Making the Diagnosis of Primary Ciliary Dyskinesia in Australia.
Primary Ciliary Dyskinesia (PCD) is a genetic disorder associated with recurrent infections and irreversible airway damage. No single diagnostic test exists, necessitating use of a diagnostic algorithm that varies internationally. This retrospective study aimed to describe the clinical characteristics of patients, and algorithm used to diagnose PCD in New South Wales between 2014 and 2024.
A retrospective review of patients diagnosed with PCD at Concord Repatriation General Hospital (CRGH) from 2014 to 2024 was performed.
This study included 52 patients with median age of diagnosis 7.0 years. The diagnostic algorithm consists of nasal nitric oxide (nNO) in patients > 5 years, and nasal brushings for high-speed video microscopy (HSVMA), immunofluorescence (IF) and electron microscopy (EM). Whole exome sequencing is not routine and was performed in 33% of the cohort. The diagnosis was confirmed by a multidisciplinary team that considered the test results and clinical phenotype. Non-diagnostic results occurred in 14% (nNO), 15% (HSVMA), 41% (IF) and 30% (EM) of patients eventually diagnosed with PCD or PCD "highly likely". Cumulatively, 56% of patients had at least one non-diagnostic result. Of the 17 patients who underwent whole exome sequencing with a PCD panel, 41% had diagnostic genetic results.
Ciliary studies continue to be the mainstay of PCD diagnosis at CRGH. Although genetic testing is not part of the CRGH diagnostic algorithm, the CRGH algorithm has similar diagnostic performance to the ERS and ATS guidelines.
A retrospective review of patients diagnosed with PCD at Concord Repatriation General Hospital (CRGH) from 2014 to 2024 was performed.
This study included 52 patients with median age of diagnosis 7.0 years. The diagnostic algorithm consists of nasal nitric oxide (nNO) in patients > 5 years, and nasal brushings for high-speed video microscopy (HSVMA), immunofluorescence (IF) and electron microscopy (EM). Whole exome sequencing is not routine and was performed in 33% of the cohort. The diagnosis was confirmed by a multidisciplinary team that considered the test results and clinical phenotype. Non-diagnostic results occurred in 14% (nNO), 15% (HSVMA), 41% (IF) and 30% (EM) of patients eventually diagnosed with PCD or PCD "highly likely". Cumulatively, 56% of patients had at least one non-diagnostic result. Of the 17 patients who underwent whole exome sequencing with a PCD panel, 41% had diagnostic genetic results.
Ciliary studies continue to be the mainstay of PCD diagnosis at CRGH. Although genetic testing is not part of the CRGH diagnostic algorithm, the CRGH algorithm has similar diagnostic performance to the ERS and ATS guidelines.
Authors
Cai Cai, Frohlich Frohlich, Owens Owens, Hardaker Hardaker, Fitzgerald Fitzgerald, Campbell Campbell, Prentice Prentice, Morgan Morgan
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