摘要
原发性纤毛运动障碍(Primary ciliary dyskinesia, PCD),是一种罕见的遗传异质性疾病,是由基因突变导致运动纤毛结构和(或)功能、数量异常,从而引起相应组织器官功能障碍而引起一系列临床表现的一组疾病。由于运动纤毛主要分布于呼吸道,故以呼吸系统受累为主要表现。该病起病年龄小,常造成儿童慢性,反复呼吸道感染,进而形成支气管扩张。儿童PCD因临床表现与儿科常见呼吸系统疾病高度重叠,因此易漏诊及误诊,大部分患儿确诊前有多次因呼吸道症状就诊史,部分患儿明确诊断时已形成永久性肺损伤。因此,早期诊断、早期干预治疗十分重要。故本文旨在提高临床医生对本病的认识,对该病的流行病学、临床表现、诊断及治疗进行综述。
Primary ciliary dyskinesia (PCD) is a rare genetic heterogeneous disease, which is a group of dis-eases caused by genetic mutations that cause abnormal cilia structure and/or function and quantity, thereby causing dysfunction of tissues and organs containing cilia and causing a series of clinical manifestations. Since cilia are mainly distributed in the respiratory tract, respiratory system in-volvement is the main manifestation. The disease begins at a young age and often causes chronic, recurrent respiratory infections in children, which in turn form bronchiectasis. Due to the high overlap of clinical phenotype and common respiratory diseases in pediatrics, PCD in children is easy to miss and misdiagnose, most children have a history of multiple visits due to respiratory symp-toms before diagnosis, and some children have caused permanent lung damage when the diagnosis is confirmed. Therefore, early diagnosis and early intervention are very important. Therefore, this article aims to improve clinicians’ understanding of the disease and review the epidemiology, pathogenesis, clinical manifestations, diagnosis and treatment of the disease.
出处
《临床医学进展》
2023年第5期8627-8633,共7页
Advances in Clinical Medicine
