TOP > 疾患別 > 先天性胆汁酸代謝異常症



  • 特徴的臨床症状は、胆汁うっ滯があるにもかかわらず掻痒感がないことです。
  • 特徴的検査所見は、閉塞性黄疸があるにもかかわらずγ-GTPと総胆汁酸値が正常範囲であることです。








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Ichimiya H, et al. Bile acids and bile alcohols in a child with hepatic 3β-hydroxy-Δ5-C27-steroid dehydrogenase deficiency: effects of chenodeoxycholic acid treatment. J Lipid Res 1991; 32: 829-41.
Gonzales E, et al. Oral cholic acid for hereditary defects of primary bile acid synthesis: a safe and effective long-term therapy. Gastroenterology 2009; 137: 1310-20.
Ueki I, et al. SED5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Δ4-steroid 5β-reductase deficiency. J Gastroenterol Hepatol 2009; 24: 76-85.

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