Progress in Diagnosing Primary Ciliary Dyskinesia: The North American Perspective
Primary Ciliary Dyskinesia (PCD) is a rare, under-recognized disease that affects respiratory ciliary function, resulting in chronic oto-sino-pulmonary disease. The PCD clinical phenotype overlaps with other common respiratory conditions and no single diagnostic test detects all forms of PCD. In 201...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-07-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/11/7/1278 |
| _version_ | 1797527305589882880 |
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| author | Michael Glenn O’Connor Amjad Horani Adam J. Shapiro |
| author_facet | Michael Glenn O’Connor Amjad Horani Adam J. Shapiro |
| author_sort | Michael Glenn O’Connor |
| collection | DOAJ |
| description | Primary Ciliary Dyskinesia (PCD) is a rare, under-recognized disease that affects respiratory ciliary function, resulting in chronic oto-sino-pulmonary disease. The PCD clinical phenotype overlaps with other common respiratory conditions and no single diagnostic test detects all forms of PCD. In 2018, PCD experts collaborated with the American Thoracic Society (ATS) to create a clinical diagnostic guideline for patients across North America, specifically considering the local resources and limitations for PCD diagnosis in the United States and Canada. Nasal nitric oxide (nNO) testing is recommended for first-line testing in patients ≥5 years old with a compatible clinical phenotype; however, all low nNO values require confirmation with genetic testing or ciliary electron micrograph (EM) analysis. Furthermore, these guidelines recognize that not all North American patients have access to nNO testing and isolated genetic testing is appropriate in cases with strong clinical PCD phenotypes. For unresolved diagnostic cases, referral to a PCD Foundation accredited center is recommended. The purpose of this narrative review is to provide insight on the North American PCD diagnostic process, to enhance the understanding of and adherence to current guidelines, and to promote collaboration with diagnostic pathways used outside of North America. |
| first_indexed | 2024-03-10T09:42:05Z |
| format | Article |
| id | doaj.art-575bb1540f2541a294866e5a5be69bb2 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-10T09:42:05Z |
| publishDate | 2021-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-575bb1540f2541a294866e5a5be69bb22023-11-22T03:35:28ZengMDPI AGDiagnostics2075-44182021-07-01117127810.3390/diagnostics11071278Progress in Diagnosing Primary Ciliary Dyskinesia: The North American PerspectiveMichael Glenn O’Connor0Amjad Horani1Adam J. Shapiro2Pediatric Pulmonary Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USADepartment of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USAPediatric Pulmonary Medicine, McGill University Health Centre Research Institute, Montreal, QC H4A 3J1, CanadaPrimary Ciliary Dyskinesia (PCD) is a rare, under-recognized disease that affects respiratory ciliary function, resulting in chronic oto-sino-pulmonary disease. The PCD clinical phenotype overlaps with other common respiratory conditions and no single diagnostic test detects all forms of PCD. In 2018, PCD experts collaborated with the American Thoracic Society (ATS) to create a clinical diagnostic guideline for patients across North America, specifically considering the local resources and limitations for PCD diagnosis in the United States and Canada. Nasal nitric oxide (nNO) testing is recommended for first-line testing in patients ≥5 years old with a compatible clinical phenotype; however, all low nNO values require confirmation with genetic testing or ciliary electron micrograph (EM) analysis. Furthermore, these guidelines recognize that not all North American patients have access to nNO testing and isolated genetic testing is appropriate in cases with strong clinical PCD phenotypes. For unresolved diagnostic cases, referral to a PCD Foundation accredited center is recommended. The purpose of this narrative review is to provide insight on the North American PCD diagnostic process, to enhance the understanding of and adherence to current guidelines, and to promote collaboration with diagnostic pathways used outside of North America.https://www.mdpi.com/2075-4418/11/7/1278primary ciliary dyskinesiaPCDdiagnostic guidelinesNorth America |
| spellingShingle | Michael Glenn O’Connor Amjad Horani Adam J. Shapiro Progress in Diagnosing Primary Ciliary Dyskinesia: The North American Perspective Diagnostics primary ciliary dyskinesia PCD diagnostic guidelines North America |
| title | Progress in Diagnosing Primary Ciliary Dyskinesia: The North American Perspective |
| title_full | Progress in Diagnosing Primary Ciliary Dyskinesia: The North American Perspective |
| title_fullStr | Progress in Diagnosing Primary Ciliary Dyskinesia: The North American Perspective |
| title_full_unstemmed | Progress in Diagnosing Primary Ciliary Dyskinesia: The North American Perspective |
| title_short | Progress in Diagnosing Primary Ciliary Dyskinesia: The North American Perspective |
| title_sort | progress in diagnosing primary ciliary dyskinesia the north american perspective |
| topic | primary ciliary dyskinesia PCD diagnostic guidelines North America |
| url | https://www.mdpi.com/2075-4418/11/7/1278 |
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