Open access
Making the Diagnosis of Primary Ciliary Dyskinesia in Australia
Mi-Wen Cai
Megan Frohlich
Louisa Owens
K. Hardaker
D. Fitzgerald
R. Campbell
Bernadette Prentice
Lucy C. Morgan
Medicine
Abstract
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.