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The first case of familial Mediterranean fever associated with renal amyloidosis in Korea

Authors
Koo, KY; Park, SJ; Wang, JY; Shin, JI; Jeong, HJ; Lim, BJ; Lee, JS
Citation
Yonsei medical journal, 53(2):454-458, 2012
Journal Title
Yonsei medical journal
ISSN
0513-57961976-2437
Abstract
Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by periodic episodes of fever and recurrent polyserositis. It is caused by a dysfunction of pyrin (or marenostrin) as a result of a mutation within the MEFV gene. It occurs mostly in individuals of Mediterranean origin; however, it has also been reported in non-Mediterranean populations. In this report, we describe the first case of FMF in a Korean child. As eight-year-old boy presented recurrent febrile attacks from an unknown cause, an acute scrotum and renal amyloidosis. He also showed splenomegaly, lymphadenopathy, pleural effusion, ascites and elevated acute phase reactants. After MEFV gene analysis, he was diagnosed as FMF combined with amyloidosis.
MeSH terms
Amyloidosis/*diagnosisChildFamilial Mediterranean Fever/*diagnosisHumansKidney Diseases/*diagnosisKoreaMale
DOI
10.3349/ymj.2012.53.2.454
PMID
22318840
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
AJOU Authors
박, 세진
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