Nkonge Ken Munene, Nkonge Dennis Karani, Nkonge Teresa Njeri
University of Nairobi, P.O. Box 30197, Nairobi, Kenya.
McMaster University, Hamilton, Ontario, L8S 4L8, Canada.
Clin Diabetes Endocrinol. 2020 Nov 4;6(1):20. doi: 10.1186/s40842-020-00112-5.
The most common type of monogenic diabetes is maturity-onset diabetes of the young (MODY), a clinically and genetically heterogeneous group of endocrine disorders that affect 1-5% of all patients with diabetes mellitus. MODY is characterized by autosomal dominant inheritance but de novo mutations have been reported. Clinical features of MODY include young-onset hyperglycemia, evidence of residual pancreatic function, and lack of beta cell autoimmunity or insulin resistance. Glucose-lowering medications are the main treatment options for MODY. The growing recognition of the clinical and public health significance of MODY by clinicians, researchers, and governments may lead to improved screening and diagnostic practices. Consequently, this review article aims to discuss the epidemiology, pathogenesis, diagnosis, and treatment of MODY based on relevant literature published from 1975 to 2020.
The estimated prevalence of MODY from European cohorts is 1 per 10,000 in adults and 1 per 23,000 in children. Since little is known about the prevalence of MODY in African, Asian, South American, and Middle Eastern populations, further research in non-European cohorts is needed to help elucidate MODY's exact prevalence. Currently, 14 distinct subtypes of MODY can be diagnosed through clinical assessment and genetic analysis. Various genetic mutations and disease mechanisms contribute to the pathogenesis of MODY. Management of MODY is subtype-specific and includes diet, oral antidiabetic drugs, or insulin.
Incidence and prevalence estimates for MODY are derived from epidemiologic studies of young people with diabetes who live in Europe, Australia, and North America. Mechanisms involved in the pathogenesis of MODY include defective transcriptional regulation, abnormal metabolic enzymes, protein misfolding, dysfunctional ion channels, or impaired signal transduction. Clinicians should understand the epidemiology and pathogenesis of MODY because such knowledge is crucial for accurate diagnosis, individualized patient management, and screening of family members.
单基因糖尿病最常见的类型是青年发病的成年型糖尿病（MODY），这是一组临床和遗传异质性的内分泌疾病，在所有糖尿病患者中占1%至5%。MODY的特征是常染色体显性遗传，但也有新发突变的报道。MODY的临床特征包括青年期高血糖、胰腺仍有残余功能的证据，以及缺乏β细胞自身免疫或胰岛素抵抗。降糖药物是MODY的主要治疗选择。临床医生、研究人员和政府对MODY临床和公共卫生意义的认识不断提高，可能会改进筛查和诊断方法。因此，本文献综述旨在根据1975年至2020年发表的相关文献，讨论MODY的流行病学、发病机制、诊断和治疗。
欧洲队列研究估计，成人中MODY的患病率为万分之一，儿童中为两万三千分之一。由于对非洲、亚洲、南美和中东人群中MODY的患病率了解甚少，因此需要在非欧洲队列中进行进一步研究，以帮助阐明MODY的确切患病率。目前，通过临床评估和基因分析可诊断出14种不同的MODY亚型。各种基因突变和疾病机制导致了MODY的发病。MODY的管理是亚型特异性的，包括饮食、口服降糖药或胰岛素。
MODY的发病率和患病率估计来自对欧洲、澳大利亚和北美的糖尿病青年人群的流行病学研究。MODY发病机制涉及的机制包括转录调控缺陷、代谢酶异常、蛋白质错误折叠、离子通道功能障碍或信号转导受损。临床医生应了解MODY的流行病学和发病机制，因为这些知识对于准确诊断、个体化患者管理以及家庭成员筛查至关重要。
