背景:新生儿糖尿病(NDM)的特征是严重的高血糖,通常在一个人生命的头几个月被诊断出来。它是一种遗传性疾病,是单基因糖尿病的主要形式之一。不同基因的变化已经与NDM相关,包括PDX1基因的变化。
方法:在这篇综述中,我们打算总结文献中报道的所有由PDX1突变引起的新生儿糖尿病病例.为此,我们搜索了PubMed文献中的关键词和HGMD数据库引用的文章。搜索检索到84篇文章,其中41人的全文被访问。应用研究排除标准后,包括9篇文章。
结果:在这些文章中,我们检测到13例与PDX1变化相关的NDM;大多数在纯合或复合杂合患者中。直到现在,PDX1基因的变异是NDM的罕见原因;然而,很少有研究将该基因的筛查纳入新生儿糖尿病的研究。
结论:在这篇综述中,我们强调了PDX1基因包含在NGS基因组中对NDM分子诊断的重要性,当存在NDM时,胰腺的系统形态学和功能检查。
BACKGROUND: Neonatal diabetes mellitus (NDM) is characterized by severe hyperglycemia, usually diagnosed in the first few months of an individual\'s life. It is a genetic disease and one of the main forms of monogenic diabetes. Changes in different genes have already been associated with NDM, including changes in the gene PDX1.
METHODS: In this review, we intend to summarize all neonatal diabetes cases caused by PDX1 mutations reported in the literature. For this purpose, we searched keywords in the literature from PubMed and articles cited by the HGMD database. The search retrieved 84 articles, of which 41 had their full text accessed. After applying the study exclusion criteria, nine articles were included.
RESULTS: Of those articles, we detected thirteen cases of NDM associated with changes in PDX1; the majority in homozygous or compound heterozygous patients. Until now, variants in the PDX1 gene have been a rare cause of NDM; however, few studies have included the screening of this gene in the investigation of neonatal diabetes.
CONCLUSIONS: In this review, we reinforce the importance of the PDX1 gene inclusion in genetic NGS panels for molecular diagnosis of NDM, and systematic morphological and functional exams of the pancreas when NDM is present.