Context: The celiac disease is an immune-mediated enteropathy caused by a permanent sensitivity to gluten in genetically susceptible individuals. Despite the genetic characteristic of the disease, studies show discrepancy of 30% in its presentation in monozygotic twins.
Objective: To present two pairs of monozygotic confirmed by genetic study and discordant for presentation of celiac disease.
Methods: The patients were followed up at the Pediatric Gastroenterology Service - Hospital das Clínicas da Universidade Federal de Minas Gerais, MG, Brazil, since 1990, and were submitted to periodical clinical examinations, intestinal biopsies and serology for IgA and IgG antigliadin antibodies, determined by the ELISA technique, and IgA antiendomysial, determined by indirect immunofluorescence. Genetic study was conducted by the technique of amplification by PCR and later typing loci of microsatellites type of STR (short tandem repeats).
Results: In each pair of twins only one has presented celiac disease so far, demonstrating that despite the identical genotype, it was not the single determinant to express the condition.
Conclusion: Other environmental and genetic factors might contribute to determining the disease.
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