Familial Mediterranean fever presenting as fever of unknown origin in Korea / 소아과
Korean Journal of Pediatrics
;
: S53-S56, 2016.
Artículo
en Inglés
| WPRIM
| ID: wpr-201862
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fiebre Mediterránea Familiar
/
Peritonitis
/
Serositis
/
Colchicina
/
Tamizaje Masivo
/
Exones
/
Diagnóstico
/
Fiebre
/
Fiebre de Origen Desconocido
/
Genotipo
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Korean Journal of Pediatrics
Año:
2016
Tipo del documento:
Artículo
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