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Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children
OBJECTIVE: Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638634/ https://www.ncbi.nlm.nih.gov/pubmed/34250910 http://dx.doi.org/10.4274/jcrpe.galenos.2021.2021.0056 |
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author | Gökşen, Damla Yeşilkaya, Ediz Özen, Samim Kor, Yılmaz Eren, Erdal Korkmaz, Özlem Berberoğlu, Merih Karagüzel, Gülay Er, Eren Abacı, Ayhan Evliyaoğlu, Olcay Akbaş, Emine Demet Ünal, Edip Bolu, Semih Nalbantoğlu, Özlem Anık, Ahmet Tayfun, Meltem Büyükinan, Muammer Abalı, Saygın Can Yılmaz, Gülay Kör, Deniz Söbü, Elif Şıklar, Zeynep Polat, Recep Darcan, Şükran |
author_facet | Gökşen, Damla Yeşilkaya, Ediz Özen, Samim Kor, Yılmaz Eren, Erdal Korkmaz, Özlem Berberoğlu, Merih Karagüzel, Gülay Er, Eren Abacı, Ayhan Evliyaoğlu, Olcay Akbaş, Emine Demet Ünal, Edip Bolu, Semih Nalbantoğlu, Özlem Anık, Ahmet Tayfun, Meltem Büyükinan, Muammer Abalı, Saygın Can Yılmaz, Gülay Kör, Deniz Söbü, Elif Şıklar, Zeynep Polat, Recep Darcan, Şükran |
author_sort | Gökşen, Damla |
collection | PubMed |
description | OBJECTIVE: Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood in Turkey. METHODS: Patients aged 0-18 years, who were molecularly diagnosed with monogenic diabetes, and consented to participate, were included in the study. RESULTS: Seventy-seven (45.6%) female and 92 male cases with a mean age of 8.18±5.05 years at diagnosis were included. 52.7% of the cases were diagnosed with monogenic diabetes by random blood glucose measurement. The reason for genetic analysis in 95 (56.2%) of cases was having a family member diagnosed with diabetes under the age of 25. At the time of diagnosis, ketone was detected in urine in 16.6% of the cases. Mean hemoglobin A1c on admission, fasting blood glucose, fasting insulin, and c-peptide values were 7.3±2.1%, 184.9±128.9 mg/dL, 9.4±22.9 IU/L, 1.36±1.1 and ng/L respectively. GCK-MODY was found in 100 (59.2%), HNF1A-MODY in 31 (18.3%), and variants in ABCC8 in 6 (3.6%), KCNJ11 in 5 (3%), HNF4A in 2 (1.2%), and HNF1B in 2 (1.2%). CONCLUSION: Recent studies have indicated HNF1A-MODY is the most frequent of all the MODY-monogenic diabetes cases in the literature (50%), while GCK-MODY is the second most frequent (32%). In contrast to these reports, in our study, the most common form was GCKMODY while less than 20% of cases were diagnosed with HNF1A-MODY. |
format | Online Article Text |
id | pubmed-8638634 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Galenos Publishing |
record_format | MEDLINE/PubMed |
spelling | pubmed-86386342021-12-13 Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children Gökşen, Damla Yeşilkaya, Ediz Özen, Samim Kor, Yılmaz Eren, Erdal Korkmaz, Özlem Berberoğlu, Merih Karagüzel, Gülay Er, Eren Abacı, Ayhan Evliyaoğlu, Olcay Akbaş, Emine Demet Ünal, Edip Bolu, Semih Nalbantoğlu, Özlem Anık, Ahmet Tayfun, Meltem Büyükinan, Muammer Abalı, Saygın Can Yılmaz, Gülay Kör, Deniz Söbü, Elif Şıklar, Zeynep Polat, Recep Darcan, Şükran J Clin Res Pediatr Endocrinol Original Article OBJECTIVE: Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood in Turkey. METHODS: Patients aged 0-18 years, who were molecularly diagnosed with monogenic diabetes, and consented to participate, were included in the study. RESULTS: Seventy-seven (45.6%) female and 92 male cases with a mean age of 8.18±5.05 years at diagnosis were included. 52.7% of the cases were diagnosed with monogenic diabetes by random blood glucose measurement. The reason for genetic analysis in 95 (56.2%) of cases was having a family member diagnosed with diabetes under the age of 25. At the time of diagnosis, ketone was detected in urine in 16.6% of the cases. Mean hemoglobin A1c on admission, fasting blood glucose, fasting insulin, and c-peptide values were 7.3±2.1%, 184.9±128.9 mg/dL, 9.4±22.9 IU/L, 1.36±1.1 and ng/L respectively. GCK-MODY was found in 100 (59.2%), HNF1A-MODY in 31 (18.3%), and variants in ABCC8 in 6 (3.6%), KCNJ11 in 5 (3%), HNF4A in 2 (1.2%), and HNF1B in 2 (1.2%). CONCLUSION: Recent studies have indicated HNF1A-MODY is the most frequent of all the MODY-monogenic diabetes cases in the literature (50%), while GCK-MODY is the second most frequent (32%). In contrast to these reports, in our study, the most common form was GCKMODY while less than 20% of cases were diagnosed with HNF1A-MODY. Galenos Publishing 2021-12 2021-11-25 /pmc/articles/PMC8638634/ /pubmed/34250910 http://dx.doi.org/10.4274/jcrpe.galenos.2021.2021.0056 Text en ©Copyright 2021 by Turkish Pediatric Endocrinology and Diabetes Society | The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Article Gökşen, Damla Yeşilkaya, Ediz Özen, Samim Kor, Yılmaz Eren, Erdal Korkmaz, Özlem Berberoğlu, Merih Karagüzel, Gülay Er, Eren Abacı, Ayhan Evliyaoğlu, Olcay Akbaş, Emine Demet Ünal, Edip Bolu, Semih Nalbantoğlu, Özlem Anık, Ahmet Tayfun, Meltem Büyükinan, Muammer Abalı, Saygın Can Yılmaz, Gülay Kör, Deniz Söbü, Elif Şıklar, Zeynep Polat, Recep Darcan, Şükran Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children |
title | Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children |
title_full | Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children |
title_fullStr | Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children |
title_full_unstemmed | Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children |
title_short | Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children |
title_sort | molecular diagnosis of monogenic diabetes and clinical/laboratory features in turkish children |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638634/ https://www.ncbi.nlm.nih.gov/pubmed/34250910 http://dx.doi.org/10.4274/jcrpe.galenos.2021.2021.0056 |
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