摘要
如今,中东地区有超过三千二百万的糖尿病患者,预计到2040这个数字将翻一番。与欧洲和北美形成鲜明对比,尽管流行率很高在ME糖尿病方面,有关该地区糖尿病发病率和类型的流行病学数据非常有限。青少年的成熟型糖尿病(Mody)是一种代表单基因糖尿病的亚型。2-5%的糖尿病患者。本病为常染色体显性遗传模式,以35岁以下β细胞异常为特征。到目前为止,有15种不同的MODY表单已被确认;每一个都有不同的遗传病因。MODY在1型糖尿病和2型糖尿病之间被误诊是很常见的。因此,准确的基因诊断对于个体来说是至关重要的。e治疗及改善血糖控制。新技术,如下一代测序(NGS),为筛选和识别导致MODY突变提供了极好的选择。在这场革命中我们总结了每种MODY型的主要临床和遗传特征。此外,我们还阐明了在ME地区开展的MODY研究。
关键词: 青少年的成熟型糖尿病,中东地区的单基因糖尿病,常染色体显性模式,血糖,下一代测序。
Current Molecular Medicine
Title:Maturity-Onset Diabetes of the Young: An Overview with Focus on the Middle East
Volume: 17 Issue: 8
关键词: 青少年的成熟型糖尿病,中东地区的单基因糖尿病,常染色体显性模式,血糖,下一代测序。
摘要: Today, there are more than 32 million patients with diabetes in the Middle East (ME), the number is expected to double by 2040. In contrast to Europe and North America and despite the high prevalence of diabetes in ME, epidemiological data about incident and types of diabetes in the region is very limited.
Maturity-onset diabetes of the young (MODY) is a subtype of monogenic diabetes representing 2-5% of all diabetes patients. The disease is autosomal dominant mode of inheritance characterized by β-cell malfunction below the age of 35 years. To date, there are 15 different MODY forms that have been identified; each has a distinct genetic etiology.
It is very common that MODY is misdiagnosed between with type 1 or type 2 diabetes. Hence, accurate genetic diagnosis is crucial to individualize the treatment and to improve glycaemia control. New technologies such as next-generation sequencing (NGS) offer an excellent alternative to screen and identify causative MODY mutations. In this review, we summarize the main clinical and genetic characteristics for each MODY form. In addition, we shed light on MODY studies that have been executed in the ME region.
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Maturity-Onset Diabetes of the Young: An Overview with Focus on the Middle East, Current Molecular Medicine 2017; 17 (8) . https://dx.doi.org/10.2174/1566524018666180222121158
DOI https://dx.doi.org/10.2174/1566524018666180222121158 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
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