Rott H D
Eur J Respir Dis Suppl. 1983;127:1-4.
"Primary ciliary dyskinesia" is a group of various genetic diseases. A common property is various axonemal defects leading to ciliary dysfunction, which causes the typical clinical picture. Situs inversus occurs as a facultative symptom in half the cases. This combination is known as "Kartagener's syndrome", thus being a characteristic combination of symptoms, but no nosologic entity. Autosomal recessive inheritance has been proven in primary ciliary dyskinesia, but dominant new mutations can not as yet be excluded for sporadic cases.
“原发性纤毛运动障碍”是一组多种遗传性疾病。其共同特征是各种轴丝缺陷导致纤毛功能障碍，进而引发典型的临床症状。半数病例会出现内脏反位这一偶发症状。这种症状组合被称为“卡塔格内综合征”，因此它是一种具有特征性的症状组合，但并非一个独立的病种。原发性纤毛运动障碍已被证实为常染色体隐性遗传，但对于散发病例，尚不能排除显性新突变的可能性。
