Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease

Peter C Harris, Kyongtae T. Bae, Sandro Rossetti, Vicente Torres, Jared J. Grantham, Arlene B. Chapman, Lisa M. Guay-Woodford, Bernard Francis King, Louis H. Wetzel, Deborah A. Baumgarten, Philip J. Kenney, Mark Consugar, Saulo Klahr, William M. Bennett, Catherine M. Meyers, Qin Zhang, Paul A. Thompson, Fang Zhu, J. Philip Miller

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Abstract

Data from serial renal magnetic resonance imaging of the Consortium of Radiologic Imaging Study of PICD (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.

Original languageEnglish (US)
Pages (from-to)3013-3019
Number of pages7
JournalJournal of the American Society of Nephrology
Volume17
Issue number11
DOIs
StatePublished - Nov 2006

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ASJC Scopus subject areas

  • Nephrology

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Harris, P. C., Bae, K. T., Rossetti, S., Torres, V., Grantham, J. J., Chapman, A. B., Guay-Woodford, L. M., King, B. F., Wetzel, L. H., Baumgarten, D. A., Kenney, P. J., Consugar, M., Klahr, S., Bennett, W. M., Meyers, C. M., Zhang, Q., Thompson, P. A., Zhu, F., & Miller, J. P. (2006). Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. Journal of the American Society of Nephrology, 17(11), 3013-3019. https://doi.org/10.1681/ASN.2006080835