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Publication Information
Affiliation
Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN 55905, USA. harris.peter@mayo.edu
Authors
Bae KT, Baumgarten DA, Bennett WM, Chapman AB, Consugar M, Grantham JJ, Guay-Woodford LM, Harris PC, Kenney PJ, King BF, Klahr S, Meyers CM, Miller JP, Rossetti S, Thompson PA, Torres VE, Wetzel LH, Zhang QJ, Zhu F
Studies
Citation
Harris PC, Bae KT, Rossetti S, Torres VE, Grantham JJ, Chapman AB, Guay-Woodford LM, King BF, Wetzel LH, Baumgarten DA, Kenney PJ, Consugar M, Klahr S, Bennett WM, Meyers CM, Zhang QJ, Thompson PA, Zhu F, Miller JP. Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 2006 Nov;17(11):3013-9. Epub 2006 Oct 11.Abstract
Data from serial renal magnetic resonance imaging of the Consortium of Radiologic Imaging Study of PKD (CRISP) autosomal dominant polycystic kidney disease (PKD) population showed that cystic expansion occurs at a consistent rate per individual, although it is heterogeneous in the population, and that larger kidneys are associated with more rapid disease progression. The significance of gene type to disease progression is analyzed in this study of the CRISP cohort. Gene type was determined in 183 families (219 cases); 156 (85.2%) had PKD1, and 27 (14.8%) had PKD2. PKD1 kidneys were significantly larger, but the rate of cystic growth (PKD1 5.68%/yr; PKD2 4.82%/yr) was not different (P = 0.24). Cyst number increased with age, and more cysts were detected in PKD1 kidneys (P < 0.0001). PKD1 is more severe because more cysts develop earlier, not because they grow faster, implicating the disease gene in cyst initiation but not expansion. These insights will inform the development of targeted therapies in autosomal dominant PKD.