摘要
先天性高胰岛素血症性低血糖(congenital hyperinsulinemic hypoglycemia,CHH)是由于胰岛素失调和分泌过多所致,以低血糖为主要临床表现的一组罕见的异质性疾病,也是婴儿和儿童持续性低血糖症的最常见原因。约40%患儿检出相关基因突变,其中编码K_(ATP)的ABCC8或KCNJ11基因的失活突变最为常见。诊断延误和治疗不当可导致患儿发生永久性脑损伤。因此,尽早识别和正确诊治对于预防CHH脑损害至关重要。该文综述了K_(ATP)基因失活突变导致CHH的分子发病机制、ABCC8或KCNJ11基因突变对CHH患儿胰腺病变病理类型与低血糖严重程度和治疗方案选择的影响以及CHH的临床诊断和治疗最新进展,以提高临床医师对CHH的认识。
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.
作者
陈榴(综述)
于宝生(审校)
Chen Liu;Yu Baosheng(Department of Pediatric Endocrinology,Second Affiliated Hospital of Nanjing Medical University,Nanjing 210003,China)
出处
《国际儿科学杂志》
2022年第6期397-401,共5页
International Journal of Pediatrics
