ABCC8 (SUR1) 基因突变导致的先天性高胰岛素血症。
Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) gene.
机构信息
Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.
出版信息
Indian Pediatr. 2011 Sep;48(9):733-4.
PMID:21992908
Abstract
Congenital hyperinsulinism is the most frequent cause of severe, persistent hypoglycemia in infancy and childhood. We report a 2.5 year old girl with severe congenital hyperinsulinism. Mutation analysis showed that the child is a compound heterozygote for two missense mutations in the ABCC8 gene.
摘要
先天性高胰岛素血症是婴儿和儿童时期严重、持续性低血糖的最常见原因。我们报告了一例 2.5 岁的严重先天性高胰岛素血症女孩。突变分析显示，该患儿 ABCC8 基因存在两种错义突变的复合杂合子。
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