妊娠与ABCB4基因突变：复发性胆石症的风险
Pregnancy and ABCB4 gene mutation: risk of recurrent cholelithiasis.
作者信息
Elderman Jan H, ter Borg Pieter C J, Dees Jan, Dees Adriaan
机构信息
Department of Medicine, Ikazia Hospital, Rotterdam, The Netherlands.
Department of Gastroenterology, Ikazia Hospital, Rotterdam, The Netherlands.
出版信息
BMJ Case Rep. 2015 Jan 22;2015:bcr2014206919. doi: 10.1136/bcr-2014-206919.
Abstract
Cholelithiasis is a common problem in the Western world. Recurrent gallstones after cholecystectomy, however, are rare. We describe a case of a young woman with recurrent gallstones after a laparoscopic cholecystectomy leading to cholangitis during pregnancy. Additional testing revealed an ATP-binding cassette B4 (ABCB4) gene mutation. ABCB4 gene mutations leading to a multidrug resistance (MDR)3-P-glycoprotein deficiency are related to, among other diseases, recurrent cholelithiasis. Medical treatment consists of administering oral ursodeoxycholic acid. If untreated, MDR3 deficiency can lead to progressive liver failure requiring liver transplantation.
摘要
胆结石在西方世界是一个常见问题。然而，胆囊切除术后复发性胆结石却很罕见。我们描述了一例年轻女性病例，她在腹腔镜胆囊切除术后出现复发性胆结石，并在孕期引发了胆管炎。进一步检测发现了ATP结合盒转运体B4（ABCB4）基因突变。导致多药耐药（MDR）3-P糖蛋白缺乏的ABCB4基因突变与复发性胆结石等多种疾病有关。药物治疗包括口服熊去氧胆酸。如果不进行治疗，MDR3缺乏可能导致进行性肝衰竭，需要进行肝移植。
相似文献
1
Pregnancy and ABCB4 gene mutation: risk of recurrent cholelithiasis.妊娠与ABCB4基因突变：复发性胆石症的风险
BMJ Case Rep. 2015 Jan 22;2015:bcr2014206919. doi: 10.1136/bcr-2014-206919.
2
Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults.成人胆汁淤积性肝病全谱中ABCB4（MDR3）基因的变异
J Hepatol. 2020 Sep;73(3):651-663. doi: 10.1016/j.jhep.2020.04.036. Epub 2020 May 4.
3
ABCB4 disease: Many faces of one gene deficiency.ABCB4 病：一个基因缺陷的多种表现。
Ann Hepatol. 2020 Mar-Apr;19(2):126-133. doi: 10.1016/j.aohep.2019.09.010. Epub 2019 Oct 31.
4
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.ABCB4 基因在人类肝脏疾病中的异常：一个不断演变的谱。
Semin Liver Dis. 2018 Nov;38(4):299-307. doi: 10.1055/s-0038-1667299. Epub 2018 Oct 24.
5
Low-Phospholipid Associated Cholelithiasis (LPAC) syndrome: A synthetic review.低磷脂相关胆石病（LPAC）综合征：综合综述。
J Visc Surg. 2019 Sep;156(4):319-328. doi: 10.1016/j.jviscsurg.2019.02.006. Epub 2019 Mar 26.
6
The wide phenotypic and genetic spectrum of ABCB4 gene deficiency: A case series.ABCB4 基因缺陷的广泛表型和遗传谱：病例系列。
Dig Liver Dis. 2022 Feb;54(2):221-227. doi: 10.1016/j.dld.2021.07.003. Epub 2021 Aug 8.
7
First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.首次描述 ABCB4 基因缺失与家族性低磷脂相关性胆石病和口服避孕药诱导性胆汁淤积症相关。
Eur J Hum Genet. 2012 Mar;20(3):277-82. doi: 10.1038/ejhg.2011.186. Epub 2011 Oct 12.
8
Expanding the mutational spectrum of the ABCB4 gene in inherited adult cholestatic liver disorders with four novel pathogenic variants.扩充 ABCB4 基因在遗传性成人胆汁淤积性肝病中的突变谱，发现四个新的致病性变异。
Rev Esp Enferm Dig. 2019 Jan;111(1):76-79. doi: 10.17235/reed.2018.5828/2018.
9
[Recurrent intrahepatic cholestasis of pregnancy and chain-like choledocholithiasis in a female patient with stop codon in the ABDC4-gene of the hepatobiliary phospholipid transporter].[一名患有肝胆磷脂转运体ABDC4基因终止密码子的女性患者出现复发性妊娠期肝内胆汁淤积症及链状胆总管结石]
Z Gastroenterol. 2008 Jan;46(1):48-53. doi: 10.1055/s-2007-963422.
10
ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.ABCB4基因突变是激素性胆汁淤积的基础，但不是儿童特发性胆结石的基础。
World J Gastroenterol. 2014 May 21;20(19):5867-74. doi: 10.3748/wjg.v20.i19.5867.
引用本文的文献
1
Case series of progressive familial intrahepatic cholestasis type 3: Characterization of variants in in China.3型进行性家族性肝内胆汁淤积症的病例系列：中国患者的变异特征分析
Front Med (Lausanne). 2022 Dec 8;9:962408. doi: 10.3389/fmed.2022.962408. eCollection 2022.
2
The Mitochondrial tRNA 625G>A Mutation in Three Han Chinese Families With Cholecystolithiasis.三个患胆囊结石的汉族家庭中的线粒体tRNA 625G>A突变
Front Genet. 2022 May 27;13:814729. doi: 10.3389/fgene.2022.814729. eCollection 2022.
3
Reproductive factors and gall-bladder cancer, and the effect of common genetic variants on these associations: a case-control study in India.生殖因素与胆囊癌，以及常见遗传变异对这些关联的影响：印度的一项病例对照研究。
Int J Epidemiol. 2022 Jun 13;51(3):789-798. doi: 10.1093/ije/dyab197.
本文引用的文献
1
Bile formation and secretion.胆汁的形成和分泌。
Compr Physiol. 2013 Jul;3(3):1035-78. doi: 10.1002/cphy.c120027.
2
Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.低磷脂相关胆石病综合征的基因型-表型关系：156 例连续患者的研究。
Hepatology. 2013 Sep;58(3):1105-10. doi: 10.1002/hep.26424. Epub 2013 Jul 29.
3
Ursodeoxycholic acid and bile-acid mimetics as therapeutic agents for cholestatic liver diseases: an overview of their mechanisms of action.熊去氧胆酸和胆汁酸类似物作为胆汁淤积性肝病的治疗药物：作用机制概述。
Clin Res Hepatol Gastroenterol. 2012 Sep;36 Suppl 1:S3-12. doi: 10.1016/S2210-7401(12)70015-3.
4
Recurrence of gallstones after cholecystectomy is associated with ABCG5/8 genotype.胆囊切除术后胆结石复发与 ABCG5/8 基因型有关。
J Gastroenterol. 2013 Mar;48(3):391-6. doi: 10.1007/s00535-012-0639-3. Epub 2012 Aug 7.
5
Ursodeoxycholic acid in cholestasis: linking action mechanisms to therapeutic applications.熊去氧胆酸在胆汁淤积症中的作用：作用机制与治疗应用的关联。
Clin Sci (Lond). 2011 Dec;121(12):523-44. doi: 10.1042/CS20110184.
6
Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.家族性胆汁淤积症：进行性家族性肝内胆汁淤积症、良性复发性肝内胆汁淤积症和妊娠肝内胆汁淤积症。
Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):541-53. doi: 10.1016/j.bpg.2010.07.010.
7
The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.与 ABCB4 基因突变相关的肝脏疾病谱：病理生理学和临床方面。
Semin Liver Dis. 2010 May;30(2):134-46. doi: 10.1055/s-0030-1253223. Epub 2010 Apr 26.
8
EASL Clinical Practice Guidelines: management of cholestatic liver diseases.欧洲肝脏研究学会临床实践指南：胆汁淤积性肝病的管理
J Hepatol. 2009 Aug;51(2):237-67. doi: 10.1016/j.jhep.2009.04.009. Epub 2009 Jun 6.
9
A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.胆小管磷脂转运蛋白基因ABCB4的突变与成人胆汁淤积、小胆管减少和肝硬化有关。
Hepatology. 2008 Oct;48(4):1157-66. doi: 10.1002/hep.22485.
10
The Multiple Facets of ABCB4 (MDR3) Deficiency.ABCB4（多药耐药蛋白3，MDR3）缺乏症的多方面表现
Curr Treat Options Gastroenterol. 2007 Dec;10(6):495-503. doi: 10.1007/s11938-007-0049-4.
Zotero 插件