Primary ciliary dyskinesia: mechanisms and management

Primary ciliary dyskinesia: mechanisms and management

Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia that is predominantly inherited in an autosomal-recessive fashion. It is associated with abnormal ciliary structure and/or function leading to chronic upper and lower respiratory tract infections, male infertility, and situs inversus. The estimated prevalence of primary ciliary dyskinesia is approximately one in ...

Diagnosis and management of primary ciliary dyskinesia

Primary Ciliary Dyskinesia Centre, Southampton Children’s Hospital, Southampton NHS Foundation Trust, Southampton, UK Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UK Molecular Medicine Unit and Birth Defects Research Centre, University College London (UCL) Institute of Child Health, London, UK Division of Services for Women and Ch...

Primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) is a rare genetic condition that affects the ciliary function of the respiratory tract, sperm tail, cilia of the embryonic node, and fallopian tube. The condition is characterized by impaired ciliary action, leading to recurrent lower-respiratory-tract infections, bronchiectasis, rhino-sinusitis, otitis media, impaired fertility in women, and infertility in men....

[Primary ciliary dyskinesia].

Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is caused by ultrastructural ciliary defects that lead to abnormal ciliary beating and, subsequently, mucociliary dysfunction. PCD presents clinically with bronchiectasis, sinusitis, and, in up to 50% of cases, situs inversus. The ultrastructural defects of cilia are diverse but include in many cases outer and/or inner dynein arms. Recent advances have shown tha...