dc.contributor.author | Şıklar, Z | |
dc.contributor.author | de Franco, E | |
dc.contributor.author | Johnson, MB | |
dc.contributor.author | Flanagan, SE | |
dc.contributor.author | Ellard, S | |
dc.contributor.author | Ceylaner, S | |
dc.contributor.author | Boztuğ, K | |
dc.contributor.author | Doğu, F | |
dc.contributor.author | İkincioğulları, A | |
dc.contributor.author | Kuloğlu, Z | |
dc.contributor.author | Kansu, A | |
dc.contributor.author | Berberoğlu, M | |
dc.date.accessioned | 2018-04-06T10:30:25Z | |
dc.date.issued | 2017-11-28 | |
dc.description.abstract | Monogenic diabetes represents a heterogeneous group of disorders resulting from a single gene defect leading to disruption of insulin secretion or a reduction in the number of beta cells. Despite the classification of monogenic diabetes into neonatal diabetes or maturity onset diabetes of the young (MODY) according to age of onset, not every case can be classified into those 2 groups. We evaluated patients with monogenic diabetes diagnosed during the last 10 year period. Type 1 DM, MODY, and patients with negative autoantibodies and no mutation in a known gene were excluded from the study. Thirteen patients were diagnosed with monogenic diabetes in Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey. Five of them were diagnosed after 6 months of age. Five had a KATP channel defect. Mutations in genes resulting in destruction of beta cells were detected in 7 patients, with 4 cases having aWFS, 2 anLRBA, and one aIL2RAmutation. Additional systemic findings were seen in 6/13 patients, with 5/6 having severe immune system dysfunction. Treatment with sulphonylurea was successful in two patients.. The other patients were given insulin in differing doses. Four patients died during follow-up, three of which had immune system dysfunction. Monogenic diabetes can be diagnosed after 6 months of age, even with positive autoantibodies. Immune dysfunction was a common feature in our cohort and should be investigated in all patients with early-onset monogenic diabetes. Mortality of patients with monogenic diabetes and additional autoimmunity was high in our cohort and is likely to reflect the multisystem nature of these diseases. | en_GB |
dc.description.sponsorship | The genetic testing performed in Exeter was funded by the Wellcome Trust via a Senior Investigator Award to Prof Sian Ellard and Prof Andrew Hattersley. SEF has a Sir Henry Dale Fellowship jointly funded by the Wellcome Trust and the Royal Society (Grant Number: 105636/Z/14/Z). SE is a Wellcome Trust Senior Investigator. | en_GB |
dc.identifier.citation | Published online 28 November 2017 | en_GB |
dc.identifier.doi | 10.1055/s-0043-120571 | |
dc.identifier.uri | http://hdl.handle.net/10871/32347 | |
dc.language.iso | en | en_GB |
dc.publisher | Thieme Publishing | en_GB |
dc.relation.url | https://www.ncbi.nlm.nih.gov/pubmed/29183106 | en_GB |
dc.rights.embargoreason | Under embargo until 28 November 2018 in compliance with publisher policy | en_GB |
dc.rights | © 2017 Georg Thieme Verlag KG | en_GB |
dc.subject | Monogenic diabetes | en_GB |
dc.subject | childhood | en_GB |
dc.subject | LRBA | en_GB |
dc.subject | Il2RA | en_GB |
dc.subject | WFS1 | en_GB |
dc.title | Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes | en_GB |
dc.type | Article | en_GB |
exeter.place-of-publication | Germany | en_GB |
dc.description | This is the author accepted manuscript. The final version is available from Thieme Publishing via the DOI in this record | en_GB |
dc.identifier.journal | Experimental and Clinical Endocrinology and Diabetes | en_GB |