Kumar Aneeta, Walker Woolf T
Faculty of Medicine, University of Southampton, Southampton, UK.
Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Oxf Med Case Reports. 2020 Feb 28;2020(2):omz135. doi: 10.1093/omcr/omz135. eCollection 2020 Feb.
Primary ciliary dyskinesia (PCD) is an autosomal recessive condition characterized by dysmotile cilia. Typically associated with defects in the cilia structure, it results in impaired mucociliary clearance of pathogens from the lungs and sinuses. Consequently, patients suffer from recurrent sinopulmonary and middle ear infections. We report on the management of a 5-year-old boy who presented with increased work of breathing, fever and crepitations, with an existing diagnosis of PCD with situs inversus totalis. Chest X-ray imaging revealed right lower lobe collapse. He was managed with intensive physiotherapy, nebulized mucolytic agents and antibiotics. However, due to a poor response, he underwent flexible bronchoscopy, which allowed removal of a mucus plug and subsequent re-expansion of his collapsed lobe. Although there is limited evidence for the management of PCD, here we discuss the accepted strategies for its management, based on expert opinion and guidelines for other suppurative lung diseases.
原发性纤毛运动障碍（PCD）是一种常染色体隐性遗传病，其特征为纤毛运动功能障碍。该病通常与纤毛结构缺陷有关，可导致肺部和鼻窦对病原体的黏液纤毛清除功能受损。因此，患者会反复出现鼻窦肺部和中耳感染。我们报告了一名5岁男孩的治疗情况，该男孩因呼吸费力加重、发热和捻发音就诊，此前已诊断为PCD并伴有完全性内脏转位。胸部X线成像显示右下叶肺不张。我们对他进行了强化物理治疗、雾化黏液溶解剂和抗生素治疗。然而，由于效果不佳，他接受了可弯曲支气管镜检查，通过该检查移除了黏液栓，随后其肺不张的肺叶重新复张。尽管关于PCD治疗的证据有限，但在此我们根据专家意见和其他化脓性肺部疾病的指南，讨论了PCD治疗的公认策略。
