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The genetic basis of congenital anomalies of the kidney and urinary tract

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Abstract

During the past decades, remarkable progress has been made in our understanding of the molecular basis of kidney diseases, as well as in the ability to pinpoint disease-causing genetic changes. Congenital anomalies of the kidney and urinary tract (CAKUT) are remarkably diverse, and may be either isolated to the kidney or involve other systems, and are notorious in their variable genotype–phenotype correlations. Genetic conditions underlying CAKUT are individually rare, but collectively contribute to disease etiology in ~ 16% of children with CAKUT. In this review, we will discuss basic concepts of kidney development and genetics, common causes of monogenic CAKUT, and the approach to diagnosing and managing a patient with suspected monogenic CAKUT. Altogether, the concepts presented herein represent an introduction to the emergence of nephrogenetics, a fast-growing multi-disciplinary field that is focused on deciphering the causes and manifestations of genetic kidney diseases as well as providing the framework for managing patients with genetic forms of CAKUT.

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Authors and Affiliations

  1. Pediatric Department B and Pediatric Nephrology Unit, Edmond and Lily Safra Children’s Hospital, Sackler Faculty of Medicine, Sheba Medical Center, Tel Hashomer, 5265601, Ramat Gan, Israel

    Maayan Kagan & Asaf Vivante

  2. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

    Maayan Kagan, Oren Pleniceanu & Asaf Vivante

  3. Kidney Research Lab, The Institute of Nephrology and Hypertension, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel

    Oren Pleniceanu

  4. Talpiot Medical Leadership Program, Tel HaShomer, Ramat Gan, Israel

    Asaf Vivante

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  1. Maayan Kagan
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The authors declare no conflict of interest. Dr. Vivante is supported by an ISF – Clinical Scientist Grant (grant number: No. 2773/19).

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Kagan, M., Pleniceanu, O. & Vivante, A. The genetic basis of congenital anomalies of the kidney and urinary tract. Pediatr Nephrol 37, 2231–2243 (2022). https://doi.org/10.1007/s00467-021-05420-1

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