Diagnosis and New Insights in Primary Ciliary Dyskinesia

Dear Colleagues, 

Primary Ciliary Dyskinesia (PCD) is a rare respiratory disease characterized by an alteration in ciliary function, patients exhibiting classic symptoms such as neonatal respiratory distress, recurrent airway infections, chronic rhinitis, otitis media and sinusitis, laterality defects, and male infertility. Diagnosis is complex with no currently existing gold standard technique. Studying ciliary function and structure combined with genetics and compatible clinical symptoms are all required in order to arrive to a conclusive diagnosis. The management of PCD patients is very challenging, and an early diagnosis is vital in order for a better prognosis.

In this Special Issue, we look for original papers and reviews based on the early and accurate diagnosis, treatment guidelines, and experimental gene therapy in PCD, including, but not limited to, the following topics: (i) advances in PCD diagnostic techniques, including high-speed video microscopy, electron microscopy, immunofluorescence analysis, and potential serological determinations; (ii) new methods and analysis models for the objective determination of the ciliary beat that allows a rapid diagnosis of the disease;  (iii) advances in genetics of PCD, including new mutations and correlations regarding the genotype–phenotype of this rare disease;  (iv) airway epithelial cell culture advances;  (v) progress in the management of adult and children PCD patients according to their diagnosis; (vi) new therapeutic approaches for PCD patients; (vii) gene therapy in PCD.

Dr. Miguel Armengot-Carceller
Dr. Ana Reula
Guest Editors

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