Başaran Özge, Uncu Nermin, Çelikel Banu Acar, Taktak Aysel, Gür Gökçe, Cakar Nilgun
Department of Pediatric Rheumatology, Ankara, Child Health, Hematology and Oncology Education and Research Hospital , Ankara , Turkey.
Mod Rheumatol. 2015 Jul;25(4):621-4. doi: 10.3109/14397595.2014.987437. Epub 2014 Dec 22.
The aim of this report was to evaluate and discuss treatment of pediatric familial Mediterranean fever (FMF) patients with anti-interleukin1 (IL-1) agents.
Refractory or colchicine unresponsive FMF was described as severe and frequent attacks and/or having high acute phase reactance levels despite having a maximum dose of colchicine (2 mg/day). Disease course, adverse effects, duration of follow-up, treatment protocols, responses to the therapies were discussed.
Eight patients (6 male, 2 female) having refractory FMF were identified. Mediterranean fever (MEFV) gene analyses revealed homozygous M694V mutations in six patients and heterozygote M694V mutations in one patient and no mutation in one patient. They were all treated with anakinra and/or canakinumab. The use of anti-IL-1 drugs was beneficial to all patients. None of them had any severe adverse effects due to the therapy.
Anakinra and canakinumab were effective in patient refractory to colchicine treatment as shown both in our series and in the literature. Therefore, controlled trials are needed to evaluate the safety and long-term efficacy of IL-1 targeting agents in colchicine resistant patients.
本报告旨在评估和讨论使用抗白细胞介素1（IL-1）药物治疗小儿家族性地中海热（FMF）患者的情况。
难治性或对秋水仙碱无反应的FMF被描述为尽管使用了最大剂量的秋水仙碱（2毫克/天）仍有严重且频繁的发作和/或急性期反应物水平较高。讨论了疾病进程、不良反应、随访时间、治疗方案以及对治疗的反应。
确定了8例难治性FMF患者（6例男性，2例女性）。地中海热（MEFV）基因分析显示，6例患者为纯合子M694V突变，1例患者为杂合子M694V突变，1例患者无突变。他们均接受了阿那白滞素和/或卡那单抗治疗。使用抗IL-1药物对所有患者均有益。他们中没有一人因治疗出现任何严重不良反应。
正如我们的系列研究和文献中所显示的，阿那白滞素和卡那单抗对秋水仙碱治疗难治的患者有效。因此，需要进行对照试验来评估IL-1靶向药物在秋水仙碱耐药患者中的安全性和长期疗效。
