Primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD) is a rare genetic respiratory disease caused by a dysfunction of motile respiratory cilia and is characterized by laterality defects, neonatal respiratory distress, recurrent upper and lower airway tract infections, and infertility or subfertility. Diagnosis requires...
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| Language: | English |
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Publicaciones Permanyer
2025-01-01
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| Series: | Barcelona Respiratory Network Reviews |
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| Online Access: | https://www.brnreviews.com/frame_eng.php?id=267 |
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| author | Sandra Rovira-Amigo Mª. Araceli Caballero-Rabasco Silvia Castillo-Corullón Noelia Baz-Redón |
| author_facet | Sandra Rovira-Amigo Mª. Araceli Caballero-Rabasco Silvia Castillo-Corullón Noelia Baz-Redón |
| author_sort | Sandra Rovira-Amigo |
| collection | DOAJ |
| description | Primary ciliary dyskinesia (PCD) is a rare genetic respiratory disease caused by a dysfunction of motile respiratory cilia and is characterized by laterality defects, neonatal respiratory distress, recurrent upper and lower airway tract infections, and infertility or subfertility. Diagnosis requires a combination of different tests, such as nasal nitric oxide measurement, high-speed video microscopy analysis, immunofluorescence, transmission electron microscopy for ultrastructural analysis, and genetic testing. It is an underdiagnosed disease, and prompt diagnosis improves its prognosis. The purpose of this article is to review the current knowledge regarding the clinical aspects, management, diagnosis, and treatment of PCD. The diagnosis of PCD is complex, but early diagnosis is important to improve the prognosis. In the near future, patients may benefit from specific treatments.
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| format | Article |
| id | doaj-art-0b34c500045e4da382f7f3d12d88a6f8 |
| institution | DOAJ |
| issn | 2462-3172 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Publicaciones Permanyer |
| record_format | Article |
| series | Barcelona Respiratory Network Reviews |
| spelling | doaj-art-0b34c500045e4da382f7f3d12d88a6f82025-08-20T03:13:21ZengPublicaciones PermanyerBarcelona Respiratory Network Reviews2462-31722025-01-0111110.23866/BRNRev:2025-M0123Primary ciliary dyskinesiaSandra Rovira-Amigo0Mª. Araceli Caballero-Rabasco1Silvia Castillo-Corullón2Noelia Baz-Redón3Department of Paediatric Pulmonology, Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, Barcelona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid; SpainPaediatric Pulmonology and Allergy Unit, Hospital del Mar, Barcelona; Department of Medicine and Life Sciences, Universitat Pomepu Fabra, Barcelona; SpainDepartment of Paediatric Pulmonology, Hospital Clínico de Valencia, Valencia, SpainCentro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid;; Vall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, Barcelona. SpainPrimary ciliary dyskinesia (PCD) is a rare genetic respiratory disease caused by a dysfunction of motile respiratory cilia and is characterized by laterality defects, neonatal respiratory distress, recurrent upper and lower airway tract infections, and infertility or subfertility. Diagnosis requires a combination of different tests, such as nasal nitric oxide measurement, high-speed video microscopy analysis, immunofluorescence, transmission electron microscopy for ultrastructural analysis, and genetic testing. It is an underdiagnosed disease, and prompt diagnosis improves its prognosis. The purpose of this article is to review the current knowledge regarding the clinical aspects, management, diagnosis, and treatment of PCD. The diagnosis of PCD is complex, but early diagnosis is important to improve the prognosis. In the near future, patients may benefit from specific treatments. https://www.brnreviews.com/frame_eng.php?id=267Primary ciliary dyskinesia. Kartagener syndrome. Cilia. Bronchiectasis. |
| spellingShingle | Sandra Rovira-Amigo Mª. Araceli Caballero-Rabasco Silvia Castillo-Corullón Noelia Baz-Redón Primary ciliary dyskinesia Barcelona Respiratory Network Reviews Primary ciliary dyskinesia. Kartagener syndrome. Cilia. Bronchiectasis. |
| title | Primary ciliary dyskinesia |
| title_full | Primary ciliary dyskinesia |
| title_fullStr | Primary ciliary dyskinesia |
| title_full_unstemmed | Primary ciliary dyskinesia |
| title_short | Primary ciliary dyskinesia |
| title_sort | primary ciliary dyskinesia |
| topic | Primary ciliary dyskinesia. Kartagener syndrome. Cilia. Bronchiectasis. |
| url | https://www.brnreviews.com/frame_eng.php?id=267 |
| work_keys_str_mv | AT sandraroviraamigo primaryciliarydyskinesia AT maaracelicaballerorabasco primaryciliarydyskinesia AT silviacastillocorullon primaryciliarydyskinesia AT noeliabazredon primaryciliarydyskinesia |