Serologic and Genetic Markers of Celiac Disease: A Sequential Study in the Screening of First Degree Relatives
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Le résumé fourni par la source
OBJECTIVES: The prevalence of celiac disease (CD) among the relatives and the complications of an undiagnosed CD prompted us to identify a useful disease screening strategy. METHODS: We studied 441 first degree relatives of 208 CD patients by immunoglobulin (Ig)A antiendomysium antibodies (EMA) and radioimmunoprecipitation assay (RIA) IgA antitransglutaminase autoantibodies (TGAA). Of these, 364 were typed for human leukocyte antigen-DRB1, -DQA1, and -DQB1 genes by the polymerase chain reaction sequence specific primers method. It was suggested to the autoantibody-positive subjects that they should undergo intestinal biopsy. RESULTS: TGAA were positive in 46 of 439 relatives, EMA in 38; intestinal lesions related to CD were present in 40 subjects. We also found two immunodeficient fathers with duodenal villous atrophy. In three serology-positive subjects, permission for intestinal biopsy was refused; for another three serology-positive cases, duodenal mucosa was normal. Thus, the strict CD prevalence resulted 9.5%, the enlarged prevalence 10.9%. The DQ2/DQ8 heterodimers were carried in 231 of 364 subjects and in 38 of 40 biopsy-proven celiac patients. Three DQ2-positive parents became positive to the serology during a long-lasting follow-up. CONCLUSIONS: On the basis of a carefully conducted study, CD prevalence in our series was seen as very high. These data suggest an accurate algorithm to select candidates for intestinal biopsy among CD high-risk subjects. First, an evaluation of the sensitive RIA TGAA and of total IgA (in IgA deficiency RIA IgG anti-tissue transglutaminase assay) should be performed. Then, an evaluation of the TGAA and the genetic study would be advisable 2 to 3 years later in negative subjects. Those carrying the DQ2/DQ8 heterodimers should continue the serologic follow-up; the others need a clinical follow-up.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Serologic and Genetic Markers of Celiac Disease: A Sequential Study in the Screening of First Degree Relatives
- Date Crossref
- 01/02/2006
- Éditeur
- Wiley
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Sapienza University of Rome pays non établi dans la noticeUniversité ou école supérieure
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University of Milan pays non établi dans la noticeUniversité ou école supérieure
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Ospedale Maggiore pays non établi dans la noticeÉtablissement de santé
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Departments of Pediatrics University of Rome “La Sapienza pays non établi dans la noticeUniversité ou école supérieure
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University of Rome La Sapienza Department of Pediatrics pays non établi dans la noticeUniversité ou école supérieure
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Departments of Clinical Sciences University of Rome “La Sapienza pays non établi dans la noticeUniversité ou école supérieure
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Departments of Experimental Medicine and Pathology University of Rome “La Sapienza pays non établi dans la noticeUniversité ou école supérieure
Sapienza University of Rome, University of Milan et Ospedale Maggiore, avec 4 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.