Imaizumi Rie, Ishii Yasuo, Miki Katsuyuki, Kudo Shinji, Murakami Toru, Koyama Ichiro, Nakajima Ichiro, Fuchinoue Shohei, Kawaguchi Yasushi, Taniguchi Atsuo, Teraoka Satoshi
Department of Surgery, Kidney Center, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, 162-8666, Japan.
Institute of Rheumatology, Tokyo Women's Medical University, 10-22 Kawada-cho, Shinjuku-ku, Tokyo, 162-0054, Japan.
CEN Case Rep. 2015 May;4(1):1-5. doi: 10.1007/s13730-014-0129-y. Epub 2014 Jun 14.
The cryopyrin-associated periodic syndrome (CAPS) is an autosomal dominant autoinflammatory disease characterized by fever, skin rash, and joint involvement with acute inflammatory response. The genetic defect involves the NLRP3 gene that encodes cryopyrin and leads to an abnormal production of interleukin-1 (IL-1). Therefore, anti-IL-1 treatment represents an effective therapy. One of the most severe manifestations of the disease is secondary amyloidosis that causes renal failure. We present a patient with CAPS who underwent renal transplantation for renal insufficiency caused by amyloidosis. The function of the transplanted kidney deteriorated because of the late administration of IL-1 receptor antagonist, anakinra. This case may indicate the importance of early initiation of anti-IL-1 treatment in CAPS patients who have undergone kidney transplantation.
冷吡啉相关周期性综合征（CAPS）是一种常染色体显性遗传性自身炎症性疾病，其特征为发热、皮疹以及伴有急性炎症反应的关节受累。基因缺陷涉及编码冷吡啉的NLRP3基因，并导致白细胞介素-1（IL-1）产生异常。因此，抗IL-1治疗是一种有效的疗法。该疾病最严重的表现之一是继发性淀粉样变性，可导致肾衰竭。我们报告了一名因淀粉样变性导致肾功能不全而接受肾移植的CAPS患者。由于白细胞介素-1受体拮抗剂阿那白滞素给药延迟，移植肾的功能恶化。该病例可能表明，对于接受肾移植的CAPS患者，早期开始抗IL-1治疗具有重要意义。
