Molecular diagnosis of monogenic diabetes and clinical/laboratory features in Turkish children

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dc.authorid0000-0002-9809-0977en_US
dc.contributor.authorGökşen, Damla
dc.contributor.authorYeşilkaya, Ediz
dc.contributor.authorÖzen, Samim
dc.contributor.authorKor, Yılmaz
dc.contributor.authorEren, Erdal
dc.contributor.authorKorkmaz, Özlem
dc.contributor.authorÜnal, Edip
dc.date.accessioned2023-01-19T13:11:30Z
dc.date.available2023-01-19T13:11:30Z
dc.date.issued2021en_US
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_US
dc.description.abstractObjective: 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 GCK-MODY while less than 20% of cases were diagnosed with HNF1A-MODY.en_US
dc.identifier.citationGökşen, D., Yeşilkaya, E., Özen, S., Kor, Y., Eren, E., Korkmaz, Ö. ve diğerleri. (2021). Molecular diagnosis of monogenic diabetes and clinical/laboratory features in Turkish children. Journal of Clinical Research in Pediatric Endocrinology, 13(4), 433-438.en_US
dc.identifier.doi10.4274/jcrpe.galenos.2021.2021.0056en_US
dc.identifier.endpage438en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue4en_US
dc.identifier.pmid34250910en_US
dc.identifier.scopus2-s2.0-85122223970en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage433en_US
dc.identifier.trdizinid521211en_US
dc.identifier.urihttps://cms.galenos.com.tr/Uploads/Article_48056/JCRPE-13-433-En.pdf
dc.identifier.urihttps://hdl.handle.net/11468/11208
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/521211
dc.identifier.volume13en_US
dc.identifier.wosWOS:000734457400009
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.indekslendigikaynakTR-Dizin
dc.institutionauthorÜnal, Edip
dc.language.isoenen_US
dc.publisherGalenos Yayıncılıken_US
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectMonogenic diabetesen_US
dc.subjectEarly-onset diabetesen_US
dc.subjectNext-generation sequencingen_US
dc.subjectGCKen_US
dc.subjectHNF1Aen_US
dc.titleMolecular diagnosis of monogenic diabetes and clinical/laboratory features in Turkish childrenen_US
dc.typeArticleen_US

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