Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Pudhucherry, India.
Indian J Pediatr. 2010 Jul;77(7):803-4. doi: 10.1007/s12098-010-0100-7. Epub 2010 Jun 29.
Hyperinsulinemic hypoglycemia is the most common cause of persistent hypoglycemia in infancy. While most of the cases are sporadic more than 100 mutations have been reported in the familial type. The authors report a case of familial hyperinsulinemic hypoglycemia with homozygous T294M mutation of the KCNJ11 gene, which responded to diazoxide therapy.
高胰岛素血症性低血糖是婴儿期持续性低血糖最常见的原因。虽然大多数病例为散发性，但在家族型中已报道超过 100 种突变。作者报告了一例 KCNJ11 基因 T294M 突变的家族性高胰岛素血症性低血糖症，该患者对二氮嗪治疗有反应。
