-associated viruses.
Proceedings of the National Academy of Sciences of the United States of AmericaPseudomonas aeruginosa gene expression changes during established biofilm infection in a cystic fibrosis lung model.
Microbiology (Reading, England)WTC 2025 Highlights: Infectious Disease.
TransplantationLongitudinal observation of severe asthma comorbidities and oral corticosteroids use from SANI and ISAR registries.
The World Allergy Organization journalSex Differences in Muscle-Respiratory Function Relationship in Lung Transplant Patients: A Longitudinal Study.
Journal of cachexia, sarcopenia and muscleOutcomes of beta-blocker use in people living with chronic obstructive pulmonary disease and a co-existent beta-blocker indicated cardiovascular disease. Insights from a global federated network.
BMC pulmonary medicinePredicting pulmonary exacerbations in cystic fibrosis subpopulations and implications for clinical trial design.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis SocietyCystic fibrosis year in review 2025.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis SocietyNeutralization of acyl-CoA-binding protein attenuates glucocorticoid-mediated suppression of cancer immunosurveillance.
Proceedings of the National Academy of Sciences of the United States of AmericaFunctional analysis of purM in Burkholderia cenocepacia using a trimethoprim-selectable allelic exchange and mini-Tn7 complementation approach.
Microbiology spectrumEpithelial plasma membrane transporters as drug targets.
Physiological reviewsWhen Recurrent Pancreatitis Is Not Pancreatitis: Cyclic Vomiting Syndrome Masquerading as Acute Pancreatitis in a Young Adult.
CureusERS Congress 2025: highlights from the Respiratory Infections Assembly.
ERJ open researchCFTR activity in nasal potential difference of adults with idiopathic bronchiectasis.
Respiratory researchImpact of Elexacaftor-Tezacaftor-Ivacaftor on fungal colonisation in children and adolescents with cystic fibrosis.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis SocietyClinical and epidemiological characteristics of nontuberculous mycobacteria pulmonary infections in the healthcare area of Virgen del Rocío University Hospital in Seville (2020-2023).
Enfermedades infecciosas y microbiologia clinica (English ed.)Ultraprocessed Food Consumption and Behavioral Outcomes in Canadian Children.
JAMA network openImplementing Genomic Medicine in Primary Care: A Convergent Mixed Method Case Study.
Journal of evaluation in clinical practiceAquagenic Wrinkling of the Palms as a Screening Indicator for Cystic Fibrosis Beyond Infancy.
CureusA Narrative Review of Gene-Environment Interactions in Pediatric Pulmonology.
Pediatric pulmonologyHarm reduction in paediatric off-label therapy: ethical analysis of early CFTR modulator use in an infant with cystic fibrosis.
Journal of medical ethicsLipopolysaccharide-targeting treatments for multidrug-resistant Pseudomonas aeruginosa.
Expert opinion on therapeutic targetsTowards functional precision medicine? Evidence standards of organoids as patient-specific models.
History and philosophy of the life sciencesPhage isolation and functional characterization reveal strong antibiofilm activity against Pseudomonas aeruginosa in a cystic fibrosis sputum model.
Frontiers in cellular and infection microbiologyPseudomonas aeruginosa Biofilms in Cystic Fibrosis: Interactions, Methods, and Therapeutic Strategies.
BioMed research internationalFeasibility of electrical impedance tomography-guided PEP in children with CF and TBM.
Canadian journal of respiratory therapy : CJRT = Revue canadienne de la therapie respiratoire : RCTRUnraveling 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 reports[MUC1 and SIGIRR as Negative Regulators of TLR Signaling: Expression, Function, and Anti-inflammatory Augmentation].
Yakugaku zasshi : Journal of the Pharmaceutical Society of JapanProlactin signaling in the highly osmotolerant Mozambique tilapia, Oreochromis mossambicus.
General and comparative endocrinologyOpportunistic thoracic CT scan over bone densitometry in CF care: Is it possible to screen for osteoporosis using a CT scan?
Respiratory medicineEffect of vanzacaftor/tezacaftor/ivacaftor on cystic fibrosis nasal epithelial cells and intestinal organoids compared to elexacaftor/tezacaftor/ivacaftor.
Respiratory medicineBeyond readthrough: ataluren restores mitochondrial function and reduces oxidative stress in FANCA-mutated cells via mTOR-DRP1 modulation.
Cell death discovery[Hearing impairment in children with cystic fibrosis].
Vestnik otorinolaringologiiIn Utero CFTR Modulator Therapy in Fetuses With Cystic Fibrosis.
NeoReviewsL-ascorbic acid exerts anti-microbial and anti-virulence effects against multi-drug resistant Burkholderia cepacia complex.
Microbial pathogenesisGenetic strategies for negative or variant of uncertain significance findings in exome sequencing in hereditary bronchiectasis: a case series.
Therapeutic advances in respiratory diseaseLarge variations in total and allele-specific transcript expression in a disease mutation-independent manner.
Scientific reportsAuthor Correction: Phage therapy with nebulized cocktail BX004-A for chronic Pseudomonas aeruginosa infections in cystic fibrosis: a randomized first-in-human trial.
Nature communicationsThe effectiveness and value of brensocatib for the treatment of non-cystic fibrosis bronchiectasis.
Journal of managed care & specialty pharmacySuccessful Management of Chronic Achromobacter xylosoxidans Bronchial Infection With Nebulized Levofloxacin in a Patient With Non-cystic Fibrosis Bronchiectasis.
Archivos de bronconeumologiaDifferent States of Lung Allograft Injury Assessed by Plasma Donor-Derived and Total Cell-Free DNA.
The Journal of molecular diagnostics : JMDDoes it matter how cystic fibrosis transmembrane conductance regulator modulators reduce inflammation in cystic fibrosis?
Annals of the American Thoracic SocietyA state of the union on alpha-1 antitrypsin deficiency at the Veterans Health Administration.
Annals of the American Thoracic SocietyActivation of farnesoid X receptor inhibits TMEM16A-mediated chloride secretion in renal collecting duct cells and retards renal cyst progression.
American journal of physiology. Renal physiologyDeciphering microbial biofilm: mechanism, infection, and advanced approaches for control.
Folia microbiologicaUncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR-F508del Rabbit Model.
International forum of allergy & rhinologyThe regional landscape of the human colon culturome in health and cystic fibrosis.
Microbiology spectrumStreptococcus sanguinis antagonizes Prevotella melaninogenica in the context of the cystic fibrosis respiratory microbiome.
Journal of bacteriologyNormal Values for Respiratory Oscillometry in Pediatrics: An Argument for a Local Control Population.
Pediatric pulmonologyParental Experiences and Coping Strategies of Families Caring for a Child With Cystic Fibrosis.
Pediatric pulmonologyChallenges and Practical Solutions in the Management of Cystic Fibrosis in Resource-Limited Countries: The Indian Experience.
Pediatric pulmonologyThe archaic CUP pilus SMF-1 utilizes a specific antiparallel bundling mechanism to initiate biofilm formation.
bioRxiv : the preprint server for biologyLung retransplantation after initial single lung transplantation.
JHLT open"No Words for Feelings": Alexithymia in Children With Cystic Fibrosis and Their Caregivers.
Pediatric pulmonologyThe Relationship Between Peripheral Eosinophilia, Lower Respiratory Tract Pathogens, Age at First Pneumonia, and Malnutrition in Children with Non-cystic Fibrosis Bronchiectasis.
Thoracic research and practiceInhaled Antibiotic and Biologic Formulations Targeting Pseudomonas aeruginosa.
PharmaceuticsRecent Advances in Inhalation Therapy: An Overview.
Pharmaceuticals (Basel, Switzerland)Biofilm Formation in Aspergillus fumigatus: A Comparative Study of Strains from Different Origins.
MicroorganismsFrom Promise to Practice: Harmonizing Telemedicine in Pediatric Chronic Respiratory Diseases.
Journal of clinical medicineCystic Fibrosis: A Disease with a New Face.
Life (Basel, Switzerland)The Prognostic Significance of Bronchoalveolar Lavage Cellular Analysis in Evaluating Disease Burden in Non-Cystic Fibrosis Bronchiectasis.
Life (Basel, Switzerland)Restoration of Defective CFTR in Human Nasal Respiratory Epithelial Cells by CFTR Modulators and mRNA Transfection.
International journal of molecular sciencesSpecial Issue "Inflammatory Airway Diseases: Diagnosis, Pathology, Molecular Mechanisms and Treatment Options".
International journal of molecular sciencesPhage-Based Approaches to Chronic Pseudomonas aeruginosa Lung Infection in Cystic Fibrosis.
Antibiotics (Basel, Switzerland)Simulation-Driven Annotation-Free Deep Learning for Automated Detection and Segmentation of Airway Mucus Plugs on Non-Contrast CT Images.
Bioengineering (Basel, Switzerland)Drugs Associated with Pediatric Cataracts: A Real-World Pharmacovigilance Study.
Children (Basel, Switzerland)Cystic fibrosis-related diabetes is associated with reduced airway microbial diversity.
Respiratory researchKidney care at NICU discharge and follow-up recommendations for preterm infants<34 weeks.
Journal of perinatology : official journal of the California Perinatal AssociationAlterations of bile acid composition in children with cystic fibrosis compared to healthy controls.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis SocietyNovel translational pulmonary MRI in pediatrics: A Review of the last 10 years.
The European respiratory journalPathology of the Human Temporal Bone in a Rare Case of Combined Usher Syndrome and Cystic Fibrosis.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyRole of Iron Availability in Modulating Pseudomonas aeruginosa's Antifungal Effects on Planktonic and Biofilm Growth of Scedosporium/Lomentospora Under Cystic Fibrosis-Mimicking Conditions.
Journal of fungi (Basel, Switzerland)Metabolic Syndrome Predisposes Ossabaw Minipig Retina to an Early Neurodegenerative Milieu.
CellsBeyond BMI: Nutritional Recovery and Functional Implications of CFTR Modulators in Cystic Fibrosis.
BiologyTowards accurate artificial intelligence models for strain-level phage-host prediction.
Briefings in bioinformaticsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Associação brasileira dedicada a Doenças raras (geral).
Instituto nacional que coordena e lista associações regionais de fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Associação brasileira dedicada a Fibrose cística.
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Fibrose cística
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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.
- Response to modulator therapy in a cystic fibrosis patient with a single identified CFTR variant not eligible for modulator treatment.
- Effectiveness of exercise training in people with non-cystic fibrosis bronchiectasis with and without COPD.
- Intestinal Ultrasound Scan in Acute Severe Ulcerative Colitis in children: a multicenter prospective study on behalf of the Porto IBD Working Group of ESPGHAN.
- Inhibition of MAPK p38α overcomes the cancer immunosurveillance defect caused by FPR1 loss-of-function mutation.
- Interkingdom signaling elicited by bacterial extracellular vesicles in human cystic fibrosis airway epithelium and neutrophils.
- Optimizing cystic fibrosis-related diabetes screening in adults using the oral glucose tolerance test (OGTT): a single center mixed methods study.
- Predictors of quality of life in parents of children with rare diseases: a tertiary care center cross-sectional study in Saudi Arabia.
- Polymicrobial extracellular vesicles reduce the innate immune response of human cystic fibrosis bronchial epithelial cells.
- Nanoparticle-mediated mRNA delivery for cancer, autoimmunity, and genetic diseases: a rapid review.
- Glucagon-Like Peptide-1 Receptor Agonists: Their Therapeutic Potential in Cystic Fibrosis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:586(Orphanet)
- OMIM OMIM:219700(OMIM)
- MONDO:0009061(MONDO)
- Fibrose Cistica(PCDT · Ministério da Saúde)
- GARD:6233(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q178194(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
