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eISSN: 2083-8441
ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
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SCImago Journal & Country Rank
3/2016
vol. 22
 
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abstract:
Original paper

Humoral response markers in GCK MODY

Eliza Skała-Zamorowska
,
Grażyna Deja
,
Maciej Borowiec
,
Wojciech Fendler
,
Beata Małachowska
,
Halla Kamińska
,
Krystyna Wyka
,
Wojciech Młynarski
,
Przemysława Jarosz-Chobot

Online publish date: 2017/06/18
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  Background. The prevalence of antibodies to pancreatic islets in monogenic diabetes remains unknown and the incidence estimation is difficult as the occurrence of autoantibodies in patient is one of the well-known exclusion criteria for further genetic diagnostics. They has been found not only among patients with type 1 diabetes, but also in other types of diabetes: Type 2 diabetes, Latent Autoimmune Diabetes in Adults (LADA) (16) and monogenic diabetes (MD). Aim. Immunological characteristic of GCK MODY patients. Methods. The study group included families of 27 adolescent patients with GCK MODY (39 parents and 19 siblings) monitored in the Department of Pediatrics, Endocrinology and Diabetes and in the Diabetes Clinic of John Paul II Upper Silesian Child Health Centre in Katowice in the years 2007-2012. All patients and family members with GCK MODY underwent a blood sample drawing for immunological (classic humoral response markers: ICA, GAD, IA-2, IAA) and biochemical diagnostics. Pediatric, diabetes and family medical history was collected from the subjects and parents. Results. Immunological diagnostics was performed in all patients except 1 (96.3%). Immunological diagnostics included 17 (89.5%) parents and 7 (87.5%) siblings with diagnosed GCK MODY. 8 (30.8%) adolescent patients with GCK MODY, 3 subjects (17.64%) among parents (with GCK MODY), as well as 2 subjects (28.57%) among siblings (with GCK MODY) showed a positive antibodies screen. Conclusion. The results of our study in children with GCK MODY and their family members suggest that the occurrence of classic antibodies directed against pancreatic islets antigens is fairly common in patients with GCK MODY. Despite various observations and many legitimate discussions, it is difficult to clarify the pathogenesis of the occurrence of autoantibodies in monogenic diabetes.
keywords:

GCK MODY, autoantibodies, monogenic diabetes, GAD, ICA, IAA, IA2


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