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

Maayan Kagan, Oren Pleniceanu, Asaf Vivante*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish
Pages (from-to)2231-2243
Number of pages13
JournalPediatric Nephrology
Volume37
Issue number10
DOIs
StatePublished - Oct 2022

Funding

FundersFunder number
Israel Science Foundation2773/19

    Keywords

    • CAKUT
    • Genetic diseases
    • Monogenic
    • WES

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