Multidrug resistance 1 gene polymorphisms may determine Crohn's disease behavior in patients from Rio de Janeiro

OBJECTIVES: Conflicting data from studies on the potential role of multidrug resistance 1 gene polymorphisms in inflammatory bowel disease may result from the analysis of genetically and geographically distinct populations. Here, we investigated whether multidrug resistance 1 gene polymorphisms are associated with inflammatory bowel diseases in patients from Rio de Janeiro. METHODS: We analyzed 123 Crohn's disease patients and 83 ulcerative colitis patients to determine the presence of the multidrug resistance 1 gene polymorphisms C1236T, G2677T and C3435T. In particular, the genotype frequencies of Crohn's disease and ulcerative colitis patients were analyzed. Genotype-phenotype associations with major clinical characteristics were established, and estimated risks were calculated for the mutations. RESULTS: No significant difference was observed in the genotype frequencies of the multidrug resistance 1 G2677T/A and C3435T polymorphisms between Crohn's disease and ulcerative colitis patients. In contrast, the C1236T polymorphism was significantly more common in Crohn's disease than in ulcerative colitis (p = 0.047). A significant association was also found between the multidrug resistance 1 C3435T polymorphism and the stricturing form of Crohn's disease (OR: 4.13; p = 0.009), whereas no association was found with penetrating behavior (OR: 0.33; p = 0.094). In Crohn's disease, a positive association was also found between the C3435T polymorphism and corticosteroid resistance/refractoriness (OR: 4.14; p = 0.010). However, no significant association was found between multidrug resistance 1 gene polymorphisms and UC subphenotypic categories. CONCLUSION: The multidrug resistance 1 gene polymorphism C3435T is associated with the stricturing phenotype and an inappropriate response to therapy in Crohn's disease. This association with Crohn's disease may support additional pathogenic roles ...

Small intestinal morphology in dermatitis herpetiformis: experience of the Federal University of Rio de Janeiro, Brazil

FUNDAMENTOS - Dermatite herpetiforme (DH) é uma erupçäo crônica e papulovesicular com depósitos de IgA na pele. A maioria dos pacientes apresenta anormalidades da mucosa intestinal proximal, simulando enteropatia glúten-sensitiva comum. OBJETIVOS - Estudar as alteraçöes da mucosa jejunal associadas à DH. MÉTODOS - Foram estudadas, em 12 pacientes com DH, as alteraçöes da mucosa jejunal, pela análise histomorfométrica, incluíndo relaçäo vilosidade-cripta, celularidade da lâmina própria e contagem dos linfócitos intraepiteliais. RESULTADOS - Apenas 58 porcento dos pacientes apresentavam depósitos granulares de IgA na pele, em contraposiçäo aos 90 porcento relatados na literatura. Mucosa jejunal plana e aumento do número de células de lâmina própria estavam associados aos depósitos granulares de IgA na pele. O número de linfócitos intraepiteliais era normal. CONCLUSÄO - Biópsia jejunal deve ser realizada somente em pacientes com padräo cutâneo granular, que podem se beneficiar de uma dieta livre de glúten