Journal
CHEST
Volume 146, Issue 5, Pages 1176-1186Publisher
ELSEVIER
DOI: 10.1378/chest.13-1704
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Funding
- National Institutes of Health (NIH), Office of Rare Diseases Research, National Heart, Lung, and Blood Institute (NHLBI) [5US54HL096458-06]
- NIH, NHLBI [5R01HL071798]
- NIH, National Center for Advancing Translational Science (NCATS) [UL1TR000083]
- NIH/NCATS [UL1TR000423]
- Intramural Research Program of the NIH, National Institute of Allergy and Infectious Diseases
- NIH/NCATS Colorado Clinical and Translational Sciences Institute [UL1TR000154]
- Genetic Disorders of Mucociliary Clearance Consortium [U54HL096458]
- NIH Rare Diseases Clinical Research Network supported through collaboration between the NIH Office of Rare Diseases Research at the NCATS
- National Heart, Lung, and Blood Institute
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BACKGROUND: Motile cilia dysfunction causes primary ciliary dyskinesia (PCD), situs inversus totalis (SI), and a spectrum of laterality defects, yet the prevalence of laterality defects other than SI in PCD has not been prospectively studied. METHODS: In this prospective study, participants with suspected PCD were referred to our multisite consortium. We measured nasal nitric oxide (nNO) level, examined cilia with electron microscopy, and analyzed PCD-causing gene mutations. Situs was classified as (1) situs solitus (SS), (2) SI, or (3) situs ambiguus (SA), including heterotaxy. Participants with hallmark electron microscopic defects, biallelic gene mutations, or both were considered to have classic PCD. RESULTS: Of 767 participants (median age, 8.1 years, range, 0.1-58 years), classic PCD was defined in 305, including 143 (46.9%), 125 (41.0%), and 37 (12.1%) with SS, SI, and SA, respectively. A spectrum of laterality defects was identified with classic PCD, including 2.6% and 2.3% with SA plus complex or simple cardiac defects, respectively; 4.6% with SA but no cardiac defect; and 2.6% with an isolated possible laterality defect. Participants with SA and classic PCD had a higher prevalence of PCD-associated respiratory symptoms vs SA control participants (year-round wet cough, P<.001; year-round nasal congestion, P <.015; neonatal respiratory distress, P <.009; digital clubbing, P <.021) and lower nNO levels (median, 12 nL/min vs 252 nL/min; P<.001). CONCLUSIONS: At least 12.1% of patients with classic PCD have SA and laterality defects ranging from classic heterotaxy to subtle laterality defects. Specific clinical features of PCD and low nNO levels help to identify PCD in patients with laterality defects.
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