Autosomal dominant polycystic kidney disease is associated with an increased prevalence of radiographic bronchiectasis.
BACKGROUND
Autosomal dominant polycystic kidney disease (ADPKD) is a common disease with several known extrarenal manifestations, although no known pulmonary features. The formation of renal cysts in ADPKD has been attributed to dysfunction of primary cilia and the primary cilia-related proteins polycystin-1 (in 85% of cases) and polycystin-2 in renal epithelial cells. The goals of this study were to characterize the normal expression of polycystin-1 in the motile cilia of airway epithelial cells and to evaluate lung structure in ADPKD patients.


METHODS
Airway epithelium from non-ADPKD patients was immunostained to localize polycystin-1 expression, and lung tissue from ADPKD patients was examined for pathologic changes. CT scans from ADPKD patients (n = 95) and a control group of non-ADPKD chronic kidney disease patients (n = 95) were retrospectively reviewed for the presence of bronchiectasis using defined criteria.


RESULTS
Immunostaining revealed polycystin-1 expression in the motile cilia of non-ADPKD airway epithelial cells. Lung tissue from one of five available ADPKD patient autopsies revealed histologic changes of bronchiectasis. Review of CT scans revealed a threefold-increased prevalence of bronchiectasis in the ADPKD group compared to the control group (37% vs 13%, p = 0.002).


CONCLUSIONS
ADPKD patients demonstrate an increased prevalence of radiographic bronchiectasis, a previously unrecognized manifestation of the disease. This association suggests that patients with primary cilia-associated diseases may be at risk for airway disease.
Driscoll
James A
JA
Department of Medicine, Washington University School of Medicine, 660 S. Euclid Ave, St. Louis, MO 63110, USA.
Bhalla
Sanjeev
S
Liapis
Helen
H
Ibricevic
Aida
A
Brody
Steven L
SL
D000818:Animals; D001987:Bronchiectasis / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000209:etiology; D002478:Cells, Cultured; D002923:Cilia / Q000378:metabolism / Q000473:pathology; D004195:Disease Models, Animal; D005500:Follow-Up Studies; D015870:Gene Expression; D006801:Humans; D015151:Immunoblotting; D008168:Lung / Q000000981:diagnostic imaging / Q000378:metabolism / Q000473:pathology; D051379:Mice; D008810:Mice, Inbred C57BL; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D016133:Polymerase Chain Reaction; D015995:Prevalence; D012313:RNA / Q000235:genetics; D020545:Respiratory Mucosa / Q000378:metabolism / Q000473:pathology; D012189:Retrospective Studies; D050396:TRPP Cation Channels / Q000378:metabolism; D014057:Tomography, X-Ray Computed; D014132:Trachea / Q000378:metabolism / Q000473:pathology
D012313:RNA; D050396:TRPP Cation Channels