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Revista Cubana de Pediatría
versão impressa ISSN 0034-7531
Resumo
PURON BARRERAS, José et al. Report of a second congenital chloride diarrhea case in Cuba. Rev Cubana Pediatr [online]. 2014, vol.86, n.3, pp. 376-380. ISSN 0034-7531.
Congenital chloride diarrhea is a rare autosomal recessive disorder caused by a defective exchange of chloride and bicarbonate in the ileum and the colon. This article reported the case of one-year old child with pathognomonic characteristics of this disease including prenatal history of polyhydramnios, watery diarrheas since birth, low weight gain, metabolic alkalosis and dehydration. The diagnosis was confirmed on the basis of the high contents of chloride in stools. He is the second case of this disease reported in the Cuban literature.
Palavras-chave : congenital chloride diarrhea; watery diarrhea; metabolic alkalosis.