Cystic fibrosis is a genetic disorder that causes thick, sticky mucus to build up in the lungs and digestive tract. It is caused by mutations in the CFTR gene that result in abnormal ion transport in epithelial cells. Symptoms often appear in childhood and include issues with the lungs like infections and breathing problems as well as problems with digestion. Treatment focuses on airway clearance techniques like chest physiotherapy and antibiotics to manage lung infections along with enzyme supplements, vitamins, and diet to manage digestive symptoms. While treatment has improved life expectancy, cystic fibrosis remains a progressive disease without a cure.

1. CYSTIC FIBROSIS Dr S Sen Specialist Registrar North Western Deanery

5. GENETICS

11. Cl symp// FH//+ve screen further tests if S/S Add cl feat Dx conf No CFTR 1 CFTR 2 CFTR genotype Dx conf Cl 40-60 Cl>60 Rpt if S/S Rpt Rpt Cl<40 Cl 40-60 Cl>60 Sweat test

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