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[Study of celiac disease in the pediatric population of Cantabria (Spain) and first-degree relatives].

Abstract

BACKGROUND

Celiac disease (CD) is an autoimmune disease that affects genetically predisposed individuals. The HLA-DQ2 heterodimer is present in nearly 90% of patients while HLA-DQ8 is found in the remaining 10%.

AIM

To study the characteristics of CD in pediatric patients in Cantabria and their first-degree relatives, with special emphasis on factors related to haplotype, serology, and forms of clinical presentation.

PATIENTS AND METHODS

Eighty-six patients with CD and 215 first-degree relatives were HLA genotyped. Clinical, laboratory, immunologic, and histological data were obtained from all patients.

RESULTS

Clinical presentation was classical in 95% of the patients and mono-symptomatic in the remaining 5%. Anti-gliadin antibodies (AGA) and anti-transglutaminase antibodies (ATGA) were positive in 95% of the patients and negative in 5% (all with IgA deficiency). DQ2 was found in 71% of the patients (homozygotes or heterozygotes) and DQ8 was found in 9.5%. No heterodimers of risk were found in 22%. CD was found in six relatives (three were positive for AGA and four were positive for ATGA). Forty-nine percent of the relatives carried the DQ2 heterodimer and 15% the DQ8 heterodimer; no heterodimers of risk were found in 40%.

CONCLUSIONS

The most prevalent HLA found in patients with CD in the autonomous region of Cantabria was DQ2 (71%). This prevalence is clearly lower than that reported in other Spanish regions. The prevalence of CD among first-degree relatives was similar to that found in other studies performed in Spain (2.8%). Our data support the need for systematic study of the first-degree relatives of patients with CD.

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  • Authors+Show Affiliations

    ,

    Sección de Gastroenterología Infantil. Hospital Universitario Marqués de Valdecilla. Santander. Cantabria. España. identresotos@yahoo.es

    , , , ,

    Source

    Gastroenterologia y hepatologia 31:2 2008 Feb pg 53-8

    MeSH

    Adolescent
    Adult
    Autoantibodies
    Celiac Disease
    Child
    Child, Preschool
    Dimerization
    Female
    Gene Frequency
    Genes, MHC Class II
    Genetic Predisposition to Disease
    Genotype
    Gliadin
    HLA-DQ Antigens
    Humans
    Infant
    Male
    Parents
    Protein Multimerization
    Retrospective Studies
    Siblings
    Spain
    Transglutaminases

    Pub Type(s)

    English Abstract
    Journal Article

    Language

    spa

    PubMed ID

    18279642

    Citation

    Díaz de Entresotos Villazán, Lucía, et al. "[Study of Celiac Disease in the Pediatric Population of Cantabria (Spain) and First-degree Relatives]." Gastroenterologia Y Hepatologia, vol. 31, no. 2, 2008, pp. 53-8.
    Díaz de Entresotos Villazán L, de la Rubia Fernández L, López Hoyos M, et al. [Study of celiac disease in the pediatric population of Cantabria (Spain) and first-degree relatives]. Gastroenterol Hepatol. 2008;31(2):53-8.
    Díaz de Entresotos Villazán, L., de la Rubia Fernández, L., López Hoyos, M., Ruiz de Alegría, C., Sánchez Velasco, P., & Fernández García, P. (2008). [Study of celiac disease in the pediatric population of Cantabria (Spain) and first-degree relatives]. Gastroenterologia Y Hepatologia, 31(2), pp. 53-8.
    Díaz de Entresotos Villazán L, et al. [Study of Celiac Disease in the Pediatric Population of Cantabria (Spain) and First-degree Relatives]. Gastroenterol Hepatol. 2008;31(2):53-8. PubMed PMID: 18279642.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - [Study of celiac disease in the pediatric population of Cantabria (Spain) and first-degree relatives]. AU - Díaz de Entresotos Villazán,Lucía, AU - de la Rubia Fernández,Luis, AU - López Hoyos,Marcos, AU - Ruiz de Alegría,Carlos, AU - Sánchez Velasco,Pablo, AU - Fernández García,Pedro, PY - 2008/2/19/pubmed PY - 2008/6/24/medline PY - 2008/2/19/entrez SP - 53 EP - 8 JF - Gastroenterologia y hepatologia JO - Gastroenterol Hepatol VL - 31 IS - 2 N2 - BACKGROUND: Celiac disease (CD) is an autoimmune disease that affects genetically predisposed individuals. The HLA-DQ2 heterodimer is present in nearly 90% of patients while HLA-DQ8 is found in the remaining 10%. AIM: To study the characteristics of CD in pediatric patients in Cantabria and their first-degree relatives, with special emphasis on factors related to haplotype, serology, and forms of clinical presentation. PATIENTS AND METHODS: Eighty-six patients with CD and 215 first-degree relatives were HLA genotyped. Clinical, laboratory, immunologic, and histological data were obtained from all patients. RESULTS: Clinical presentation was classical in 95% of the patients and mono-symptomatic in the remaining 5%. Anti-gliadin antibodies (AGA) and anti-transglutaminase antibodies (ATGA) were positive in 95% of the patients and negative in 5% (all with IgA deficiency). DQ2 was found in 71% of the patients (homozygotes or heterozygotes) and DQ8 was found in 9.5%. No heterodimers of risk were found in 22%. CD was found in six relatives (three were positive for AGA and four were positive for ATGA). Forty-nine percent of the relatives carried the DQ2 heterodimer and 15% the DQ8 heterodimer; no heterodimers of risk were found in 40%. CONCLUSIONS: The most prevalent HLA found in patients with CD in the autonomous region of Cantabria was DQ2 (71%). This prevalence is clearly lower than that reported in other Spanish regions. The prevalence of CD among first-degree relatives was similar to that found in other studies performed in Spain (2.8%). Our data support the need for systematic study of the first-degree relatives of patients with CD. SN - 0210-5705 UR - https://www.unboundmedicine.com/medline/citation/18279642/[Study_of_celiac_disease_in_the_pediatric_population_of_Cantabria__Spain__and_first_degree_relatives]_ L2 - http://www.elsevier.es/en/linksolver/ft/ivp/0210-5705/31/53 DB - PRIME DP - Unbound Medicine ER -