Sahebi Leyla, Niknafs Nikoo, Dalili Hosein, Amini Elahe, Esmaeilnia Tahereh, Amoli Mahsa, Farrokhzad Nahid
Institute of Family Health , Breastfeeding Research Center, Tehran University of Medical Science, Tehran, Iran.
Institute of Family Health, Maternal-Fetal and Neonatal Research Center, Tehran University of Medical Science, Tehran, Iran.
J Med Case Rep. 2019 Aug 1;13(1):258. doi: 10.1186/s13256-019-2149-x.
Neonatal diabetes mellitus with hyperglycemia during the first 6 months of life is a rare disorder that can occur in all races and societies.
In this study, we introduced an Iranian (Persian) 65-day-old patient with neonatal diabetes mellitus with novel homozygous mutation in the pancreatic and duodenal homeobox 1, PDX1, gene, which is also known as IPF1 gene, located in exon 2. This case was a newborn boy born in Vali-Asr Hospital, Tehran; he was diagnosed as having hyperglycemia on 28th day. Genetic analysis detected a homozygous mutation on PDX1 gene on chromosome 13. It is a novel homozygous mutation in the PDX1 gene (NM_000209.3), p.Phe167Val. This mutation was confirmed by Sanger sequencing. There was no evidence of agenesis of the pancreas.
We reported a case of neonatal diabetes mellitus due to novel homozygous mutation in the PDX1 gene without exocrine pancreas manifestations.
新生儿糖尿病是一种在生命最初6个月内出现高血糖的罕见疾病，可发生于所有种族和社会群体。
在本研究中，我们介绍了一名65日龄的伊朗（波斯）新生儿糖尿病患者，其胰腺和十二指肠同源盒1（PDX1）基因存在新的纯合突变，该基因也称为IPF1基因，位于第2外显子。该病例为一名在德黑兰瓦利阿斯尔医院出生的男婴；他在第28天被诊断为高血糖。基因分析检测到13号染色体上的PDX1基因存在纯合突变。这是PDX1基因（NM_000209.3）中的一种新的纯合突变，即p.Phe167Val。该突变通过桑格测序得到证实。没有胰腺发育不全的证据。
我们报告了一例因PDX1基因新的纯合突变导致的新生儿糖尿病，且无外分泌胰腺表现。
