PDF(Pubmed)
Abstract：
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS, OMIM: #142680) is a rare autoinflammatory disease (AID) with recurrent febrile episodes. To our knowledge, we report herein the first case of a patient with TRAPS in South Korea whose symptoms included fever, arthralgia, abdominal pain, rash, myalgia, cough, and lymphadenopathy. A pathogenic de novo mutation, c.175T>C (p.Cys59Arg), in the tumor necrosis factor receptor superfamily member 1A (TNFRSF1A) gene, was confirmed by gene sequencing. The patient has been with tocilizumab (an interleukin-6 inhibitor); tocilizumab administration every other week has completely alleviated the patient\'s symptoms. Our report further expands the clinical spectrum of patients with TRAPS and reaffirms the use of tocilizumab as a viable alternative treatment option for those patients who are unsatisfactorily responsive to other commonly used biologics, such as canakinumab, anakinra, infliximab, and etanercept. Furthermore, our report may aid in increasing awareness about the existence of mutation-confirmed TRAPS in South Korea in addition to emphasizing the importance of actively pursuing genetic testing to correctly diagnose rare AID.
摘要：
肿瘤坏死因子受体相关周期性综合征（TRAPS，OMIM：＃142680）是一种罕见的自身炎性疾病（AID），伴有反复发热发作。据我们所知,我们在此报告了韩国首例TRAPS患者，其症状包括发烧，关节痛,腹痛,皮疹,肌痛，咳嗽,和淋巴结病。致病性从头突变，c.175T>C（第Cys59Arg），在肿瘤坏死因子受体超家族成员1A（TNFRSF1A）基因中，通过基因测序证实。患者已使用tocilizumab（一种白介素-6抑制剂）；每隔一周服用tocilizumab已完全缓解患者的症状。我们的报告进一步扩大了TRAPS患者的临床范围，并重申了使用托珠单抗作为对其他常用生物制剂反应不满意的患者的可行替代治疗选择。比如canakinumab，anakinra,英夫利昔单抗,和etanercept。此外，我们的报告除了强调积极进行基因检测以正确诊断罕见AID的重要性外,还可能有助于提高韩国对突变证实的TRAPS存在的认识.
