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Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

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Abstract

Congenital anomalies of the kidney and urinary tract (CAKUT) cover a wide range of structural malformations that result from defects in the morphogenesis of the kidney and/or urinary tract. These anomalies account for about 40–50 % of children with chronic kidney disease worldwide. Knowledge from genetically modified mouse models suggests that single gene mutations in renal developmental genes may lead to CAKUT in humans. However, until recently, only a handful of CAKUT-causing genes were reported, most of them in familial syndromic cases. Recent findings suggest that CAKUT may arise from mutations in a multitude of different single gene causes. We focus here on single-gene causes of CAKUT and their developmental origin. Currently, more than 20 monogenic CAKUT-causing genes have been identified. High-throughput sequencing techniques make it likely that additional CAKUT-causing genes will be identified in the near future.

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Acknowledgments

F.H. is an Investigator of the Howard Hughes Medical Institute, a Doris Duke Distinguished Clinical Scientist, and the Warren E. Grupe Professor of Pediatrics. This research was supported by grants from the National Institutes of Health (to F.H.; R01-DK088767) and by the March of Dimes Foundation (6FY11-241). A.V. is a recipient of the Fulbright Post-doctoral Scholar Award for 2013. A.V. is also supported by grants from the Talpiot Medical Leadership Program, Chaim Sheba Medical Center, Tel-Hashomer, Israel and the Manton center Fellowship program, Boston Children’s Hospital, Boston, MA.

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  1. Department of Medicine, Boston Children’s Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA

    Asaf Vivante, Stefan Kohl, Daw-Yang Hwang, Gabriel C. Dworschak & Friedhelm Hildebrandt

  2. Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel

    Asaf Vivante

  3. Howard Hughes Medical Institute, Chevy Chase, MD, USA

    Friedhelm Hildebrandt

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  1. Asaf Vivante
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  2. Stefan Kohl
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  3. Daw-Yang Hwang
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  5. Friedhelm Hildebrandt
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Correspondence to Friedhelm Hildebrandt.

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Vivante, A., Kohl, S., Hwang, DY. et al. Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Pediatr Nephrol 29, 695–704 (2014). https://doi.org/10.1007/s00467-013-2684-4

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  • DOI: https://doi.org/10.1007/s00467-013-2684-4

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