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

Authors
 Kyo Yeon Koo  ;  Se Jin Park  ;  Jin-Sung Lee  ;  Beom Jin Lim  ;  Hyeon Joo Jeong  ;  Jae Il Shin  ;  Ji Young Wang 
Citation
 Yonsei Medical Journal, Vol.53(2) : 454-458, 2012 
Journal Title
 Yonsei Medical Journal 
ISSN
 0513-5796 
Issue Date
2012
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.
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/92136
DOI
10.3349/ymj.2012.53.2.454
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Clinical Genetics (임상유전학과)
Yonsei Authors
구교연(Goo, Kyo Yeon) ; 박세진(Park, Se Jin) ; 신재일(Shin, Jae Il) ; 이진성(Lee, Jin Sung) ; 임범진(Lim, Beom Jin) ; 정현주(Jeong, Hyeon Joo)
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