cystic fibrosis (redirected from fibrosis)

cystic fibrosis (sĭs`tĭk fībrō`sĭs), inherited disorder of the exocrine glands (see gland), 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) and the administration of vitamins, pancreatin, and antibiotics

Types of Antibiotics

.....  to ward off secondary infections. Special measures are necessary to decrease the viscosity of pulmonary secretions; aerosol application of recombinant human DNase, an enzyme that digests the sticky extracellular DNA that helps form these viscous secretions, was approved in 1993. In some cases lung transplantation (see transplantation, medical) is helpful. The identification of the abnormal gene (1989) paved the way for gene therapy aimed at altering the genetic structure by transferring to the patient cells with normal CFTR genes.

Identification of the genes has also made tests for genetic screening and diagnosis possible. Evolutionary biologists have suggested that the gene, which must be inherited from both parents to cause the disorder, affords carriers some protection against cholera, a disease that kills through profound loss of fluids.

Bibliography

See P. Davis, Cystic Fibrosis (1993); M. E. Hodson and D. M. Geddes, Cystic Fibrosis (1994).

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cystic fibrosis (CF)

 or mucoviscidosis

Inherited metabolic disorder characterized by production of thick, sticky mucus. It is recessive (see recessiveness) and the most common inherited disorder (about 1 per 2,000 live births) in those of European ancestry. Concentrated mucous secretions in the lungs plug the bronchi, making breathing difficult, promoting infections, and producing chronic cough, recurrent pneumonia, and progressive loss of lung function, the usual cause of death. The secretions interfere with digestive enzymes and block nutrient absorption. Abnormally salty sweat is the basis for diagnosis of cystic fibrosis. Treatment includes enzyme supplements, a diet high in calories, protein, and fat, vigorous physical therapy, and antibiotics. Persons with cystic fibrosis once seldom survived beyond childhood; now more than half reach adulthood, though males are usually sterile.