卡特金纳综合征三例报告及文献复习

目的提高对卡特金纳综合征的临床认识,以提高对原发性纤毛运动障碍（PCD）的诊断水平。方法对3例卡特金纳综合征患者临床症状、体征、肺部影像学表现及家族史进行综合分析,并复习相关文献。结果 3例患者均因自幼年其反复发作的上、下呼吸道感染而引起临床医生重视,其中病例3幼年时主要表现为＂鼻窦炎＂症状,成年后才出现明显的肺部感染表现。进一步检查发现3例患者均同时合并慢性鼻窦炎,支气管扩张及全内脏转位。追问患者家族史发现病例2及病例3的父母均为近亲结婚。取病例1的支气管黏膜组织在电子显微镜下观察纤毛超微结构发现纤毛内动力臂缺失。3例患者经祛痰、抗感染等治疗后症状好转。结论对于幼年起反复出现上下呼吸道感染症状患者,不论有无内脏转位,应考虑存在原发性纤毛运动障碍可能。

Kartagener Syndrome:Three Cases Report and Literature Review

Objective To improve the knowledge of kartagener syndrome and the understanding of primary ciliary dyskinesia(PCD).Methods Three cases of Kartagener syndrome were reported and analyzed on clinical manifestations,symptoms,imaging appearances of chest,and family history.Meanwhile the related literatures were reviewed.Results The three patients deserved special recognition because of recurrent upper and lower respiratory tract infection.Of them,the third case showed mainly the symptoms of nasosinusitis at an early age,and the distinct pulmonary symptoms appeared in his adulthood.Further examination showed that the triad of chronic sinusitis,bronchiectasis,and situs inversus is present in all cases.The parents of the two cases were consanguineous marriaged.Examination of the bronchial mucosal biopsy specimen of the first case under transmission electron microscopy showed cilia with the absence of inner dynein arms.The three cases got improvement after treatment of anti-infection and expectorant.Conclusion For patients with recurring infection in the upper and lower respiratory tract from infancy,the possibility of PCD should be considered no matter whether a situs inversus exists.