Two cases of primary ciliary dyskinesia with different responses to macrolide treatment

Area of Science:

• Pulmonology
• Genetics
• Microbiology

Background:

• Primary ciliary dyskinesia (PCD) is a genetic disorder affecting cilia function.
• Macrolides are sometimes used to manage chronic respiratory infections in PCD.
• The efficacy of macrolides in PCD can be variable.

Observation:

• Two cases of PCD with differing responses to macrolide antibiotics are presented.
• Case 1: A 17-year-old male with combined inner and outer dynein arm defects and Pseudomonas aeruginosa infection showed no improvement with long-term macrolides (clarithromycin, erythromycin, azithromycin).
• Case 2: A 70-year-old male with isolated inner dynein arm deficiency experienced successful treatment with clarithromycin.

Findings:

• Macrolide treatment outcomes in PCD patients can differ significantly.
• The specific ultrastructural defect in cilia (e.g., combined vs. isolated dynein arm deficiency) may influence treatment response.
• Pseudomonas aeruginosa infection status appears relevant to macrolide efficacy in PCD.

Implications:

• Ciliary ultrastructure may serve as a predictive factor for macrolide therapy effectiveness in primary ciliary dyskinesia.
• Further research is needed to elucidate the mechanisms behind differential macrolide responses in PCD.
• Personalized treatment strategies based on ciliary defect type could improve outcomes for PCD patients.