Primary ciliary dyskinesia

PURPOSE: Primary ciliary dyskinesia (PCD) is characterized by sino-pulmonary disease associated with abnormal ciliary structure and function leading to defective airway host defense. It is an autosomal recessive trait with a prevalence of ~1/12000-1/17000 [Noone et al. AJRCCM 169, 2004]. Broncholiths (stones in the bronchial lumen) and intraluminal calcification have been previously reported in idiopathic bronchiectasis [Hirashima et al. Nihon Kyobu 31, 1993]. After identifying two adult PCD patients (ages 60 and 65) with lithoptysis (expectoration of a stone) and pulmonary calcification, we tested the hypothesis that lithoptysis related to pulmonary calcification is associated with PCD.

METHODS: From our total population of 128 PCD patients, we reviewed the histories and questioned 20 contactable patients of 27 age>40. If a history of lithoptysis was reported radiographic microbiologic and laboratory data were reviewed. In one patient, broncholiths were examined by routine and electron microscopy. Electron dispersive X-ray analysis (EDXA) was performed and stones were decalcified and stained for fungi. Chest CT scans were reviewed for calcification in 31 PCD patients, including 12 patients age>40.

RESULTS: 5/20 (25%) PCD patients age>40 reported lithoptysis. Chest CT scans in 3/4 of these patients displayed intraluminal and peribronchial calcification without mediastinal nodal or abdominal calcification. Chest CT is pending in the 5th patient. Two other PCD patients were identified with intraluminal and peribronchial calcification without a history of lithoptysis. Broncholiths were composed of calcium carbonate (calcite) without evidence of positive staining for fungi in one patient. Sputum culture and history was negative for mycobacterial and fungal infection and positive for P. aeruginosa in all 7 patients (n=5 mucoid).

CONCLUSION: There is an association between lithoptysis and pulmonary calcification without nodal calcification in PCD that has not been previously reported.

CLINICAL IMPLICATIONS: We hypothesize that the formation of calcium stones in PCD is a biomineralization response to chronic airway inflammation and retention of infected airway secretions.

DISCLOSURE: Marcus Kennedy, None.

Marcus P. Kennedy MD * Peadar G. Noone MD Paul L. Molina MD Andy J. Ghio MD John L. Carson PhD Maimoona Zariwala PhD Susan L. Minnix RN Michael R. Knowles MD Unviersity of North Carolina, Chapel Hill, NC

COPYRIGHT 2005 American College of Chest Physicians
COPYRIGHT 2005 Gale Group