Celiac disease diagnosis : transglutaminase, duodenal biopsy and genetic tests correlations
Pena Schesquini-Roriz, Katia Regina (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Fraga Rodríguez, Gloria María (Institut de Recerca Sant Pau)
Castellanos, J.C.B. (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Martinez-Martinez, Laura (Institut de Recerca Sant Pau)
Boronat, Susana (Institut de Recerca Sant Pau)
Rodrigo Gonzalo de Líria, Carlos (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Badell Serra, Isabel (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Universitat Autònoma de Barcelona

Data:	2024
Resum:	Introduction: Celiac disease (CD) is an autoimmune enteropathy triggered by gluten ingestion in genetically susceptible individuals. The haplotypes HLA-DQ2 and DQ8, transglutaminase (TGA) antibodies, and biopsy findings are the main tests performed in the evaluation and CD diagnosis. The objective was to establish possible correlations between transglutaminase levels, genetic markers tests, and qualitative intestinal biopsy findings (modified Marsh classification) at the diagnosis. Methods: A retrospective cohort study. The selection criteria were confirmed CD cases with genetic tests performed. Statistical analysis was done mainly through One-way ANOVA, Kendall's correlation coefficient (T), and linear regression. Results: The study included 112 patients, with a mean age of 6 ± 4 years. All cases were tested to HLA-DQ2, and it was positive in 93%. HLA-DQ8 was tested in 73% of cases and it was positive in 61%. The percentage of negative genetic markers (DQ2/DQ8) was 4. 5% for patients tested to both haplotypes. A comparison of DQ2/DQ8 (positive and negative) with clinical findings and tests performed did not identify any differences for most of the parameters analyzed. Cases of type I diabetes presented significant negative expression for DQ2(-); p = 0. 05 and positive expression for DQ8(+); p = 0. 023. The TGA antibody levels ranged from 18 to 36,745 U/ml. An inverse correlation was found between age and TGA-L level (p = 0. 043). In 23% of the cases, the TGA levels were greater than 1,000 U/ml and presented a moderate positive correlation with the atrophy biopsy profile (T = 0. 245). Patients with an atrophic biopsy profile (Marsh III) had a moderate positive correlation with growth failure (T = 0. 218) but a negative correlation with constipation (T = -0. 277). Conclusion: In terms of diagnosis tests for CD, transglutaminase levels and age presented an inverse correlation, with the level decreasing as age increased. A moderately positive correlation was found between mean transglutaminase with intestinal atrophy and growth retardation. The genetic test DQ2 was positive for 93% and negative genetic markers (DQ2/DQ8) represented 4. 5% of cases studied.
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Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	HLA-DQ antigens ; Celiac disease ; Diagnosis ; Uodenal biopsies ; Transglutaminase (TGA)
Publicat a:	Frontiers in Pediatrics, Vol. 12 (2024) , p. 1330511, ISSN 2296-2360

DOI: 10.3389/fped.2024.1330511
PMID: 39268360

9 p, 13.6 MB

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Documents de recerca > Documents dels grups de recerca de la UAB > Centres i grups de recerca (producció científica) > Ciències de la salut i biociències > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP)
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