Başaran Abdurrahman Erdem, Başaran Ayşen, Kocacik Uygun Dilara Fatma, Yılmaz Elanur, Moballegh Asef, Öz Latife, Alper Özgül, Bingöl Ayşen
Division of Pediatric Pulmonology, Akdeniz University School of Medicine, Antalya, Turkey.
Department of Pediatrics, Akdeniz University School of Medicine, Antalya, Turkey.
Turk Thorac J. 2021 Nov;22(6):426-431. doi: 10.5152/TurkThoracJ.2021.20282.
To compare class I/II cystic fibrosis transmembrane conductance regulator (CFTR) mutations to class III-V mutations with regards to cystic fibrosis disease severity markers in children.
This study was designed as a cross-sectional study in Antalya province, located on the south coast of Turkey. The study included 38 cystic fibrosis patients aged between 0.6 and 18 years. The CFTR genotype of the patients was categorized into 2 groups based on the presence or absence of class I or class II mutations in any of the alleles. Group I comprised 8 homozygous, 8 with unknown alleles, and 8 compound heterozygous patients, and group II comprised 11 homozygous and 3 compound heterozygous patients. The groups were analyzed in respect of cystic fibrosis disease severity markers, such as spirometry, ShwachmanKulczycki score, body mass index (BMI), sweat chloride concentration, chronic Pseudomonas aeruginosa infection, annual exacerbation frequency, and severe exacerbations requiring hospitalization during the previous year.
In the comparison of group I and group II patients, a significant difference was observed in pancreas insufficiency (83.3% vs. 35.7%; P = .005), chronic P. aeruginosa infection (58.3% vs. 7.1%; P = .002), cough severity score (1.7 ± 1.1 vs. 0.9 ± 1.5; P = .029), number of severe exacerbations requiring hospitalization during the previous year (0.9 ± 1 vs. 0.3 ± 0.8; P = .03), and sweat chloride levels (76.7 ± 15.2 vs. 61 ± 22.3; P = .02). All these values were higher in group I patients. The mean BMI values (15.8 ± 2.2 vs. 17.6 ± 2.8; P = .03) were lower in group I patients.
There seems to be a difference between class I/II CFTR mutations and class III-V mutations on the severity of the disease in cystic fibrosis patients.
比较儿童囊性纤维化患者中I/II类囊性纤维化跨膜传导调节因子（CFTR）突变与III - V类突变在囊性纤维化疾病严重程度标志物方面的差异。
本研究设计为在土耳其南海岸的安塔利亚省进行的横断面研究。该研究纳入了38例年龄在0.6至18岁之间的囊性纤维化患者。根据任一等位基因中是否存在I类或II类突变，将患者的CFTR基因型分为2组。第一组包括8例纯合子、8例等位基因未知者和8例复合杂合子患者，第二组包括11例纯合子和3例复合杂合子患者。对两组患者的囊性纤维化疾病严重程度标志物进行分析，如肺活量测定、施瓦赫曼 - 库尔奇茨基评分、体重指数（BMI）、汗液氯化物浓度、慢性铜绿假单胞菌感染、年度加重频率以及前一年需要住院治疗的严重加重情况。
在比较第一组和第二组患者时，观察到胰腺功能不全（83.3%对35.7%；P = 0.005）、慢性铜绿假单胞菌感染（58.3%对7.1%；P = 0.002）、咳嗽严重程度评分（1.7±1.1对0.9±1.5；P = 0.029）、前一年需要住院治疗的严重加重次数（0.9±1对0.3±0.8；P = 0.03）以及汗液氯化物水平（76.7±15.2对61±22.3；P = 0.02）存在显著差异。所有这些值在第一组患者中更高。第一组患者的平均BMI值（15.8±2.2对17.6±2.8；P = 0.03）更低。
在囊性纤维化患者中，I/II类CFTR突变与III - V类突变在疾病严重程度方面似乎存在差异。
