Open AccessThe First Case of Familial Mediterranean Fever Associated with Renal Amyloidosis in Korea
Author(s) -
Kyo Yeon Koo,
Se Jin Park,
Ji Young Wang,
Jae Il Shin,
Hyeon Joo Jeong,
Beom Jin Lim,
Jin Sung Lee
Publication year - 2012
Publication title -
yonsei medical journal/yonsei medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.702
H-Index - 63
eISSN - 1976-2437
pISSN - 0513-5796
DOI - 10.3349/ymj.2012.53.2.454
Subject(s) - familial mediterranean fever , mefv , pyrin domain , medicine , amyloidosis , serositis , gene mutation , disease , gastroenterology , mutation , gene , inflammation , genetics , biology , inflammasome
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.