如何面对这种现象呢?鉴于依库珠单抗每年高达50万欧元的高治疗成本和转换为另一种治疗前长达3个月的相对较长的治疗时间,患者或许可以在治疗前进行基因测序[4]。因为,如果患者在无效治疗期间可能出现并发症,导致住院费用可能增加,况且,溶血危象在PNH患者中很常见,早起控制溶血对于患者避免可能导致心肌瘢痕、器官衰竭、永久性残疾和死亡的并发症至关重要[6]。不过,由于并不是每一个C5突变患者都对依库珠单抗效果不好,所以,究竟是否需要进行基因检测,还是取决于大家自身的情况~ 图源:摄图网不过,相对于基因检测,与医生保持密切沟通,定期监测血液参数,如乳酸脱氢酶(LDH)水平等来判断治疗的有效性。如果大家发现治疗效果不理想,尽早调整治疗方案,这或许是更重要的方面~参考文献:[1]Dmytrijuk A, Robie-Suh K, Cohen MH, Rieves D, Weiss K, Pazdur R. FDA report: eculizumab (Soliris) for the treatment of patients with paroxysmal nocturnal hemoglobinuria. Oncologist. 2008;13(9):993-1000. doi:10.1634/theoncologist.2008-0086[2]Kelly RJ, Hill A, Arnold LM, et al. Long-term treatment with eculizumab in paroxysmal nocturnal hemoglobinuria: sustained efficacy and improved survival. Blood. 2011;117(25):6786-6792. doi:10.1182/blood-2011-02-333997[3]Kanakura Y, Ohyashiki K, Shichishima T, et al. Long-term efficacy and safety of eculizumab in Japanese patients with PNH: AEGIS trial. Int J Hematol. 2013;98(4):406-416. doi:10.1007/s12185-013-1404-y[4]Bouwman HB, Guchelaar HJ. The efficacy and safety of eculizumab in patients and the role of C5 polymorphisms. Drug Discov Today. 2024;29(9):104134. doi:10.1016/j.drudis.2024.104134[5]Nishimura J. Rinsho Ketsueki. 2014;55(1):22-28.[6]Mealy MA, Mossburg SE, Kim SH, et al. Long-term disability in neuromyelitis optica spectrum disorder with a history of myelitis is associated with age at onset, delay in diagnosis/preventive treatment, MRI lesion length and presence of symptomatic brain lesions. Mult Scler Relat Disord. 2019;28:64-68. doi:10.1016/j.msard.2018.12.011