De Boeck K, Zolin A
Department of Pediatrics, University of Leuven, Belgium; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
Department of Pediatrics, University of Leuven, Belgium; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
J Cyst Fibros. 2017 Mar;16(2):239-245. doi: 10.1016/j.jcf.2016.09.009. Epub 2016 Oct 11.
In patients with cystic fibrosis, most treatments addressing the underlying basic defect are mutation or mutation class specific. These treatments are disease modifying if they lower the year to year change in lung function. We therefore calculated the current loss of lung function, measured by year to year change in forced expired volume in 1s in 11,417 patients included in the European Cystic Fibrosis Society Patient Registry. Whereas patients with at least one mutation of class IV or V have on average a lower year to year change, we did not find a difference between patients with a stop codon mutation, homozygous for F508del or at least one class III mutation. These data are useful background information to discuss the impact of different disease modifying treatments.
在囊性纤维化患者中，大多数针对潜在基本缺陷的治疗是针对特定突变或突变类型的。如果这些治疗能降低肺功能的逐年变化，那么它们就是疾病修饰性治疗。因此，我们计算了欧洲囊性纤维化协会患者登记处纳入的11417例患者的肺功能当前损失情况，通过1秒用力呼气量的逐年变化来衡量。虽然至少有一个IV类或V类突变的患者平均每年变化较小，但我们未发现终止密码子突变患者、F508del纯合子患者或至少有一个III类突变的患者之间存在差异。这些数据是讨论不同疾病修饰性治疗影响的有用背景信息。
