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

Authors
 Kyo Yeon Koo  ;  Se Jin Park  ;  Ji Young Wang  ;  Jae Il Shin  ;  Hyeon Joo Jeong  ;  Beom Jin Lim  ;  Jin-Sung Lee 
Citation
 YONSEI MEDICAL JOURNAL, Vol.53(2) : 454-458, 2012 
Journal Title
 YONSEI MEDICAL JOURNAL 
ISSN
 0513-5796 
Issue Date
2012
MeSH
Amyloidosis/diagnosis* ; Child ; Familial Mediterranean Fever/diagnosis* ; Humans ; Kidney Diseases/diagnosis* ; Korea ; Male
Keywords
Familial Mediterranean fever ; amyloidosis ; marenostrin
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.
Files in This Item:
T201203372.pdf Download
DOI
22318840
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Clinical Genetics (임상유전학과) > 1. Journal Papers
Yonsei Authors
Goo, Kyo Yeon(구교연)
Park, Se Jin(박세진)
Shin, Jae Il(신재일) ORCID logo https://orcid.org/0000-0003-2326-1820
Lee, Jin Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
Lim, Beom Jin(임범진) ORCID logo https://orcid.org/0000-0003-2856-0133
Jeong, Hyeon Joo(정현주) ORCID logo https://orcid.org/0000-0002-9695-1227
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/92136
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