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[Primary ciliary dyskinesia. Experience in 6 patients]
G Moya1, S Caussade, S González
1Departamento de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile.
Revista Medica De Chile
|February 7, 2001
Summary
Primary ciliary dyskinesia (PCD) causes recurrent respiratory infections due to impaired ciliary function. Bronchial biopsy analysis reveals ciliary ultrastructural defects, aiding PCD diagnosis.
Area of Science:
- Medical Science
- Genetics
- Pulmonology
Background:
- Primary ciliary dyskinesia (PCD) is a congenital disorder affecting ciliary structure and function.
- This impairment leads to a loss of respiratory tract clearance, resulting in recurrent infections.
Purpose of the Study:
- To investigate the clinical and laboratory characteristics of patients diagnosed with primary ciliary dyskinesia.
- To analyze ultrastructural alterations in respiratory tract ciliated cells.
Main Methods:
- Retrospective review of six primary ciliary dyskinesia patients (1994-1998).
- Bronchial biopsies were obtained via bronchoscopy using a 3.6 mm Olympus fibrobronchoscope and a cayman type forceps.
- Ultrastructural analysis of ciliated cells was performed.
Main Results:
- Patients presented with recurrent obstructive bronchitis, pneumonia, sinusitis, atelectasis, otitis, and bronchiectasis.
- Three patients had situs inversus.
- Ultrastructural findings included absence of dynein arms (3 cases), absence of internal dynein arm (1 case), and additional peripheral microtubules with absent dynein arms (1 case).
- Cystic fibrosis and immunological disorders were excluded.
Conclusions:
- Primary ciliary dyskinesia should be considered in the differential diagnosis of recurrent respiratory infections.
- Bronchial biopsy ultrastructural analysis is a valuable diagnostic tool for PCD.