The first case of adult-onset PFAPA syndrome in Japan

被引：15

作者：

Kutsuna, Satoshi ^{[1
]}

Ohmagari, Norio ^{[1
]}

Tanizaki, Ryutaro ^{[1
]}

Hagino, Noboru ^{[2
]}

Nishikomori, Ryuta ^{[3
]}

Ujiie, Mugen ^{[1
]}

Takeshita, Nozomi ^{[1
]}

Hayakawa, Kayoko ^{[1
]}

Kato, Yasuyuki ^{[1
]}

Kanagawa, Shuzo ^{[1
]}

机构：

[1] Dis Control & Prevent Ctr, Natl Ctr Global Hlth & Med, Shinjuku Ku, 1-21-1 Toyama, Tokyo 1628655, Japan

[2] Teikyo Univ, Chiba Med Ctr, Dept Hematol & Rheumatol, Ichuhara City, Chiba, Japan

[3] Kyoto Univ, Grad Sch Med, Dept Pediat, Sakyo Ku, Kyoto, Japan

来源：

MODERN RHEUMATOLOGY | 2016年 / 26卷 / 02期

关键词：

Autoinflammatory syndromes; MEFV gene; Periodic fever syndromes; PFAPA syndrome; p.Glu148Gln variation; PERIODIC FEVER; APHTHOUS STOMATITIS; PHARYNGITIS;

D O I：

10.3109/14397595.2013.857801

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A 26-year-old woman presented with fever and pharyngitis. She previously experienced four periodic febrile episodes at 30- to 40-day intervals. We suspected periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome, and prescribed predisolone, thereby her fever rapidly subsided. Her febrile episodes improved after daily cimetidine treatment. Genetic testing results of genomic DNA for periodic fever syndromes were negative, although she was heterozygous for p.Glu148Gln variation in MEFV, supporting the diagnosis of PFAPA syndrome.

引用

页码：286 / 287

页数：2

共 9 条

[1] MEFV gene analysis in PFAPA [J].