Genetics, diagnosis and future treatment strategies for primary ciliary dyskinesia

Abstract

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.

Keywords:

• bronchiectasis
• genotype
• Kartagener syndrome
• nasal nitric oxide
• phenotype
• primary ciliary dyskinesia

Acknowledgements

The authors thank MR Knowles and M Zariwala for their guidance and support, all of the GDMCC investigators and study coordinators for their hard work and the PCD patients for their participation.

Declaration of interest

PG Noone has participated in industry sponsored studies for Gilead, Insmed and Aradigm Pharmaceuticals. MLA Daniels is supported by NIH National Heart, Lung and Blood Institute grants 1K12HL119998-01 and Office of Rare Diseases Research U54HL096458. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending or royalties. The Genetic Disorders of Mucociliary Clearance Consortium (U54HL096458) is part of the National Institutes of Health (NIH) Rare Disease Clinical Research Network (RDCRN), supported through collaboration between the NIH Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Science (NCATS), and the National Heart, Lung & Blood Institute (NHLBI). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Notes

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