Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation

被引:2
|
作者
Kim, Jee-Min [1 ]
Kim, Seul-Ki [1 ]
Kim, Shin-Hee [1 ]
Cho, Won-Kyoung [1 ]
Cho, Kyoung-Soon [1 ]
Jung, Min-Ho [1 ]
Suh, Byung-Kyu [1 ]
Ahn, Moon-Bae [1 ]
机构
[1] Catholic Univ Korea, Coll Med, Dept Pediat, Seoul 06591, South Korea
来源
MEDICINA-LITHUANIA | 2021年 / 57卷 / 06期
关键词
paired box-6 gene; aniridia; congenital hyperinsulinism; glucose intolerance; diabetes mellitus; ANIRIDIA;
D O I
10.3390/medicina57060582
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Prolonged hyperinsulinemic hypoglycemia in infancy can result in developmental sequelae. A mutation in the paired box-6 gene (PAX6) has been reported to cause disorders in oculogenesis and neurogenesis. A limited number of cases of diabetes mellitus in adults with a PAX6 mutation suggest that the gene also plays a role in glucose homeostasis. The present case report describes a boy with a PAX6 mutation, born with anophthalmia, who underwent hypoglycemic seizures starting at 5 months old, and showed a prediabetic condition at 60 months. This patient provides novel evidence that connects PAX6 to glucose homeostasis and highlights that life-threatening hypoglycemia or early onset glucose intolerance may be encountered. The role of PAX6 in glucose metabolism and insulin regulation should be further investigated.
引用
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页数:7
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