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阿那白滞素在冷吡啉相关周期性综合征中的应用:病例报告及文献综述

Use of anakinra in cryopyrin-associated periodic syndromes: case report and review of literature.

作者信息

Salas Sánchez Marta, García-Martínez Elena, Balastegui Martín Héctor, Durán-García María Esther, Lavilla Olleros Cristina

机构信息

Department of Internal Medicine, Hospital General Universitario Gregorio Marañón, Madrid, Spain.

Immunology Department, Hospital General Universitario Gregorio Marañón, Madrid, Spain.

出版信息

Front Immunol. 2025 Jun 5;16:1591234. doi: 10.3389/fimmu.2025.1591234. eCollection 2025.

Abstract

Cryopyrin-associated periodic syndrome is a rare autoinflammatory syndrome caused by a dysregulation of cytokine signaling pathways, particularly of the interleukin-1β production. Symptoms typical appear early in life and include recurrent fever, arthralgia, and cutaneous rash, often accompanied by systemic manifestations and progressive end-organ damage resulting from chronic inflammation. Interleukin- targeted therapy constitutes the basis for treatment, and can lead to complete resolution of symptoms. We report a case of a 66-year-old man with cryopyrin-associated periodic syndrome related to V198M mutation, successfully treated with anakinra, an interleukin- 1 inhibitor frequently used in rheumatoid arthritis.

摘要

冷吡啉相关周期性综合征是一种罕见的自身炎症性综合征,由细胞因子信号通路失调引起,尤其是白细胞介素-1β产生的失调。症状通常在生命早期出现,包括反复发热、关节痛和皮疹,常伴有全身表现以及慢性炎症导致的进行性终末器官损害。针对白细胞介素的治疗是治疗的基础,可使症状完全缓解。我们报告一例66岁男性冷吡啉相关周期性综合征病例,该病例与V198M突变有关,使用类风湿关节炎常用的白细胞介素-1抑制剂阿那白滞素成功治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fb76/12176851/27a3830bbab9/fimmu-16-1591234-g001.jpg

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