Maly Jakub, Urbanova Jana, Musil Vladimir, Broz Jan, Cerny Milos, Brunerova Ludmila
Department of Children and Adolescents, Faculty Hospital Kralovske Vinohrady, Prague, Czechia.
Third Faculty of Medicine, 60571 Charles University , Prague, Czechia.
J Pediatr Endocrinol Metab. 2025 Apr 28;38(6):570-576. doi: 10.1515/jpem-2025-0042. Print 2025 Jun 26.
Neonatal hypoglycaemia is the most common metabolic disorder of various causes, relatively rare being MODY (Maturity Onset Diabetes of the Young).
Data search of relevant articles focused on hypoglycaemia in carriers of selected MODY gene mutations published from 2007 to 2022 was performed in databases Medline, PubMed, Cochrane and UptoDate based on key words: 'hyperinsulinemic hypoglycaemia', 'congenital hyperinsulinism', 'MODY', ' mutation', ' mutation'.
Loss of function of and genes comprises approximately to 5.9 % of diazoxide responsive hyperinsulinemic hypoglycaemia, which may appear in 15 % mutation carriers. A typical finding of mutation carriers with neonatal hypoglycaemia was a birth weight above 4000 g or above 97th percentile.
Although mutations in MODY genes represent a rare cause of neonatal hypoglycaemia, they should be considered in the differential diagnosis, particularly in cases of persistent hypoglycaemia requiring intensive care.
新生儿低血糖是由多种原因引起的最常见的代谢紊乱，而青少年发病的成年型糖尿病（MODY）相对少见。
在Medline、PubMed、Cochrane和UptoDate数据库中，基于关键词“高胰岛素血症性低血糖症”“先天性高胰岛素血症”“MODY”“突变”“突变”，对2007年至2022年发表的关于特定MODY基因突变携带者低血糖的相关文章进行了数据检索。
基因和基因功能丧失约占二氮嗪反应性高胰岛素血症性低血糖症的5.9%，这可能出现在15%的突变携带者中。携带突变的新生儿低血糖患者的一个典型表现是出生体重超过4000克或高于第97百分位数。
尽管MODY基因突变是新生儿低血糖的罕见原因，但在鉴别诊断中应予以考虑，特别是在需要重症监护的持续性低血糖病例中。
