Mutations in K ATP channel genes and congenital hyperinsulinemic hypoglycemia
10.3760/cma.j.issn.1673-4408.2022.06.010
- VernacularTitle:K ATP基因突变与先天性高胰岛素血症性低血糖
- Author:
Liu CHEN
1
;
Baosheng YU
Author Information
1. 南京医科大学第二附属医院小儿内分泌科 210003
- Keywords:
Hypoglycemia;
Hyperinsulinemia;
ABCC8/KCNJ11 gene mutation;
Molecular pathogenesis
- From:
International Journal of Pediatrics
2022;49(6):397-401
- CountryChina
- Language:Chinese
-
Abstract:
Congenital hyperinsulinemic hypoglycemia(CHH)is a group of rare heterogeneous diseases with hypoglycemia as the main clinical manifestation caused by insulin imbalance and excessive secretion.It is the most common cause of persistent hypoglycemia in infants and children.Related gene mutations were detected in about 40% of patients, among which inactivating mutations in ABCC8 or KCNJ11 genes are the most common.Delay in diagnosis and improper treatment can cause permanent brain damage in infants and children with CHH.Therefore, early identification and correct diagnosis and treatment are important and essential to prevent brain damage in infants and children with CHH.This article reviews the molecular pathogenesis of CHH caused by K ATP gene inactivation mutations, the impact of ABCC8 or KCNJ11 gene mutations on the pathological types of pancreas, the severity of hypoglycemia and the choice of clinical treatment options in children with CHH, as well as the latest progress in clinical diagnosis and treatment of CHH, in order to improve clinicians′ awareness of CHH.
