EDITORAlthough cystic fibrosis (CF) is a monogenic disorder of autosomal recessive inheritance, it displays a diverse clinical phenotype. Over 1000 molecular lesions in the cystic fibrosis transmembrane conductance regulator (CFTR) gene together with the action of modifying genes can result in the variable expression of CF.^1 2

Classical CF causes dysfunction of the lung, sweat glands, testis, ovary, intestine, and pancreas.³ However, there is considerable variation in measurements of the onset age, presence of pancreatic insufficiency, sweat electrolyte levels, and progression of lung disease. Particularly mild manifestations of cystic fibrosis are conveniently grouped as "atypical CF" and result from a different CFTR mutation spectrum from classical CF patients.^4-8 Recognition of the wide range of disease presentation in CF is important for appropriate treatment and effective counselling of those at risk. The repertoire of other disorders associated with CFTR variants include various respiratory afflictions such as asthma,⁹ chronic bronchitis, . . . [Full text of this article]