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 s...

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Bibliographic Details
Main Author: Kocova M
Format: Article
Language:English
Published: Sciendo 2021-03-01
Series:Balkan Journal of Medical Genetics
Subjects:
Online Access:https://doi.org/10.2478/bjmg-2020-0027
Description
Summary: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.
ISSN:1311-0160