Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom; Clinical Islet Transplant Program, University of Alberta, Edmonton, Alberta, Canada.
Can J Diabetes. 2016 Oct;40(5):449-454. doi: 10.1016/j.jcjd.2016.03.002. Epub 2016 Apr 26.
Maturity onset diabetes of the young (MODY) is a rare but increasingly recognized cause of diabetes in young people. It is a monogenic disorder that typically presents at <25 years of age, is non-insulin dependent and is familial, with an autosomal dominant pattern of inheritance. The most common forms of MODY are caused by mutations in glucokinase and hepatic nuclear factor 1 alpha or 4 alpha genes and account for almost 80% of cases of MODY. MODY is commonly misdiagnosed as type 1 or type 2 diabetes and, as a result, patients are often inappropriately managed with insulin when they can be more effectively managed with oral sulfonylureas. Therefore, making the right diagnosis is critical for effective treatment as well as for genetic counselling and, more important, for patients' quality of life. In this review, we aim to raise awareness about MODY among diabetes clinicians by describing key clinical and laboratory features of the most common forms of MODY, outlining features that might help to differentiate MODY from type 1 and type 2 diabetes and providing information about clinical tests and tools that might assist in identifying patients who are most likely to benefit from molecular genetic testing.
青少年发病的成年型糖尿病（MODY）是一种罕见但越来越被认识的青年人群糖尿病病因。它是一种单基因疾病，通常在<25 岁时发病，非胰岛素依赖型，呈常染色体显性遗传模式。MODY 的最常见形式是由葡萄糖激酶和肝核因子 1α或 4α基因突变引起，占 MODY 病例的近 80%。MODY 常被误诊为 1 型或 2 型糖尿病，因此，当患者可以更有效地用磺酰脲类药物治疗时，他们经常被不适当地用胰岛素治疗。因此，正确的诊断对于有效治疗以及遗传咨询至关重要，更重要的是，对于患者的生活质量。在这篇综述中，我们旨在通过描述最常见形式的 MODY 的关键临床和实验室特征，概述有助于将 MODY 与 1 型和 2 型糖尿病区分开的特征，并提供有关临床测试和工具的信息，以帮助确定最有可能从分子遗传学测试中获益的患者，从而提高糖尿病临床医生对 MODY 的认识。
