CFTRbezogene

CFTRbezogene refers to diseases and conditions that are linked to variants in the CFTR gene but do not necessarily meet the diagnostic criteria for classic cystic fibrosis (CF). The CFTR gene encodes the cystic fibrosis transmembrane regulator, a chloride and bicarbonate channel located on epithelial cell surfaces. Proper CFTR function affects the hydration and viscosity of mucus in the airways, pancreas, and reproductive tracts, influencing disease risk and organ involvement.

Inheritance of CFTR-related conditions is typically autosomal recessive, but the spectrum of mutations is broad. A person with two CFTR variants may develop classic CF with widespread organ involvement, while others may have milder or organ-specific effects. This results in CFTR-related disorders (CFTR-RD), a category used for individuals who have abnormal CFTR function but do not meet the full CF diagnosis.

CFTR-RD includes conditions such as congenital bilateral absence of the vas deferens (CBAVD), bronchiectasis with limited CFTR dysfunction, pancreatitis associated with CFTR variants, and some forms of male infertility. Some individuals may also experience sinus disease or nasal polyps linked to CFTR dysfunction. The clinical presentation is highly variable and depends on the specific mutations and their functional impact.

Diagnosis generally combines CFTR genetic testing with clinical evaluation. Functional tests such as the sweat chloride test, nasal potential difference measurements, or intestinal current measurements may be used, but results can be normal or borderline in CFTR-RD. Management is tailored to the organs affected and may include airway clearance, enzyme replacement for pancreatic insufficiency when present, and approaches targeting specific symptoms. In some cases, CFTR modulators may be considered depending on the mutation and evidence for benefit.