3β-羟基-△5-C27-类固醇脱氢酶缺陷一例分析及文献复习  

Clinical features of a Chinese infant with inborn error of bile acid metabolism--3β-hydroxy-As -C27- steroid dehydrogenase deficiency and review of the literature

作　　者：杨天娇[1] 谢新宝[1] 姚玮蕾[1] 王慧君 俞蕙[1] 王晓红[1] 

机构地区：[1]复旦大学儿科医院感染科、儿童肝病中心,上海201102 [2]转化医学中心

出　　处：《中华儿科杂志》2013年第8期625-629,共5页Chinese Journal of Pediatrics

摘　　要：目的探讨原发性胆汁酸合成障碍中3β-羟基-△5-C27-类固醇脱氢酶缺陷患儿的临床特点、治疗进展。方法对经HSD387基因突变分析明确诊断的1例固醇脱氢酶缺陷患儿，回顾性分析临床特点、治疗经验，并对2000年以来国外报道的51例进行了文献复习。结果（1）病例为3个月婴儿，自新生儿期出现胆汁淤积，血清生化：总胆红素110．7μmol／L，直接胆红素74．5μmol／L，叫一谷氨酰转肽酶24．4IU／L，血清总胆汁酸0．1μmol／L，给予胆酸片替代治疗后，胆汁淤积减退，临床症状及血清生化指标很快好转，基因突变检测明确患儿存在HSD387基因复合杂合突变，确诊为原发性胆汁酸合成障碍中的最常见类型3β-羟基-△5-C27-类固醇脱氢酶缺陷。（2）回顾国外报道的51例患儿的资料，多在新生儿期出现胆汁淤积，不给予及时、针对性治疗部分患儿可进展至严重肝病，需要肝移植；而与临床胆汁淤积不相符的是血清生化特点是y-谷氨酰转肽酶水平正常，血清胆汁酸浓度低于或在正常范围，初级胆汁酸的替代治疗可使临床症状好转；其中的31例患儿检测HSD387基因存在致病突变。结论3β-羟基-△5-C27-类固醇脱氢酶缺陷患儿存在新生儿胆汁淤积，血清Y-谷氨酰转肽酶水平正常，血清胆汁酸浓度低于或在正常范围，及时给予初级胆汁酸替代治疗可明显改善受累患儿肝功能，缓解病情。HSD387基因检测能够发现致病突变。Objective To study the clinical features of children with 3β-hydroxy-AS-C27-steroid dehydrogenase deficiency and review the literature. Method Clinical features and treatment of one Chinese infant with 3β-hydroxy-AS-C27-steroid dehydrogenase deficiency confirmed by HSD3B7 gene mutation analysis were retrospectively reviewed, and 51 cases of 3β-hydroxy-A5-C27-steroid dehydrogenase deficiency who were internationally reported since 2000 were also reviewed in this paper. Result （ 1 ） A 3-month-old infant with neonatal cholestasis was admitted to our hospital because of hyperbilirubinemia and abnormal liver dysfunction （ total bilirubin 110. 7 p.mol/L, direct bilirubin 74. 5 ixmol/L, ＂,/-glutamyltransferase 24. 4 IU/ L, total bile acid 0. 1 Ixmol/L）. His jaundice disappeared within a few weeks, serum liver biochemistries improved and his growth in weight and height was excellent after oral cholie acid therapy. HSD3B7 gene analysis using peripheral lymphocyte genomic DNA from the patient identified compound heterozygous mutations. This child was confirmed as the most common inborn error of bile acid metabolism-3β-hydroxy-A5 - C27-steroid dehydrogenase deficiency by molecular analysis. （2） Retrospective review of the literature showed that the clinical features of 3β-hydroxy-AS-C27-steroid dehydrogenase deficiency included neonatal cholestasis, some patients progressed to severe liver disease and needed liver transplantation without effective therapy; however, serum biochemical characteristics of normal ＂y-glutamyltransferase activity, normal or low total bile acid concentrations were not consistent with cholestasis, the replacement treatment with cholic aeid produced a dramatic improvements in symptoms, biochemical markers of liver injury; 31 cases were diagnosed by HSD3B7 ene mutation analysis. Conclusion The clinical characteristics of 3β-hvdroxv-A5-C27-steroid dehydrogenase deficiency include neonatal cholestasis, normal serum ＂,/-glutamyhransferase activity, and normal or low serum total bi

关 键 词：胆汁淤积 肝内 代谢缺陷 先天性 基因测定 

分 类 号：R725.9[医药卫生—儿科]