两例与1型进行性家族性肝内胆汁淤积症相关的新型ATP8B1突变，利福平可改善病情：病例报告。 - Suppr

Suppr

超能文献

Two novel ATP8B1 mutations involved in progressive familial intrahepatic cholestasis type 1 that is ameliorated by rifampicin: A case report.

作者信息

Huang Yan, Luo Er Ping, Li Min, Yang Jing, Gan Jian He, Zhao Wei Feng

机构信息

Department of Infectious Diseases, First Affiliated Hospital of Soochow University, Suzhou, Jiangsu Province, China.

Department of Dermatology, First Affiliated Hospital of Soochow University, Suzhou, Jiangsu Province, China.

出版信息

J Dig Dis. 2022 Feb;23(2):124-129. doi: 10.1111/1751-2980.13078. Epub 2022 Feb 22.

DOI:10.1111/1751-2980.13078

PMID:34985190

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9304250/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d4f/9304250/5cbfb7176768/CDD-23-124-g004.jpg

相似文献

Two novel ATP8B1 mutations involved in progressive familial intrahepatic cholestasis type 1 that is ameliorated by rifampicin: A case report.两例与1型进行性家族性肝内胆汁淤积症相关的新型ATP8B1突变，利福平可改善病情：病例报告。

J Dig Dis. 2022 Feb;23(2):124-129. doi: 10.1111/1751-2980.13078. Epub 2022 Feb 22.

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.

NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1, ABCB11 and ABCB4 mutations.分析进行性家族性肝内胆汁淤积症、药物性胆汁淤积或与 ATP8B1、ABCB11 和 ABCB4 突变无关的妊娠肝内胆汁淤积症患者的 NR1H4。

Clin Res Hepatol Gastroenterol. 2012 Dec;36(6):569-73. doi: 10.1016/j.clinre.2012.08.008. Epub 2012 Nov 9.

Update on progressive familial intrahepatic cholestasis.进行性家族性肝内胆汁淤积症的最新进展

J Pediatr Gastroenterol Nutr. 2008 Mar;46(3):241-52. doi: 10.1097/MPG.0b013e3181596060.

Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.成年男性进行性家族性肝内胆汁淤积症中新型 ATP8B1 突变。

World J Gastroenterol. 2012 Nov 28;18(44):6504-9. doi: 10.3748/wjg.v18.i44.6504.

Biochemical characterization of P4-ATPase mutations identified in patients with progressive familial intrahepatic cholestasis.对进行性家族性肝内胆汁淤积症患者中发现的 P4-ATPase 突变的生化特征分析。

J Biol Chem. 2012 Nov 30;287(49):41139-51. doi: 10.1074/jbc.M112.413039. Epub 2012 Oct 11.

Characterization of urinary bile acids in a pediatric BRIC-1 patient: effect of rifampicin treatment.对 BRIC-1 患儿尿液胆汁酸的特征分析：利福平治疗的效果。

Clin Chim Acta. 2012 Aug 16;413(15-16):1301-4. doi: 10.1016/j.cca.2012.04.011. Epub 2012 Apr 14.

The molecular genetics of familial intrahepatic cholestasis.家族性肝内胆汁淤积症的分子遗传学

Gut. 2000 Jul;47(1):1-5. doi: 10.1136/gut.47.1.1.

Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.意大利单一中心家族性肝内胆汁淤积新突变的遗传学与分子建模

PLoS One. 2015 Dec 17;10(12):e0145021. doi: 10.1371/journal.pone.0145021. eCollection 2015.

Progressive familial intrahepatic cholestasis: genetic disorders of biliary transporters.进行性家族性肝内胆汁淤积症：胆汁转运体的遗传性疾病。

J Gastroenterol Hepatol. 2005 Jun;20(6):807-17. doi: 10.1111/j.1440-1746.2005.03743.x.

引用本文的文献

Opinion paper on the diagnosis and treatment of progressive familial intrahepatic cholestasis.关于进行性家族性肝内胆汁淤积症诊断与治疗的意见书

JHEP Rep. 2023 Oct 27;6(1):100949. doi: 10.1016/j.jhepr.2023.100949. eCollection 2024 Jan.

本文引用的文献

UPF1: From mRNA Surveillance to Protein Quality Control.UPF1：从mRNA监测到蛋白质质量控制

Biomedicines. 2021 Aug 11;9(8):995. doi: 10.3390/biomedicines9080995.

Progressive Familial Intrahepatic Cholestasis.进行性家族性肝内胆汁淤积症。

Clin Liver Dis. 2018 Nov;22(4):657-669. doi: 10.1016/j.cld.2018.06.003. Epub 2018 Aug 3.

Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies.家族性肝内胆汁淤积症1型和胆盐输出蛋白缺乏症的外科治疗结果。

Hepatol Commun. 2018 Mar 30;2(5):515-528. doi: 10.1002/hep4.1168. eCollection 2018 May.

An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.ABCB4、ABCB11、ATP8B1、ABCC2 和 TJP2 的杂合突变在妊娠肝内胆汁淤积症中的作用扩大。

Sci Rep. 2017 Sep 18;7(1):11823. doi: 10.1038/s41598-017-11626-x.

Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.对一大群胆汁淤积症患者的 FIC1、BSEP 和 MDR3 进行测序，揭示了大量不同的遗传变异。

J Hepatol. 2017 Dec;67(6):1253-1264. doi: 10.1016/j.jhep.2017.07.004. Epub 2017 Jul 19.

P4-ATPases as Phospholipid Flippases-Structure, Function, and Enigmas.作为磷脂翻转酶的P4-ATP酶——结构、功能及谜团

Front Physiol. 2016 Jul 8;7:275. doi: 10.3389/fphys.2016.00275. eCollection 2016.

Rifampicin in the treatment of severe intrahepatic cholestasis of pregnancy.利福平治疗妊娠重度肝内胆汁淤积症

Eur J Obstet Gynecol Reprod Biol. 2015 Jun;189:59-63. doi: 10.1016/j.ejogrb.2015.03.020. Epub 2015 Mar 28.

Phospholipase D2 mediates signaling by ATPase class I type 8B membrane 1.磷酸酶 D2 介导 ATP 酶 I 类 8B 膜 1 的信号转导。

J Lipid Res. 2013 Feb;54(2):379-85. doi: 10.1194/jlr.M030304. Epub 2012 Dec 4.

Novel splice-site mutation in ATP8B1 results in atypical progressive familial intrahepatic cholestasis type 1.ATP8B1 中的新型剪接位点突变导致非典型进行性家族性肝内胆汁淤积症 1 型。

J Gastroenterol Hepatol. 2013 Mar;28(3):560-4. doi: 10.1111/j.1440-1746.2012.07290.x.

Activity of the bile salt export pump (ABCB11) is critically dependent on canalicular membrane cholesterol content.胆盐输出泵（ABCB11）的活性严重依赖于胆小管膜胆固醇含量。

J Biol Chem. 2009 Apr 10;284(15):9947-54. doi: 10.1074/jbc.M808667200. Epub 2009 Feb 19.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验