MODY2 diagnostic issues in adults
| Autor: | Anastasiya A. Glibka, Irina Vladimirovna Kononenko, Alexander Yur'evich Mayorov, Anatoly N. Tyulpakov, Olga M. Schmidt, Natalya A. Zubkova |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
maturity-onset diabetes of the young (mody)
RC620-627 Glucokinase business.industry Endocrinology Diabetes and Metabolism Disease Type 2 diabetes medicine.disease Bioinformatics Gestational diabetes mody2 Endocrinology gck gene Diabetes mellitus Mutation (genetic algorithm) Carbohydrate Metabolism Disorder diabetes mellitus Internal Medicine medicine case report First-degree relatives gestational diabetes business Nutritional diseases. Deficiency diseases |
| Zdroj: | Сахарный диабет, Vol 22, Iss 4, Pp 384-391 (2019) |
| ISSN: | 2072-0378 2072-0351 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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