Ferkol Thomas, Leigh Margaret
Department of Pediatrics, Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Semin Perinatol. 2006 Dec;30(6):335-40. doi: 10.1053/j.semperi.2005.11.001.
Primary ciliary dyskinesia is an autosomal recessive genetic disease that results in impaired mucociliary clearance causing progressive involvement of the upper and lower respiratory tract, characterized by airway obstruction and recurrent infections of the lungs, middle ear and paranasal sinuses. Other clinical manifestations include situs inversus totalis and male infertility. Recently, neonatal respiratory distress has been found to be a common clinical presentation of patients with primary ciliary dyskinesia, indicating that this is an important symptom complex in early life for this condition. The diagnosis requires a high index of suspicion, but primary ciliary dyskinesia must be considered in any term neonate who develops respiratory distress or persistent hypoxemia and has situs inversus or an affected sibling. Moreover, further evaluation is warranted in children who had transient respiratory distress in newborn period and subsequently develop persistent cough or chronic otitis media.
原发性纤毛运动障碍是一种常染色体隐性遗传病，可导致黏液纤毛清除功能受损，引起上、下呼吸道进行性受累，其特征为气道阻塞以及肺部、中耳和鼻窦反复感染。其他临床表现包括完全性内脏转位和男性不育。最近发现，新生儿呼吸窘迫是原发性纤毛运动障碍患者常见的临床表现，这表明这是该疾病在生命早期的一种重要症状复合体。诊断需要高度怀疑，但对于任何出现呼吸窘迫或持续性低氧血症且有内脏转位或患病同胞的足月儿，都必须考虑原发性纤毛运动障碍。此外，对于在新生儿期有短暂呼吸窘迫且随后出现持续性咳嗽或慢性中耳炎的儿童，有必要进行进一步评估。
