PDF(Pubmed)
Abstract：
Background Neonatal diabetes mellitus is a rare form of monogenic diabetes which is diagnosed in the first six months of life. It is often related to genetic mutations; hence, genetic testing is warranted. Here, we present six cases of pancreatic agenesis resulting in neonatal diabetes with PTF1A gene mutation. Methodology This retrospective case series study included six pediatric cases of neonatal diabetes mellitus who are currently following at pediatric endocrinology clinics at King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Results The study reported six patients with a mean age of eight years who presented with pancreatic agenesis resulting in neonatal diabetes with PTF1A gene mutation. In four patients, there was no evidence of cerebellar agenesis. Conclusions Neonatal diabetes is a challenging disease that must be diagnosed early to prevent subsequent metabolic complications. Genetic testing is recommended in neonates who present with prolonged duration of hyperglycemia. Insulin replacement is the treatment of choice.
摘要：
背景新生儿糖尿病是一种罕见的单基因糖尿病，在生命的前六个月被诊断出来。它通常与基因突变有关；因此，基因检测是必要的。这里,我们介绍了6例胰腺发育不全导致PTF1A基因突变的新生儿糖尿病。方法这项回顾性病例系列研究包括6例新生儿糖尿病儿科病例，目前正在费萨尔国王专科医院和研究中心的儿科内分泌科诊所随访，利雅得,沙特阿拉伯。结果该研究报告了6例平均年龄为8岁的患者，其胰腺发育不全导致PTF1A基因突变的新生儿糖尿病。在四名患者中，没有小脑发育不全的证据.结论新生儿糖尿病是一种具有挑战性的疾病，必须早期诊断以预防随后的代谢并发症。建议在出现高血糖持续时间延长的新生儿中进行基因检测。胰岛素替代是治疗的选择。
