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 steroid dehydrogenase deficiency caused by mutation of HSD3B7 in children. Methods Clinical features of 3β-hydroxy-Δ5-C27 steroid dehydrogenase deficiency in two children from one family were analyzed retrospectively. The related literatures were also reviewed. Results Two children in one family had different degrees of cholestasis, hepatomegaly, growth retardation, and renal cyst. The serum transaminases was elevated, and the γ-glutamyl GGT (γ-GT) and total bile acid were normal. The hepatic pathology showed intrahepatic cholestasis, inflammatory cell infiltration, hyperplasia of smooth endoplasmic reticulum, increase of 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, when infants have cholestasis, elevated transaminase, hepatomegaly, and normal or reduced γ-GT and total bile acid. Gene testing should be completed as soon as possible for early diagnose and therapy.