Gao Yutong, He Xiaoliang, Xu Daliang, Shen Yang, Hang Shouwei, Chen Denghuan, Chen Yuqing
Department of Paediatric rheumatology, Anhui Provincial Children's Hospital, Hefei, 230000, Anhui Province, China.
Department of endocrinology, Anhui Provincial Children's Hospital, Hefei, 230000, Anhui Province, China.
Heliyon. 2023 Sep 1;9(9):e19751. doi: 10.1016/j.heliyon.2023.e19751. eCollection 2023 Sep.
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.
本文报道1例被误诊为川崎病的肿瘤坏死因子受体相关周期性综合征（TRAPS）病例，并总结TRAPS的临床特征、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1例肿瘤坏死因子受体超家族成员1A（TNFRSF1A）突变的自身炎症性疾病患者，该患者在另一家医院被误诊为川崎病。结合该病例的临床特征、基因报告及文献复习，分析TRAPS的临床特征及治疗进展。TRAPS发病于1例4个月大的女性儿科患者。该患儿及其6岁的父亲均表现为周期性发热、反复皮疹，发作期白细胞、红细胞沉降率（ESR）及C反应蛋白（CRP）升高，但发作间期正常。该患儿在12号染色体6442923 - 6442931区域的TNFRSF1A存在杂合突变。核酸改变为：c.298（外显子3）_c.306（外显子3）291delCTCAGCTGC，导致3个氨基酸缺失p.L100_C 102del 292（p.Leu100_Cys102del）（NM_001065）。经依那西普治疗后，发热及皮疹症状消失，ESR、CRP、白细胞介素（IL）-1、IL-6及肿瘤坏死因子-α（TNF-α）水平恢复正常。随后，在1年的随访中未观察到肝、肾或心脏淀粉样变性及严重的依那西普相关不良事件。TRAPS的发病机制与TNFRSF1A突变有关，其特征为周期性发热发作，大多伴有反复皮疹、眶周水肿、腹痛及器官淀粉样变性等严重并发症。此外，依那西普可有效缓解TRAPS的临床症状及高炎症水平。
