Cystic fibrosis (mucoviscidosis)

Abstract

Cystic fibrosis (CF), called mucoviscidosis, is an autosomal recessive genetic disorder that mostly affects the lungs and gastrointestinal tract.CF is caused by gene mutations leading to an absence or dysfunction of a protein called "cystic fibrosis transmembrane conductance regulator (CFTR). Although there are no curative therapies currently available, the life expectancy of individuals suffering from CF has gone up quite steadily over the past few decades. In Canada, for instance, CF median survival has risen from 24 years in 1982 to 51.8 years in 2014. It is now well documented that the CFTR protein's main function is to conduct chloride across the epithelial apical membranes of several organs such as the upper and lower respiratory tracts, sweat glands, pancreatic ducts, biliary canaliculi, intestines, and vas deferens. Mutations have been grouped into six different classes based on the mechanism by which they lead to CFTR dysfunction. The only cystic fibrosis clinical manifestation that correlates with CFTR genotype is exocrine pancreatic insufficiency.