Primary ciliary dyskinesia: overlooked and undertreated in children.

摘要: Primary ciliary dyskinesia (PCD) is a multi-organ disorder associated with chronic oto-sino-pulmonary disease, neonatal respiratory distress, situs abnormalities and reduced fertility. Repeated tract infections leads to the almost universal development of bronchiectasis. These clinical manifestations are consequence poorly functioning motile cilia. However, confirming diagnosis quite difficult often delayed, so true incidence PCD may be significantly higher than current estimates. Nasal nitric oxide has been earmarked as useful screening tool for identifying patients, but its use limited in pre-school-aged children. Due rarity PCD, evidence base management somewhat limited, treatment regimens extrapolated from other suppurative lung disorders, like cystic fibrosis.