Go to JCI Insight
Jci spelled out white on transparent.20160208
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Alerts
  • Advertising/recruitment
  • Subscribe
  • Contact
  • Current Issue
  • Past Issues
  • By specialty
    • Cardiology
    • Gastroenterology
    • Immunology
    • Metabolism
    • Nephrology
    • Neuroscience
    • Oncology
    • Pulmonology
    • Vascular biology
    • All...
  • Videos
    • Conversations with Giants in Medicine
    • Author's Takes
  • Reviews
    • View all reviews...
    • Cellular senescence in human disease (Apr 2018)
    • Fibrosis (Jan 2018)
    • Glia and Neurodegeneration (Sep 2017)
    • Transplantation (Jun 2017)
    • Nuclear Receptors (Apr 2017)
    • Metabolism and Inflammation (Jan 2017)
    • Hypoxia and Inflammation (Oct 2016)
    • View all review series...
  • Collections
    • Recently published
    • Commentaries
    • Concise Communication
    • Editorials
    • Opinion
    • Scientific Show Stoppers
    • Top read articles
    • In-Press Preview
  • Clinical Medicine
  • JCI This Month
    • Current issue
    • Past issues

Jci only white

  • About
  • Editors
  • Consulting Editors
  • For authors
  • Current issue
  • Past issues
  • By specialty
  • Subscribe
  • Alerts
  • Advertise
  • Contact
  • Conversations with Giants in Medicine
  • Author's Takes
  • Recently published
  • Brief Reports
  • Technical Advances
  • Commentaries
  • Editorials
  • Hindsight
  • Review series
  • Reviews
  • The Attending Physician
  • First Author Perspectives
  • Scientific Show Stoppers
  • Top read articles
  • Concise Communication

Review 10.1172/JCI95300

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.

Find articles by Sanna-Cherchi, S. 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.

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.

Find articles by Ghiggeri, G. 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.

Find articles by Gharavi, A. in: JCI | PubMed | Google Scholar

First published January 2, 2018 - More info

Published in Volume 128, Issue 1 (January 2, 2018)
J Clin Invest. 2018;128(1):4–15. https://doi.org/10.1172/JCI95300.
Copyright © 2018, American Society for Clinical Investigation

Published January 2, 2018

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.

Preview pages

Reset
Page preview
5 Page 4 Back

Continue reading with a subscription.

A subscription is required for you to read this article in full. If you are a subscriber, you may sign in to continue reading.

Already subscribed?

Click here to sign into your account.

Don't have a subscription?

Please select one of the subscription options, which includes a low-cost option just for this article.

At an institution or library?

If you are at an institution or library and believe you should have access, please check with your librarian or administrator (more information).

Problems?

Please try these troubleshooting tips.

  • Purchase this article
  • $10
  • Purchasing this article will give you full access for the calendar year.
  • Purchase article
  • Purchase Site Pass
  • $25
  • This will give you access to every article on the site for 24 hours.
  • Order site pass
  • Online subscription
  • $95
  • Individual online subscriptions give you full online access for the calendar year.
  • Order Online
  • Print subscription
  • $795
  • Individual print subscriptions give you the print journal and full online access for the year.
  • Print + Online
  • JCI This Month subscription
  • $125
  • JCI This Month is a 16- to 20-page overview of the articles published each month
  • Subscribing to JCI This Month also gives subscribers full online access for the calendar year.
  • *Price outside U.S. and Canada: $225.
  • JCI This Month + Online
Advertisement
Follow JCI: Facebook logo white Twitter logo v2 Rss icon
Copyright © 2018 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)

Sign up for email alerts