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 i...
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Galenos Yayincilik
2021
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oai:doaj.org-article:d246cab85ec94663b4edadd4a7d453872021-11-26T06:10:16ZMolecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children1308-57271308-573510.4274/jcrpe.galenos.2021.2021.0056https://doaj.org/article/d246cab85ec94663b4edadd4a7d453872021-12-01T00:00:00Z http://www.jcrpe.org/archives/archive-detail/article-preview/molecular-diagnosis-of-monogenic-diabetes-and-clin/48056 https://doaj.org/toc/1308-5727https://doaj.org/toc/1308-5735Objective: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.Damla GökşenEdiz YeşilkayaSamim ÖzenYılmaz KorErdal ErenÖzlem KorkmazMerih BerberoğluGülay KaragüzelEren ErAyhan AbacıOlcay EvliyaoğluEmine Demet AkbaşEdip ÜnalSemih BoluÖzlem NalbantoğluAhmet AnıkMeltem TayfunMuammer BüyükinanSaygın AbalıGülay Can YılmazDeniz KörElif SöbüZeynep ŞıklarRecep PolatŞükran DarcanGalenos Yayincilikarticlemonogenic diabetesearly-onset diabetesnext-generation sequencinggckhnf1aPediatricsRJ1-570Diseases of the endocrine glands. Clinical endocrinologyRC648-665ENJCRPE, Vol 13, Iss 4, Pp 433-438 (2021) |
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monogenic diabetes early-onset diabetes next-generation sequencing gck hnf1a Pediatrics RJ1-570 Diseases of the endocrine glands. Clinical endocrinology RC648-665 |
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monogenic diabetes early-onset diabetes next-generation sequencing gck hnf1a Pediatrics RJ1-570 Diseases of the endocrine glands. Clinical endocrinology RC648-665 Damla Gökşen Ediz Yeşilkaya Samim Özen Yılmaz Kor Erdal Eren Özlem Korkmaz Merih Berberoğlu Gülay Karagüzel Eren Er Ayhan Abacı Olcay Evliyaoğlu Emine Demet Akbaş Edip Ünal Semih Bolu Özlem Nalbantoğlu Ahmet Anık Meltem Tayfun Muammer Büyükinan Saygın Abalı Gülay Can Yılmaz Deniz Kör Elif Söbü Zeynep Şıklar Recep Polat Şükran Darcan Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children |
| 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 |
article |
| author |
Damla Gökşen Ediz Yeşilkaya Samim Özen Yılmaz Kor Erdal Eren Özlem Korkmaz Merih Berberoğlu Gülay Karagüzel Eren Er Ayhan Abacı Olcay Evliyaoğlu Emine Demet Akbaş Edip Ünal Semih Bolu Özlem Nalbantoğlu Ahmet Anık Meltem Tayfun Muammer Büyükinan Saygın Abalı Gülay Can Yılmaz Deniz Kör Elif Söbü Zeynep Şıklar Recep Polat Şükran Darcan |
| author_facet |
Damla Gökşen Ediz Yeşilkaya Samim Özen Yılmaz Kor Erdal Eren Özlem Korkmaz Merih Berberoğlu Gülay Karagüzel Eren Er Ayhan Abacı Olcay Evliyaoğlu Emine Demet Akbaş Edip Ünal Semih Bolu Özlem Nalbantoğlu Ahmet Anık Meltem Tayfun Muammer Büyükinan Saygın Abalı Gülay Can Yılmaz Deniz Kör Elif Söbü Zeynep Şıklar Recep Polat Şükran Darcan |
| author_sort |
Damla Gökşen |
| title |
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_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_sort |
molecular diagnosis of monogenic diabetes and clinical/laboratory features in turkish children |
| publisher |
Galenos Yayincilik |
| publishDate |
2021 |
| url |
https://doaj.org/article/d246cab85ec94663b4edadd4a7d45387 |
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