Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume-shi, Japan.
J Inherit Metab Dis. 2013 May;36(3):565-73. doi: 10.1007/s10545-012-9526-6. Epub 2012 Nov 16.
In two Japanese infants with neonatal cholestasis, 3-oxo-Δ(4)-steroid 5β-reductase deficiency was diagnosed based on mutations of the SRD5B1 gene. Unusual bile acids such as elevated 3-oxo-Δ(4) bile acids were detected in their serum and urine by gas chromatography-mass spectrometry. We studied effects of oral chenodeoxycholic acid treatment.
SRD5B1 gene analysis used peripheral lymphocyte genomic DNA. Diagnosis and treatment of these two patients were investigated retrospectively and prospectively investigated.
With respect to SRD5B1, one patient was heterozygous (R266Q, a novel mutation) while the other was a compound heterozygote (G223E/R261C). Chenodeoxycholic acid treatment was effective in improving liver function and decreasing unusual bile acids such as 7α-hydroxy- and 7α,12α-dihydroxy-3-oxo-4-cholen-24-oic acids in serum and urine.
Primary bile acid treatment using chenodeoxycholic acid was effective for these patients treated in early infancy before the late stage of chronic cholestatic liver dysfunction.
两名新生儿胆汁淤积症的日本婴儿，根据 SRD5B1 基因突变，被诊断为 3-氧代-Δ(4)-甾体 5β-还原酶缺乏症。通过气相色谱-质谱联用技术，在他们的血清和尿液中检测到升高的 3-氧代-Δ(4)胆汁酸等异常胆汁酸。我们研究了口服鹅脱氧胆酸治疗的效果。
使用外周血淋巴细胞基因组 DNA 进行 SRD5B1 基因分析。对这两名患者进行回顾性和前瞻性研究。
对于 SRD5B1，一名患者为杂合子（R266Q，一种新突变），另一名患者为复合杂合子（G223E/R261C）。鹅脱氧胆酸治疗有效，改善了肝功能，并降低了血清和尿液中异常胆汁酸的水平，如 7α-羟基-和 7α,12α-二羟基-3-氧代-4-胆烷-24-酸。
在慢性胆汁淤积性肝功能障碍晚期之前的婴儿早期，使用鹅脱氧胆酸进行原发性胆汁酸治疗对这些患者有效。
