CFTR gene — defect causes CF?
Yes, mutations impair chloride channel function.
Autosomal recessive — inheritance pattern?
Requires two mutated copies for disease expression.
Median age of CF diagnosis?
Approximately 23 days.
CFTR protein — role?
Regulates ion flux across epithelial cell membranes.
Thick mucus — consequence of CF?
Decreased ion and water transport.
Sweat chloride test — diagnostic?
Chloride >60 mmol/L confirms CF.
Most common CF mutation?
F508del mutation.
CFTR modulators — example?
Ivacaftor targets specific mutations.
Lung disease hallmark?
Mucus plugging and recurrent infections.
Pancreatic insufficiency — effect?
Malabsorption and poor growth.
CF-related diabetes — cause?
Pancreatic damage leading to insulin deficiency.
Male infertility — cause?
Absent vas deferens (CBAVD).
Liver complication in CF?
Biliary cirrhosis and portal hypertension.
CF management team?
Multidisciplinary: doctors, physiotherapists, dietitians, etc.
CF lung infection — common pathogen?
Pseudomonas aeruginosa.
Gastrointestinal issue — common in CF?
Steatorrhea from pancreatic exocrine insufficiency.
CFTR mutation — effect on phenotype?
Mutation type does not strongly predict severity.
Reproductive issues in CF?
Male infertility (absent vas deferens); female often fertile.
Teste tes connaissances avec un QCM de 9 questions sur Cystic Fibrosis: Pathophysiology and Management.
1. What is the primary role of the CFTR protein in cystic fibrosis?
2. What key property of the CFTR protein is primarily responsible for maintaining proper mucus hydration in epithelial tissues?
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