Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

Adam J Shapiro, Maimoona A Zariwala, Thomas Ferkol, Stephanie D Davis, Scott D Sagel, Sharon D Dell, Margaret Rosenfeld, Kenneth N Olivier, Carlos Milla, Sam J Daniel, Adam J Kimple, Michele Manion, Michael R Knowles, Margaret W Leigh, Genetic Disorders of Mucociliary Clearance Consortium, Lou Epperson, Jane Quante, Carol Kopecky, Shelley Mann, Donna Parker, Jacquelyn Zirbes, Robert Johnson, Melody Mikki, Hoon Chang, Rosalie Helfrich, Adam J Shapiro, Maimoona A Zariwala, Thomas Ferkol, Stephanie D Davis, Scott D Sagel, Sharon D Dell, Margaret Rosenfeld, Kenneth N Olivier, Carlos Milla, Sam J Daniel, Adam J Kimple, Michele Manion, Michael R Knowles, Margaret W Leigh, Genetic Disorders of Mucociliary Clearance Consortium, Lou Epperson, Jane Quante, Carol Kopecky, Shelley Mann, Donna Parker, Jacquelyn Zirbes, Robert Johnson, Melody Mikki, Hoon Chang, Rosalie Helfrich

Abstract

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, rare lung disease resulting in chronic oto-sino-pulmonary disease in both children and adults. Many physicians incorrectly diagnose PCD or eliminate PCD from their differential diagnosis due to inexperience with diagnostic testing methods. Thus far, all therapies used for PCD are unproven through large clinical trials. This review article outlines consensus recommendations from PCD physicians in North America who have been engaged in a PCD centered research consortium for the last 10 years. These recommendations have been adopted by the governing board of the PCD Foundation to provide guidance for PCD clinical centers for diagnostic testing, monitoring, and appropriate short and long-term therapeutics in PCD patients.

Keywords: PCD Foundation; PCD, kartagener; consensus statement; primary ciliary dyskinesia.

© 2015 The Authors. Pediatric Pulmonology Published by Wiley Periodicals, Inc.

Figures

Figure 1
Figure 1
Examples of various laterality defects on radiology imaging in PCD. Different situs arrangements found in PCD, including (A) a participant with situs solitus, or normal organ arrangement, with left cardiac apex, left‐sided stomach bubble, and right‐sided liver; (B) a patient with situs inversus totalis (SIT), or mirror‐image organ arrangement, with right cardiac apex, right‐sided stomach bubble, and left‐sided liver; (C) a patient with situs ambiguus (SA), with left cardiac apex, right‐sided stomach bubble, right‐sided liver, and intestinal malrotation; This patient also had right‐sided polysplenia visualized on a CT scan. C, cardiac apex; S, stomach; L, liver; M, intestinal malrotation. Reproduced with permission from CHEST.19
Figure 2
Figure 2
Electron microscopy findings in primary ciliary dyskinesia. Diagnostic ciliary electron microscopy findings in primary ciliary dyskinesia. Normal ciliary ultrastructure (A), Outer and inner dynein arm defect (B), Outer dynein arm defect (C), Inner dynein arm defect alone* (D), Inner dynein arm defect with microtubule disorganization (E). * Inner dynein arm defects alone are quite rare as a cause of PCD and usually due to secondary artifact. Adapted from Leigh et al.164
Figure 3
Figure 3
Nasal nitric oxide in primary ciliary dyskinesia and healthy controls. Scatter plot of nasal nitric oxide (nNO) values (linear scale; nl/min) versus age for individuals with primary ciliary dyskinesia (PCD, with cystic fibrosis ruled out) and healthy control subjects with nNO cutoff of 77 nl/min. All nNO values from healthy control subjects (open circles) were well above the cutoff of 77 nl/min and most of the nNO measurements in subjects with PCD and ciliary ultrastructure defects (open triangles, single measurements; solid triangles, repeated measurements) were below the cutoff. Findings are similar in disease controls, including asthma and COPD (data not shown). The three solid triangles above the cutoff are repeated measurements in the same individual with PCD. Reproduced with permission from the American Thoracic Society. Copyright © 2015 American Thoracic Society. The Annals of the American Thoracic Society is an official journal of the American Thoracic Society.18

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