【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.
【Key words】：cholestasis, intrahepatic; congenital bile acid synthesis defect