Familial Mediterranean fever presenting as fever of unknown origin in Korea / 소아과
Korean Journal of Pediatrics
; : S53-S56, 2016.
Article
em En
| WPRIM
| ID: wpr-201862
Biblioteca responsável:
WPRO
ABSTRACT
Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent brief fever and polyserositis (e.g., peritonitis, pleuritic, and arthritis). FMF is caused by autosomal recessive mutations of the Mediterranean fever gene, MEFV which encodes the pyrin protein. Although FMF predominantly affects people from Mediterranean and Middle Eastern ethnic origins, 3 cases of FMF have been reported in Korea since 2012. We report another case of FMF in Korea in which the patient presented with a month-long fever without serositis. After treatment with colchicine was initiated, the patient’s symptoms quickly subsided. The response to colchicine was helpful for diagnosis. We compare the FMF genotypes in Korea with in other countries. Studying FMF cases in Korea will help establish the best MEFV exons to use for screening and diagnosis of Korean FMF.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Febre Familiar do Mediterrâneo
/
Peritonite
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Serosite
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Colchicina
/
Programas de Rastreamento
/
Éxons
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Diagnóstico
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Febre
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Febre de Causa Desconhecida
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Genótipo
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Korean Journal of Pediatrics
Ano de publicação:
2016
Tipo de documento:
Article