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秋水仙碱治疗肿瘤坏死因子受体相关周期性综合征(TRAPS)的作用:AIDA 网络的真实数据。

Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network.

机构信息

Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease and Rheumatology-Ophthalmology Collaborative Uveitis Center, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Italy.

Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

出版信息

Mediators Inflamm. 2020 May 27;2020:1936960. doi: 10.1155/2020/1936960. eCollection 2020.

Abstract

OBJECTIVE

To analyze the potential role of colchicine monotherapy in patients with tumor necrosis factor receptor associated periodic syndrome (TRAPS) in terms of control of clinical and laboratory manifestations.

METHODS

Patients with TRAPS treated with colchicine monotherapy were retrospectively enrolled; demographic, clinical and therapeutic data were collected and statistically analysed after having clustered patients according to different times at disease onset, penetrance of mutations, dosage of colchicine, and different disease manifestations.

RESULTS

24 patients (14 males; 15 with pediatric disease onset) treated with colchicine monotherapy were enrolled. Colchicine resulted in a complete response in 3 (12.5%) cases, partial response in 14 (58.3%) patients, and lack of response in 7 (29.2%) patients. There were not significant differences in colchicine response between pediatric and adult disease onset ( = 0.42), between low- and high-penetrance mutations ( = 0.62), and according to different dosages ( = 0.66). No significant differences were identified in the frequency of specific disease manifestations between patients experiencing any response to colchicine and patients with lack of response.

CONCLUSIONS

Colchicine monotherapy is useful in a low percentage of TRAPS patients; nevertheless, it could be attempted in patients with milder phenotypes and at a lower risk of developing reactive amyloidosis.

摘要

目的

分析秋水仙碱单药治疗肿瘤坏死因子受体相关周期性综合征(TRAPS)患者在控制临床和实验室表现方面的潜在作用。

方法

回顾性纳入接受秋水仙碱单药治疗的 TRAPS 患者;收集人口统计学、临床和治疗数据,并根据疾病发病不同时间、突变穿透性、秋水仙碱剂量和不同疾病表现对患者进行聚类后进行统计学分析。

结果

共纳入 24 例接受秋水仙碱单药治疗的患者(男性 14 例;儿科发病 15 例)。秋水仙碱在 3 例(12.5%)患者中完全缓解,在 14 例(58.3%)患者中部分缓解,在 7 例(29.2%)患者中无反应。儿科和成人发病(=0.42)、低穿透性和高穿透性突变(=0.62)以及不同剂量(=0.66)之间,秋水仙碱反应无显著差异。在对秋水仙碱有任何反应的患者和无反应的患者之间,特定疾病表现的频率没有差异。

结论

秋水仙碱单药治疗对 TRAPS 患者的疗效较低,但对于表型较轻且发生反应性淀粉样变性风险较低的患者,可以尝试使用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5f9/7273368/6a8bc03fe436/MI2020-1936960.001.jpg

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