Yonsei Med J.  2012 Mar;53(2):454-458. 10.3349/ymj.2012.53.2.454.

The First Case of Familial Mediterranean Fever Associated with Renal Amyloidosis in Korea

• Koo KY
• Park SJ
• Wang JY
• Shin JI
• Jeong HJ
• Lim BJ
• Lee JS

• KMID: 1120219
• DOI: http://doi.org/10.3349/ymj.2012.53.2.454

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.

Keyword

Familial Mediterranean fever; amyloidosis; marenostrin

MeSH Terms

Amyloidosis/*diagnosis
Child
Familial Mediterranean Fever/*diagnosis
Humans
Kidney Diseases/*diagnosis
Korea
Male

Figure

• 

  Fig. 1 The mesangium is expanded by pinkish amorphous material (PAS, ×400) (A). This material shows apple green birefringence under the polarized microscopy after Congo red staining (×200) (B) and immunoreactivity to the amyloid A antibody (×200) (C). An electron microscopy reveals haphazardly arranged non-branching fibrils measuring 8-10 nm in diameter. (×50000) (D).

• 

  Fig. 2 Results of the DNA analysis of the MEFV gene.

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