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Cyst Number but Not the Rate of Cystic Growth Is Associated with the Mutated Gene in Autosomal Dominant Polycystic Kidney Disease
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.
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Citations
Cited by
Autosomal dominant polycystic kidney disease
Torres, V. E., Harris, P. C., & Pirson, Y. (2007) · The Lancet · doi:10.1016/s0140-6736(07)60601-1 · Cited by 1,550
Self-citationAutosomal dominant polycystic kidney disease
Cornec-Le Gall, E., Alam, A., & Perrone, R. D. (2019) · The Lancet · doi:10.1016/s0140-6736(18)32782-x · Cited by 624
Autosomal Dominant Polycystic Kidney Disease
Grantham, J. J. (2008) · New England Journal of Medicine · doi:10.1056/nejmcp0804458 · Cited by 543
Self-citationPorath, B., Gainullin, V. G., Cornec-Le Gall, E., Dillinger, E. K., Heyer, C. M., Hopp, K., Edwards, M. E., Madsen, C. D., Mauritz, S. R., Banks, C. J., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.05.004 · Cited by 475
Self-citationFunctional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity
Hopp, K., Ward, C. J., Hommerding, C. J., Nasr, S. H., Tuan, H.-F., Gainullin, V. G., Rossetti, S., Torres, V. E., & Harris, P. C. (2012) · Journal of Clinical Investigation · doi:10.1172/jci64313 · Cited by 442
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Metadata
- Authors
- Harris, P. C., Bae, K. T., Rossetti, S., Torres, V. E., 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.
- Venue
- Journal of the American Society of Nephrology
- Published
- 2006-11
- Volume
- 17
- Issue
- 11
- Pages
- 3013-3019
- ISSN
- 1046-6673 (ISSN-L)
- OpenAlex
- W2110452525
- Cited by
- 271
- References
- 0
- FWCI
- 6.19
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Cyst Number but Not the Rate of Cystic Growth Is Associated with the Mutated Gene in Autosomal Dominant Polycystic Kidney Disease. https://app.cochat.ai/papers/10.1681/asn.2006080835
- The paper
- Harris, P. C., Bae, K. T., Rossetti, S., Torres, V. E., 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. https://doi.org/10.1681/asn.2006080835
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