Cystic fibrosis--a genetic dilemma

Cystic fibrosis is a common genetic disease that usually presents in early childhood as a devastating disease affecting pulmonary function and at times gastrointestinal functioning and nutritional status. Variant forms of this disease have been described, which may have a delayed age of onset or a milder clinical course. Numerous genetic mutations have been described in cystic fibrosis. There are several mutations that are known to be associated with late onset disease or mild clinical disease. Research continues into these genetic mutations and various modifiers that may help to more accurately predict the final phenotypic presentation.