Inherited and congenital disorders of the exocrine pancreas

The spectrum of inherited and congenital disorders of the exocrine pancreas is described. Although functional disturbances of the exocrine pancreas are less frequent in childhood than in adult life, there is a wide spectrum of causes, many of which are genetic or congenital in origin. Rarely, a disturbance of pancreatic function may arise as a result of disordered embryogenesis. More frequently, however, inherited disorders affecting multiple organs give rise to pancreatic dysfunction. Among Caucasian children, cystic fibrosis (CF) is, by far, the most common inherited disorder of disturbed pancreatic function. Examples of rarer, inherited causes of pancreatic dysfunction include Shwachman-Diamond syndrome, Johanson-Blizzard syndrome, Pearson's syndrome, pancreatic agenesis, and isolated enzyme deficiencies. Hereditary pancreatitis and several recently recognized metabolic causes of chronic pancreatitis can also produce severe pancreatic exocrine dysfunction.