'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations

Cystic fibrosis is a genetic disease that is associated with abnormal sweat electrolytes, sino-pulmonary disease, exocrine pancreatic insufficiency, a nd male infertility. Insights into genotype/phenotype relations have recent ly been gained in this disorder. The strongest relationship exists between 'severe' mutations in the gene that encodes the cystic fibrosis transmembra ne regulator (CFTR) and pancreatic insufficiency. The relationship between 'mild' mutations, associated with residual CFTR function, and expression of disease is less precise. Atypical 'mild' mutations in the CFTR gene have b een linked to late-onset pulmonary disease, congenital bilateral absence of the vas deferens, and idiopathic pancreatitis. Less commonly, sinusitis, a llergic bronchopulmonary aspergillosis, and possibly even asthma may also b e associated with mutations in the CFTR gene, but those syndromes predomina ntly reflect non-CFTR gene modifiers and environmental influences.