先天性肝纤维化的发病机制及诊治现状

冯茂森; 马文斌; 汤善宏; 吴晓玲; 秦建平; 曾维政

doi:10.3969/j.issn.1001-5256.2017.03.035

先天性肝纤维化的发病机制及诊治现状

DOI: 10.3969/j.issn.1001-5256.2017.03.035

1. 西南医科大学
2. 陆军第十三集团军77110部队卫生队
3. 成都军区总医院消化内科

详细信息

中图分类号: R725.7
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出版历程
- 收稿日期: 2016-09-29
- 出版日期: 2017-03-20

Pathogenesis of congenital hepatic fibrosis and current status of its diagnosis and treatment

Southwest Medical University

摘要

摘要: 先天性肝纤维化(CHF)为一种多发生于儿童的罕见疾病,可能因先天性基因缺陷相关的胆管板发育异常引起,其发病机制迄今尚不十分清楚,目前研究报道显示多囊肾/多囊肝病变1基因(PKHD1)突变为其重要原因之一。主要临床表现为门静脉高压和复发性胆管炎,常合并肾脏疾病,治疗原则主要是控制门静脉高压及相关并发症,延缓疾病进展,及时治疗预后相对较好,而针对胆管板发育异常尚无特效治疗方法。综述了近年来国内外报道的CHF发病机制和治疗现状,为CHF诊治提供参考。
- 肝硬化 /
- 诊断 /
- 治疗 /
- 综述
Abstract: Congenital hepatic fibrosis (CHF) is a rare disease commonly seen in children and might be caused by ductal plate malformation associated with congenital gene defect.So far, the pathogenesis of this disease remains unclear, and present studies have reported that polycystic kidney and hepatic disease 1 gene mutation may be one of the most important reasons for the development of CHF.Patients are mainly manifested as portal hypertension and recurrent cholangitis, often complicated by renal diseases.The therapeutic principle mainly focuses on controlling portal hypertension and related complications and slowing down the progression of CHF.Timely treatment helps patients to achieve a relatively good prognosis.However, there are still no effective therapies for ductal plate malformation.This article reviews the pathogenesis and current status of treatment of CHF in China and foreign countries to provide a reference for the diagnosis and treatment of CHF.
- liver cirrhosis /
- diagnosis /
- therapy /
- review

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参考文献(36)

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