Human Molecular Genetics, Vol 5, 1425-1429, Copyright © 1996 by Oxford University Press
MR Eccles, RR Bailey, GD Abbott and MJ Sullivan
Primary vesicoureteric reflux (VUR) is one of the more common genetic
disorders. Little is yet known about the genetics of this potentially
manageable childhood condition, which is characterised by regurgitation of
urine from the bladder to the kidney. The VUR phenotype is associated with
shortness of the submucosal segment of the ureter due to congenital lateral
ectopia of the ureteric orifice. VUR is found in 30-50% of infants and
young children with a urinary tract infection. A serious concern in
families with an affected patient is that approximately one half of
siblings or offspring will be affected, but up to a half of these affected
siblings and offspring may be asymptomatic in childhood. If left untreated,
these patients may present later in life with proteinuria, hypertension or
renal failure. VUR is the commonest cause of end-stage renal failure in
children, and an important cause in adults. As the kidney damage resulting
from severe VUR is preventable, early detection is desirable. The
techniques for clinical diagnosis are invasive and costly, reinforcing the
importance of identification of a gene for VUR to facilitate genetic
screening. Although family studies suggest a major dominant gene, the
inheritance pattern is still a matter of debate. In rare instances, VUR
occurs in association with other diseases, such as the coloboma-
ureteric-renal syndrome, which is caused by a PAX2 gene mutation. In this
review, we present evidence that this common disorder may be caused by
mutations in the developmental pathway of which the PAX2 gene forms a part.
REVIEWS
Unravelling the genetics of vesicoureteric reflux: a common familial disorder
Department of Biochemistry, University of Otago, Dunedin, New Zealand.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  H Kelly, C M Molony, J M Darlow, M E Pirker, A Yoneda, A J Green, P Puri, and D E Barton A genome-wide scan for genes involved in primary vesicoureteric reflux J. Med. Genet., November 1, 2007; 44(11): 710 - 717. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. R. Vats, C. Ishwad, I. Singla, A. Vats, R. Ferrell, D. Ellis, M. Moritz, U. Surti, P. Jayakar, D. R. Frederick, et al. A Locus for Renal Malformations Including Vesico-Ureteric Reflux on Chromosome 13q33-34 J. Am. Soc. Nephrol., April 1, 2006; 17(4): 1158 - 1167. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Fletcher, M. Hu, Y. Berman, F. Collins, J. Grigg, M. McIver, H. Juppner, and S. I. Alexander Multicystic Dysplastic Kidney and Variable Phenotype in a Family with a Novel Deletion Mutation of PAX2 J. Am. Soc. Nephrol., September 1, 2005; 16(9): 2754 - 2761. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Sanna-Cherchi, A. Reese, T. Hensle, G. Caridi, C. Izzi, Y. Y. Kim, A. Konka, L. Murer, F. Scolari, R. Ravazzolo, et al. Familial Vesicoureteral Reflux: Testing Replication of Linkage in Seven New Multigenerational Kindreds J. Am. Soc. Nephrol., June 1, 2005; 16(6): 1781 - 1787. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 O. H. Yu, I. J. Murawski, D. B. Myburgh, and I. R. Gupta Overexpression of RET leads to vesicoureteric reflux in mice Am J Physiol Renal Physiol, December 1, 2004; 287(6): F1123 - F1130. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 V. Garcia-Nieto, B. Siverio, M. Monge, C. Toledo, and N. Molini Urinary calcium excretion in children with vesicoureteral reflux Nephrol. Dial. Transplant., March 1, 2003; 18(3): 507 - 511. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. Izzedine, B. Bodaghi, V. Launay-Vacher, and G. Deray Eye and Kidney: From Clinical Findings to Genetic Explanations J. Am. Soc. Nephrol., February 1, 2003; 14(2): 516 - 529. [Full Text] [PDF]
|
|
|
|
 |
|
 P. Hu, F.-M. Deng, F.-X. Liang, C.-M. Hu, A. B. Auerbach, E. Shapiro, X.-R. Wu, B. Kachar, and T.-T. Sun Ablation of Uroplakin III Gene Results in Small Urothelial Plaques, Urothelial Leakage, and Vesicoureteral Reflux J. Cell Biol., November 27, 2000; 151(5): 961 - 972. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. C. POPE IV, J. W. BROCK III, M. C. ADAMS, F. D. STEPHENS, and I. ICHIKAWA How They Begin and How They End: Classic and New Theories for theDevelopment and Deterioration of Congenital Anomalies of the Kidney andUrinary Tract, CAKUT J. Am. Soc. Nephrol., September 1, 1999; 10(9): 2018 - 2028. [Full Text]
|
|