Familial Mediterranean fever with P369S/R408Q exon3 variant in pyrin presenting as symptoms of PFAPA

被引：12

作者：

Yamagami, Keiko ^{[1
]}

Nakamura, Tomoyuki ^{[1
]}

Nakamura, Ryota ^{[1
]}

Hanioka, Yusuke ^{[1
]}

Seki, Kaori ^{[1
]}

Chiba, Hiroshi ^{[2
]}

Kobayashi, Keiko ^{[3
]}

Agematsu, Kazunaga ^{[3
]}

机构：

[1] Osaka City Gen Hosp, Dept Internal Med, Osaka, Japan

[2] Hachinohe Municipal Hosp, Dept Gen Med, Hachinohe, Aomori, Japan

[3] Shinshu Univ, Grad Sch Med, Dept Infect & Host Def, Matsumoto, Nagano 3908621, Japan

来源：

MODERN RHEUMATOLOGY | 2017年 / 27卷 / 02期

关键词：

Familial Mediterranean fever; exon; 3; variant; PFAPA; PERIODIC FEVER; APHTHOUS STOMATITIS; JAPANESE-PATIENTS; ADENITIS SYNDROME; PHARYNGITIS;

D O I：

10.1080/14397595.2017.1267173

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Familial Mediterranean fever (FMF) can be classified into typical and incomplete/atypical types. Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome-like symptoms have been found in atypical type carrying P369S-R408Q mutations in the responsible gene MEFV. A 28-year-old female with recurrent fever and her young sisters and mother, all of whom had tonsillectomy for tonsillitis, carried heterozygous alterations involving E148Q/P369S/R408Q. A diagnosis of atypical FMF, MEFV exon3 variants with PFAPA syndrome-like symptoms, was made.

引用

页码：356 / 359

页数：4

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