Clinical Spectrum and Genetic Characterization of Seven Children with Primary Ciliary Dyskinesia from Central Karnataka, India: A Case Series

Abstract

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder characterized by impaired mucociliary clearance and recurrent sinopulmonary infections. Early diagnosis is crucial to prevent irreversible lung damage, yet remains challenging due to clinical variability and limited access to specialized diagnostics in resource-constrained settings. This case series describes seven genetically confirmed paediatric PCD patients from a tertiary centre in central Karnataka, India, highlighting the spectrum of clinical presentations and diagnostic limitations. While the PICo aDApted for aDApted Risk score was useful in patients with situs inversus, it underestimated disease probability in those without laterality defects or chronic wet cough. Genetic testing confirmed biallelic mutations in all cases, including both common and rare variants. Nasal nitric oxide, high-speed video microscopy, and transmission electron microscopy were unavailable, underscoring the need for accessible alternatives. These findings emphasize the importance of clinical judgment and context-sensitive diagnostic strategies, especially in early life, and contribute to the growing recognition of PCD in the Indian paediatric population.