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Archivos de Medicina Interna

Print version ISSN 0250-3816On-line version ISSN 1688-423X

Abstract

DE ARMAS, Fabiana et al. Family Mediterranean Fever - case description. Arch. Med Int [online]. 2013, vol.35, n.3, pp.101-104. ISSN 0250-3816.

ABSTRACT: Arch Med Interna 2013 - 35(3):101-104 Familial Mediterranean fever is an autosomal recessive disease caused by mutations in the gene MEFV, which encodes a protein called pirin. This protein is involved in the formation of stimulating inflamasome activation of IL-1β through activation of caspase-1. This protein would have an inhibitory effect on activation of IL-1β, so loss of function mutations cause an up-regulation of the inflammatory response. It is part of the hereditary periodic fever syndromes which characterized by recurrent episodes of fever, polyserositis, synovitis, and cutaneous manifestations. It is more common in certain ethnic groups such as this case, which is presented because of the difficulty in its diagnosis. It is the opinion of the authors that this disease is underdiagnosed in Uruguay.

Keywords : familial mediterranean fever; hereditary autoinflammatory diseases.

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