目的 分析先天性胆汁酸合成障碍2型的临床及基因变异特征。方法 回顾分析8例先天性胆汁酸合成障碍 2型患儿的临床资料。结果 8例患儿中，男性6例、女性2例，于出生6 ~12周因黄疸就诊，中位诊断年龄4.7个月。6例患 儿排浅黄色大便，均为胆汁淤积性肝病，胆汁酸无异常。6例患儿γ-GT无异常，3例患儿有凝血障碍，5例患儿有血氨基酸 谱改变。彩色超声示胆囊充盈差或不充盈。8例患儿均发现AKR 1 D 1基因变异。4例为AKR 1 D 1纯合变异，3例复合杂合变 异，1例单杂合变异，结合尿类固醇分析明确诊断。结论 先天性胆汁酸合成障碍2型患儿在婴儿早期即可出现胆汁淤积， γ-GT及胆汁酸无明显异常，部分可出现凝血功能障碍。基因和尿类固醇检测可明确诊断。

Objective To explore the clinical features and characteristics of genetic variation in congenital bile acid synthesis disorder type 2. Method The clinical data of congenital bile acid synthesis disorder type 2 in 8 children was retrospectively analyzed. Results Eight children ( 6 boys and 2 girls) had clinic visit for jaundice between 6 and 12 weeks after birth, and the median diagnosis age was 4 . 7 months. Six children had pale yellow stools, and all had cholestatic hepatitis with normal bile acid. There was normalγ-GT in 6 cases, coagulation disorder in 3 cases and amino acid changes in 5 cases. Color Doppler ultrasonography showed poor or no filling of gallbladder. AKR 1 D 1 gene mutation was found in all 8 cases. Four cases were AKR1D 1 homozygous variants, 3 cases were compound heterozygous variants, and one case was single-heterozygous variants. In combination with urine steroid analysis, the diagnosis was confirmed. Conclusions Cholestasis can be found in children with congenital bile acid synthesis disorder type 2 in early infancy. There is no obvious abnormality in γ - GT and bile acid, and coagulation dysfunction can be found in some cases. Gene and urine steroid detection can confirm the diagnosis.