日本PFAPA综合征患者的MEFV变异

Q4 Medicine

Open Rheumatology Journal Pub Date : 2013-04-19 Print Date: 2013-01-01 DOI:10.2174/1874312901307010022

Shoichiro Taniuchi, Ryuta Nishikomori, Anna Iharada, Shoji Tuji, Toshio Heike, Kazunari Kaneko

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引用次数: 37

摘要

背景:PFAPA(周期性发热、口疮性口炎、咽炎、腺炎)综合征的发病机制尚不清楚。为了了解与其他自身炎症性疾病相关的基因是否可能参与PFAPA的发病机制，我们分析了PFAPA患儿中引起家族性地中海热(FMF)、肿瘤坏死因子(TNF)受体相关周期性综合征(TRAPS)和高IgD综合征的所有基因变异。患者和方法:分析20例PFAPA患者MEFV、TNFRSF1A和MVK的所有变异。根据先前公布的标准诊断PFAPA。将PFAPA患者的所有分析结果与未受影响的正常受试者(n=62)进行比较。结果:20例PFAPA患儿13例中，发现MEFV杂合变异体(E148Q- l110p 5例，E148Q- l110p /E148Q 1例，E148Q- p369s - r408q - e84k 1例，E148Q- l110p - p369s - a408g 1例，R202Q 1例，P115R 1例)。在PFAPA患儿中未检测到属于TNFRSF1A或MVK的变异。PFAPA患儿E148Q-L110P变异的频率显著高于未受影响的正常受试者(7/20 vs 8/62)。伴有MEFV变异的PFAPA患儿的发病持续时间比无变异的患儿短。结论:MEFV发生发展相关基因可能影响儿童PFAPA的发病及表型。

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MEFV Variants in Patients with PFAPA Syndrome in Japan.

Background: The pathogenesis of PFAPA (periodic fever, aphthous stomatitis, pharyngitis, adenitis) syndrome is unknown as yet. In order to understand whether genes implicated in other auto-inflammatory diseases might be involved in the pathogenesis of PFAPA, all variants in the genes causing familial Mediterranean fever (FMF), tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS), and Hyper IgD syndrome were analyzed in children with PFAPA.

Patients and methods: All variants in MEFV, TNFRSF1A, and MVK were analyzed in 20 patients with PFAPA. PFAPA were diagnosed by previous published criteria. The findings of all analyses in PFAPA patients were compared with those of unaffected normal subjects (n=62).

Results: In the 13 children of 20 with PFAPA, the heterozygous variants of MEFV (5 patients: E148Q-L110P, 2 patients: E148Q, 1 patient: E148Q-L110P/E148Q, 1 patient: E148Q-P369S-R408Q-E84K, 1 patient: E148Q-L110P-P369S-A408G, 1 patient: R202Q, 1 patient: P115R) were found. No variants belonging to TNFRSF1A or MVK were detected in children with PFAPA. The frequency of the E148Q-L110P variants in children with PFAPA was significantly higher than that observed in unaffected normal subjects (7/20 versus 8/62). The duration of the episodes of illness in PFAPA children with MEFV variants was shorter than that of patients without variants.

Conclusion: Genes involved in the development and progression of MEFV may affect the incidence and the phenotype of PFAPA in children.

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来源期刊

Open Rheumatology Journal Medicine-Rheumatology

CiteScore

0.80

自引率

0.00%

发文量

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