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.
