Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in Japan: a review of the literature.
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in Japan: a review of the literature.
复制标题
日本肿瘤坏死因子受体相关周期性综合征（TRAPS）：文献综述。
DOI：
10.1007/s10165-012-0737-3
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发表时间：
2013
期刊：
影响因子：
2.2
通讯作者：
Horiuchi T.
中科院分区：
文献类型：
--
作者：
Washio M;Nakano T;Kawaguchi Y;Takagi K;Kiyohara C;Tsukamoto H;Tokunaga S;Horiuchi T.
肿瘤坏死因子受体相关周期性综合征（TRAPS）是一种显性遗传的自身炎症综合征，其特征在于与皮疹、腹痛、肌痛、结膜炎、胸痛和关节痛相关的反复发热发作。有些病人有严重的腹痛导致腹部手术。大多数报告的TRAPS病例涉及欧洲血统的患者，但日本有9例TRAPS患者报告。在这里，我们回顾这九个案例报告。在这9例索引患者中报告的TNFRSF1A基因突变为C70S、T61I、C70G、C30Y、C30R、N101K和N25D。23例均出现发热（100%）。大多数患者出现皮疹（红斑）（84.6%）和关节痛（73.3%），一半患者出现肌痛（54.5%）和腹痛（50.0%）。虽然有一半的患者患有腹痛，但没有人接受手术。相比之下，只有一小部分患者出现胸痛（20.0%）、结膜炎（20.0%）和头痛（10.0%）。几乎所有病例（95.7%）涉及其亲属患有周期性发热的患者。这些结果表明，日本TRAPS患者的临床特征可能比西方国家的患者更温和。
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory syndrome that is characterized by recurrent episodes of fever attacks associated with rashes, abdominal pain, myalgia, conjunctivitis, chest pain, and arthralgia. Some patients have severe abdominal pain leading to abdominal surgery. Most reported cases of TRAPS involve patients of European ancestry, but there have been nine reports of patients with TRAPS in Japan. Here, we review these nine case reports. ReportedTNFRSF1Agene mutations in these nine index patients were C70S, T61I, C70G, C30Y, C30R, N101K, and N25D. Fever (100 %) was seen in all 23 cases. Most patients developed rash (erythema) (84.6 %) and arthralgia (73.3 %), and half suffered from myalgia (54.5 %) and abdominal pain (50.0 %). Although one-half of the patients suffered from abdominal pain, none underwent surgery. In contrast, only a small percentage of patients suffered from chest pain (20.0 %), conjunctivitis (20.0 %), and headache (10.0 %). Almost all cases (95.7 %) concerned patients whose relatives suffered from periodic fever. These findings suggest that the clinical features of Japanese TRAPS patients may be milder than those of patients in Western countries.