Calcium stone lithoptysis in primary ciliary dyskinesia

An association between lithoptysis and primary ciliary dyskinesia (PCD) has not been previously reported. However, reports of lithoptysis from 2 older patients (>60 yr) prompted a study of this association. 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 > or = 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 light and electron microscopy- and electron-dispersive X-ray analysis. In total, 142 patients (n=28 age > or = 40) were included, 41 in the prospective and 91 in the retrospective study. Lithoptysis was reported in 5 patients (all age > or = 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 broncholith 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. There is an association between lithoptysis and PCD in patients age > or = 40. We hypothesize that calcite stone formation is a biomineralization response to chronic airway inflammation and retention of infected airway secretions in PCD in a subset of PCD patients

Calcium stone lithoptysis in primary ciliary dyskinesia

An association between lithoptysis and primary ciliary dyskinesia (PCD) has not been previously reported. However, reports of lithoptysis from 2 older patients (>60 yr) prompted a study of this association. 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 > or = 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 light and electron microscopy- and electron-dispersive X-ray analysis. In total, 142 patients (n=28 age > or = 40) were included, 41 in the prospective and 91 in the retrospective study. Lithoptysis was reported in 5 patients (all age > or = 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 broncholith 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. There is an association between lithoptysis and PCD in patients age > or = 40. We hypothesize that calcite stone formation is a biomineralization response to chronic airway inflammation and retention of infected airway secretions in PCD in a subset of PCD patients

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

Primary ciliary dyskinesia (PCD) is an autosomal recessive, genetically heterogeneous disorder characterized by oto-sino-pulmonary disease and situs abnormalities (Kartagener syndrome) due to abnormal structure and/or function of cilia. Most patients currently recognized to have PCD have ultrastructural defects of cilia; however, some patients have clinical manifestations of PCD and low levels of nasal nitric oxide, but normal ultrastructure, including a few patients with biallelic mutations in DNAH11