Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation

被引：13

作者：

Ban, Hye Ryun ^{[1
]}

Kim, Kyung Mo ^{[1
]}

Jang, Joo Young ^{[1
]}

Kim, Gu-Hwan ^{[2
]}

You, Han-Wook ^{[1
,2
]}

Kim, Kyungeun ^{[3
]}

Yu, Eunsil ^{[3
]}

Kim, Dae Yeon ^{[4
]}

Kim, Ki Hun ^{[4
]}

Lee, Young Joo ^{[4
]}

Lee, Sung Gyu ^{[4
]}

Park, Young Nyun ^{[5
]}

Koh, Hong ^{[6
]}

Chung, Ki Sup ^{[6
]}

机构：

[1] Univ Ulsan, Coll Med, Dept Pediat, Asan Med Ctr, Seoul 138736, South Korea

[2] Univ Ulsan, Coll Med, Dept Med Genet Clin & Lab, Asan Med Ctr, Seoul 138736, South Korea

[3] Univ Ulsan, Coll Med, Dept Pathol, Asan Med Ctr, Seoul 138736, South Korea

[4] Univ Ulsan, Coll Med, Dept Surg, Asan Med Ctr, Seoul 138736, South Korea

[5] Yonsei Univ, Coll Med, Dept Pathol, Seoul, South Korea

[6] Yonsei Univ, Coll Med, Dept Pediat, Seoul, South Korea

来源：

GUT AND LIVER | 2009年 / 3卷 / 01期

关键词：

Glycogen storage disease type IV; GBE1; DNA analysis; Liver transplantation; Living donors; BRANCHING ENZYME GENE; DEFICIENCY;

D O I：

10.5009/gnl.2009.3.1.60

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

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. (Gut and Liver 2009;3:60-63)

引用

页码：60 / 63

页数：4

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