Lint: cystic-fibrosis

"Cystic fibrosis (CF), much less commonly known as mucoviscidosis, is a common autosomal recessive genetic disease that affects the exocrine function of the lungs, liver, pancreas, small bowel, sweat glands, and urogenital system."

"Cystic fibrosis is an autosomal recessive inherited genetic disorder that results from a homozygous defect of the cystic fibrosis transmembrane regulator (CFTR) gene on chromosome 7q31.2. The gene encodes for the corresponding CFTR protein, which regulates chloride ion transport across cell membranes. There are over 2000 mutations of the CTFR gene identified to date, with the most common being delF508 (deletion of the codon for phenylalanine at the 508 position) affecting 66% of cases ^6,14."

"class I: mutations resulting in premature stop codons; CFTR expression is severely reduced or absent"

"class II: mutations resulting in CFTR misfolding and increased degradation; functional CFTR reacting the cell surface is reduced"

"class III: mutations that impair regulation of the CFTR channel; abnormal gating with reduced opening"

"class V: mutations of CFTR promotor or splicing; CFTR protein is normal in structure and function, but reduced in number"

"class VI: mutations that reduce stability of CFTR; increased turnover of CFTR and reduced duration at the cell surface"

"Unlike in other tissues, CFTR in sweat glands function in the opposite way, responsible for intracellular chloride ion transport ¹⁶. In patients with cystic fibrosis, the CFTR mutation results in excess chloride, sodium and fluid loss onto the skin surface, hence the use of the sweat test for diagnosis ¹⁶."

"anti-inflammatory therapy (e.g. azithromycin)"

"specific management of complications (e.g. diabetes mellitus, haemoptysis, distal intestinal obstruction syndrome (DIOS), etc.)"