Diagnosis and management of hyperinsulinaemic hypoglycaemia

被引:36
作者
Galcheva, Sonya [1 ]
Al-Khawaga, Sara [2 ]
Hussain, Khalid [2 ]
机构
[1] Varna Med Univ, Dept Paediat, Univ Hosp St Marina, Varna, Bulgaria
[2] Sidra Med & Res Ctr, Dept Paediat Med, Div Endocrinol, Al Luqta St,Educ City North Campus, Doha, Qatar
基金
英国医学研究理事会;
关键词
hyperinsulinism; hypoglycaemia; diazoxide; octreotide; sirolimus; PANCREATIC BETA-CELLS; TRANSIENT NEONATAL HYPERINSULINISM; SEVERE CONGENITAL HYPERINSULINISM; GLUCAGON-LIKE PEPTIDE-1; INSULIN-SECRETION; GLUTAMATE-DEHYDROGENASE; PERSISTENT HYPOGLYCEMIA; SULFONYLUREA RECEPTOR; SIROLIMUS THERAPY; HYPERTROPHIC CARDIOMYOPATHY;
D O I
10.1016/j.beem.2018.05.014
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Hyperinsulinaemic hypoglycaemia (HH) is a heterogeneous condition with dysregulated insulin secretion which persists in the presence of low blood glucose levels. It is the most common cause of severe and persistent hypoglycaemia in neonates and children. Recent advances in genetics have linked congenital HH to mutations in 14 different genes that play a key role in regulating insulin secretion (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNFIA, HK1, PGM1, PPM2, CACNAID, FOXA2). Histologically, congenital HH can be divided into 3 types: diffuse, focal and atypical. Due to the biochemical basis of this condition, it is essential to diagnose and treat HH promptly in order to avoid the irreversible hypoglycaemic brain damage. Recent advances in the field of HI-I include new rapid molecular genetic testing, novel imaging methods (18F-DOPA PET/CT), novel medical therapy (long-acting octreotide formulations, mTOR inhibitors, GLP-1 receptor antagonists) and surgical approach (laparoscopic surgery). The review article summarizes the current diagnostic methods and management strategies for HH in children. (C) 2018 Elsevier Ltd. All rights reserved.
引用
收藏
页码:551 / 573
页数:23
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