Primary Ciliary Dyskinesia

Abstract

Primary ciliary dyskinesia describes diseases that directly result from congenital autosomal recessive defects in the cilia ultrastructure as differentiated from secondary defects, which are caused by infections, cigarette smoke, or pollutants. Structural alteration analysis using a scanning electron microscope shows the absence or reduction of the number of internal and/or external dynein arms, the absence of radial spokes, defects on the peripheral microtubules or absence of the central pair, complete ciliary aplasia, and orientation defects. Clinical characteristics depend on the age of the patient, from neonate to adulthood. When suspected, patients should be studied with a mucociliary clearance test or nasal fractional exhaled nitric oxide (FENO). Study of ciliary beat and the ciliary ultrastructure with the electronic microscope is reserved for negative-screening test patients. Therapy is orientated to prevent complications, particularly chronic lung damage and bronchiectasis. The respiratory approach must consider chest physiotherapy, nasal saline solution lavage, and use of antibiotics for sinus, ear, or lung exacerbations.