Teknos T N, Metson R, Chasse T, Balercia G, Dickersin G R
Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, USA.
Otolaryngol Head Neck Surg. 1997 Jan;116(1):68-74. doi: 10.1016/S0194-59989770354-1.
Kartagener's syndrome is characterized by the clinical triad of bronchitis, sinusitis, and situs inversus. An inherited ultrastructural defect results in ciliary immotility with impaired mucociliary clearance throughout the pulmonary and sinonasal passages. Until recently, the diagnosis of Kartagener's syndrome was made on the basis of a qualitative decrease in the number of dynein arms and subjective abnormalities in other ciliary components on electron microscopy. New investigations, however, have defined objective methods of diagnosis on the basis of quantitative ciliary measurements. The use of these methods in a series of 17 cases of suspected ciliary immotility resulted in a reversal of diagnosis in 6 cases (35%) that previously were considered normal. These results suggest that the prevalence of inherited ciliary dyskinesias is much greater than currently is recognized. The early identification and treatment of individuals with these disorders could lead to a reduction in irreversible sinus and pulmonary pathologic conditions with improved long-term survival.
卡塔格内综合征的特征为支气管炎、鼻窦炎和内脏转位三联征。一种遗传性超微结构缺陷导致纤毛运动障碍，整个肺和鼻窦通道的黏液纤毛清除功能受损。直到最近，卡塔格内综合征的诊断还是基于电子显微镜下动力蛋白臂数量的定性减少以及其他纤毛成分的主观异常。然而，新的研究已经确定了基于纤毛定量测量的客观诊断方法。在一系列17例疑似纤毛运动障碍的病例中使用这些方法，导致6例（35%）先前被认为正常的病例诊断结果发生了逆转。这些结果表明，遗传性纤毛运动障碍的患病率比目前公认的要高得多。对患有这些疾病的个体进行早期识别和治疗，可能会减少不可逆的鼻窦和肺部病理状况，提高长期生存率。
