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Abstract：
OBJECTIVE: TNF receptor-1-associated periodic syndrome (TRAPS) is a rare autosomal dominant autoinflammatory disorder associated with mutations in the TNF receptor super family 1 A (TNFRSF1A) gene. AA amyloidosis (AA) is the most severe complication of TRAPS. To study the occurrence and prognosis of AA in TRAPS, we conducted a retrospective study of all French cases and a systematic literature review.
METHODS: This case series includes TRAPS patients followed by our centre from 2000 to 2020 presenting with histologically confirmed AA. We conducted a systematic literature review on the PubMed and EMBASE databases for articles published up to February 2021 following the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines and using the keywords: amyloidoisis, amyloid, TNF receptor-associated periodic syndrome, TNF receptor-associated periodic syndrome, tumor necrosis factor receptor-associated periodic syndrome, TRAPS, TNFRSF1A, familial hibernian fever and hibernian familial fever.
RESULTS: A total of 41 TRAPS with AA were studied: three new patients and 38 cases from the literature. AA diagnosis preceded that of TRAPS in 96% of cases, and 17/36 (47%) required renal replacement therapy. Death occurred in 5/36 (14%) with a median follow-up of 23 months. Effect of biologics on AA were available for 21 regimens in 19 patients: 10 improved renal function, seven stabilized and four worsened. Four patients (36% of transplanted patients) relapse AA on kidney graft (only one under etanercept).
CONCLUSIONS: TRAPS is revealed by AA in most cases. Therefore, clinical features of TRAPS should be screened for in AA patients. IL-1 antagonist can help to normalize inflammation and to preserve renal function.
METHODS: This case series includes TRAPS patients followed by our centre from 2000 to 2020 presenting with histologically confirmed AA. We conducted a systematic literature review on the PubMed and EMBASE databases for articles published up to February 2021 following the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines and using the keywords: amyloidoisis, amyloid, TNF receptor-associated periodic syndrome, TNF receptor-associated periodic syndrome, tumor necrosis factor receptor-associated periodic syndrome, TRAPS, TNFRSF1A, familial hibernian fever and hibernian familial fever.
RESULTS: A total of 41 TRAPS with AA were studied: three new patients and 38 cases from the literature. AA diagnosis preceded that of TRAPS in 96% of cases, and 17/36 (47%) required renal replacement therapy. Death occurred in 5/36 (14%) with a median follow-up of 23 months. Effect of biologics on AA were available for 21 regimens in 19 patients: 10 improved renal function, seven stabilized and four worsened. Four patients (36% of transplanted patients) relapse AA on kidney graft (only one under etanercept).
CONCLUSIONS: TRAPS is revealed by AA in most cases. Therefore, clinical features of TRAPS should be screened for in AA patients. IL-1 antagonist can help to normalize inflammation and to preserve renal function.
摘要：
目的：TNF受体-1相关周期性综合征（TRAPS）是一种罕见的常染色体显性遗传自身炎症性疾病，与TNF受体超家族1A（TNFRSF1A）基因突变相关。AA淀粉样变性（AA）是TRAPS最严重的并发症。研究TRAPS中AA的发生和预后,我们对所有法国病例进行了回顾性研究,并进行了系统的文献综述.
方法：本病例系列包括我们中心从2000年到2020年的TRAPS患者，经组织学证实为AA。我们在PubMed和EMBASE数据库上进行了系统的文献综述，以遵循系统评论和荟萃分析指南的首选报告项目，并使用关键词：淀粉样蛋白，淀粉样蛋白,TNF受体相关周期性综合征,TNF受体相关周期性综合征,肿瘤坏死因子受体相关周期性综合征,陷阱,TNFRSF1A,家族性冬眠热及家族性冬眠热。
结果：共研究了41例AA患者：3例新患者和38例文献。在96％的病例中，AA诊断先于TRAPS，17/36（47％）需要肾脏替代疗法。死亡发生在5/36（14％），中位随访时间为23个月。生物制剂对AA的影响可用于19例患者的21个方案：10个改善肾功能，七个稳定，四个恶化。四名患者（占移植患者的36％）在肾移植上复发AA（只有一名在依那西普治疗下）。
结论：在大多数情况下，AA揭示了TRAPS。因此,应在AA患者中筛查TRAPS的临床特征.IL-1拮抗剂可以帮助炎症正常化并保持肾功能。
方法：本病例系列包括我们中心从2000年到2020年的TRAPS患者，经组织学证实为AA。我们在PubMed和EMBASE数据库上进行了系统的文献综述，以遵循系统评论和荟萃分析指南的首选报告项目，并使用关键词：淀粉样蛋白，淀粉样蛋白,TNF受体相关周期性综合征,TNF受体相关周期性综合征,肿瘤坏死因子受体相关周期性综合征,陷阱,TNFRSF1A,家族性冬眠热及家族性冬眠热。
结果：共研究了41例AA患者：3例新患者和38例文献。在96％的病例中，AA诊断先于TRAPS，17/36（47％）需要肾脏替代疗法。死亡发生在5/36（14％），中位随访时间为23个月。生物制剂对AA的影响可用于19例患者的21个方案：10个改善肾功能，七个稳定，四个恶化。四名患者（占移植患者的36％）在肾移植上复发AA（只有一名在依那西普治疗下）。
结论：在大多数情况下，AA揭示了TRAPS。因此,应在AA患者中筛查TRAPS的临床特征.IL-1拮抗剂可以帮助炎症正常化并保持肾功能。
