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Genetic spectrum of neonatal diabetes

Authors
  • Kocova, M1
  • 1 Medical Faculty, University Cyril and Methodius, Republic of Macedonia , (Macedonia)
Type
Published Article
Journal
Balkan Journal of Medical Genetics
Publisher
De Gruyter Open Sp. z o.o.
Publication Date
Mar 23, 2021
Volume
23
Issue
2
Pages
5–15
Identifiers
DOI: 10.2478/bjmg-2020-0027
Source
De Gruyter
Keywords
License
Green

Abstract

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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