Bile And Pancreatic Ducts, Complete Absence Of

Nakamura et al. (2003) examined a newborn who had no bile and pancreatic ducts. Hydrops was evident after 29 weeks of gestation, and she died shortly after birth. One of her sibs, a male, had died of hydrops at about 6 months of gestation, and there were 2 more miscarriages of unknown causes. The newborn had 2 healthy but small sisters, who were 4 years and 1 year of age, respectively. The parents were not consanguineous. The presumed occurrence in at least 2 sibs, a brother and sister, suggested a genetic basis. At autopsy on the newborn, the liver had an abnormally round shape and the pancreas was not in the normal position. There was an ectopic small pancreas with normally developed islets. Histologic analysis showed complete absence of extra- and intrahepatic bile and pancreatic ducts. Immunostaining of these tissues showed no positive bile duct marker staining using epithelial membrane antigen (158340) and cytokeratin-19 (148020) in the liver. Albumin (103600) and alpha-fetoprotein (104150) staining was positive in the liver, and insulin (176730) and glucagon (138030) staining was positive in the remaining islets of the pancreas.

Nakamura et al. (2003) noted that, in animal studies, Pdx1 (600733) deficiency and Hlxb9 (142994) deficiency lead to agenesis of the pancreas and/or ectopic pancreas, and, in humans, PDX1 deficiency has manifestations ranging from agenesis of the pancreas to maturity-onset diabetes of the young-4 (MODY4; 606392). However, pancreatic ducts are not affected in either PDX1 deficiency or HLXB9 deficiency. Patients with Alagille syndrome (see 118450) have paucity or absence of intrahepatic bile ducts, but congenital absence of the interlobular bile ducts has not been noted, and pancreatic ducts are normal. One feature of Meckel syndrome (249000) is hepatic ductal dysplasia, but complete defects of both bile and pancreatic ducts has not been described. Nakamura et al. (2003) concluded that the complete absence of bile and pancreatic ducts represents a novel entity related to a gene involved in bile and pancreatic duct development.