Congenital bile duct dilation —Possibly an hereditary condition—
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A female patient underwent resection of a large choledochal cyst and hepaticojejunostomy when she was 11 years old at Tokyo Medical and Dental University Hospital. Her mother, 48 years old, also had congenital bile duct dilatation (CBD) with cancer. The mother had an anomalous pancreatico-biliary ductal junction. To investigate the possibility of a genetic link, family members of another three consecutive CBD cases were examined for bile duct dilatation and anomalous pancreatico-biliary junction. Endoscopic retrograde choledocho-pancreatography (ERCP) revealed an anomalous pancreatico-biliary ductal junction, without bile duct dilatation in the mother of a 17-year-old CBD patient. Two familial occurrences of CBD had been reported in the Japanese literature. Their combinations were; a father—a daughter and two sisters, respectively. Considering that the sex ratio of CBD is one male to 2.6 females, our results suggest that CBD or anomalous pancreatico-biliary ductal junction may be 1) an X-linked dominant trait or 2) autosomal dominant trait with relatively low penetrance in males. Since anomalous pancreatico-biliary ductal junction does not necessarily develop into bile duct dilatation, more familial investigations on pancreatico-biliary ductal junction and bile duct dilatation are essential to clarify the genetic contribution to CBD.
- Chiba T, Ohashi E, Uchida T, Ohi R, Kasai M. Congenital bile duct dilatation in siblings. Z Kinderchir 1981; 32: 188–190.
- Hiraki M, Yano H, Tomita T, Komura J, Noguchi T. Congenital biliary ductal dilatation which occurred in a father and his daughter. Nihon Shonigeka Gakkai Zasshi (J Jpn Soc Ped Surg). 1982; 18: 413. (in Japanese)
- Juda Z, Babbitt DP, Starshak RJ, LaPorta AJ, Glicklich M, Cohen RD. Anatomic observations and etiologic and surgical consideration in choledochal cyst. J Pediatr Surg 1979; 14: 315–320.
- Ito T, Ando H, Nagaya M, Sugito T. Congenital dilatation of the common bile duct in children—The etiologic significance of the narrow segment distal to the dilatated bile duct. Z Kinderchir 1984; 39: 40–45.
- Arima E, Akita H. Congenital biliary tract dilatation and anomalous junction of the pancreatico-biliary ductal system. J Pediatr Surg 1979; 14: 9–15.
- Komi N, Kuramoto M, Udaka H, Ikeda N, Kuwashima T. Congenital biliary dilatation in Japan. Tokushima J Exp Med 1981; 28: 91–95.
- Tompson JS, Tompson MW. Genetics in Medicine 3rd ed. Philadelphia: Saunders, 1980; 74, 252.
- Nakamura T, Takamoto S, Hattori M, Doue T, Tagashira Y, Nishimura K. Three children with choledochal ductal dilatation. Nihon Shokaki-geka Gakkai Zassi (Jpn J Gastroent Surg) 1982; 15: 1454. (in Japanese)
- Congenital bile duct dilation —Possibly an hereditary condition—
The Japanese journal of surgery
Volume 15, Issue 6 , pp 501-505
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- congenital bile duct dilatation
- familial case
- anomalous pancreatico-biliary ductal junction
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