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The diagnosis of primary ciliary dyskinesia (PCD) is difficult and requires a combination of clinical features, nasal nitric oxide testing, cilia ultrastructural analysis by electron microscopy (EM), and genetics. A… Click to show full abstract
The diagnosis of primary ciliary dyskinesia (PCD) is difficult and requires a combination of clinical features, nasal nitric oxide testing, cilia ultrastructural analysis by electron microscopy (EM), and genetics. A recently described cytoplasmic ultrastructural change termed “ciliary inclusions” was reported to be diagnostic of PCD; however, no supporting evidence of PCD was provided. In this study, we sought to confirm, or refute, the diagnosis of PCD in subjects with “ciliary inclusions” on EM.
Keywords:
diagnosis primary;
primary ciliary;
diagnosis;
ciliary dyskinesia;
ciliary inclusions
Journal Title: Pediatric Pulmonology
Year Published: 2019
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Journal Title: Pediatric Pulmonology
Year Published: 2019
Link to full text (if available)
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recommendations!