Familial Mediterranean fever in 2 Japanese families

Koji Shinozaki; Kazunaga Agematsu; Kozo Yasui; Haruo Nagumo; Hajime Naitoh; Kuniaki Naganuma; Atsushi Komiyama

Familial Mediterranean fever in 2 Japanese families

J Rheumatol. 2002 Jun;29(6):1324-5.

Authors

Koji Shinozaki¹, Kazunaga Agematsu, Kozo Yasui, Haruo Nagumo, Hajime Naitoh, Kuniaki Naganuma, Atsushi Komiyama

Affiliation

¹ Department of Pediatrics, Graduate School of Medicine, Shinshu University, Matsumoto, Japan.

PMID: 12064853

Abstract

We describe 3 Japanese patients in 2 families with familial Mediterranean fever (FMF) as determined by gene analysis. FMF is an ethnically related, genetic disease, occurring commonly in some Mediterranean populations. The FMF gene (MEFV) mutation found in our patients is M694I. The patients may be remote from East Asian extraction.

Publication types

Case Reports

MeSH terms

Adolescent
Adult
DNA Mutational Analysis
Familial Mediterranean Fever / diagnosis
Familial Mediterranean Fever / drug therapy
Familial Mediterranean Fever / genetics*
Female
Follow-Up Studies
Genetic Predisposition to Disease
Humans
Japan
Mutation, Missense
Pedigree
Point Mutation*