Successful Heterozygous Living Donor Liver Transplantation for an Oxysterol 7α-Hydroxylase Deficiency in a Japanese Patient
Successful Heterozygous Living Donor Liver Transplantation for an Oxysterol 7α-Hydroxylase Deficiency in a Japanese Patient
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DOI：
10.1002/lt.22331
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发表时间：
2011-09-01
影响因子：
4.6
通讯作者：
Kasahara, Mureo
中科院分区：
文献类型：
--
作者：
Mizuochi, Tatsuki;Kimura, Akihiko;Kasahara, Mureo
据报道，仅 2 例患者因细胞色素 P450 7B1 (CYP7B1) 基因突变而导致氧化甾醇 7 α-羟化酶缺乏症；对于两人来说，结果都是致命的。我们描述了第三位患者的临床和实验室特征、肝脏和肾脏组织学检查结果以及胆汁酸和 CYP7B1 基因分析结果。这名日本婴儿患有进行性胆汁淤积性肝病，并成功接受了杂合活体肝移植。相关数据来源包括病历、肝肾组织病理学结果、血清和尿液样本中胆汁酸的气相色谱/质谱分析以及外周血淋巴细胞DNA中CYP7B1基因的分析。在患者的血清和尿液中检测到大量过量的3β-羟基-5-胆-24-油酸。记录了肾脏的肝硬化和多囊性改变。 CYP7B1 基因复合杂合突变 (R112X/R417C) 的证实导致氧化甾醇 7 α-羟化酶缺陷的诊断。使用来自杂合子活体供体（患者母亲）的同种异体肝移植后，失代偿性肝细胞衰竭的特征减轻，肾脏异常得到解决。总之，我们报告了第一例与 CYP7B1 基因复合杂合突变相关的氧化甾醇 7 α-羟化酶缺乏症的日本患者；在该患者中，使用来自父母供体的同种异体肝移植是有效的。肝脏移植 17：1059-1065，2011。(C) 2011 AASLD。
Only 2 patients with an oxysterol 7 alpha-hydroxylase deficiency caused by mutations of the cytochrome P450 7B1 (CYP7B1) gene have been reported; for both, the outcome was fatal. We describe the clinical and laboratory features, the hepatic and renal histological findings, and the results of bile acid and CYP7B1 gene analyses for a third patient. This Japanese infant presented with progressive cholestatic liver disease and underwent successful heterozygous living donor liver transplantation. Sources of relevant data included medical records, hepatic and renal histopathological findings, gas chromatography/mass spectrometry analyses of bile acids in serum and urine samples, and analyses of the CYP7B1 gene in the DNA of peripheral blood lymphocytes. Large excesses of 3 beta-hydroxy-5-cholen-24-oic acid were detected in the patient's serum and urine. Cirrhosis and polycystic changes in the kidneys were documented. The demonstration of compound heterozygous mutations (R112X/R417C) of the CYP7B1 gene led to the diagnosis of an oxysterol 7 alpha-hydroxylase deficiency. After liver transplantation with an allograft from a heterozygous living donor (the patient's mother), the features of decompensated hepatocellular failure abated, and the renal abnormalities were resolved. In conclusion, we report the first Japanese patient with an oxysterol 7 alpha-hydroxylase deficiency associated with compound heterozygous mutations of the CYP7B1 gene; in this patient, liver transplantation with an allograft from a parental donor was effective. Liver Transpl 17: 1059-1065, 2011. (C) 2011 AASLD.