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Familial occurrence of congenital bile duct dilatation
M Iwafuchi1, Y Ohsawa, S Naito
1Department of Pediatric Surgery, Niigata University Hospital, Japan.
Insights
Congenital bile duct dilatation (CBD) occurred in a mother and daughter, both diagnosed with anomalous pancreaticobiliary ductal junction (AP-BDJ). Surgical treatment was successful for both patients.
Area of Science:
- Gastroenterology and Hepatology
- Medical Genetics
- Surgical Oncology
Background:
- Congenital bile duct dilatation (CBD) is a rare condition.
- Anomalous pancreaticobiliary ductal junction (AP-BDJ) is a known risk factor for biliary tract cancer.
- Familial occurrence of CBD suggests a potential genetic predisposition.
Observation:
- A mother and daughter presented with congenital bile duct dilatation (CBD).
- Both patients were diagnosed with anomalous pancreaticobiliary ductal junction (AP-BDJ).
- The mother also exhibited intrahepatic bile duct dilatation.
Findings:
- Surgical intervention, including bile duct removal, cholecystectomy, and hepaticojejunostomy, was performed on both mother and daughter.
- The literature review identified fourteen additional cases of CBD across seven families.
- This familial clustering highlights a potential hereditary component in CBD and AP-BDJ.
Implications:
- Early diagnosis and surgical management of CBD and AP-BDJ are crucial, especially in familial cases.
- Understanding the genetic basis of CBD may lead to improved screening and prevention strategies.
- Further research into familial CBD is warranted to elucidate underlying genetic factors and long-term outcomes.
Abstract:
The occurrence of congenital bile duct dilatation (CBD) in both a mother and her daughter was recently experienced at Niigata University Hospital and Niigata Shimin Hospital. Bile duct dilatation with anomalous pancreaticobiliary ductal junction (AP-BDJ) was disclosed in both. Intrahepatic bile duct dilatation was only in the mother. Removal of dilated bile duct, cholecystectomy, and hepaticojejunostomy were performed in both. Fourteen cases of CBD from seven families were collected from literature and discussed.