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- W2022367366 abstract "La fiebre mediterránea familiar (FMF) es un síndrome hereditario de fiebre periódica caracterizada por ataques cortos de fiebre e inflamación multisistémica (poliserositis y sinovitis, principalmente). El desarrollo de amiloidosis, sobre todo renal, es la principal complicación. Los síntomas aparecen, en la mayoría de casos, antes de la segunda década de vida. Se trata de una enfermedad hereditaria monogénica y el gen asociado se llama MEFV . El diagnóstico genético puede ser de gran ayuda, aunque existen aspectos que todavía no están claros. En un porcentaje muy pequeño de pacientes, la enfermedad aparece de una forma atípica, es decir, más tardía e iniciando con amiloidosis, sin existir antecedente de ataques previos inflamatorios o fiebres periódicas. Es el fenotipo II de la FMF. Presentamos el caso de un varón de 24 años con amiloidosis renal que cumple estas características, donde el estudio genético resultó clave para el diagnóstico. Familial Mediterranean Fever is a periodic hereditary fever syndrome characterised by short fever attacks and multisystemic inflammation (mainly polyserositis and synovitis). The main complication is development of amyloidosis, particularly renal. In the majority of cases, symptoms appear before the age of twenty. It is a monogenic hereditary disease that is related to the MEFV gene. A genetic diagnosis may be helpful, although there are some aspects that are still not clear enough. A small percentage of patients present an atypical form, appearing later and debuting with amyloidosis but without any previous inflammatory attacks or periodic fevers. This form is Familial Mediterranean Fever phenotype II. We present the case of a 24 year-old with renal amyloidosis that presents these characteristics and in whom the genetic study was fundamental for the diagnosis." @default.
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- W2022367366 date "2009-10-01" @default.
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- W2022367366 title "Presentación atípica de un caso de fiebre mediterránea familiar" @default.
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- W2022367366 doi "https://doi.org/10.1016/j.labcli.2009.06.005" @default.
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