■单基因糖尿病通常是单基因突变的结果。这种疾病受环境和行为因素的影响最小,它约占所有糖尿病病例的1%到5%。
■新生儿糖尿病(NDM)和青少年成熟型糖尿病(MODY)是单基因糖尿病的主要原因,占更大比例的案件,而综合征型糖尿病的比例较小。MODY,一组遗传性非自身免疫性糖尿病疾病,很常见。然而,尽管公众意识不断提高,但它仍然经常被误诊。这种情况的特征是胰岛素抵抗,糖尿病在年轻时(25岁之前)的发展,轻度高血糖,以常染色体显性遗传模式,以及天然胰岛素生产的保存。
■目前,已鉴定出14种不同的MODY亚型。每个亚型在频率方面都有不同的特征,临床症状,糖尿病的严重程度,相关并发症,以及对药物干预的反应。由于临床上的相似性,缺乏意识,和昂贵的基因检测费用,区分I型糖尿病(T1D)和II型糖尿病(T2D)可能具有挑战性,导致这种类型的糖尿病的误诊。因此,相当多的人被剥夺了足够的医疗照顾。与II型和I型糖尿病相比,准确的诊断可以利用新的治疗策略并增强治疗管理。
■本文对单基因糖尿病的临床亚型和特征进行了简要概述。此外,本文讨论了MODY的各种亚型,以及诊断的过程,管理,并治疗病情。它还解决了检测和治疗MODY时遇到的困难。
UNASSIGNED: Monogenic diabetes often occurs as a result of single-gene mutations. The illness is minimally affected by environmental and behavioral factors, and it constitutes around one to five percent of all cases of diabetes.
UNASSIGNED: Newborn diabetes mellitus (NDM) and maturity-onset diabetes of the young (MODY) are the predominant causes of monogenic diabetes, accounting for a larger proportion of cases, while syndromic diabetes represents a smaller percentage. MODY, a group of inherited non-autoimmune diabetes mellitus disorders, is quite common. However, it remains frequently misdiagnosed despite increasing public awareness. The condition is characterized by insulin resistance, the development of diabetes at a young age (before 25 years), mild high blood sugar levels, inheritance in an autosomal dominant pattern, and the preservation of natural insulin production.
UNASSIGNED: Currently, there are 14 distinct subtypes of MODY that have been identified. Each subtype possesses distinct characteristics in terms of their frequency, clinical symptoms, severity of diabetes, related complications, and response to medicinal interventions. Due to the clinical similarities, lack of awareness, and high expense of genetic testing, distinguishing between type I (T1D) and type II diabetes mellitus (T2D) can be challenging, resulting in misdiagnosis of this type of diabetes. As a consequence, a significant number of individuals are being deprived of adequate medical attention. Accurate diagnosis enables the utilization of novel therapeutic strategies and enhances the management of therapy in comparison to type II and type I diabetes.
UNASSIGNED: This article offers a concise overview of the clinical subtypes and characteristics of monogenic diabetes. Furthermore, this article discusses the various subtypes of MODY, as well as the process of diagnosing, managing, and treating the condition. It also addresses the difficulties encountered in detecting and treating MODY.