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Review
. 2024 Feb;44(2):205-221.
doi: 10.1002/pd.6516. Epub 2024 Jan 5.

The genetic etiologies of bilateral renal agenesis

Gregory W Kirschen  1 , Karin Blakemore  1 , Huda B Al-Kouatly  2 , Gila Fridkis  3 , Ahmet Baschat  1 , John Gearhart  4 , Angie C Jelin  1
Affiliations
Review

The genetic etiologies of bilateral renal agenesis

Gregory W Kirschen et al. Prenat Diagn. 2024 Feb.

Abstract

Objective: The goal of this study was to review and analyze the medical literature for cases of prenatal and/or postnatally diagnosed bilateral renal agenesis (BRA) and create a comprehensive summary of the genetic etiologies known to be associated with this condition.

Methods: A literature search was conducted as a scoping review employing Online Mendeliain Inheritance in Man, PubMed, and Cochrane to identify cases of BRA with known underlying genetic (chromosomal vs. single gene) etiologies and those described in syndromes without any known genetic etiology. The cases were further categorized as isolated versus non-isolated, describing additional findings reported prenatally, postnatally, and postmortem. Inheritance pattern was also documented when appropriate in addition to the reported timing of diagnosis and sex.

Results: We identified six cytogenetic abnormalities and 21 genes responsible for 20 single gene disorders associated with BRA. Five genes have been reported to associate with BRA without other renal anomalies; sixteen others associate with both BRA as well as unilateral renal agenesis. Six clinically recognized syndromes/associations were identified with an unknown underlying genetic etiology. Genetic etiologies of BRA are often phenotypically expressed as other urogenital anomalies as well as complex multi-system syndromes.

Conclusion: Multiple genetic etiologies of BRA have been described, including cytogenetic abnormalities and monogenic syndromes. The current era of the utilization of exome and genome-wide sequencing is likely to significantly expand our understanding of the underlying genetic architecture of BRA.

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Conflict of interest statement

Conflicts of interest statement: The authors have no relevant conflicts of interest to report.

Figures

Figure 1.
Figure 1.
Known genes and cellular pathways involved in bilateral renal agenesis. Shown is a diagram of a cell demonstrating the different cell surface receptors, intracellular signaling partners, and nuclear elements known to be involved in the pathogenesis of BRA. ECM: extracellular matrix. (Original artwork by GWK).
See this image and copyright information in PMC

References

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Publication types

Supplementary concepts