Primary Ciliary Dyskinesia - 10/08/16

Doi : 10.1016/j.ccm.2016.04.008

Michael R. Knowles, MD ^a,^⁎ , Maimoona Zariwala, PhD ^b, Margaret Leigh, MD ^c
^a Department of Medicine, Marsico Lung Institute/UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA
^b Department of Pathology and Laboratory Medicine, Marsico Lung Institute/UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA
^c Department of Pediatrics, Marsico Lung Institute/UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA

^∗Corresponding author. 7214 Marsico Hall, Chapel Hill, NC 27599-7248.7214 Marsico HallChapel HillNC27599-7248

Résumé

Primary ciliary dyskinesia (PCD) is a recessive genetically heterogeneous disorder of motile cilia with chronic otosinopulmonary disease and organ laterality defects in ∼50% of cases. The prevalence of PCD is difficult to determine. Recent diagnostic advances through measurement of nasal nitric oxide and genetic testing has allowed rigorous diagnoses and determination of a robust clinical phenotype, which includes neonatal respiratory distress, daily nasal congestion, and wet cough starting early in life, along with organ laterality defects. There is early onset of lung disease in PCD with abnormal airflow mechanics and radiographic abnormalities detected in infancy and early childhood.

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Keywords : Primary ciliary dyskinesia, Kartagener syndrome, Nasal nitric oxide, Genetic testing

Plan

Key points

Introduction

Structure and function of motile cilia

Ultrastructural and functional diagnostic tests

Genetic testing for diagnosis

Early features of clinical disease

Lung disease

Nonpulmonary manifestations

Management of lung disease

Management of otolaryngologic manifestations

Future directions

Disclosures: None relevant to this publication.

Grant Support: National Institutes of Health (NIH), number U54HL096458, 5R01HL071798; the Genetic Disorders of Mucociliary Clearance (U54HL096458) is a part of the National Center for Advancing Translational Sciences (NCATS) Rare Diseases Clinical Research Network (RDCRN). RDCRN is an initiative of the Office of Rare Diseases Research (ORDR). NCATS funded through a collaboration between NCATS and NHLBI; CTSA NIH/NCATS UNC ULTR000083; CTSA NIH/NCATS Colorado UL1TR000154; Intramural Research Program of NIH/NIAID.