Mei Zahav Meir, Orenti Annalisa, Jung Andreas, Hatziagorou Elpis, Olesen Hanne Vebert, Kerem Eitan
Kathy and Lee Graub Cystic Fibrosis Centre and Pulmonary Unit, Schneider Children's Medical Centre of Israel, Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Department of Clinical Sciences and Community Health, Laboratory of Medical Statistics, Biometry and Epidemiology "G.A. Maccacaro", University of Milan, Italy.
J Cyst Fibros. 2023 Mar;22(2):234-247. doi: 10.1016/j.jcf.2022.07.015. Epub 2022 Aug 5.
People with cystic fibrosis carrying residual function (RF) mutations are considered to have a mild disease course. This may influence caregivers and patients on how intensive the treatments should be.
Characterize disease severity of patients carrying RF mutations, using the European CF Society Patient Registry (ECFSPR) data.
Demographic, clinical characteristics, lung function and death probability of patients carrying at least one RF mutation were analyzed and compared to patients homozygous to minimal function mutations (MF).
Of the 44,594 eligible patients (median age 19.5 years, IQR 10-29.8), 6,636 (14.6%) carried RF mutations, and 37,958 (85.1%) MF mutations. Patients carrying RF mutations were older, diagnosed at a later age, had lower sweat chloride at diagnosis and better FEV1pp at each age group. However, their FEV1pp declined with age and rates of chronic Pseudomonas aeruginosa increased with age. A significant number of patients with RF had FEV1pp similar to patients with MF at each age group. 4.5% of RF patients were treated with oxygen and 2.61% had a lung transplant. With increasing age, 26.6% of RF patients were treated with pancreatic enzymes associated with a more severe lung disease. RF patients had shortened life spans, with mortality starting around the age of 20 years.
Patients carrying an RF mutations experience a decline of pulmonary function with age, leading to life-shortening. Standard of care therapies and augmenting CFTR function may improve their survival and quality of life.
携带残余功能（RF）突变的囊性纤维化患者被认为病程较轻。这可能会影响护理人员和患者对治疗强度的看法。
利用欧洲囊性纤维化协会患者登记处（ECFSPR）的数据，描述携带RF突变患者的疾病严重程度。
分析携带至少一种RF突变患者的人口统计学、临床特征、肺功能和死亡概率，并与最小功能突变（MF）纯合子患者进行比较。
在44594名符合条件的患者（中位年龄19.5岁，四分位距10 - 29.8岁）中，6636名（14.6%）携带RF突变，37958名（85.1%）携带MF突变。携带RF突变的患者年龄较大，诊断较晚，诊断时汗液氯化物水平较低，各年龄组的第一秒用力呼气容积百分比预计值（FEV1pp）较好。然而，他们的FEV1pp随年龄下降，慢性铜绿假单胞菌感染率随年龄增加。在每个年龄组中，相当数量的携带RF突变的患者的FEV1pp与携带MF突变的患者相似。4.5%的携带RF突变的患者接受了氧疗，2.61%的患者进行了肺移植。随着年龄的增长，26.6%的携带RF突变的患者因肺部疾病较重而接受了胰酶治疗。携带RF突变的患者寿命缩短，死亡率在20岁左右开始上升。
携带RF突变的患者肺功能随年龄下降，导致寿命缩短。标准护理疗法和增强囊性纤维化跨膜传导调节因子（CFTR）功能可能会改善他们的生存和生活质量。
