Department of Endocrinology, Amrita Institute of Medical Sciences (AIMS), Cochin, Kerala, India.
Pediatr Diabetes. 2021 Feb;22(1):75-81. doi: 10.1111/pedi.13040. Epub 2020 May 31.
Monogenic forms of diabetes in children are frequently misclassified as either type 1 diabetes or young-onset type 2 diabetes. There is a paucity of literature regarding pediatric monogenic diabetes in the Indian population. A retrospective analysis of case records of 37 children with monogenic diabetes who were diagnosed between 2008 and 2019 in a South Indian tertiary care center was performed. The write-up describes the clinical, biochemical, and genetic characterization of these patients with the diagnoses of neonatal diabetes mellitus (15 patients), MODY (five patients), and various forms of syndromic diabetes (13 with Wolfram syndrome, two with H syndrome, one with mitochondrial diabetes, and one with thiamine responsive megaloblastic anemia).
儿童单基因糖尿病常被误诊为 1 型糖尿病或早发 2 型糖尿病。关于印度人群中单基因糖尿病的文献很少。对 2008 年至 2019 年在印度南部一家三级保健中心诊断的 37 例单基因糖尿病患儿的病历进行了回顾性分析。本报告描述了这些患者的临床、生化和遗传特征，诊断为新生儿糖尿病（15 例）、MODY（5 例）和各种综合征性糖尿病（13 例伴 Wolfram 综合征、2 例伴 H 综合征、1 例伴线粒体糖尿病、1 例伴硫胺素反应性巨幼细胞性贫血）。
