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The Epidemiology and Genetic Analysis of Children With Idiopathic Type 1 Diabetes in the State of Qatar
CONTEXT: Idiopathic type 1 diabetes is characterized by the absence of autoantibodies and the underlying mechanisms are not clear. OBJECTIVE: We aimed to study the epidemiology, describe the clinical characteristics, and report results of genetic studies in pediatric patients with idiopathic type 1...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8389171/ https://www.ncbi.nlm.nih.gov/pubmed/34458657 http://dx.doi.org/10.1210/jendso/bvab131 |
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author | Abdel-Karim, Tasneem Haris, Basma Afyouni, Houda Mohammed, Shayma Khalifa, Amel Al-Maadheed, Maryam Zyoud, Mahmoud Elawwa, Ahmed Al-Khalaf, Fawziya Petrovski, Goran Hussain, Khalid |
author_facet | Abdel-Karim, Tasneem Haris, Basma Afyouni, Houda Mohammed, Shayma Khalifa, Amel Al-Maadheed, Maryam Zyoud, Mahmoud Elawwa, Ahmed Al-Khalaf, Fawziya Petrovski, Goran Hussain, Khalid |
author_sort | Abdel-Karim, Tasneem |
collection | PubMed |
description | CONTEXT: Idiopathic type 1 diabetes is characterized by the absence of autoantibodies and the underlying mechanisms are not clear. OBJECTIVE: We aimed to study the epidemiology, describe the clinical characteristics, and report results of genetic studies in pediatric patients with idiopathic type 1 diabetes. METHODS: This was a prospective study of type 1 diabetes patients attending Sidra Medicine from 2018 to 2020. Autoantibodies (GAD65, IAA, IA-2A, and ZnT8) were measured and genetic testing was undertaken in patients negative for autoantibodies to rule out monogenic diabetes. Demographic and clinical data of patients with idiopathic type 1 diabetes were compared with patients with autoimmune type 1 diabetes. RESULTS: Of 1157 patients with type 1 diabetes, 63 were antibody-negative. Upon genome sequencing, 4 had maturity onset diabetes of the young (MODY), 2 had Wolfram syndrome, 1 had H syndrome, and 3 had variants of uncertain significance in MODY genes; 53 patients had idiopathic type 1 diabetes. The most common age of diagnosis was 10 to 14 years. C-peptide level was low but detectable in 30 patients (56.6%) and normal in 23 patients (43.4%) The average body mass index was in the normal range and 33% of the patients had a history of diabetic ketoacidosis (DKA). CONCLUSION: Four percent of the children had idiopathic type 1 diabetes. There were statistically significant differences in the C-peptide level and insulin requirement between the 2 groups. DKA was less common in the idiopathic group. Mutations in MODY genes suggest the importance of autoantibody testing and genetic screening for known causes of monogenic diabetes in idiopathic type 1 diabetes. The mechanism of idiopathic type 1 diabetes is unknown but could be due to defects in antibody production or due to autoantibodies that are not yet detectable or discovered. |
format | Online Article Text |
id | pubmed-8389171 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-83891712021-08-27 The Epidemiology and Genetic Analysis of Children With Idiopathic Type 1 Diabetes in the State of Qatar Abdel-Karim, Tasneem Haris, Basma Afyouni, Houda Mohammed, Shayma Khalifa, Amel Al-Maadheed, Maryam Zyoud, Mahmoud Elawwa, Ahmed Al-Khalaf, Fawziya Petrovski, Goran Hussain, Khalid J Endocr Soc Clinical Research Article CONTEXT: Idiopathic type 1 diabetes is characterized by the absence of autoantibodies and the underlying mechanisms are not clear. OBJECTIVE: We aimed to study the epidemiology, describe the clinical characteristics, and report results of genetic studies in pediatric patients with idiopathic type 1 diabetes. METHODS: This was a prospective study of type 1 diabetes patients attending Sidra Medicine from 2018 to 2020. Autoantibodies (GAD65, IAA, IA-2A, and ZnT8) were measured and genetic testing was undertaken in patients negative for autoantibodies to rule out monogenic diabetes. Demographic and clinical data of patients with idiopathic type 1 diabetes were compared with patients with autoimmune type 1 diabetes. RESULTS: Of 1157 patients with type 1 diabetes, 63 were antibody-negative. Upon genome sequencing, 4 had maturity onset diabetes of the young (MODY), 2 had Wolfram syndrome, 1 had H syndrome, and 3 had variants of uncertain significance in MODY genes; 53 patients had idiopathic type 1 diabetes. The most common age of diagnosis was 10 to 14 years. C-peptide level was low but detectable in 30 patients (56.6%) and normal in 23 patients (43.4%) The average body mass index was in the normal range and 33% of the patients had a history of diabetic ketoacidosis (DKA). CONCLUSION: Four percent of the children had idiopathic type 1 diabetes. There were statistically significant differences in the C-peptide level and insulin requirement between the 2 groups. DKA was less common in the idiopathic group. Mutations in MODY genes suggest the importance of autoantibody testing and genetic screening for known causes of monogenic diabetes in idiopathic type 1 diabetes. The mechanism of idiopathic type 1 diabetes is unknown but could be due to defects in antibody production or due to autoantibodies that are not yet detectable or discovered. Oxford University Press 2021-07-29 /pmc/articles/PMC8389171/ /pubmed/34458657 http://dx.doi.org/10.1210/jendso/bvab131 Text en © The Author(s) 2021. Published by Oxford University Press on behalf of the Endocrine Society. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Clinical Research Article Abdel-Karim, Tasneem Haris, Basma Afyouni, Houda Mohammed, Shayma Khalifa, Amel Al-Maadheed, Maryam Zyoud, Mahmoud Elawwa, Ahmed Al-Khalaf, Fawziya Petrovski, Goran Hussain, Khalid The Epidemiology and Genetic Analysis of Children With Idiopathic Type 1 Diabetes in the State of Qatar |
title | The Epidemiology and Genetic Analysis of Children With Idiopathic Type 1 Diabetes in the State of Qatar |
title_full | The Epidemiology and Genetic Analysis of Children With Idiopathic Type 1 Diabetes in the State of Qatar |
title_fullStr | The Epidemiology and Genetic Analysis of Children With Idiopathic Type 1 Diabetes in the State of Qatar |
title_full_unstemmed | The Epidemiology and Genetic Analysis of Children With Idiopathic Type 1 Diabetes in the State of Qatar |
title_short | The Epidemiology and Genetic Analysis of Children With Idiopathic Type 1 Diabetes in the State of Qatar |
title_sort | epidemiology and genetic analysis of children with idiopathic type 1 diabetes in the state of qatar |
topic | Clinical Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8389171/ https://www.ncbi.nlm.nih.gov/pubmed/34458657 http://dx.doi.org/10.1210/jendso/bvab131 |
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