There has been tremendous growth in the population of adults with cystic fibrosis (CF). This demographic change has created the need for special clinics to care for adults with CF and has resulted in an awakening of interest in CF among physicians caring for adults. In fact, the protean and varied manifestations of CF disease in multiple organs calls for expanded knowledge of the condition among physicians in a wide variety of sub-specialties, including, but not limited to pulmonary medicine, gastroenterology, hepatology, clinical nutrition, endocrinology, infectious diseases rheumatology and andrology. This review will focus on disease pathobiology of the gastrointestinal and hepatic manifestations of CF disease which the internist is likely to encounter. We will first address clinical manifestations of CF disease that are directly associated with loss of function of the cystic fibrosis transmembrane regulator protein (CFTR) and then summarize those which are secondary. We will elaborate on the challenges of establishing or excluding a CF diagnosis in patients who present de novo in adulthood with particular attention to conditions with CF-like phenotypes that are associated with an increased frequency of mutations in the CFTR gene. Finally, we will briefly discuss emerging knowledge of the potential contribution of mutations in the CFTR gene to other complex genetic conditions.
- cystic fibrosis
- cystic fibrosis transmembrane conductance regulator gene
- hepatobiliary disease
- meconium ileus
- pancreatic disease