Division of Pediatric Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, 240 Sabin Way, Cincinnati, OH 45229, USA; Division of Pathology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, 240 Sabin Way, Cincinnati, OH 45229, USA.
Division of Pediatric Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, 240 Sabin Way, Cincinnati, OH 45229, USA; Division of Pathology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, 240 Sabin Way, Cincinnati, OH 45229, USA.
Clin Liver Dis. 2018 Nov;22(4):671-687. doi: 10.1016/j.cld.2018.06.006. Epub 2018 Aug 22.
Inborn errors of bile acid metabolism are rare causes of neonatal cholestasis and liver disease in older children and adults. The diagnosis should be considered in the context of hyperbilirubinemia with normal serum bile acids and made by urinary liquid secondary ionization mass spectrometry or DNA testing. Cholic acid is an effective treatment of most single-enzyme defects and patients with Zellweger spectrum disorder with liver disease.
先天性胆汁酸代谢缺陷是新生儿胆汁淤积症和年长儿及成人肝病的罕见病因。当血清胆汁酸正常而高胆红素血症存在时，应考虑该诊断，可通过尿液相二次离子质谱或 DNA 检测进行诊断。胆酸是大多数单一酶缺陷和有肝病的 Zellweger 谱系障碍患者的有效治疗药物。
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