Gierich J, Otto J, Walt H, Dombi V H, Spycher M A
Kinderklinik für Atemwegserkrankungen und Allergien, Fachkliniken Wangen, Wangen im Allgäu.
Pneumologie. 1997 Dec;51(12):1127-32.
In adults suffering from Kartagener's syndrome-which is found in 50% of patients with primary ciliary dyskinesia (PCD)-bronchiectasis is still one of three typical clinical features. In this condition it is caused by chronic bacterial inflammation as a result of impaired mucociliary clearance in congenital ciliary dysfunction. Little information is available on the incidence, age-related development and prophylactic therapy of bronchiectasis in children suffering from PCD.
CASE REPORT/RESULTS: We describe the case of a 2-year old boy with clinical features of Kartagener's syndrome who showed impaired ciliary motility and typical ultrastructural defects of PCD. Bronchiectasis was excluded by bronchography.
The diagnosis of PCD implies disturbed ciliary motility and abnormal ultrastructure of the cilia. In 50% of cases PCD is associated with situs inversus and is then referred to as kartagener's syndrome, whereas situs inversus itself does not define Kartagener's syndrome. Bronchiectasis is not necessarily present in children with PCD. Physiotherapy, inhalations, vaccinations and early antibiotic treatment may be of prophylactic value in preventing bronchiectasis. Early start of the life-long treatment depends on early diagnosis which should be based on well-defined criteria.
在患有卡塔格内综合征（原发性纤毛运动障碍患者中有50%存在该综合征）的成人中，支气管扩张仍是三个典型临床特征之一。在这种情况下，它是由先天性纤毛功能障碍导致的黏液纤毛清除功能受损引起的慢性细菌炎症所致。关于原发性纤毛运动障碍患儿支气管扩张的发病率、年龄相关发展及预防性治疗的信息很少。
病例报告/结果：我们描述了一名2岁男孩的病例，其具有卡塔格内综合征的临床特征，显示纤毛运动功能受损及原发性纤毛运动障碍典型的超微结构缺陷。支气管造影排除了支气管扩张。
原发性纤毛运动障碍的诊断意味着纤毛运动功能紊乱及纤毛超微结构异常。在50%的病例中，原发性纤毛运动障碍与内脏转位有关，此时被称为卡塔格内综合征，而内脏转位本身并不定义卡塔格内综合征。原发性纤毛运动障碍患儿不一定存在支气管扩张。物理治疗、吸入治疗、疫苗接种及早期抗生素治疗在预防支气管扩张方面可能具有预防价值。终身治疗的早期开始取决于早期诊断，早期诊断应基于明确的标准。
