先天性胆道拡張症の家族内発生

抄録

A daughter and her mother with congenital biliary ductal dilatation (CBD) were presented. The daughter underwent resection of large choledochal cyst and hepatic portojejunostomy when she was 11 year old. Her mother, 48 year old, had biliary ductal dilatation with cancer. She had pancreato-duodenectomy with resection of the choledochal cyst. She had anomalous arrangement of pancreatico-biliary ductal system. Three familial occurrence of CBD has been reported in Japanese literature including our case. The combinations were father-daughter, two sisters, and mother-daughter. All except one that was not examined had anomalous arrangement of pancreatico-biliary ductal system. We discussed the possibility of heredity in CBD as follows. 1) x-linked dominant inheritance, 2) autosomal dominant inheritance with low penetrance in male.