Pneumonia and bacteremia due to Pseudomonas aeruginosa in a primary ciliary dyskinesia patient with DNAH5 variants: A case report
Abstract
Ciliary motility disorders can be inherited or acquired. DNAH5, located on chromosome 5p15.2 and encoding a protein of 4624 amino acids, is one of the most frequently implicated genes in congenital conditions known as primary ciliary dyskinesia (PCD). Genetic variants of DNAH5 exhibit variable impacts on lung function and contribute to dysfunction of respiratory cilia. Patients with PCD are highly susceptible to chronic respiratory infections. Among them, Pseudomonas aeruginosa (P. aeruginosa) is one of the major pathogens, usually leading to severe infections and posing significant treatment challenges. We report the case of a 69-year-old female patient with PCD in DNAH5 variants who had pneumonia and bacteremia due to P. aeruginosa infection.
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