Primary ciliary dyskinesia evolving to bronchiectasis and bronchomalacia: 20-year follow-up

Abstract

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by ciliary dysfunction and ineffective mucociliary clearance, which favors recurrent respiratory infections and chronic respiratory complications. In this context, we present the case of a woman with a prolonged course of the disease, with the aim of highlighting the importance of early recognition in clinical practice. The patient presented neonatal pneumonia and multiple hospitalizations for respiratory infections in childhood, in addition to chronic wet cough and recurrent acute otitis media. Initially diagnosed with asthma, PCD was confirmed at age 8 by transmission electron microscopy, which showed absent dynein arms and ciliary structural abnormalities. In adulthood, she developed mild bronchomalacia, multiple bronchiectasis, and severe ventilatory obstruction. Her current treatment includes combined inhalation therapy, macrolides, hypertonic saline nebulizers, and respiratory physiotherapy, with progressive clinical improvement after a severe exacerbation in 2024. This case illustrates the difficulties of early diagnosis, as delay leads to progressive deterioration of lung function and an increased risk of chronic complications. Recognizing cardinal signs such as chronic wet cough and recurrent respiratory infections in the early stages is essential to guide confirmatory studies and establish timely management. In conclusion, PCD remains an underdiagnosed disease. Early detection and comprehensive treatment can significantly improve quality of life and reduce long-term complications. This case provides national clinical evidence and reinforces the need for greater availability of diagnostic tools in the Chilean public health system.