Dept of Paediatrics, University of Padua, Padua, Italy.
Eur Respir J. 2009 Dec;34(6):1264-76. doi: 10.1183/09031936.00176608.
Primary ciliary dyskinesia (PCD) is associated with abnormal ciliary structure and function, which results in retention of mucus and bacteria in the respiratory tract, leading to chronic oto-sino-pulmonary disease, situs abnormalities and abnormal sperm motility. The diagnosis of PCD requires the presence of the characteristic clinical phenotype and either specific ultrastructural ciliary defects identified by transmission electron microscopy or evidence of abnormal ciliary function. Although the management of children affected with PCD remains uncertain and evidence is limited, it remains important to follow-up these patients with an adequate and shared care system in order to prevent future lung damage. This European Respiratory Society consensus statement on the management of children with PCD formulates recommendations regarding diagnostic and therapeutic approaches in order to permit a more accurate approach in these patients. Large well-designed randomised controlled trials, with clear description of patients, are required in order to improve these recommendations on diagnostic and treatment approaches in this disease.
原发性纤毛运动障碍(PCD)与纤毛结构和功能异常有关,这导致呼吸道内黏液和细菌的滞留,从而引起慢性耳-鼻-肺疾病、内脏转位和精子运动异常。PCD 的诊断需要存在特征性的临床表型,或者通过透射电子显微镜识别特定的超微结构纤毛缺陷,或者有异常的纤毛功能证据。尽管患有 PCD 的儿童的管理仍然不确定,并且证据有限,但仍然重要的是通过充分和共享的护理系统来对这些患者进行随访,以防止未来的肺部损伤。这份欧洲呼吸学会关于儿童 PCD 管理的共识声明制定了关于诊断和治疗方法的建议,以便在这些患者中采用更准确的方法。需要进行大型、设计良好的随机对照试验,并明确描述患者,以改善对这种疾病的诊断和治疗方法的建议。