Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620571
Title:
Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes.
Authors:
Şıklar, Z.; de Franco, E.; Johnson, M. B.; Flanagan, S. E.; Ellard, Sian ( 0000-0002-7620-5526 ) ; Ceylaner, S.; Boztuğ, K.; Doğu, F.; İkincioğulları, A.; Kuloğlu, Z.; Kansu, A.; Berberoğlu, M.
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 a WFS, 2 an LRBA, and one a IL2RA mutation. 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.
Citation:
Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes. 2017 Exp. Clin. Endocrinol. Diabetes
Publisher:
Thieme
Journal:
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association
Issue Date:
28-Nov-2017
URI:
http://hdl.handle.net/11287/620571
DOI:
10.1055/s-0043-120571
PubMed ID:
29183106
Additional Links:
http://www.thieme-connect.com/DOI/DOI?10.1055/s-0043-120571
Type:
Journal Article
Language:
en
ISSN:
1439-3646
Appears in Collections:
Molecular Genetics; 2017 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorŞıklar, Z.en
dc.contributor.authorde Franco, E.en
dc.contributor.authorJohnson, M. B.en
dc.contributor.authorFlanagan, S. E.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorCeylaner, S.en
dc.contributor.authorBoztuğ, K.en
dc.contributor.authorDoğu, F.en
dc.contributor.authorİkincioğulları, A.en
dc.contributor.authorKuloğlu, Z.en
dc.contributor.authorKansu, A.en
dc.contributor.authorBerberoğlu, M.en
dc.date.accessioned2017-12-18T14:36:12Z-
dc.date.available2017-12-18T14:36:12Z-
dc.date.issued2017-11-28-
dc.identifier.citationMonogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes. 2017 Exp. Clin. Endocrinol. Diabetesen
dc.identifier.issn1439-3646-
dc.identifier.pmid29183106-
dc.identifier.doi10.1055/s-0043-120571-
dc.identifier.urihttp://hdl.handle.net/11287/620571-
dc.description.abstractMonogenic 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 a WFS, 2 an LRBA, and one a IL2RA mutation. 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
dc.language.isoenen
dc.publisherThiemeen
dc.relation.urlhttp://www.thieme-connect.com/DOI/DOI?10.1055/s-0043-120571en
dc.rightsArchived with thanks to Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Associationen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleMonogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes.en
dc.typeJournal Articleen
dc.identifier.journalExperimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Associationen
dc.type.versionIn press (epub ahead of print)en

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