Yamagami Keiko, Nakamura Tomoyuki, Nakamura Ryota, Hanioka Yusuke, Seki Kaori, Chiba Hiroshi, Kobayashi Keiko, Agematsu Kazunaga
a Department of Internal Medicine , Osaka City General Hospital , Osaka , Japan.
b Department of General Medicine , Hachinohe City Hospital , Hachinohe , Japan , and.
Mod Rheumatol. 2017 Mar;27(2):356-359. doi: 10.1080/14397595.2017.1267173.
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.
家族性地中海热（FMF）可分为典型型和不完全/非典型型。在负责基因MEFV中携带P369S-R408Q突变的非典型型患者中发现了周期性发热、复发性口疮性口炎、咽炎、颈淋巴结炎（PFAPA）综合征样症状。一名28岁反复发热的女性及其年轻姐妹和母亲均因扁桃体炎接受了扁桃体切除术，她们均携带涉及E148Q/P369S/R408Q的杂合性改变。诊断为非典型FMF，即具有PFAPA综合征样症状的MEFV外显子3变异型。
