Gentileschi Stefano, Rigante Donato, Vitale Antonio, Sota Jurgen, Frediani Bruno, Galeazzi Mauro, Cantarini Luca
Research Center of Systemic Autoinflammatory Diseases, Behçet's Disease Clinic and Rheumatology-Ophthalmology Collaborative Uveitis Center, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Siena, Italy.
Institute of Pediatrics, Università Cattolica Sacro Cuore, Fondazione Policlinico Universitario "A. Gemelli", Rome, Italy.
Clin Rheumatol. 2017 Jul;36(7):1687-1690. doi: 10.1007/s10067-017-3688-4. Epub 2017 May 23.
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS), caused by mutations in the TNFRSF1A gene, is the most frequent autosomal dominant autonflammatory disease displaying a relevant risk of reactive AA amyloidosis, if left untreated. Our report deals with one adult with TRAPS complicated by amyloidosis-related renal failure, treated with the recombinant human interleukin-1 receptor antagonist anakinra at a higher than conventional dosage. This treatment did not present any adverse event and led remarkably to the disappearance of all TRAPS-related manifestations and prompt decrease of laboratory abnormalities, including proteinuria. A review of the medical literature has been also considered to evaluate efficacy and safety of interleukin-1 inhibition in patients with TRAPS.
肿瘤坏死因子受体相关周期性综合征(TRAPS)由TNFRSF1A基因突变引起,是最常见的常染色体显性遗传性自身炎症性疾病,若不治疗,有发生反应性AA型淀粉样变性的显著风险。我们的报告涉及一名患有TRAPS并伴有淀粉样变性相关肾衰竭的成年人,用高于常规剂量的重组人白细胞介素-1受体拮抗剂阿那白滞素进行治疗。该治疗未出现任何不良事件,所有TRAPS相关表现均显著消失,实验室异常包括蛋白尿也迅速减轻。我们还查阅了医学文献,以评估白细胞介素-1抑制对TRAPS患者的疗效和安全性。