The First Case of Familial Mediterranean Fever Associated with Renal Amyloidosis in Korea.
10.3349/ymj.2012.53.2.454
- Author:
Kyo Yeon KOO
1
;
Se Jin PARK
;
Ji Young WANG
;
Jae Il SHIN
;
Hyeon Joo JEONG
;
Beom Jin LIM
;
Jin Sung LEE
Author Information
1. Department of Clinical Genetics, Yonsei University College of Medicine, Seoul, Korea. jinsunglee@yuhs.ac
- Publication Type:Case Reports
- Keywords:
Familial Mediterranean fever;
amyloidosis;
marenostrin
- MeSH:
Amyloidosis/*diagnosis;
Child;
Familial Mediterranean Fever/*diagnosis;
Humans;
Kidney Diseases/*diagnosis;
Korea;
Male
- From:Yonsei Medical Journal
2012;53(2):454-458
- CountryRepublic of Korea
- Language:English
-
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.
