Cystic Fibrosis

Alternate Name: Fibrocystic Disease

Test:

Sweat chloride (H), intrauterine chorionic villus sampling (AB), specific PCR (+), S.pancreatic en¬zymes (L), B.imrnunoreactive trypsin (L), faecal fat (H)

Sign:

Salty taste to skin, clubbing of fingers, hae¬moptysis

Dd:

Malnutrition, malabsorption syndromes, ileus, chronic bronchitis, emphysema, cirrhosis

Phys:

Clinical syndrome characterised by fibrosis and cyst formation in the pancreas, steatorrhoei, electrolyte disturbances and pathological changes to the lungs. Transmitted as an autoso¬mal recessive trait