Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan.
Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
J Microbiol Immunol Infect. 2014 Dec;47(6):550-4. doi: 10.1016/j.jmii.2012.07.003. Epub 2012 Aug 24.
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is characterized by periodic fever, cutaneous rash, conjunctivitis, lymphadenopathy, abdominal pain, myalgia, and arthralgia. It is a rare autosomal dominant disease and strongly associated with heterozygous mutations in the tumor necrosis factor (TNF) receptor super family 1A (TNFRSF1A) gene. It is believed to be more common in Western countries than in Asian countries. Here, we present the case of a 14-year-old girl with periodic fever and abdominal pain with elevation of inflammatory markers for 2 years. After extensive work-up of infectious etiology with negative results, the diagnosis of TRAPS was made although no gene mutations were identified in the TNFRSF1A gene, MVK gene, and NALP3/CIAS1 gene. She had partial clinical response to corticosteroids and immunomodulatory agents. However, the treatment response to TNF-α inhibitor etanercept was dramatic. She has remained symptom free under regular weekly to biweekly etanercept treatment for 2 years. We also reviewed the related literature and summarized the data of 10 Asian cases of TRAPS.
肿瘤坏死因子受体相关周期性综合征（TRAPS）的特征是周期性发热、皮疹、结膜炎、淋巴结病、腹痛、肌痛和关节痛。它是一种罕见的常染色体显性遗传病，与肿瘤坏死因子（TNF）受体超家族 1A（TNFRSF1A）基因的杂合突变密切相关。据信，它在西方国家比在亚洲国家更为常见。在这里，我们报告了一例 14 岁女孩周期性发热和腹痛伴炎症标志物升高 2 年的病例。在广泛排除感染性病因且结果为阴性后，尽管在 TNFRSF1A 基因、MVK 基因和 NALP3/CIAS1 基因中未发现基因突变，但仍诊断为 TRAPS。她对皮质类固醇和免疫调节剂有部分临床反应。然而，TNF-α 抑制剂依那西普的治疗反应非常显著。她在定期每周至每两周接受依那西普治疗 2 年后，症状一直未出现。我们还回顾了相关文献，并总结了 10 例亚洲 TRAPS 病例的数据。
