Holzmann D, Felix H
Department of Otorhinolaryngology Head and Neck Surgery, University Hospital, Zurich, Switzerland.
Eur J Pediatr. 2000 Nov;159(11):857-60. doi: 10.1007/pl00008354.
Primary ciliary dyskinesia (PCD) is a clinically heterogeneous disease. In most cases, its clinical manifestation in children is rather unspecific: chronic infectious rhinnosinusitis, recurrent acute infections of the upper and lower airways and chronic otitis media with effusion. Between 1990 and 1998 ten patients were diagnosed as PCD. Nine presented a neonatal respiratory distress syndrome (NRDS) of unknown cause. Six of these patients were newborns treated in the intensive care unit, one of them needed mechanical ventilation. The few cases already described in the literature and the experience with our patients support the possible association of NRDS with PCD.
Neonatal respiratory distress syndrome of unknown cause should be added to the list of clinical presentation of primary ciliary dyskinesia, and if further signs and symptoms are indicative of primary ciliary dyskinesia, investigations to explore this disorder are warranted.
原发性纤毛运动障碍（PCD）是一种临床异质性疾病。在大多数情况下，其在儿童中的临床表现相当不具特异性：慢性感染性鼻鼻窦炎、上呼吸道和下呼吸道反复急性感染以及慢性渗出性中耳炎。1990年至1998年间，有10例患者被诊断为PCD。其中9例出现病因不明的新生儿呼吸窘迫综合征（NRDS）。这些患者中有6例是在重症监护病房接受治疗的新生儿，其中1例需要机械通气。文献中已描述的少数病例以及我们患者的经验支持NRDS与PCD可能存在关联。
病因不明的新生儿呼吸窘迫综合征应被列入原发性纤毛运动障碍的临床表现清单中，如果有进一步的体征和症状提示原发性纤毛运动障碍，则有必要进行检查以探究这种疾病。
