Caracterização clínica e genética de pacientes com suspeita de Discinesia Ciliar Primária

Abstract

INTRODUCTION: Primary Ciliary Dyskinesia (PCD) is a rare genetic disease characterized by structural and functional alterations in airway cilia, compromising mucociliary clearance and leading to recurrent respiratory infections, bronchiectasis, otitis, chronic sinusitis, among other manifestations. Early diagnosis is challenged by its clinical heterogeneity and similarity to other lung diseases. OBJECTIVES: To clinically and genetically characterize patients with suspected PCD treated at the Hospital das Clínicas of the Federal University of Goiás, describing predominant manifestations, correlating clinical scores (PICADAR) and genetic tests results. METHODS: Observational, descriptive and retrospective study with 23 patients referred to the Rare Diseases Outpatient Clinic of HC-UFG between 2023 and 2025. Clinical, sociodemographic and genetic data were collected through medical records, interviews and structured questionnaires. All participants signed an informed consent form and the study was approved by the Ethics Committee (opinion no. 5,027,099). RESULTS: The sample had a mean age of 24.8 years, with symptoms beginning mostly in childhood. Productive cough (91.3%), dyspnea (87.0%) and bronchiectasis (82.6%) were the most frequent symptoms. Of the 15 patients with available genetic testing, 66.7% presented pathogenic or likely pathogenic variants, mainly in the DNAH5, ODAD3, DRC1 and CCDC39 genes. The PICADAR score was higher among those with genetic variants with pathogenic potential identified. CONCLUSION: The findings reinforce the role of clinical scoring and genetic investigation in the diagnosis of PCD, especially in centers with limited resources. Detailed clinical characterization and integration with molecular tests favor early diagnosis and appropriate multidisciplinary management, with a potential positive impact on the quality of life of patients.