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先天性胆管扩张症的家族性发病情况。

Familial occurrence of congenital bile duct dilatation.

作者信息

Iwasaki Junji, Ogura Yoshifumi, Nakagawa Shunichi, Kato Kenji, Kondo Akinobu, Shiraki Katsuya

机构信息

Department of Surgery, Matsusaka City Hospital, 1550 Tono-machi, Matsusaka, Mie 515-8566, Japan.

出版信息

World J Gastroenterol. 2008 Feb 14;14(6):941-3. doi: 10.3748/wjg.14.941.

DOI:10.3748/wjg.14.941
PMID:18240355
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2687065/
Abstract

Congenital bile duct dilatation (CBD) that developed in a parent and son is presented. Familial occurrence of CBD is rare, with only a few male cases having been reported. Since the initial report of CBD occurring in siblings in 1981, a total of 20 cases (10 pairs) have been published as of 2007. Clinical and genetic features of CBD are discussed.

摘要

本文报告了一对父子均患先天性胆管扩张症（CBD）的病例。CBD的家族性发病较为罕见，仅有少数男性病例的报道。自1981年首次报道CBD在同胞中发病以来，截至2007年共发表了20例（10对）病例。本文还讨论了CBD的临床和遗传特征。

相似文献

1
Familial occurrence of congenital bile duct dilatation.先天性胆管扩张症的家族性发病情况。
World J Gastroenterol. 2008 Feb 14;14(6):941-3. doi: 10.3748/wjg.14.941.
2
Congenital bile duct dilatation--possibly an hereditary condition.先天性胆管扩张症——可能是一种遗传性疾病。
Jpn J Surg. 1985 Nov;15(6):501-5. doi: 10.1007/BF02470098.
3
Familial occurrence of congenital bile duct dilatation.先天性胆管扩张症的家族性发病情况。
J Pediatr Surg. 1990 Mar;25(3):353-5. doi: 10.1016/0022-3468(90)90087-p.
4
Congenital biliary dilatation in dizygotic twins.
Pediatr Surg Int. 2005 Jan;21(1):17-9. doi: 10.1007/s00383-004-1255-y.
5
[A choledochal diverticulum. A case report].[胆总管憩室。病例报告]
Minerva Chir. 1991 Nov;46(21-22):1217-22.
6
[Mechanism of the bile duct dilatation in congenital dilatation of the common bile duct].
Nihon Geka Gakkai Zasshi. 1983 Nov;84(11):1174-85.
7
Changes of intrahepatic bile duct dilatation after surgery for congenital dilatation of the bile duct.
J Pediatr Surg. 1985 Apr;20(2):138-42. doi: 10.1016/s0022-3468(85)80286-4.
8
Cylindrical dilatation of the choledochus: a special type of congenital bile duct dilatation.胆总管圆柱状扩张：一种特殊类型的先天性胆管扩张。
Surgery. 1985 Nov;98(5):964-9.
9
The incidence and significance of common bile duct dilatation in biliary calculous diseases.
World J Surg. 1984 Jun;8(3):327-34. doi: 10.1007/BF01655066.
10
Clinical features and risk factors of bile duct perforation associated with pediatric congenital biliary dilatation.小儿先天性胆管扩张症合并胆管穿孔的临床特征及危险因素
Pediatr Surg Int. 2018 Oct;34(10):1079-1086. doi: 10.1007/s00383-018-4321-6. Epub 2018 Aug 3.

引用本文的文献

1
Large choledochal cyst of the common bile duct in a 2-month-old girl: a case report.一名2个月大女童的胆总管巨大胆总管囊肿：病例报告
Int J Surg Case Rep. 2025 Jun 19;133:111534. doi: 10.1016/j.ijscr.2025.111534.
2
Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes.先天性胆管扩张症的遗传学研究确定了功能相关基因中的新生变异和遗传变异。
BMC Med Genomics. 2016 Dec 12;9(1):75. doi: 10.1186/s12920-016-0236-z.
3
Common bile duct dilatations in asymptomatic neonates: incidence and prognosis.无症状新生儿胆总管扩张：发病率和预后。
Gastroenterol Res Pract. 2014;2014:392562. doi: 10.1155/2014/392562. Epub 2014 Mar 19.

本文引用的文献

1
Congenital biliary dilatation in dizygotic twins.
Pediatr Surg Int. 2005 Jan;21(1):17-9. doi: 10.1007/s00383-004-1255-y.
2
Different types of congenital biliary dilatation in dizygotic twins.双卵双胎中不同类型的先天性胆管扩张症。
Pediatr Surg Int. 1999 Jul;15(5-6):403-4. doi: 10.1007/s003830050612.
3
Familial occurrence of congenital bile duct cysts.
J Gastroenterol Hepatol. 1998 Mar;13(3):316-9. doi: 10.1111/j.1440-1746.1998.01562.x.
4
Surgical management and long-term follow-up of patients with choledochal cysts.
Am J Surg. 1993 Feb;165(2):238-42. doi: 10.1016/s0002-9610(05)80518-5.
5
Choledochal cyst disease. A changing pattern of presentation.胆总管囊肿疾病。临床表现的变化模式。
Ann Surg. 1994 Nov;220(5):644-52. doi: 10.1097/00000658-199411000-00007.
6
Congenital bile duct dilatation in siblings.兄弟姐妹中的先天性胆管扩张症。
Z Kinderchir. 1981 Feb;32(2):188-90. doi: 10.1055/s-2008-1063259.
7
Congenital choledochal cyst. Analysis of 1,433 patients in the Japanese literature.先天性胆管囊肿。日本文献中1433例患者的分析。
Am J Surg. 1980 Nov;140(5):653-7. doi: 10.1016/0002-9610(80)90051-3.
8
Congenital bile duct dilatation--possibly an hereditary condition.先天性胆管扩张症——可能是一种遗传性疾病。
Jpn J Surg. 1985 Nov;15(6):501-5. doi: 10.1007/BF02470098.
9
Familial occurrence of congenital bile duct dilatation.先天性胆管扩张症的家族性发病情况。
J Pediatr Surg. 1990 Mar;25(3):353-5. doi: 10.1016/0022-3468(90)90087-p.
10
Discordance for anomalous pancreaticobiliary ductal junction and congenital biliary dilatation in a set of monozygotic twins.一组单卵双胞胎中胰胆管异常连接与先天性胆管扩张的不一致性。
J Pediatr Surg. 1992 Dec;27(12):1563-4. doi: 10.1016/0022-3468(92)90508-5.