【摘要】：胆汁淤积性肝病病因多样，先天性胆汁酸合成障碍（CBAS）就是其中之一。CBAS多属于常染色体隐性遗传，由胆汁酸合成过程中的酶缺陷所致。虽罕见，但由于CBAS病人多数早期可通过口服补充胆汁酸及脂溶性维生素等治疗获得良好疗效，因此早期明确诊断尤为重要。现对此病的病因、临床表现、诊断、治疗等作一综述。
【Abstract】：The etiologies of cholestatic liver disease are various and complicated. Congenital bile acid synthesis defect (CBAS) is about 1%-2% of children’s cholestasis. CBAS usually occured by autosomal recessive inheritance, due to various enzymes defect in bile acid synthesis. Although very rare, CBAS are treatable, usually by replacement of the deficient primary bile acids. Therefore, early diagnosis and treatment are very important for patients with CBAS. This paper summarized the etiology, clinical manifestations, diagnosis, treatment and so on.
【关键字】：胆汁淤积,肝内;先天性胆汁酸合成障碍
【Key words】：cholestasis, intrahepatic; congenital bile acid synthesis defect
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