MODY2 diagnostic issues in adults

Approximately 90% of all cases of diabetes mellitus in adults involve type 2 diabetes, while the prevalence of maturity-onset diabetes of the young (MODY) remains undetermined leading to inappropriate treatment regimens. One of the most common monogenic forms of diabetes is a disease caused by a mut...

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Autores principales: Irina V. Kononenko, Anastasiya A. Glibka, Natalya A. Zubkova, Alexander Y. Mayorov, Anatoly N. Tyulpakov, Olga M. Schmidt
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Lenguaje:EN
RU
Publicado: Endocrinology Research Centre 2019
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Acceso en línea:https://doaj.org/article/687734329d874d88b6d54f1e843edee5
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spelling oai:doaj.org-article:687734329d874d88b6d54f1e843edee52021-11-14T09:00:22ZMODY2 diagnostic issues in adults2072-03512072-037810.14341/DM10063https://doaj.org/article/687734329d874d88b6d54f1e843edee52019-10-01T00:00:00Zhttps://www.dia-endojournals.ru/jour/article/view/10063https://doaj.org/toc/2072-0351https://doaj.org/toc/2072-0378Approximately 90% of all cases of diabetes mellitus in adults involve type 2 diabetes, while the prevalence of maturity-onset diabetes of the young (MODY) remains undetermined leading to inappropriate treatment regimens. One of the most common monogenic forms of diabetes is a disease caused by a mutation in the glucokinase gene, MODY2. Knowledge of the clinical features of the disease allows the selection of patients with a high risk of mutation in the glucokinase gene and verification of diagnosis for molecular genetic research. This paper reflects the clinical features of MODY2 and the difficulties of diagnosis in adults. Furthermore, it presents a clinical case of a patient with MODY2 demonstrating all the features of this type of diabetes. A family member with a mutation in the gene allows to predict the nature of carbohydrate metabolism disorders in first degree relatives. A targeted study of only one part of the glucokinase gene in molecular genetic research is sufficient to confirm the diagnosis in relatives.Irina V. KononenkoAnastasiya A. GlibkaNatalya A. ZubkovaAlexander Y. MayorovAnatoly N. TyulpakovOlga M. SchmidtEndocrinology Research Centrearticlediabetes mellitusgck genematurity-onset diabetes of the young (mody)mody2gestational diabetescase reportNutritional diseases. Deficiency diseasesRC620-627ENRUСахарный диабет, Vol 22, Iss 4, Pp 384-391 (2019)
institution DOAJ
collection DOAJ
language EN
RU
topic diabetes mellitus
gck gene
maturity-onset diabetes of the young (mody)
mody2
gestational diabetes
case report
Nutritional diseases. Deficiency diseases
RC620-627
spellingShingle diabetes mellitus
gck gene
maturity-onset diabetes of the young (mody)
mody2
gestational diabetes
case report
Nutritional diseases. Deficiency diseases
RC620-627
Irina V. Kononenko
Anastasiya A. Glibka
Natalya A. Zubkova
Alexander Y. Mayorov
Anatoly N. Tyulpakov
Olga M. Schmidt
MODY2 diagnostic issues in adults
description Approximately 90% of all cases of diabetes mellitus in adults involve type 2 diabetes, while the prevalence of maturity-onset diabetes of the young (MODY) remains undetermined leading to inappropriate treatment regimens. One of the most common monogenic forms of diabetes is a disease caused by a mutation in the glucokinase gene, MODY2. Knowledge of the clinical features of the disease allows the selection of patients with a high risk of mutation in the glucokinase gene and verification of diagnosis for molecular genetic research. This paper reflects the clinical features of MODY2 and the difficulties of diagnosis in adults. Furthermore, it presents a clinical case of a patient with MODY2 demonstrating all the features of this type of diabetes. A family member with a mutation in the gene allows to predict the nature of carbohydrate metabolism disorders in first degree relatives. A targeted study of only one part of the glucokinase gene in molecular genetic research is sufficient to confirm the diagnosis in relatives.
format article
author Irina V. Kononenko
Anastasiya A. Glibka
Natalya A. Zubkova
Alexander Y. Mayorov
Anatoly N. Tyulpakov
Olga M. Schmidt
author_facet Irina V. Kononenko
Anastasiya A. Glibka
Natalya A. Zubkova
Alexander Y. Mayorov
Anatoly N. Tyulpakov
Olga M. Schmidt
author_sort Irina V. Kononenko
title MODY2 diagnostic issues in adults
title_short MODY2 diagnostic issues in adults
title_full MODY2 diagnostic issues in adults
title_fullStr MODY2 diagnostic issues in adults
title_full_unstemmed MODY2 diagnostic issues in adults
title_sort mody2 diagnostic issues in adults
publisher Endocrinology Research Centre
publishDate 2019
url https://doaj.org/article/687734329d874d88b6d54f1e843edee5
work_keys_str_mv AT irinavkononenko mody2diagnosticissuesinadults
AT anastasiyaaglibka mody2diagnosticissuesinadults
AT natalyaazubkova mody2diagnosticissuesinadults
AT alexanderymayorov mody2diagnosticissuesinadults
AT anatolyntyulpakov mody2diagnosticissuesinadults
AT olgamschmidt mody2diagnosticissuesinadults
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