Abdelmeguid Yasmine, Mowafy Ehsan Wafa, Marzouk Iman, Franco Elisa De, ElSayed Shaymaa
Faculty of Medicine, Alexandria University, Alexandria, Egypt.
University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, UK.
Ann Pediatr Endocrinol Metab. 2022 Sep;27(3):214-222. doi: 10.6065/apem.2142184.092. Epub 2022 Jan 26.
In patients diagnosed with diabetes mellitus (DM) before the age of 12 months, there is an increasing recognition of diabetes caused by single-gene mutations, also known as monogenic diabetes of infancy or neonatal DM (NDM). This study aimed to classify patients at Alexandria University Children's Hospital (AUCH) diagnosed with infantile-onset DM into type 1 DM (T1DM) or NDM and to detect differences in molecular characteristics of NDM patients at our center in comparison to other countries.
This retrospective/prospective observational study was conducted on 39 patients diagnosed with infantile-onset DM (age of onset ≤1 year) at AUCH from January 2003 to November 2020. The patients were divided into 2 groups according to age at the onset of DM: ≤6 months and >6-12 months. Molecular testing was done in patients diagnosed with DM at ≤6 months and those with negative autoantibodies.
Twelve patients were diagnosed with DM at age ≤6 months and 27 patients were diagnosed between 6-12 months. Seventeen patients (43.6%) had T1DM, whereas 9 patients (23.1%) had genetically confirmed NDM, including 3 harboring novel mutations. The most common genetic causes of NDM were EIF2AK3 mutations (n=3), followed by KCNJ11 (n=2) and ABCC8 (n=2). Other mutations included SLC19A2 (n=1) and INS (n=1). Three patients with potassium ATP channel mutations were transferred from insulin to sulfonylurea treatment.
It is essential to identify patients with NDM clinically and confirm the diagnosis by molecular testing to distinguish them from T1DM as it helps in refining their management, predicting prognosis, and guiding genetic counseling.
在12个月龄前被诊断为糖尿病（DM）的患者中，由单基因突变引起的糖尿病，即婴儿期单基因糖尿病或新生儿糖尿病（NDM），越来越受到关注。本研究旨在将亚历山大大学儿童医院（AUCH）诊断为婴儿期发病糖尿病的患者分为1型糖尿病（T1DM）或NDM，并检测本中心NDM患者与其他国家患者在分子特征上的差异。
本回顾性/前瞻性观察性研究对2003年1月至2020年11月在AUCH诊断为婴儿期发病糖尿病（发病年龄≤1岁）的39例患者进行。根据糖尿病发病年龄将患者分为2组：≤6个月和>6 - 12个月。对发病年龄≤6个月且自身抗体阴性的糖尿病患者进行分子检测。
12例患者在≤6个月龄时被诊断为糖尿病，27例患者在6 - 12个月龄时被诊断为糖尿病。17例患者（43.6%）患有T1DM，而9例患者（23.1%）经基因确诊为NDM，其中3例携带新突变。NDM最常见的遗传病因是EIF2AK3突变（n = 3），其次是KCNJ11（n = 2）和ABCC8（n = 2）。其他突变包括SLC19A2（n = 1）和INS（n = 1）。3例钾离子ATP通道突变患者从胰岛素治疗转为磺脲类药物治疗。
临床上识别NDM患者并通过分子检测确诊，将其与T1DM区分开来至关重要，因为这有助于优化治疗管理、预测预后并指导遗传咨询。
