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

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.

journal_name

Yonsei Med J

journal_title

Yonsei medical journal

authors

Koo KY,Park SJ,Wang JY,Shin JI,Jeong HJ,Lim BJ,Lee JS

doi

10.3349/ymj.2012.53.2.454

subject

Has Abstract

pub_date

2012-03-01 00:00:00

pages

454-8

issue

2

eissn

0513-5796

issn

1976-2437

pii

201203454

journal_volume

53

pub_type

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