The first case of familial Mediterranean fever associated with renal amyloidosis in Korea
Kyo Yeon Koo ; Se Jin Park ; Jin-Sung Lee ; Beom Jin Lim ; Hyeon Joo Jeong ; Jae Il Shin ; Ji Young Wang
Yonsei Medical Journal, Vol.53(2) : 454~458, 2012
Yonsei Medical Journal
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.