Kimura A, Kondo K H, Okuda K I, Higashi S, Suzuki M, Kurosawa T, Tohma M, Inoue T, Nishiyori A, Yoshino M, Kato H, Setoguchi T
Department of Paediatrics and Child Health, Kurume University School of Medicine, Japan.
Eur J Pediatr. 1998 May;157(5):386-90. doi: 10.1007/s004310050835.
A 3-oxo-delta4-steroid 5beta-reductase (5beta-reductase) deficiency is difficult to diagnose because severe liver damage can result in a similar pattern of metabolite excretion. We investigated the usefulness of immunoblot analysis for diagnosis of 5beta-reductase deficiency and quantitatively analysed urinary bile acids by gas chromatography-mass spectrometry in a 5-month-old Japanese boy with severe neonatal cholestasis associated with hypertyrosinaemia. A liver sample was examined by immunoblot analysis using monoclonal antibodies against 5beta-reductase. Urinary 3-oxo-delta4 bile acids accounted for 88.3% of total bile acids, 5alpha-bile acids for 0.9%, and primary bile acids for 9.1%. Immunoblot analysis of the liver tissue showed an indistinct band of 5beta-reductase.
These findings suggest that this patient had a secondary 5beta-reductase deficiency due to severe liver damage, even though 3-oxo-delta4 bile acids constituted more than 70% of total urinary bile acids. However, the patient may possibly have had an inherited 5beta-reductase deficiency.
3-氧代-δ4-类固醇5β-还原酶（5β-还原酶）缺乏症难以诊断，因为严重的肝损伤可导致类似的代谢物排泄模式。我们在一名患有严重新生儿胆汁淤积症并伴有高酪氨酸血症的5个月大日本男孩中，研究了免疫印迹分析对诊断5β-还原酶缺乏症的实用性，并通过气相色谱-质谱法定量分析了尿胆汁酸。使用抗5β-还原酶的单克隆抗体通过免疫印迹分析检查肝脏样本。尿中3-氧代-δ4胆汁酸占总胆汁酸的88.3%，5α-胆汁酸占0.9%，初级胆汁酸占9.1%。肝脏组织的免疫印迹分析显示5β-还原酶的条带不清晰。
这些发现表明，尽管3-氧代-δ4胆汁酸占尿总胆汁酸的70%以上，但该患者因严重肝损伤而继发5β-还原酶缺乏症。然而，该患者可能存在遗传性5β-还原酶缺乏症。
