Cystic Fibrosis

Cystic Fibrosis

Cystic Fibrosis, is a genetic disorder of the exocrine glands, affecting children and young people; median survival is 25 years in females and 30 years in males. It is caused by a genetic abnormality in the CF transmembrane conductance regulator (CFTR) gene that results in the disruption of chloride transfer across cell membranes. As a consequence, chloride ions build up in the cells of the lungs and other organs. Water stays inside the cells to dilute the chloride rather than being drawn out of the cells by normal chloride movement and the normal secretions of the organs thicken. Mucus in the exocrine glands becomes thick and sticky and eventually blocks the ducts of these glands (especially in the pancreas, lungs, and liver), forming cysts. The disease also causes the sweat glands to secrete excessive salt, causing heat prostration in hot weather. Symptoms, which vary according to the severity of the condition and the glands involved, include a distended abdomen; diarrhea; bulky, foul-smelling stools; and malnutrition. Medical problems include nasal polyps and sinus disease, repeated respiratory infections, infertility, liver disease, and diabetes. Diagnosis is confirmed by a sweat test or measurement of transmembrane potential.

Treatment consists of dietary adjustment (low fat—high calorie)