The first case of familial Mediterranean fever associated with renal amyloidosis in Korea.
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.
Department of Clinical Genetics,Yonsei University College of Medicine, Seoul. Korea.
Kyo Yeon
KY
Koo
Se Jin
SJ
Park
Ji Young
JY
Wang
Jae Il
JI
Shin
Hyeon Joo
HJ
Jeong
Beom Jin
BJ
Lim
Jin-Sung
JS
Lee
D000686:Amyloidosis / Q000175:diagnosis*; D002648:Child; D010505:Familial Mediterranean Fever / Q000175:diagnosis*; D006801:Humans; D007674:Kidney Diseases / Q000175:diagnosis*; D007723:Korea; D008297:Male