A Japanese Case of Familial Mediterranean Fever with Family History Demonstrating a Mutation in MEFV

Ken-ichi YOSHIDA; Shigeru KANAOKA; Masayoshi KAJIMURA; Hideki KATAOKA; Kenichiro TAKAHIRA; Satoshi OSAWA; Munetaka SANO; Akira HISHIDA

doi:10.2169/internalmedicine.42.761

A Japanese Case of Familial Mediterranean Fever with Family History Demonstrating a Mutation in MEFV

Ken-ichi YOSHIDA, Shigeru KANAOKA, Masayoshi KAJIMURA, Hideki KATAOKA, Kenichiro TAKAHIRA, Satoshi OSAWA, Munetaka SANO, Akira HISHIDA

Author information

Ken-ichi YOSHIDA
The First Department of Medicine, Hamamatsu University School of Medicine
Shigeru KANAOKA
The First Department of Medicine, Hamamatsu University School of Medicine
Masayoshi KAJIMURA
The First Department of Medicine, Hamamatsu University School of Medicine
Hideki KATAOKA
The First Department of Medicine, Hamamatsu University School of Medicine
Kenichiro TAKAHIRA
The First Department of Medicine, Hamamatsu University School of Medicine
Satoshi OSAWA
The First Department of Medicine, Hamamatsu University School of Medicine
Munetaka SANO
The First Department of Medicine, Hamamatsu University School of Medicine
Akira HISHIDA
The First Department of Medicine, Hamamatsu University School of Medicine

Keywords: familial Mediterranean fever, FMF, MEFV, periodic fever, autosomal recessive disorder, genetic diagnosis

JOURNAL FREE ACCESS

2003 Volume 42 Issue 8 Pages 761-764

DOI https://doi.org/10.2169/internalmedicine.42.761

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Abstract

We describe a 17-year-old woman with a family history of FMF who suffered from recurrent fever accompanied by pains in the left chest and abdomen. During a five-year period she experienced attacks about once every six months. The metaraminol provocative test was positive. Genomic DNA extracted from peripheral blood lymphocytes from both her and her parents were analyzed by polymerase chain reaction (PCR), followed by cycle sequencing. We detected a mutation (ATG to ATA) in codon 694 in exon 10 of the FMF gene, MEFV, that resulted in a substitution of isoleucine for methionine (M694I) in both her and her father. This is the first Japanese case of FMF with a mutation in MEFV identified in the family history.
(Internal Medicine 42: 761-764, 2003)

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