Name: Cystic fibrosis | Acronym: CF
Alt. names:

Gene: CFTR | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 1989

Last updated on: 2023-02-28 16:41:18 by

OMIM: 219700

Orphanet: 586

MONDO: -

DOID: -

ClinGen:

It is a chronic and generally progressive disease. The initial symptoms are thick secretions and chronic infections in the lung, bulky diarrhea, and short stature. However, any internal organ can be affected, and the main manifestations occur in the respiratory system (chronic bronchitis), the pancreas (pancreatic insufficiency, adolescent diabetes and occasionally pancreatitis) and, more rarely, the intestine (stercoral obstruction) or the liver (cirrhosis). Male sterility is a common trait. Mortality and morbidity depend on the degree of bronchopulmonary involvement, and there are late and less severe forms of the disease.

Current treatments, which are only symptomatic, include: bronchial drainage and antibiotics for respiratory infections; administration of vitamins and caloric supplements for digestive and nutritional problems; and insulin replacement for diabetes. Although these treatments have significantly improved the prognosis of patients, therapies that correct the biochemical defects are being studied. The new CFTR modulators partially restore chloride channel function in 90% of patients, although they are not yet effective for absent, truncated, or severely malformed proteins.