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

Authors
 구교연 ; 박세진 ; 신재일 ; 이진성 ; 임범진 ; 정현주 
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
http://ir.ymlib.yonsei.ac.kr/handle/22282913/92136
DOI
10.3349/ymj.2012.53.2.454
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Pathology
1. 연구논문 > 1. College of Medicine > Dept. of Pediatrics
1. 연구논문 > 1. College of Medicine > Dept. of Clinical Genetics
Yonsei Authors
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