Genetic basis of human congenital anomalies of the kidney and urinary tract
Simone Sanna-Cherchi,1 Rik Westland,1,2 Gian Marco Ghiggeri,3 and Ali G. Gharavi1
1Division of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York, USA.
2Department of Pediatric Nephrology, VU University Medical Center, Amsterdam, Netherlands.
3Division of Nephrology, Dialysis and Transplantation, Istituto Giannina Gaslini, Genoa, Italy.
Address correspondence to: Simone Sanna-Cherchi, Division of Nephrology, Columbia University College of Physicians and Surgeons, 1150 Street Nicholas Avenue, Russ Berrie Pavilion 412b, New York, New York 10032, USA. Phone: 212.851.4925; Email: ss2517@cumc.columbia.edu. Or to: Ali G. Gharavi, Division of Nephrology, Columbia University College of Physicians and Surgeons, 1150 Street Nicholas Avenue, Russ Berrie Pavilion 412, New York, New York 10032, USA. Phone: 212.851.4927; Email: ag2239@columbia.edu.
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1Division of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York, USA.
2Department of Pediatric Nephrology, VU University Medical Center, Amsterdam, Netherlands.
3Division of Nephrology, Dialysis and Transplantation, Istituto Giannina Gaslini, Genoa, Italy.
Address correspondence to: Simone Sanna-Cherchi, Division of Nephrology, Columbia University College of Physicians and Surgeons, 1150 Street Nicholas Avenue, Russ Berrie Pavilion 412b, New York, New York 10032, USA. Phone: 212.851.4925; Email: ss2517@cumc.columbia.edu. Or to: Ali G. Gharavi, Division of Nephrology, Columbia University College of Physicians and Surgeons, 1150 Street Nicholas Avenue, Russ Berrie Pavilion 412, New York, New York 10032, USA. Phone: 212.851.4927; Email: ag2239@columbia.edu.
Find articles by Westland, R. in: JCI | PubMed | Google Scholar
1Division of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York, USA.
2Department of Pediatric Nephrology, VU University Medical Center, Amsterdam, Netherlands.
3Division of Nephrology, Dialysis and Transplantation, Istituto Giannina Gaslini, Genoa, Italy.
Address correspondence to: Simone Sanna-Cherchi, Division of Nephrology, Columbia University College of Physicians and Surgeons, 1150 Street Nicholas Avenue, Russ Berrie Pavilion 412b, New York, New York 10032, USA. Phone: 212.851.4925; Email: ss2517@cumc.columbia.edu. Or to: Ali G. Gharavi, Division of Nephrology, Columbia University College of Physicians and Surgeons, 1150 Street Nicholas Avenue, Russ Berrie Pavilion 412, New York, New York 10032, USA. Phone: 212.851.4927; Email: ag2239@columbia.edu.
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1Division of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York, USA.
2Department of Pediatric Nephrology, VU University Medical Center, Amsterdam, Netherlands.
3Division of Nephrology, Dialysis and Transplantation, Istituto Giannina Gaslini, Genoa, Italy.
Address correspondence to: Simone Sanna-Cherchi, Division of Nephrology, Columbia University College of Physicians and Surgeons, 1150 Street Nicholas Avenue, Russ Berrie Pavilion 412b, New York, New York 10032, USA. Phone: 212.851.4925; Email: ss2517@cumc.columbia.edu. Or to: Ali G. Gharavi, Division of Nephrology, Columbia University College of Physicians and Surgeons, 1150 Street Nicholas Avenue, Russ Berrie Pavilion 412, New York, New York 10032, USA. Phone: 212.851.4927; Email: ag2239@columbia.edu.
Find articles by Gharavi, A. in: JCI | PubMed | Google Scholar
First published January 2, 2018 - More info
J Clin Invest. 2018;128(1):4–15. https://doi.org/10.1172/JCI95300.
Copyright © 2018, American Society for Clinical Investigation
The clinical spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) encompasses a common birth defect in humans that has significant impact on long-term patient survival. Overall, data indicate that approximately 20% of patients may have a genetic disorder that is usually not detected based on standard clinical evaluation, implicating many different mutational mechanisms and pathogenic pathways. In particular, 10% to 15% of CAKUT patients harbor an unsuspected genomic disorder that increases risk of neurocognitive impairment and whose early recognition can impact clinical care. The emergence of high-throughput genomic technologies is expected to provide insight into the common and rare genetic determinants of diseases and offer opportunities for early diagnosis with genetic testing.
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