Flashcards: Cystic Fibrosis: Pathophysiology and Management — 18 cards

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.