cystic fibrosis

Description

Diagnosis of CF requires **one clinical indicator** (positive newborn screen, symptoms consistent with CF, or family history) **plus one functional/genetic indicator**: 1. Sweat chloride concentration ≥60 mmol/L, or 2. Identification of two CF-causing CFTR pathogenic variants, or 3. Abnormal nasal potential difference measurement See also CFTR-related disorders (MONDO:7770004), which involve CFTR dysfunction limited to a single organ system and do not meet CF diagnostic criteria.; Autosomal recessive disorder caused by pathogenic variants in the CFTR gene (cystic fibrosis transmembrane conductance regulator), which encodes a chloride and bicarbonate channel expressed in epithelial cells, and follow the diagnosis criteria. Diagnosis requires evidence of CFTR dysfunction, defined as a sweat chloride concentration of 60 mmol/L or greater, or identification of two CF-causing CFTR pathogenic variants, or an abnormal nasal potential difference measurement. CF is a progressive, multi-organ disease characterized by chronic obstructive lung disease with recurrent infections, exocrine pancreatic insufficiency, intestinal obstruction (including meconium ileus in neonates), male infertility due to obstructive azoospermia, hepatobiliary complications, and elevated sweat chloride concentrations.