Primary ciliary dyskinesia: Aetiology, diagnosis and clinical management
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by abnormal function of motile cilia. The condition usually manifests in early life with neonatal distress, chronic sinopulmonary disease and organ laterality disorders. In adults, it is an underdiagnosed cause of bronchiectas...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-05-01
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| Series: | Clinical Medicine |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1470211825000375 |
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| Summary: | Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by abnormal function of motile cilia. The condition usually manifests in early life with neonatal distress, chronic sinopulmonary disease and organ laterality disorders. In adults, it is an underdiagnosed cause of bronchiectasis as well as subfertility. This review provides an overview of PCD for clinicians. We discuss its aetiology, its presentation, how it is diagnosed and its multidisciplinary clinical management. |
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| ISSN: | 1470-2118 |