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Genetics, diagnosis and future treatment strategies for primary ciliary dyskinesia

Introduction: Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder resulting in chronic oto-sino-pulmonary disease. While PCD is estimated to occur in 1 in 20,000 individuals, fewer than 1000 patients in the USA have a well-established diagnosis. Areas covered: We provide an overview of the clinical manifestations of PCD, describe the evolution of diagnostic methods and critique the literature on management of PCD. Expert opinion: Although interest in clinical studies in non-cystic fibrosis bronchiectasis has increased in recent years, some of whom enroll patients with PCD, the literature regarding therapy for PCD as a distinct entity is lacking, as the numbers are small, and there have been no subanalyses published. However, with improved screening and diagnostic methods, the development of clinical and research consortiums, and actively enrolling registries of PCD patients, the environment is conducive to perform longitudinal studies of disease course and therapeutic studies to alter that course.