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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Endocrinology Research Centre
2019
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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) |
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diabetes mellitus gck gene maturity-onset diabetes of the young (mody) mody2 gestational diabetes case report Nutritional diseases. Deficiency diseases RC620-627 |
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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 |
_version_ |
1718429534528733184 |