依那西普治疗肿瘤坏死因子受体相关周期性综合征（TRAPS）样疾病的改良方案。
Modified regimen of etanercept for tumor necrosis factor receptor associated periodic syndrome (TRAPS) like illness.
机构信息
Pediatric Rheumatology Clinic, Jaslok Hospital and Research Center, Mumbai, Maharashtra, India. Correspondence to: Dr RP Khubchandani, Consultant Pediatrician, Jaslok Hospital and Breach Candy Hospital, Mumbai, Maharashtra, India.
出版信息
Indian Pediatr. 2014 Jan;51(1):55-7. doi: 10.1007/s13312-014-0313-3.
BACKGROUND
TRAPS, an autosomal dominant autoinflammatory disorder occurs due to mutations of the TNFRSF1A gene. Mutation negative TRAPS (TRAPS like illness) is also known. Anti TNF molecules (etanercept) is the mainstay of therapy.
CASE CHARACTERISTICS
A 11-year-old boy with a 5 year clinical profile indicative of a TRAPS like illness and with negative mutation studies is described. He has been followed up for nearly 2 years after starting etanercept.
OUTCOME
He had sustained response to etanercept which has subsequently been titrated (0.4 mg/kg subcutaneously every 23-24 days) to keep him symptom free.
MESSAGE
Mutation negative cases of TRAPS can be diagnosed with a high index of suspicion. Treatment with etanercept is expensive but possibly intervals between doses could be titrated to reduce cost.
背景
TRAPS 是一种常染色体显性自身炎症性疾病，由 TNFRSF1A 基因突变引起。突变阴性的 TRAPS（TRAPS 样疾病）也已被发现。抗 TNF 分子（依那西普）是治疗的主要方法。
病例特征
本文介绍了一名 11 岁男孩，他的临床症状已有 5 年，表现为 TRAPS 样疾病，但突变研究结果为阴性。在开始使用依那西普后，他已经接受了近 2 年的随访。
结果
他对依那西普有持续的反应，随后逐渐减少剂量（每 23-24 天皮下注射 0.4mg/kg）以保持症状缓解。
结论
对于高度怀疑的 TRAPS 突变阴性病例，可以进行诊断。依那西普治疗费用昂贵，但可能可以根据剂量滴定来减少费用。
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