韩国一名患有糖原贮积病 IV 型和 GBE1 突变的儿童接受活体供肝肝移植。
Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation.
机构信息
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
出版信息
Gut Liver. 2009 Mar;3(1):60-3. doi: 10.5009/gnl.2009.3.1.60. Epub 2009 Mar 31.
Abstract
Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal glycogen deposits in the liver and other tissues. We treated a 20-month-old girl who presented with progressive liver cirrhosis and was diagnosed with GSD-IV, as confirmed by GBE1 gene mutation analysis, and underwent living related heterozygous donor liver transplantation. Direct sequencing of the GBE1 gene revealed that the patient was compound heterozygous for a known c.1571G>A (p.Gly264Glu) mutation a novel c.791G>A (Arg524Gln) mutation. This is the first report of a Korean patient with GSD-IV confirmed by mutation analysis, who was treated successfully by liver transplantation.
摘要
糖原贮积病Ⅳ型（GSD-IV）是一种常染色体隐性遗传病，由糖原分支酶（GBE）缺乏引起，该酶由 GBE1 基因编码，导致肝脏和其他组织中异常糖原沉积的积累。我们治疗了一名 20 个月大的女孩，她因进行性肝硬化就诊，并通过 GBE1 基因突变分析确诊为 GSD-IV，并接受了活体相关杂合供体肝移植。GBE1 基因的直接测序显示，患者为已知的 c.1571G>A（p.Gly264Glu）突变的复合杂合子，以及新的 c.791G>A（Arg524Gln）突变。这是首例通过突变分析证实的韩国 GSD-IV 患者的报告，该患者通过肝移植成功治疗。
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