检索结果-南通市图书馆

Partial external biliary diversion in bile salt export pump deficiency: Association between outcome and mutation

World Journal of Gastroenterology 2017年第29期23卷 5295-5303页

作者： Philipp Ellinger Jan Stindt Carola Droge Katharina Sattler Claudia Stross Stefanie Kluge Diran Herebian Sander HJ Smits Martin Burdelski Sebastian Schulz-Jürgensen antje ballauff Jan Schulte am Esch Ertan Mayatepek Dieter Haussinger Ralf Kubitz Lutz Schmitt In-stitute of Biochemistry Hein-rich-Hein-e-Un-iversity Düsseldorf Medical Faculty Departmen-t of Gastroen-terology Hepatology an-d In-fectious Diseases Hein-rich-Hein-e-Un-iversity Düsseldorf Departmen-t of Gen-eral Pediatrics Neon-atology an-d Pediatric Cardiology Medical Faculty Hein-rich-Hein-e-Un-iversity Düsseldorf Departmen-t of Paediatrics Un-iversity Hospital Schleswig Holstein- Departmen-t of Paediatrics Helios Clin-ic Departmen-t of Gen-eral Surgery Hein-rich-Hein-e-Un-iversity

To investigate the relation of two different mutations to the outcome of partial external biliary diversion (PEBD) in severe bile salt export pump (BSEP) deficiency. METHODSMutations in the gene encoding BSEP leading to severe BSEP deficiency in two unrelated patients were identified by genomic sequencing. Native liver biopsies and transiently transfected human embryonic kidney (HEK) 293 cells expressing either wild-type or mutated BSEP were subjected to immunofluorescence analysis to assess BSEP transporter localization. Bile acid profiles of patient and control bile samples were generated by ultra-performance liquid chromatography-tandem mass spectrometry. Wild-type and mutant BSEP transport of [3H]-labeled taurocholate (TC) and taurochenodeoxycholate (TCDC) was assessed by vesicular transport assays. RESULTSA girl (at 2 mo) presented with pruritus, jaundice and elevated serum bile salts (BS). PEBD stabilized liver function and prevented liver transplantation. She was heterozygous for the BSEP deletion p.T919del and the nonsense mutation p.R1235X. At the age of 17 years relative amounts of conjugated BS in her bile were normal, while total BS were less than 3% as compared to controls. An unrelated boy (age 1.5 years) presenting with severe pruritus and elevated serum BS was heterozygous for the same nonsense and another missense mutation, p.G1032R. PEBD failed to alleviate pruritus, eventually necessitating liver transplantation. BS concentration in bile was about 5% of controls. BS were mainly unconjugated with an unusual low amount of chenodeoxycholate derivatives (< 5%). The patients’ native liver biopsies showed canalicular BSEP expression. Both BSEP p.T919del and p.G1032R were localized in the plasma membrane in HEK293 cells. In vitro transport assays showed drastic reduction of transport by both mutations. Using purified recombinant BSEP as quantifiable reference, per-molecule transport rates for TC and TCDC were determined to be 3 and 2 BS molecu

关键词： Familial intrahepatic cholestasis type 2 Partial external biliary diversion Bile salt export pump ATP binding cassette transporter Intrahepatic cholestasis

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Vitamin E treatment for children with chronic hepatitis B:A randomized placebo controlled trial

引用

World Journal of Gastroenterology 2008年第47期14卷 7208-7213页

作者： Patrick Gerner Hans-Georg Posselt Andreas Krahl antje ballauff Albina Innerhofer Christa Binder Tobias G Wenzl Matthias Zense Ariadne Hector Gerhard Dockter Rüdiger Adam Jenny Neubert Martin Claβen Robert van Gemmern Stefan Wirth Children's Hospital Duisburg-Essen University Klinik 2Essen 45122Germany Witten/Herdecke University HELIOS KlinikumWuppertalGermany Children's Hospital Frankfurt University Frankfurt am Main 60590Germany Children's Hospital Darmstadt 64287Germany Children's Hospital Essen University Klinik 2Essen 45122Germany Children's Hospital St.Anna Wien Austria 1090Germany Children's Hospital Aachen University Aachen 52074Germany Children's Hospital St.Clemens Münster 48153Germany Children's Hospital Homburg University Homburg/Saar 66421Germany Children's Hospital Mannheim University Mannheim 68167Germany Children's Hospital Düsseldorf University Düsseldorf 40225Germany Children's Hospital Bremen University Bremen 28195Germany Pharmacy of HELIOS Klinikum Wuppertal 42883Germany Children's Hospital HELIOS Klinikum Wuppertal42283Germany Witten/Herdecke University Witten/HerdeckeGermany

AIM:To evaluate the safety and efficacy of vitamin E in children with chronic hepatitis ***:We randomly assigned patients with chronic hepatitis B,positive for hepatitis B e antigen(HBeAg),to receive either vitamin E or placebo once daily for 6 mo in a 3:1 ratio and double-blind *** primary end point was HBeAg seroconversion,defined as the loss of HBeAg,undetectable levels of serum hepatitis B virus DNA,and the appearance of antibodies against HBeAg 12 mo after ***:At baseline visit,49 patients had normal and 43 had increased serum aminotransferase ***-nine patients did not respond to previous treatment with interferon-α or ***-six children completed the study;16 were non-compliant(n = 7),lost to follow-up(n = 7),or started another antiviral treatment(n = 3).Intention-to-treat analysis showed HBeAg seroconversion in 16 children(23.2%) treated with vitamin E and two(8.7%) in the placebo group(P = 0.13).Vitamin E was well ***:There is only a tendency that vitamin E may promote HBeAg *** larger studies are needed to clarify the role of antioxidants in the therapy of chronic hepatitis B.

关键词： Vertical transmission Immune tolerance Re-treatment Infant

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：