Cystic fibrosis

Basics

Cystic fibrosis is an inherited autosomal recessive condition.

Commonest cause of chronic suppurative lung disease in Caucasian children.

Caused by defect in a gene that encodes a protein CFTR (cystic fibrosis transmembrane conductance regulator) that serves as a chloride channel.

This defect leads to excessively thick and tenacious mucus, obstructive of the pancreatic duct with inspissated secretions, and elevated sweat chloride and sodium concentration.