PDF(Pubmed)
Abstract：
This article reports a case of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) misdiagnosed as Kawasaki disease and summarizes the clinical features and therapeutic progress of TRAPS and the relationship between its clinical manifestations and gene mutations. We retrospectively analyzed a patient with tumor necrosis factor receptor superfamily member 1A (TNFRSF1A) -mutated auto-inflammatory disease who was misdiagnosed with Kawasaki disease in another hospital. The clinical features and therapeutic progress of TRAPS were analyzed by combining clinical features and gene reports of this case and literature review. TRAPS onset occurred in a female pediatric patient at the age of 4 months. The child and in his father at the age of 6 years, both of whom manifested periodic fever, and recurrent rash, as well as elevated leukocytes, erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP) during episodes but normal between episodes. This child carried a heterozygous mutation in TNFRSF1A located in the region 6442923-6442931 on chromosome 12. The nucleic acid alteration was: c.298 (exon3) _c.306 (exon3) 291 delCTCAGCTGC, resulting in a 3 amino acid deletion p.L100_C 102del 292 (p.Leu100_Cys102del) (NM_001065). After etanercept treatment, the symptoms of fever and rash disappeared, and the levels of ESR, CRP, interleukin (IL)-1, IL-6, and TNF-α levels were normal. Subsequently, no liver, kidney, or cardiac amyloidosis and severe etanercept-related adverse events were observed at 1-year follow-up. TRAPS pathogenesis is associated with TNFRSF1A mutation, which is characterized by periodic episodes of fever, mostly accompanied by recurrent rashes, periorbital edema, abdominal pain, and serious complications of organ amyloidosis. Moreover, etanercept can effectively alleviate the clinical symptoms and high inflammation level of TRAPS.
摘要：
本文报道1例误诊为川崎病的肿瘤坏死因子受体相关周期性综合征(TRAPS),总结TRAPS的临床特点、治疗进展及其临床表现与基因突变的关系。我们回顾性分析了在另一家医院误诊为川崎病的肿瘤坏死因子受体超家族成员1A（TNFRSF1A）突变的自身炎性疾病患者。结合该病例的临床特点和基因报道及文献复习,分析TRAPS的临床特点和治疗进展。TRAPS发作发生在4个月大的女性儿科患者中。孩子和他的父亲在6岁时，两人都表现出周期性发烧，反复出现的皮疹,以及白细胞升高，红细胞沉降率（ESR），和C反应蛋白（CRP）在发作期间，但发作之间正常。这个孩子在位于染色体12上6442923-6442931区域的TNFRSF1A中携带杂合突变。核酸改变为:c.298(exon3)_c.306(exon3)291delCTCAGCTGC,导致3个氨基酸缺失p.L100_C102del292（p。Leu100_Cys102del)(NM_001065)。依那西普治疗后,发烧和皮疹的症状消失了，和ESR的水平，CRP,白细胞介素（IL）-1，IL-6和TNF-α水平正常。随后，没有肝脏,肾,或心脏淀粉样变性和严重依那西普相关不良事件在1年随访时观察到.TRAPS的发病机制与TNFRSF1A突变有关，其特征是周期性的发烧，主要伴有复发性皮疹，眶周水肿,腹痛,器官淀粉样变性的严重并发症。此外，依那西普能有效缓解TRAPS的临床症状和高炎症水平。
