新生儿糖尿病基因谱。

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY Balkan Journal of Medical Genetics Pub Date : 2021-03-23 eCollection Date: 2020-11-01 DOI:10.2478/bjmg-2020-0027
M Kocova
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引用次数: 0

摘要

新生儿糖尿病(ND)出现在婴儿出生后的头几个月,由单一基因突变引起。与其他形式的多因素或多基因糖尿病相比,它具有异质性和很大的不同。临床上,这种病症极为严重,然而,早期基因诊断是成功治疗的关键。大量基因被证实是 ND 的病因之一,但永久性高血糖的机制却各不相同。本综述将概述导致 ND 的较常见基因突变,包括突变基因的功能和针对某些亚型的特定疗法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Genetic Spectrum of Neonatal Diabetes.

Neonatal diabetes (ND) appears during the first months of life and is caused by a single gene mutation. It is heterogenous and very different compared to other forms of multi-factorial or polygenic diabetes. Clinically, this form is extremely severe, however, early genetic diagnosis is pivotal for successful therapy. A large palette of genes is demonstrated to be a cause of ND, however, the mechanisms of permanent hyperglycemia are different. This review will give an overview of more frequent genetic mutations causing ND, including the function of the mutated genes and the specific therapy for certain sub-forms.

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来源期刊
CiteScore
1.00
自引率
0.00%
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0
审稿时长
>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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