Bursa Uludağ University Faculty of Medicine, Department of Pediatric Endocrinology, Bursa, Turkey
University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom
J Clin Res Pediatr Endocrinol. 2021 Feb 26;13(1):80-87. doi: 10.4274/jcrpe.galenos.2020.2020.0093. Epub 2020 Aug 21.
Neonatal diabetes mellitus (NDM) may be transient or permanent, and the majority is caused by genetic mutations. Early diagnosis is essential to select the patients who will respond to oral treatment. In this investigation, we aimed to present the phenotype and genotype of our patients with NDM and share our experience in a single tertiary center
A total of 16 NDM patients from 12 unrelated families are included in the study. The clinical presentation, age at diagnosis, perinatal and family history, consanguinity, gender, hemoglobin A1c, C-peptide, insulin, insulin autoantibodies, genetic mutations, and response to treatment are retrospectively evaluated.
The median age at diagnosis of diabetes was five months (4 days-18 months) although six patients with a confirmed genetic diagnosis were diagnosed >6 months. Three patients had mutations, six had mutations, three had mutations, and one had a mutation. All the permanent NDM patients with and mutations were started on sulfonylurea treatment resulting in a significant increase in C-peptide level, better glycemic control, and discontinuation of insulin.
Although NDM is defined as diabetes diagnosed during the first six months of life, and a diagnosis of type 1 diabetes is more common between the ages of 6 and 24 months, in rare cases NDM may present as late as 12 or even 24 months of age. Molecular diagnosis in NDM is important for planning treatment and predicting prognosis. Therefore, genetic testing is essential in these patients.
新生儿糖尿病（NDM）可能是一过性的，也可能是永久性的，大多数是由基因突变引起的。早期诊断对于选择将对口服治疗有反应的患者至关重要。在本研究中，我们旨在介绍我们的 NDM 患者的表型和基因型，并在单一的三级中心分享我们的经验。
本研究共纳入了 12 个不相关家庭的 16 名 NDM 患者。回顾性评估了他们的临床表现、诊断时的年龄、围产期和家族史、近亲结婚、性别、糖化血红蛋白、C 肽、胰岛素、胰岛素自身抗体、基因突变以及治疗反应。
尽管有 6 名经基因确诊的患者的诊断时间超过 6 个月，但糖尿病的中位诊断年龄为 5 个月（4 天-18 个月）。3 名患者存在 基因突变，6 名患者存在 基因突变，3 名患者存在 基因突变，1 名患者存在 基因突变。所有携带 和 突变的永久性 NDM 患者均开始接受磺脲类药物治疗，导致 C 肽水平显著升高，血糖控制更好，并且停止使用胰岛素。
尽管 NDM 被定义为出生后 6 个月内诊断的糖尿病，并且 1 型糖尿病更常见于 6 至 24 个月之间，但在极少数情况下，NDM 可能在 12 甚至 24 个月时才出现。NDM 的分子诊断对于治疗计划和预测预后非常重要。因此，对这些患者进行基因检测至关重要。
