Characteristics of patients with diagnosis of maturity-onset diabetes of the young, according to the Russian diabetes registry
BACKGROUND: Molecular genetic testing (MGT) is increasingly accessible, improving diagnosis of monogenic diabetes (DM), particularly maturity-onset diabetes of the young (MODY). While most MODY research focuses on pediatric populations, diagnosis is possible after age 18. The Federal Diabetes Regist...
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Endocrinology Research Centre
2024-09-01
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| Series: | Сахарный диабет |
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| Online Access: | https://www.dia-endojournals.ru/jour/article/view/13100 |
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| author | N. V. Rusyaeva I. V. Kononenko O. K. Vikulova M. A. Isakov M. V. Shestakova N. G. Mokrysheva |
| author_facet | N. V. Rusyaeva I. V. Kononenko O. K. Vikulova M. A. Isakov M. V. Shestakova N. G. Mokrysheva |
| author_sort | N. V. Rusyaeva |
| collection | DOAJ |
| description | BACKGROUND: Molecular genetic testing (MGT) is increasingly accessible, improving diagnosis of monogenic diabetes (DM), particularly maturity-onset diabetes of the young (MODY). While most MODY research focuses on pediatric populations, diagnosis is possible after age 18. The Federal Diabetes Registry (FDR) offers unique insights into real-world management of MODY patients.AIM: To analyze the clinical features of DM onset, carbohydrate metabolism, complications, and hypoglycemic therapy (HT) in patients with the main types of MODY based on the FDR data.MATERIALS AND METHODS: A cross-sectional analysis of the FDR was conducted. All patients with registered MODY diagnoses (MODY-1, MODY-2, MODY-3, or other) as of June 1, 2023, were included. The specified MODY type was considered indicative of prior MGT. Direct MGT results are not recorded in the FDR.RESULTS: The study included 640 patients. MODY2 was the most prevalent type (69.4%), followed by MODY1 (18.2%) and MODY3 (12.4%). The median age of DM diagnosis was 19 years for MODY1, 10 years for MODY2, and 14 years for MODY3. The majority of patients (71.4%) were diagnosed with MODY before the age of 18 years.While 61% of MODY2 patients received monotherapy with diet, others received various ADT. Sulfonylureas were commonly prescribed for MODY3 patients (45.8%), and for a smaller portion of MODY1 patients (14.1%). Insulin therapy was more frequent in MODY1 and 3 (35.9% and 31.2%, respectively). The target glycated hemoglobin level was achieved in 82% of MODY2 patients and in 50.7% and 52.9% of MODY1 and 3 patients, respectively.Diabetic complications were observed in 6.04% of MODY2 patients, 23.0% of MODY1 patients, and 22.0% of MODY3 patients. Specific complications included diabetic retinopathy (5.75%, 1.21%, and 3.39% in MODY1, MODY2, and MODY3, respectively), diabetic nephropathy (10.3%, 2.11%, and 11.9%), and diabetic polyneuropathy (14.9%, 4.53%, and 15.3%).CONCLUSION: The FDR analysis revealed real-world practice patterns in MODY management, highlighting a lack of standardized treatment approaches and potentially unnecessary insulin use. These findings, coupled with an expected rise in MODY diagnoses, underscore the need for clinical guidelines for this population. |
| format | Article |
| id | doaj-art-d90fb4c7825c4c739a8a235ebe00e667 |
| institution | OA Journals |
| issn | 2072-0351 2072-0378 |
| language | English |
| publishDate | 2024-09-01 |
| publisher | Endocrinology Research Centre |
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| series | Сахарный диабет |
| spelling | doaj-art-d90fb4c7825c4c739a8a235ebe00e6672025-08-20T01:57:14ZengEndocrinology Research CentreСахарный диабет2072-03512072-03782024-09-0127432133510.14341/DM1310011100Characteristics of patients with diagnosis of maturity-onset diabetes of the young, according to the Russian diabetes registryN. V. Rusyaeva0I. V. Kononenko1O. K. Vikulova2M. A. Isakov3M. V. Shestakova4N. G. Mokrysheva5Endocrinology Research CentreEndocrinology Research CentreEndocrinology Research CentreEndocrinology Research CentreEndocrinology Research CentreEndocrinology Research CentreBACKGROUND: Molecular genetic testing (MGT) is increasingly accessible, improving diagnosis of monogenic diabetes (DM), particularly maturity-onset diabetes of the young (MODY). While most MODY research focuses on pediatric populations, diagnosis is possible after age 18. The Federal Diabetes Registry (FDR) offers unique insights into real-world management of MODY patients.AIM: To analyze the clinical features of DM onset, carbohydrate metabolism, complications, and hypoglycemic therapy (HT) in patients with the main types of MODY based on the FDR data.MATERIALS AND METHODS: A cross-sectional analysis of the FDR was conducted. All patients with registered MODY diagnoses (MODY-1, MODY-2, MODY-3, or other) as of June 1, 2023, were included. The specified MODY type was considered indicative of prior MGT. Direct MGT results are not recorded in the FDR.RESULTS: The study included 640 patients. MODY2 was the most prevalent type (69.4%), followed by MODY1 (18.2%) and MODY3 (12.4%). The median age of DM diagnosis was 19 years for MODY1, 10 years for MODY2, and 14 years for MODY3. The majority of patients (71.4%) were diagnosed with MODY before the age of 18 years.While 61% of MODY2 patients received monotherapy with diet, others received various ADT. Sulfonylureas were commonly prescribed for MODY3 patients (45.8%), and for a smaller portion of MODY1 patients (14.1%). Insulin therapy was more frequent in MODY1 and 3 (35.9% and 31.2%, respectively). The target glycated hemoglobin level was achieved in 82% of MODY2 patients and in 50.7% and 52.9% of MODY1 and 3 patients, respectively.Diabetic complications were observed in 6.04% of MODY2 patients, 23.0% of MODY1 patients, and 22.0% of MODY3 patients. Specific complications included diabetic retinopathy (5.75%, 1.21%, and 3.39% in MODY1, MODY2, and MODY3, respectively), diabetic nephropathy (10.3%, 2.11%, and 11.9%), and diabetic polyneuropathy (14.9%, 4.53%, and 15.3%).CONCLUSION: The FDR analysis revealed real-world practice patterns in MODY management, highlighting a lack of standardized treatment approaches and potentially unnecessary insulin use. These findings, coupled with an expected rise in MODY diagnoses, underscore the need for clinical guidelines for this population.https://www.dia-endojournals.ru/jour/article/view/13100diabetes mellitusmaturity-onset diabetes of the youngmodydiagnosisfederal diabetes registry |
| spellingShingle | N. V. Rusyaeva I. V. Kononenko O. K. Vikulova M. A. Isakov M. V. Shestakova N. G. Mokrysheva Characteristics of patients with diagnosis of maturity-onset diabetes of the young, according to the Russian diabetes registry Сахарный диабет diabetes mellitus maturity-onset diabetes of the young mody diagnosis federal diabetes registry |
| title | Characteristics of patients with diagnosis of maturity-onset diabetes of the young, according to the Russian diabetes registry |
| title_full | Characteristics of patients with diagnosis of maturity-onset diabetes of the young, according to the Russian diabetes registry |
| title_fullStr | Characteristics of patients with diagnosis of maturity-onset diabetes of the young, according to the Russian diabetes registry |
| title_full_unstemmed | Characteristics of patients with diagnosis of maturity-onset diabetes of the young, according to the Russian diabetes registry |
| title_short | Characteristics of patients with diagnosis of maturity-onset diabetes of the young, according to the Russian diabetes registry |
| title_sort | characteristics of patients with diagnosis of maturity onset diabetes of the young according to the russian diabetes registry |
| topic | diabetes mellitus maturity-onset diabetes of the young mody diagnosis federal diabetes registry |
| url | https://www.dia-endojournals.ru/jour/article/view/13100 |
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