Primary ciliary dyskinesia: recent advances in pathogenesis, diagnosis and treatment.

作者: Hauw Lie , Thomas Ferkol

DOI: 10.2165/00003495-200767130-00006

关键词:

摘要: Primary ciliary dyskinesia is a genetic disorder causing dysfunctional motility of cilia and impaired mucociliary clearance, resulting in myriad clinical manifestations including recurrent sinopulmonary disease, laterality defects infertility. The heterogenous presentation primary the limitations transmission electron microscopy to assess ultrastructural within cilium often delay diagnosis. Recent advances understanding basic biology function have led potential diagnostic alternatives, beat analysis nasal nitric oxide measurements. Moreover, identification disease-causing mutations could lead development comprehensive testing that may overcome many current limitations. Although been recognised for over century, there are few studies examining treatments standards care yet be established. Multicentre collaborative efforts established North America Europe, which should help develop standardised approaches diagnosis treatment dyskinesia.

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