Schidlow D V
Department of Pediatrics, Medical College of Pennsylvania, Philadelphia.
Ann Allergy. 1994 Dec;73(6):457-68; quiz 468-70. doi: 10.1016/b978-0-323-01909-5.50015-3.
The purpose of this review is to familiarize the reader with the genetic aspects, clinical manifestations, diagnostic techniques and management of the primary ciliary dyskinesia syndrome. Further, this article illustrates some unusual features of this syndrome and discusses some speculative hypotheses concerning its pathogenesis and clinical presentation.
The bibliography includes references in English as well as some references of historical interest in German. Both human and veterinary literature are quoted. Sources included computerized bibliographic searches of recent literature and reviews of literature.
Selection of papers was made based on their historic importance in the definition and characterization of the disease, and on reviews of large bodies of novel or interesting information. Some review papers were not included to avoid repetition.
Although the incidence of primary ciliary dyskinesia is low, the inclusion of this condition in the differential diagnosis of chronic and recurrent sinobronchial disease in children and older individuals is very common. Primary ciliary dyskinesia should be suspected in individuals who present chronic respiratory symptoms already in the neonatal period, develop profuse, chronic mucopurulent rhinorrhea, and chronic otitis media and sinusitis. Chronic cough, obstructive lung disease, and bronchorrhea associated with the aforementioned manifestations should also make clinicians suspect this syndrome. Male sterility is almost universally present and situs inversus is present in 50% of affected persons. The diagnosis of primary ciliary dyskinesia is clinical and is confirmed by studies of ciliary motility and ultrastructure of the respiratory mucosa. Management is directed to microbial suppression by frequent antibiotic administration, and to clearing of retained secretions.
The diagnosis of primary ciliary dyskinesia requires familiarity with the clinical picture and the specific techniques of identification. Although the basic mechanism of disease is known, the molecular genetics of primary ciliary dyskinesia and the causes for the phenotypic variability remain to be explained. Future research should be directed to the identification of the gene(s) responsible for the manifestations of the disease and to effective methods of activation, in vivo, of dysfunctional cilia.
本综述旨在使读者熟悉原发性纤毛运动障碍综合征的遗传学特征、临床表现、诊断技术及治疗方法。此外，本文还阐述了该综合征的一些不寻常特征，并探讨了一些关于其发病机制和临床表现的推测性假说。
参考文献包括英文文献以及一些具有历史意义的德文文献。同时引用了人类和兽医文献。资料来源包括对近期文献的计算机化书目检索以及文献综述。
论文的选择基于其在该疾病定义和特征描述方面的历史重要性，以及对大量新颖或有趣信息的综述。为避免重复，未纳入一些综述论文。
尽管原发性纤毛运动障碍的发病率较低，但在儿童和成人慢性及复发性鼻窦支气管疾病的鉴别诊断中，考虑这一病症却很常见。对于新生儿期即出现慢性呼吸道症状、有大量慢性黏液脓性鼻漏、慢性中耳炎和鼻窦炎的患者，应怀疑患有原发性纤毛运动障碍。伴有上述表现的慢性咳嗽、阻塞性肺病和支气管溢液也应使临床医生怀疑该综合征。男性不育几乎普遍存在，50%的患者存在脏器反位。原发性纤毛运动障碍的诊断依靠临床判断，并通过纤毛运动和呼吸道黏膜超微结构研究得以证实。治疗旨在通过频繁使用抗生素抑制微生物，并清除潴留的分泌物。
原发性纤毛运动障碍的诊断需要熟悉临床表现和特定的识别技术。尽管已知疾病的基本机制，但原发性纤毛运动障碍的分子遗传学以及表型变异的原因仍有待阐明。未来的研究应致力于确定导致该疾病表现的基因，并找到在体内激活功能失调纤毛的有效方法。
