原発性線毛運動不全症を伴う小児における再発性肺結核：まれな関連性

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by defective ciliary motility, resulting in chronic pulmonary infections and bronchiectasis. An 8-year-old boy with recurrent pulmonary tuberculosis (PTB) and newly diagnosed PCD by whole exome sequencing (WES) is reported. He presented with a chronic cough, intermittent fever, night sweats and weight loss, 3 months after completing a 6-month first-line antituberculosis therapy (ATT) regimen for drug-sensitive PTB. High-resolution computerised tomography showed bronchiectatic changes and chronic suppurative lung disease. Broncho-alveolar lavage fluid was tested on Xpert MTB/Rif Ultra and detected rifampicin-sensitive Mycobacterium tuberculosis. In view of the bronchiectasis and chronic suppurative lung disease, WES was undertaken which identified a PCD variant of unknown significance. The Primary Ciliary Dyskinesia Rule (PICADAR) score was calculated to be 8. He was diagnosed with PCD and a relapse of drug-sensitive PTB, for which first-line ATT was resumed. In view of possible syndromic conditions such as PCD, this case highlights the need for clinical suspicion and genetic testing in paediatric patients with recurrent pulmonary TB and bronchiectasis.