一例先天性胆汁酸合成障碍2型患儿的临床及遗传学分析  

A case of congenital bile acid synthesis disorder type 2 and literature review

作　　者：刘嘉琪 周少明[1] 周建利[1] 苟静 程勇卫[1] 蔡华波[1] 代东伶[1] Liu Jiaqi , Zhou Shaoming , Zhou Jianli , Gou Jing , Cheng Yongwei , Cai Huabo , Dai Dongling(Department of Gastroenterology, Shenzhen Children ＇ s Hospital, Shenzhen , Guangdong 518038, Chin)

机构地区：[1]广东省深圳市儿童医院消化内科,518038

出　　处：《中华医学遗传学杂志》2018年第5期691-693,共3页Chinese Journal of Medical Genetics

摘　　要：目的探讨1例先天性胆汁酸合成障碍2型患儿的临床特点、生化改变以及遗传性特征。方法对患儿的l晦床表现、血生化及肝脏病理特点、基因检测结果及治疗进行总结。结果患儿于出生后3天出现黄疸，不伴皮肤瘙痒，大便呈白陶土色，后期出现肝脏增大、凝血功能障碍、左耳蜗神经损伤、肝硬化、明显生长发育滞后。血清生化检查显示胆红素、转氨酶升高，γ-谷氨酰转肽酶及总胆汁酸正常；超声显示胆囊收缩功能降低；肝内胆管显影良好，胆道通畅；肝脏病理示胆汁淤积。基因检测提示患儿携带AKR1D1基因纯合突变。结论新生儿期出现黄疸，胆红素和转氨酶升高、胆汁酸及γ-谷氨酰转肽酶正常或降低时，需警惕先天性胆汁酸合成障碍的可能性，可通过基因检测确诊，有条件者可进行尿液质谱分析，早期治疗非常重要。Objective To summarize the clinical features, biochemical change and genetic mutations of a neonate with congenital bile acid synthesis disorder type 2. Methods Clinical features, blood biochemical index, gene analysis and treatment of the patient were reviewed. Results The patient presented with the symptoms of jaundice 3 days after birth but without skin itching. Pale stool was noted. Subsequently, he presented with hepatomegaly, blood coagulation disorders, left cochlear nerve damage, liver cirrhosis and remarkable growth retardation. Serum biochemistries showed that bilirubin and transaminase were elevated, while γ-GT and total bile acid was normal. Abdominal ultrasonography indicated decline of gallbladder contraction. Cholangiography showed normal extra- and intrahepatic bile ducts and patent biliary tract. Liver biopsy showed intrahepatic cholestasis. Gene testing has identified a homozygous mutation in AKR1D1 gene. Conclusion Congenital bile acid synthesis disorder should be suspected when a neonate has presented with jaundice, elevated bilirubin and transaminase, normal or reduced TBA and γ-GT. Genetic testing and urine mass spectrometry analysis can diagnose congenital bile acid synthesis disorder. Early therapy is crucial to patients with congenital bile acid synthesis disorder.

关 键 词：胆汁酸合成障碍 基因 突变 婴儿 

分 类 号：R725.7[医药卫生—儿科] R440[医药卫生—临床医学]