Sandra Rovira-Amigo, Department of Paediatric Pulmonology, Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, Barcelona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid; Spain
Mª. Araceli Caballero-Rabasco, Paediatric Pulmonology and Allergy Unit, Hospital del Mar, Barcelona; Department of Medicine and Life Sciences, Universitat Pomepu Fabra, Barcelona; Spain
Silvia Castillo-Corullón, Department of Paediatric Pulmonology, Hospital Clínico de Valencia, Valencia, Spain
Noelia Baz-Redón, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid;; Vall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, Barcelona. Spain
Primary ciliary dyskinesia (PCD) is a rare genetic respiratory disease caused by a dysfunction of motile respiratory cilia and is characterized by laterality defects, neonatal respiratory distress, recurrent upper and lower airway tract infections, and infertility or subfertility. Diagnosis requires a combination of different tests, such as nasal nitric oxide measurement, high-speed video microscopy analysis, immunofluorescence, transmission electron microscopy for ultrastructural analysis, and genetic testing. It is an underdiagnosed disease, and prompt diagnosis improves its prognosis. The purpose of this article is to review the current knowledge regarding the clinical aspects, management, diagnosis, and treatment of PCD. The diagnosis of PCD is complex, but early diagnosis is important to improve the prognosis. In the near future, patients may benefit from specific treatments.
