Department of Pathophysiology and Transplantation, University of Milan and Unit of Bronchopneumology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35 -, 20122, Milan, Italy.
Department of Human Pathology and Oncology, University of Siena and Unit of Pathological Anatomy, Policlinico Le Scotte, Strada delle Scotte 6, Siena, Italy.
BMC Pediatr. 2020 Apr 13;20(1):158. doi: 10.1186/s12887-020-02062-4.
Recurrent bacterial infections of the respiratory tract are one of the major clinical features of the primary ciliary dyskinesia (PCD), a rare genetic disease due to malfunctioning of motile cilia. Chronic infections and persistent inflammation of the respiratory system result in progressive lung disease. Aim of the study was to highlight the main factors associated with clinical, functional and anatomical deterioration in PCD patients.
We retrospectively analyzed data from 58 patients with PCD, 37 adults and 21 children. The demographic and clinical data, forced expiratory volume at 1 s (FEV) and forced vital capacity (FVC), sputum microbiology and imaging results (chest CT scores-modified Bhalla) were recorded. Patients were stratified according to the number of exacerbations (< 2/year vs ≥ 2/year) and chronic Pseudomonas aeruginosa (PA) colonization. The possible correlations between lung function and chest CT scores were assessed; we also evaluated the correlation between these parameters and the severity scores for bronchiectasis (BSI, FACED and e-FACED).
Chest CT scores showed a significant correlation with FEV (p = 0.0002), age (p < 0.0001), BMI (p = 0.0002) and number of lung lobes involved (p < 0.0001). PA colonization had an overall prevalence of 32.6%: no significant difference in FEV between PA colonized and non-colonized patients was found (p = 0.70), while chest CT score was significantly worse in chronic PA colonized patients (p = 0.009). Patients with a high number of exacerbation (≥ 2/year) were older (p = 0.01), had lower FEV (p = 0.03), greater number of lobes involved (p < 0.001) and worse CT score than patients with low number of exacerbations (p = 0.001); they also had higher prevalence of PA chronic bronchial infection (33.3% versus 13.6%, p = 0.10). Multivariable linear regression analyses adjusted for gender, age and BMI showed positive associations between PA colonization and number of exacerbations with severity of disease (number of lobes involved, CT score, BSI, FACED, and e-FACED).
In our PCD population the number of exacerbations (≥ 2/year) and PA colonization were the two most relevant factors associated with severity of disease.
复发性呼吸道细菌感染是原发性纤毛运动障碍（PCD）的主要临床特征之一，这是一种罕见的遗传性疾病，由于运动纤毛功能障碍引起。慢性感染和呼吸系统持续炎症导致进行性肺病。本研究的目的是强调与 PCD 患者临床、功能和解剖恶化相关的主要因素。
我们回顾性分析了 58 例 PCD 患者的数据，其中 37 例为成人，21 例为儿童。记录了人口统计学和临床数据、第 1 秒用力呼气量（FEV）和用力肺活量（FVC）、痰微生物学和影像学结果（胸部 CT 评分-改良 Bhalla）。根据发作次数（<2/年与≥2/年）和慢性铜绿假单胞菌（PA）定植情况对患者进行分层。评估了肺功能与胸部 CT 评分之间的可能相关性；我们还评估了这些参数与支气管扩张严重程度评分（BSI、FACED 和 e-FACED）之间的相关性。
胸部 CT 评分与 FEV（p=0.0002）、年龄（p<0.0001）、BMI（p=0.0002）和受累肺叶数（p<0.0001）呈显著相关。PA 定植的总体患病率为 32.6%：PA 定植和非定植患者的 FEV 无显著差异（p=0.70），而慢性 PA 定植患者的胸部 CT 评分明显更差（p=0.009）。发作次数多（≥2/年）的患者年龄更大（p=0.01），FEV 更低（p=0.03），受累肺叶数更多（p<0.001），CT 评分更差（p=0.001），慢性 PA 支气管感染的患病率也更高（33.3%与 13.6%，p=0.10）。多变量线性回归分析调整了性别、年龄和 BMI，结果显示 PA 定植和发作次数与疾病严重程度之间存在正相关（受累肺叶数、CT 评分、BSI、FACED 和 e-FACED）。
在我们的 PCD 人群中，发作次数（≥2/年）和 PA 定植是与疾病严重程度最相关的两个因素。
