Cystic Fibrosis

Question 1

Definition of Cystic Fibrosis.

Answer 1

Autosomal recessive mutation of CFTR gene (usually Phe508) leading to impaired clorine secretion which results in hyperviscosity of lungs/pancreas/GI secretions.
High sodium in sweat.

Question 2

Clinical Presentation and Complications of Cystic Fibrosis

Answer 2

■ Lungs: productive cough, dyspnea, recurrent infections (SA, Pseudomonas), eventual bronchiectasis and respiratory failure.

■ GI: meconium ileus, rectal prolapse, GERD, bile obstruction.

■ Pancreas: malabsorption due to exocrine pancreatic insufficiency, loss of insulin production, chronic pancreatitis/fibrosis.

■ Infertility: congenital absence of vas deferens

Question 3

Diagnosis of Cystic Fibrosis

Answer 3

Initially perform sweat test there should be high Chloride .
Afterwards genetic screening.

Question 4

Treatment of Cystic Fibrosis