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一名患有肠白塞病的患者存在地中海热(MEFV)基因变异P369S/R408Q,其对秋水仙碱治疗反应良好。

Mediterranean fever (MEFV) variant P369S/R408Q in a patient with entero-Behçet's disease who successfully responded to treatment with colchicine.

作者信息

Fujikawa Keita, Migita Kiyoshi, Nagasato Akio, Tsukada Toshiaki, Kawakami Atsushi, Eguchi Katsumi

机构信息

Department of Rheumatology, Japan Community Health care Organization (JCHO), Isahaya General Hospital, Japan.

出版信息

Intern Med. 2014;53(20):2381-4. doi: 10.2169/internalmedicine.53.2872. Epub 2014 Oct 15.

DOI:10.2169/internalmedicine.53.2872
PMID:25318808
Abstract

A 57-year-old Japanese woman who had been diagnosed as having entero-Behçet's disease nine years earlier was admitted with a persistent high-grade fever. An Mediterranean fever (MEFV) gene analysis revealed the compound heterozygous P369S-R408Q variant. She was treated with colchicine, and her symptoms immediately improved. Prednisolone (PSL) was added to treat the punched-out ulcers in the terminal ileum, leading to remission. There has been no relapse since the PSL was discontinued. In Behçet's disease patients with MEFV variants, the use of colchicine should therefore be considered in such patients as well as immunosuppressive therapy.

摘要

一名57岁的日本女性,9年前被诊断为肠白塞病,因持续高热入院。地中海热(MEFV)基因分析显示为复合杂合子P369S-R408Q变异。她接受了秋水仙碱治疗,症状立即改善。加用泼尼松龙(PSL)治疗回肠末端的深在性溃疡,病情缓解。停用PSL后未再复发。因此,在患有MEFV变异的白塞病患者中,除免疫抑制治疗外,也应考虑使用秋水仙碱。

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Mediterranean fever (MEFV) variant P369S/R408Q in a patient with entero-Behçet's disease who successfully responded to treatment with colchicine.一名患有肠白塞病的患者存在地中海热(MEFV)基因变异P369S/R408Q,其对秋水仙碱治疗反应良好。
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