3β-羟基-Δ5-C27-类固醇脱氢酶缺陷一家系报告并文献复习  

3β-hydroxy-Δ5-C27 steroid dehydrogenase deficiency in one family： two cases report

作　　者：吴怡[1,2] 李雪松[1] 刘艳[1] 黄志华[1] 

机构地区：[1]华中科技大学同济医学院附属同济医院儿科,湖北武汉430030 [2]广西壮族自治区妇幼保健院儿科,广西南宁530000

出　　处：《临床儿科杂志》2016年第4期253-257,共5页Journal of Clinical Pediatrics

基　　金：国家临床重点专科建设基金资助项目(小儿消化专科)(No.鄂卫通[2012]112)

摘　　要：目的 探讨HSD3B7 基因突变引起的3β- 羟基-Δ5-C27- 类固醇脱氢酶缺陷患儿的临床特点、肝脏超微结构及预后.方法 回顾性分析一家族中2 例3β- 羟基-Δ5-C27- 类固醇脱氢酶缺陷患儿的临床特点,并复习相关文献.结果 一家系中兄弟2 人均有不同程度的胆汁淤积、肝大、生长发育迟缓、双肾囊肿,转氨酶升高,γ- 谷氨酰转肽酶（γ-GT） 及总胆汁酸正常,肝脏病理提示肝内胆汁淤积、炎症细胞浸润、滑面内质网增生、糖原颗粒增多、毛细胆管扩张及增生.基因检测2例患儿均存在HSD3B7 基因c.130_131insA纯合突变.结论 婴儿期出现胆汁淤积、转氨酶升高、肝肿大,而γ-GT和总胆汁酸正常或降低,需警惕胆汁酸合成障碍,应尽早完善基因检测,以早期诊断及治疗.Objective To discuss the clinical features, hepatic ultrastructure, and prognosis of 3β-hydroxy-Δ5-C27 steroiddehydrogenase deficiency caused by mutation of HSD3B7 in children. Methods Clinical features of 3β-hydroxy-Δ5-C27 steroiddehydrogenase deficiency in two children from one family were analyzed retrospectively. The related literatures were alsoreviewed. Results Two children in one family had different degrees of cholestasis, hepatomegaly, growth retardation, andrenal cyst. The serum transaminases was elevated, and the γ-glutamyl GGT （γ-GT） and total bile acid were normal. The hepaticpathology showed intrahepatic cholestasis, inflammatory cell infiltration, hyperplasia of smooth endoplasmic reticulum, increaseof glycogenosome, and expansion and hyperplasia of bile capillary. Gene testing found homozygous mutation of HSD3B7（c.130_131insA） in both children. Conclusions It should be alerted to the possibility of the bile acid synthesis disorder, wheninfants have cholestasis, elevated transaminase, hepatomegaly, and normal or reduced γ-GT and total bile acid. Gene testingshould be completed as soon as possible for early diagnose and therapy.

关 键 词：胆汁淤积 代谢缺陷 先天性 基因 

分 类 号：R725.9[医药卫生—儿科]