Calcium stone lithoptysis in primary ciliary dyskinesia

Background: An association between lithoptysis and primary ciliary dyskinesia (PCD) has not been previously reported. However, reports of lithoptysis from 2 older patients (> 60yr) prompted a study of this association. Methods: We performed a prospective study of all PCD patients presenting to our institution between August 2003 and March 2006, seeking the symptom of lithoptysis or calcium deposition on radiology. A retrospective analysis of all PCD patients presenting prior to August 2003 was also performed. Patients age-> 40 previously reviewed were recontacted. If a history of lithoptysis or calcium deposition was present, we further reviewed radiographic, microbiologic, and biochemical data, including serum calcium and phosphate. Broncholiths were analyzed by tight and electron microscopy- and electron-dispersive X-ray analysis. Results: In total, 142 patients (n = 28 age-> 40) were included, 41 in the prospective and 91 in the retrospective study. Lithoptysis was reported in 5 patients (all age >= 40). Chest CT scans identified calcification (4/5), involving bronchiectatic airways in 3 patients and focal nodular calcification in 1 patient. Two other patients (age 46, 59) were identified with airway calcification without lithoptysis. Available broncholiths from 2 of these patients were composed of calcite, whereas a bronchotith from 1 patient with focal nodular calcification contained calcium phosphate. Sputum was positive for Pseudomonas aeruginosa in all 7 patients, but negative for mycobacterial and fungal cultures. Conclusion: There is an association between lithoptysis and PCD in patients age >= 40. We hypothesize that calcite stone formation is a bionnineratization response to chronic airway inflammation and retention of infected airway secretions in PCD in a subset of PCD patients. (c) 2006 Elsevier Ltd. All rights reserved.