Abstract | INTRODUCTION: A clinical criterion of the Wolfram syndrome is the coexistence of diabetes and optic atrophy recognized before the age of 15. Diabetes present in Wolfram syndrome is a result of the selective β cell loss and failed insulin secretion which is probably associated with non-autoimmune pathogenesis. AIM OF THE STUDY: MATERIAL AND METHODS: RESULTS: In all nine patients the coexistence of diabetes with optic atrophy was observed and in 8/9 individuals additional symptoms were recognized. In patients with Wolfram syndrome a significantly lower age of diagnosis of diabetes (Me=5.0 years) than in type 1 diabetic children (Me=10.4; p=0.002) was observed. Studies of HLA subtypes demonstrated an increased prevalence of HLA-DQw1, DRB1⋅03 and/or 04 and DR2. A comparison of the frequency of the HLA alleles in patients with Wolfram syndrome with type 1 diabetic children showed a more frequent presence of the DRB1⋅1501 (p=0.03; OR=13.28 (2.44-72.12)) and DQB1⋅06 (p=0.016; OR=10.15 (2.49-41.35)) alleles in patients with Wolfram syndrome. CONCLUSIONS: Polish patients with Wolfram syndrome have a different profile of the HLA antigens with the presence of DR2, DQw1 and DRB3/4 allele and are negative for diabetes-related autoantibodies, which may confirm non-autoimmune β-cell destruction in this syndrome.
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Authors | Piotr Fichna, Bogda Skowrońska, Katarzyna Majewska, Witold Stankiewicz |
Journal | Pediatric endocrinology, diabetes, and metabolism
(Pediatr Endocrinol Diabetes Metab)
Vol. 16
Issue 4
Pg. 255-61
( 2010)
ISSN: 2081-237X [Print] Poland |
PMID | 21447266
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Autoantibodies
- HLA-DQ Antigens
- HLA-DR Antigens
- HLA-DR2 Antigen
- HLA-DRB1 Chains
- HLA-DRB3 Chains
- islet cell antibody
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Topics |
- Adolescent
- Autoantibodies
(immunology)
- Child
- Female
- Glucose Tolerance Test
- HLA-DQ Antigens
(immunology)
- HLA-DR Antigens
(immunology)
- HLA-DR2 Antigen
(immunology)
- HLA-DRB1 Chains
- HLA-DRB3 Chains
- Humans
- Insulin-Secreting Cells
(immunology)
- Male
- Obesity
(complications, metabolism)
- Wolfram Syndrome
(immunology)
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