CFTRrelated

CFTRrelated refers to conditions linked to mutations in the CFTR gene that do not meet the diagnostic criteria for classic cystic fibrosis (CF). In clinical practice, these conditions are often described as CFTR-related disorders (CFTR-RDs). They arise from dysfunction of the CFTR chloride channel, which affects epithelial ion and water transport in multiple organs.

The CFTR gene encodes the CFTR protein, a regulated chloride channel expressed in respiratory, gastrointestinal, reproductive, and other epithelia. More than 2,000 CFTR variants have been described, with different impacts on channel function. Classic CF typically involves prominent lung disease, pancreatic insufficiency, and characteristic sweat chloride elevations. By contrast, CFTR-RDs include a broader and milder set of manifestations that can be variably expressed.

Common examples of CFTR-related disorders include congenital bilateral absence of the vas deferens (CBAVD), which can cause male infertility, and various forms of bronchiectasis or pancreatitis associated with CFTR mutations without full CF criteria. Patients may present with recurrent bronchitis, sinus disease, or pancreatic symptoms, but without the consolidated CF phenotype. Some individuals with CFTR-RD have normal or borderline sweat chloride tests, making genetic testing and clinical judgment essential for diagnosis.

Diagnosis relies on a combination of clinical features, CFTR genetic testing, and sometimes functional tests such as sweat chloride measurement or nasal potential difference testing. Management is individualized and focuses on treating specific symptoms (e.g., airway clearance for bronchiectasis, pancreatitis management, or fertility counseling). In some cases, disease-modifying therapies targeting CFTR function may be considered if a relevant mutation is present, though approvals vary by mutation and region.