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Primary Ciliary Dyskinesia Workup

  • Author: Girish D Sharma, MD, FCCP, FAAP; Chief Editor: Michael R Bye, MD  more...
Updated: Apr 14, 2016

Laboratory Studies

Eleven genes with disease-causing mutations have been identified. These include 5 genes coding for outer dynein arm proteins (DNAI1, DNAI2, DNAH5, DNAH11, TXNDC3), 2 genes for radial spoke proteins (RSPH4A, RSPH9), and 4 genes for cytoplasmic proteins involved in dynein arm assembly (c14orf104/KTU, LRRC50) and in RPGR and OFD1.

Mutations in DNAI1 and DNAH5 have been detected in 38% of patients with primary ciliary dyskinesia. Commercial testing is available for all mutations in these 2 genes. A recently available commercial test that analyzes 11 primary ciliary dyskinesia genes is estimated to detect approximately 56% of patients with primary ciliary dyskinesia. A diagnostic yield of 69% has been reported by combining ciliary biopsy and molecular genetics.[10]


Imaging Studies

See the list below:

  • Chest roentgenography may reveal changes due to chronic bronchitis and pneumonia. Dextrocardia, if present, is observed on chest roentgenographs. Bronchiectasis may be observed with recurrent lower respiratory infections.
  • Direct video cinematography or oscillography is used to analyze ciliary beat frequency and waveform.
  • Digital high-speed video (DHSV) imaging allows evaluation of ciliary beat pattern in 3 different planes in slow motion or frame-by-frame. Using DHSV imaging, patients with PCD can be classified into 3 distinct groups on the basis of ciliary beat pattern (see Pathophysiology).
  • Ciliary beat pattern analysis is a more sensitive and specific test for PCD with positive predictive value. [21]
  • Santamaria et al have studied structural lung disease in patients with PCD using a modified Brody composite high-resolution CT (HRCT) scoring system to evaluate the severity and distribution of lung abnormalities; they found that bronchiectasis, peribronchial thickening, and peripheral mucous plugging were the most common changes, followed by central mucus plugging and parenchymal abnormalities. [22]

Other Tests

See the list below:

  • Mucociliary clearance studies measure the perception of sweetness after saccharin is placed on the anterior portion of the inferior turbinate. A delayed or absent response suggests impaired mucociliary clearance.
  • Nasal nitric oxide measurements have been tried to screen children with PCD. [23, 24] Extremely low levels of nitric oxide (less than 100 nL/min) may be suggestive. [25] A portable nitric oxide analyzer has been validated for screening of PCD. [26]
  • Pulmonary function testing has shown reduced values for FEV1. [7, 27] Longitudinal studies have shown a high degree of variation in the course of lung function after diagnosis that was not related to either age or lung function level at the time of diagnosis. [27]


Bronchoscopy reveals mucosal inflammation and mucopurulent secretions. It can also be used to confirm the reversal of bronchial anatomy in those patients with situs inversus.

Examination of the ciliary ultrastructure by electron microscopy in a nasal or bronchial ciliary biopsy sample can be used as a diagnostic test.

Nasal biopsy (brush or curettage) samples are obtained from inferior surface of turbinates. Electron microscopy reveals the abnormalities in the cilia.

Bronchial brush biopsy demonstrates ciliary ultrastructure abnormalities using an electron microscope. Due to the varying orientation of the cilia in a biopsy specimen and resultant technical difficulties in the full analysis of cilila, a quantitative method includes assessing axonemal defects in less than perfectly oriented cilia, with dynein arms being assessed only in those cilia in which these small structures can be discerned.

A review of quantitative transmission electron microscopy in 1182 patients referred for ciliary structure analysis reported confirmation of diagnosis of PCD in 242 (20%) cases.[28] In addition to describing an algorithm including screening tests such as exhaled nasal nitric oxide, saccharine test, light microscopy, and electron microscopy, the authors describe the use of transmission electron microscopy using a rapid quantitative method. However, electron microscopy does not always exclude the diagnosis of PCD.

Contributor Information and Disclosures

Girish D Sharma, MD, FCCP, FAAP Professor of Pediatrics, Rush Medical College; Director, Section of Pediatric Pulmonology and Rush Cystic Fibrosis Center, Rush Children's Hospital, Rush University Medical Center

Girish D Sharma, MD, FCCP, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, American Thoracic Society, Royal College of Physicians of Ireland

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Michael R Bye, MD Professor of Clinical Pediatrics, State University of New York at Buffalo School of Medicine; Attending Physician, Pediatric Pulmonary Division, Women's and Children's Hospital of Buffalo

Michael R Bye, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, American Thoracic Society

Disclosure: Nothing to disclose.

Additional Contributors

Susanna A McColley, MD Professor of Pediatrics, Northwestern University, The Feinberg School of Medicine; Director of Cystic Fibrosis Center, Head, Division of Pulmonary Medicine, Children's Memorial Medical Center of Chicago

Susanna A McColley, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Chest Physicians, American Sleep Disorders Association, American Thoracic Society

Disclosure: Received honoraria from Genentech for speaking and teaching; Received honoraria from Genentech for consulting; Partner received consulting fee from Boston Scientific for consulting; Received honoraria from Gilead for speaking and teaching; Received consulting fee from Caremark for consulting; Received honoraria from Vertex Pharmaceuticals for speaking and teaching.


Heidi Connolly, MD Associate Professor of Pediatrics and Psychiatry, University of Rochester School of Medicine and Dentistry; Director, Pediatric Sleep Medicine Services, Strong Sleep Disorders Center

Heidi Connolly, MD is a member of the following medical societies: American Academy of Pediatrics, American Thoracic Society, and Society of Critical Care Medicine

Disclosure: Nothing to disclose.

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Diagram showing the cross-section of normal cilia showing its ultrastructure. Important components are labeled.
Ciliary ultrastructure, Left, Normal cilium from a healthy individual in which both inner and outer dynein arms can clearly identified. Right, the absence of outer and inner dynein arms in a patient with primary ciliary dyskinesia. Image courtesy of J. Carson, PhD, University of North Carolina.
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