Genetic Syndromes Affecting Kidney Development

  • Abhijeet Pal
  • Kimberly J Reidy
Part of the Results and Problems in Cell Differentiation book series (RESULTS, volume 60)


Renal anomalies are common birth defects that may manifest as a wide spectrum of anomalies from hydronephrosis (dilation of the renal pelvis and calyces) to renal aplasia (complete absence of the kidney(s)). Aneuploidies and mosaicisms are the most common syndromes associated with CAKUT. Syndromes with single gene and renal developmental defects are less common but have facilitated insight into the mechanism of renal and other organ development. Analysis of underlying genetic mutations with transgenic and mutant mice has also led to advances in our understanding of mechanisms of renal development.


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© Springer International Publishing AG 2017

Open Access This chapter is distributed under the terms of the Creative Commons Attribution Noncommercial License, which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.

Authors and Affiliations

  1. 1.Children’s Hospital at Montefiore/Albert Einstein College of MedicineBronxUSA
  2. 2.Pediatric NephrologyChildren’s Hospital at Montefiore/Albert Einstein College of MedicineBronxUSA

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