单基因糖尿病:诊断和精确治疗的最新进展:叙述性回顾

IF 1.9 Q2 MEDICINE, GENERAL & INTERNAL
K. Jang
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引用次数: 0

摘要

单基因糖尿病通常是由单基因突变引起的。在所有糖尿病病例中,这种疾病的发病率从1%到5%不等,受行为和环境的影响较小。新生儿糖尿病(NDM)和青年期成熟期糖尿病(MODY)在单基因糖尿病中占主要比例,而综合征型糖尿病占较小比例。随着基因组测序技术的显著进步,单基因糖尿病的诊断已经从基于临床表型发展到分子遗传学。单基因糖尿病的精确用药是基于基因检测;因此,准确的诊断是至关重要的。由于基本的临床标准(诊断为<6个月大),NDM的基因检测和精确治疗快速而简单。开发了MODY概率计算器;然而,由于缺乏单一的诊断标准和基因检测,将MODY与1型和2型糖尿病区分开来仍然具有挑战性。此外,这些基因检测结果的高成本和复杂解释增加了这些挑战。这篇综述将讨论有助于预测和治疗单基因糖尿病临床表型的不同病因和亚组。此外,我们将回顾韩国最近的研究,并提出优先进行基因检测的患者筛查方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Monogenic diabetes: recent updates on diagnosis and precision treatment: A narrative review
Monogenic diabetes is commonly caused by single-gene mutations. This disease ranges from 1% to 5% in all cases of diabetes and is less affected by behavior and environment. Neonatal diabetes mellitus (NDM) and maturity-onset diabetes of the young (MODY) account for a major proportion of monogenic diabetes, while syndromic diabetes constitutes a smaller proportion. Diagnosis of monogenic diabetes has improved from being based on clinical phenotypes to molecular genetics, with significant advancement of genome sequencing skills. Precise medication for monogenic diabetes is based on genetic testing; therefore, an accurate diagnosis is essential. Due to the basic clinical criteria (diagnosed < 6 months of age), genetic testing and precision treatment for NDM are fast and uncomplicated. The MODY probability calculator was developed; however, it remains challenging to distinguish MODY from type 1 and 2 diabetes due to the lack of a single diagnostic criteria and genetic testing. Additionally, the high cost and complicated interpretation of these genetic test results add to these challenges. This review will discuss the distinct etiology and subgroups that contribute to predicting and treating clinical phenotypes associated with monogenic diabetes. Furthermore, we will review the recent Korean studies and suggest methods of prioritizing patient screening for genetic testing.
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来源期刊
Precision and Future Medicine
Precision and Future Medicine MEDICINE, GENERAL & INTERNAL-
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审稿时长
10 weeks
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