PDF(Pubmed)
Abstract：
Recurring episodes of fever characterize tumor necrosis factor receptor-associated periodic syndrome (TRAPS) which is autosomal dominant. The primary symptoms of patients with TRAPS include prolonged fever, abdominal pain, muscle pain, and skin rashes. The prevalence of TRAPS appeared higher in Western countries than in Asian countries. Herein, we present the case of a 13-year-old girl who experienced intermittent fever for 8 years, with episodes that occur every 2 years. The patient demonstrated periodic fever, headache, vomiting, rash, and elevated inflammatory marker levels during the disease course. A heterozygous C55Y mutation was identified via a direct DNA sequencing of her genomic DNA. This mutation is located in exon 4 of TNFRSF1A. Genetic studies of her sister and mother revealed that they possessed the C55Y heterozygous mutation without demonstrating any clinical signs, while the father did not. Further, we conducted a thorough assessment of the literature and compiled the information from the eight TRAPS case series.
摘要：
反复发作的发热是常染色体显性遗传的肿瘤坏死因子受体相关周期性综合征(TRAPS)的特征。TRAPS患者的主要症状包括长时间发烧，腹痛,肌肉疼痛，还有皮疹.西方国家的TRAPS患病率高于亚洲国家。在这里，我们介绍了一个13岁女孩的病例，她经历了8年的间歇性发烧，每两年发生一次。患者表现出周期性发烧，头痛,呕吐,皮疹,在疾病过程中炎症标志物水平升高。通过她的基因组DNA的直接DNA测序鉴定杂合C55Y突变。该突变位于TNFRSF1A的外显子4中。对她的姐姐和母亲的遗传研究表明，他们拥有C55Y杂合突变，但没有任何临床症状。而父亲没有。Further,我们对文献进行了全面评估,并汇总了8例TRAPS病例系列的资料.
