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Gene discovery and vesicoureteric reflux

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Abstract

Vesicoureteric reflux (VUR) is a congenital urinary tract defect caused by abnormal insertion of the ureter within the bladder wall. This leads to a defective ureterovesical junction in which urine flows retrogradely from the bladder to the kidneys. Although VUR is associated with recurrent urinary tract infections, renal malformations, hypertension, and reflux nephropathy, its relationship to each of these clinical entities is poorly understood. Mutations in genes expressed by the developing kidney and urinary tract can cause VUR in mice, and some of these same genes have been identified in humans with VUR. By discovering the genes that are associated with VUR, new hypotheses will be generated such that, eventually, the relationship between VUR and its complications will be understood.

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Acknowledgements

We thank D.B. Myburgh for help with figure design and A.K. Ryan for comments and discussion on the manuscript. IRG is a recipient of an FRSQ Chercheur-Boursier Clinicien salary award. IJM is a recipient of an FRSQ doctoral award. This work is supported by an operating grant from the Kidney Foundation of Canada (IRG).

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  1. Department of Pediatrics and Human Genetics, McGill University, Montreal, Quebec, H3A 2T5, Canada

    Inga J. Murawski & Indra R. Gupta

  2. Montreal Children’s Hospital, 2300 Tupper Street, H3H 1P3, Montreal, Quebec, Canada

    Indra R. Gupta

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  1. Inga J. Murawski
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  2. Indra R. Gupta
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Correspondence to Indra R. Gupta.

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Murawski, I.J., Gupta, I.R. Gene discovery and vesicoureteric reflux. Pediatr Nephrol 23, 1021–1027 (2008). https://doi.org/10.1007/s00467-007-0704-y

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