Dept of Paediatrics, University of Pisa, Pisa, Italy.
Eur Respir J. 2010 Apr;35(4):787-94. doi: 10.1183/09031936.00051509. Epub 2009 Sep 24.
Few studies have evaluated the quality of life of patients with primary ciliary dyskinesia (PCD). We sought to determine the health impact of the disease as well as the unmet needs in a large group of patients. Questionnaires were either posted or e-mailed to known patients with PCD and published online. Questionnaires included the St George's Respiratory Questionnaire, the Medical Outcomes Study Short Form-36 and a questionnaire that we produced to obtain information on age of diagnosis, symptoms and likely PCD-specific problems of these patients. 78 subjects (96% of those invited) answered all the questionnaires. Patients were diagnosed at a mean age of 9.4 yrs. Progressive worsening of the disease was observed and adherence to physiotherapy was found to be poor, particularly in adolescents and adults. Patients with the highest treatment burden had a worse quality of life. Over time patients become progressively less interested in treating their disease and adherence to treatment modalities decreases. PCD is associated with a progressive and continuous impact on the physical and mental health of the patients. Earlier identification of the patients and better strategies aimed at improving compliance with care are urgently needed.
很少有研究评估原发性纤毛运动障碍（PCD）患者的生活质量。我们试图确定该疾病对患者健康的影响以及未满足的需求。我们向已知的 PCD 患者邮寄或通过电子邮件发送了问卷，并在网上发布。问卷包括圣乔治呼吸问卷、医疗结果研究简表-36 和我们制作的问卷，以获取有关这些患者的诊断年龄、症状和可能的 PCD 特定问题的信息。78 名受试者（邀请的 96%）回答了所有问卷。患者的平均诊断年龄为 9.4 岁。观察到疾病逐渐恶化，并且发现物理治疗的依从性很差，特别是在青少年和成年人中。治疗负担最重的患者生活质量更差。随着时间的推移，患者对治疗疾病的兴趣逐渐降低，对治疗方式的依从性也降低。PCD 会对患者的身心健康产生持续的、进行性的影响。迫切需要更早地识别患者，并制定更好的策略来提高对治疗的依从性。
