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      Role of HLA-DQ typing and antitissue transglutaminase antibody titres in diagnosing coeliac disease among Sudanese children with type 1 diabetes mellitus

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          Abstract

          Objective

          The aim of the study was to determine the prevalence of coeliac disease (CD) and to recognise Human leukocyte antigen (HLA)-associated hereditary susceptibility to Sudanese CD patients with type 1 diabetes mellitus (DM1).

          Design

          Antitissue transglutaminase IgA (anti-TG IgA) was measured in the serum of 373 children affected with DM1 aged 1–19-year old and in 100 serum samples from non-diabetic control children. Histological examination was performed in 19 children seropositive for anti-TG IgA (17 DMI and 2 controls). Additionally, PCR-based analysis of Major histocompatibility complex, class II, DQ beta 1 (HLA-DQB1) genotyping was implemented in three study population groups as follows: group 1 (n=25) (+ve DM1 and +ve CD), group 2 (n=63) (-ve DM1 and +ve CD) and control group 3 (n=2) (+ve CD).

          Results

          Twenty-six Sudanese children with DM1 out of 373 (6.97%) were seropositive for anti-TG IgA. Duodenal biopsy revealed Marsh 2 and 3 in 13 out of 17 (76.47%) seropositive anti-TG IgA patients with DM1. Significant association (p<0.05) was detected between the level of anti-TG IgA autoantibodies (IU/mL) and Marsh stage. HLA DQ2 and DQ8 were found in 88% (22/25) and 8% (2/25) of examined patients with CD with DM1, respectively.

          Conclusions

          Anti-TG IgA titre of greater than 10 times upper limit of normal (≥10× ULN) can be useful for detecting CD in children with type 1 diabetes without duodenal biopsy. HLA testing in children with DM1 appears to provide little added benefit given the high prevalence (96%) of HLA DQ2/DQ8 in children with DM1.

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          Most cited references33

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          Molecular Cloning : A Laboratory Manual

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            The histopathology of coeliac disease: time for a standardized report scheme for pathologists.

            In this paper, we review the histological features of coeliac disease and propose a standardized report scheme based on the Marsh classification. Furthermore, terms used by pathologists are defined. The most important histological differential diagnoses are given, as well as a definition of the different clinical forms of coeliac disease such as symptomatic, silent, latent, potential, treated and refractory coeliac disease.
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              European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of coeliac disease.

              Diagnostic criteria for coeliac disease (CD) from the European Society for Paediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) were published in 1990. Since then, the autoantigen in CD, tissue transglutaminase, has been identified; the perception of CD has changed from that of a rather uncommon enteropathy to a common multiorgan disease strongly dependent on the haplotypes human leukocyte antigen (HLA)-DQ2 and HLA-DQ8; and CD-specific antibody tests have improved. A panel of 17 experts defined CD and developed new diagnostic criteria based on the Delphi process. Two groups of patients were defined with different diagnostic approaches to diagnose CD: children with symptoms suggestive of CD (group 1) and asymptomatic children at increased risk for CD (group 2). The 2004 National Institutes of Health/Agency for Healthcare Research and Quality report and a systematic literature search on antibody tests for CD in paediatric patients covering the years 2004 to 2009 was the basis for the evidence-based recommendations on CD-specific antibody testing. In group 1, the diagnosis of CD is based on symptoms, positive serology, and histology that is consistent with CD. If immunoglobulin A anti-tissue transglutaminase type 2 antibody titers are high (>10 times the upper limit of normal), then the option is to diagnose CD without duodenal biopsies by applying a strict protocol with further laboratory tests. In group 2, the diagnosis of CD is based on positive serology and histology. HLA-DQ2 and HLA-DQ8 testing is valuable because CD is unlikely if both haplotypes are negative. The aim of the new guidelines was to achieve a high diagnostic accuracy and to reduce the burden for patients and their families. The performance of these guidelines in clinical practice should be evaluated prospectively.
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                Author and article information

                Journal
                BMJ Open Gastroenterol
                BMJ Open Gastroenterol
                bmjgast
                bmjgast
                BMJ Open Gastroenterology
                BMJ Publishing Group (BMA House, Tavistock Square, London, WC1H 9JR )
                2054-4774
                2022
                24 January 2022
                : 9
                : 1
                : e000735
                Affiliations
                [1 ]Department of Microbiology, Central laboratory, Ministry of Higher Education and Scientific Research , Khartoum, Sudan
                [2 ]Coeliac Disease Research Center, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland , Tampere, Finland
                [3 ]departmentDepartment of Internal Medicine , Tampere University Hospital , Tampere, Finland
                [4 ]Al Nileen Medical School, Al Nileen University , Khartoum, Sudan
                [5 ]departmentDepartment of Gastroentrology and Liver Diseases , Gafaar Ibn Oaf Specialized Children Hospital , Khartoum, Sudan
                [6 ]departmentDepartment of Medical Laboratory Technology , College of Applied Medical Sciences, Taibah University , Medina, Saudi Arabia
                [7 ]Department of Statistics and Documentation, Central Laboratory, Ministry of Higher Education and Scientific Research , Khartoum, Sudan
                [8 ]Faculty of Pharmacy, The National Ribat University, Khartoum, Sudan , Khartoum, Sudan
                [9 ]Deparment of Virology, Central Laboratory, Ministry of Higher Education and Scientific Research , Khartoum, Sudan
                [10 ]departmentTranslational Immunology Research Program, Department of Clinical and Medical Genetics , University of Helsinki , Helsinki, Finland
                Author notes
                [Correspondence to ] Dr Ibtihag Ibaid; ibtihag2003@ 123456yahoo.com
                Author information
                http://orcid.org/0000-0002-6661-2988
                http://orcid.org/0000-0003-0102-3338
                Article
                bmjgast-2021-000735
                10.1136/bmjgast-2021-000735
                8788197
                35074908
                8b72598d-7a95-41dc-b3fc-ef52a7f4d98a
                © Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

                This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

                History
                : 04 July 2021
                : 30 November 2021
                Funding
                Funded by: Central Laboratory, Ministry of Higher Education and Scientific Research;
                Award ID: 2007/152
                Categories
                Coeliac Disease
                1506
                Custom metadata
                unlocked

                celiac disease,paediatric gastroenterology,nutrition

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