Cystic fibrosis

Definition

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.

Also known as CF, cystic fibrosis, cystic fibrosis lung disease, modifier of, mucoviscidosis, pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis — per MONDO

Also identified as

• DOID 1485 per MONDO
• ICD10CM E84 per MONDO
• ICD9 277.0 per MONDO
• MESH D003550 per MONDO
• NCIT C2975 per MONDO
• OMIM 219700 per MONDO
• Orphanet 586 per MONDO
• SCTID 190905008 per MONDO
• UMLS C0010674 per MONDO

Drugs indicated