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Published in: Pediatric Nephrology 9/2011

01-09-2011 | Review

Vesico-ureteric reflux: using mouse models to understand a common congenital urinary tract defect

Authors: Inga J. Murawski, Christine L. Watt, Indra R. Gupta

Published in: Pediatric Nephrology | Issue 9/2011

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Abstract

Vesico-ureteric reflux (VUR) is a common congenital urinary tract defect in which urine flows retrogradely from the bladder to the kidneys because of an abnormally formed uretero-vesical junction. It is associated with recurrent urinary tract infections, renal hypo/dysplasia, reflux nephropathy, hypertension, and end-stage renal disease. In humans, VUR is genetically and phenotypically heterogeneous, encompassing diverse renal and urinary tract phenotypes. To understand the significance of these phenotypes, we and others have used the mouse as a model organism and this has led to the identification of new candidate genes. Through careful phenotypic analysis of these models, a new understanding of the genetics and biology of VUR is now underway.
Literature
1.
go back to reference Campbell M (2002) Campbell’s urology, 8th edn. Saunders Harcourt, Philadelphia Campbell M (2002) Campbell’s urology, 8th edn. Saunders Harcourt, Philadelphia
2.
go back to reference Atiyeh B, Husmann D, Baum M (1993) Contralateral renal abnormalities in patients with renal agenesis and noncystic renal dysplasia. Pediatrics 91(4):812–815PubMed Atiyeh B, Husmann D, Baum M (1993) Contralateral renal abnormalities in patients with renal agenesis and noncystic renal dysplasia. Pediatrics 91(4):812–815PubMed
3.
go back to reference American Academy of Pediatrics (1999) Practice parameter: the diagnosis, treatment, and evaluation of the initial urinary tract infection in febrile infants and young children. American Academy of Pediatrics. Committee on Quality Improvement. Subcommittee on Urinary Tract Infection. Pediatrics. 103(4 Pt 1):843–852 American Academy of Pediatrics (1999) Practice parameter: the diagnosis, treatment, and evaluation of the initial urinary tract infection in febrile infants and young children. American Academy of Pediatrics. Committee on Quality Improvement. Subcommittee on Urinary Tract Infection. Pediatrics. 103(4 Pt 1):843–852
4.
go back to reference Siomou E, Papadopoulou F, Kollios KD, Photopoulos A, Evagelidou E, Androulakakis P, Siamopoulou A (2006) Duplex collecting system diagnosed during the first 6 years of life after a first urinary tract infection: a study of 63 children. J Urol 175(2):678–681; discussion 681–672CrossRefPubMed Siomou E, Papadopoulou F, Kollios KD, Photopoulos A, Evagelidou E, Androulakakis P, Siamopoulou A (2006) Duplex collecting system diagnosed during the first 6 years of life after a first urinary tract infection: a study of 63 children. J Urol 175(2):678–681; discussion 681–672CrossRefPubMed
5.
go back to reference Guarino N, Tadini B, Camardi P, Silvestro L, Lace R, Bianchi M (2004) The incidence of associated urological abnormalities in children with renal ectopia. J Urol 172(4 Pt 2):1757–1759, discussion 1759CrossRefPubMed Guarino N, Tadini B, Camardi P, Silvestro L, Lace R, Bianchi M (2004) The incidence of associated urological abnormalities in children with renal ectopia. J Urol 172(4 Pt 2):1757–1759, discussion 1759CrossRefPubMed
6.
7.
go back to reference Chapman CJ, Bailey RR, Janus ED, Abbott GD, Lynn KL (1985) Vesicoureteric reflux: segregation analysis. Am J Med Genet 20(4):577–584CrossRefPubMed Chapman CJ, Bailey RR, Janus ED, Abbott GD, Lynn KL (1985) Vesicoureteric reflux: segregation analysis. Am J Med Genet 20(4):577–584CrossRefPubMed
8.
go back to reference King LR, Kazmi SO, Belman AB (1974) Natural history of vesicoureteral reflux. Outcome of a trial of nonoperative therapy. Urol Clin North Am 1(3):441–455PubMed King LR, Kazmi SO, Belman AB (1974) Natural history of vesicoureteral reflux. Outcome of a trial of nonoperative therapy. Urol Clin North Am 1(3):441–455PubMed
9.
go back to reference Johnston JH (1962) Vesico-ureteric reflux: its anatomical mechanism, causation, effects and treatment in the child. Ann R Coll Surg Engl 30:324–341PubMedPubMedCentral Johnston JH (1962) Vesico-ureteric reflux: its anatomical mechanism, causation, effects and treatment in the child. Ann R Coll Surg Engl 30:324–341PubMedPubMedCentral
10.
go back to reference Paquin AJ Jr (1959) Ureterovesical anastomosis: the description and evaluation of a technique. J Urol 82:573–583CrossRefPubMed Paquin AJ Jr (1959) Ureterovesical anastomosis: the description and evaluation of a technique. J Urol 82:573–583CrossRefPubMed
11.
go back to reference Tanagho EA, Meyers FH, Smith DR (1968) The trigone: anatomical and physiological considerations. I. In relation to the ureterovesical junction. J Urol 100(5):623–632CrossRefPubMed Tanagho EA, Meyers FH, Smith DR (1968) The trigone: anatomical and physiological considerations. I. In relation to the ureterovesical junction. J Urol 100(5):623–632CrossRefPubMed
13.
go back to reference Vermillion CD, Heale WF (1973) Position and configuration of the ureteral orifice and its relationship to renal scarring in adults. J Urol 109(4):579–584CrossRefPubMed Vermillion CD, Heale WF (1973) Position and configuration of the ureteral orifice and its relationship to renal scarring in adults. J Urol 109(4):579–584CrossRefPubMed
14.
go back to reference Lyon RP, Marshall S, Tanagho EA (1969) The ureteral orifice: its configuration and competency. J Urol 102(4):504–509CrossRefPubMed Lyon RP, Marshall S, Tanagho EA (1969) The ureteral orifice: its configuration and competency. J Urol 102(4):504–509CrossRefPubMed
15.
go back to reference Ardissino G, Avolio L, Dacco V, Testa S, Marra G, Vigano S, Loi S, Caione P, De Castro R, De Pascale S, Marras E, Riccipetitoni G, Selvaggio G, Pedotti P, Claris-Appiani A, Ciofani A, Dello Strologo L, Lama G, Montini G, Verrina E (2004) Long-term outcome of vesicoureteral reflux associated chronic renal failure in children. Data from the ItalKid Project. J Urol 172(1):305–310CrossRefPubMed Ardissino G, Avolio L, Dacco V, Testa S, Marra G, Vigano S, Loi S, Caione P, De Castro R, De Pascale S, Marras E, Riccipetitoni G, Selvaggio G, Pedotti P, Claris-Appiani A, Ciofani A, Dello Strologo L, Lama G, Montini G, Verrina E (2004) Long-term outcome of vesicoureteral reflux associated chronic renal failure in children. Data from the ItalKid Project. J Urol 172(1):305–310CrossRefPubMed
16.
go back to reference Marra G, Oppezzo C, Ardissino G, Dacco V, Testa S, Avolio L, Taioli E, Sereni F (2004) Severe vesicoureteral reflux and chronic renal failure: a condition peculiar to male gender? Data from the ItalKid Project. J Pediatr 144(5):677–681CrossRefPubMed Marra G, Oppezzo C, Ardissino G, Dacco V, Testa S, Avolio L, Taioli E, Sereni F (2004) Severe vesicoureteral reflux and chronic renal failure: a condition peculiar to male gender? Data from the ItalKid Project. J Pediatr 144(5):677–681CrossRefPubMed
17.
go back to reference Zerati Filho M, Calado AA, Barroso U Jr, Amaro JL (2007) Spontaneous resolution rates of vesicoureteral reflux in Brazilian children: a 30-year experience. Int Braz J Urol 33(2):204–212, discussion 213–205CrossRefPubMed Zerati Filho M, Calado AA, Barroso U Jr, Amaro JL (2007) Spontaneous resolution rates of vesicoureteral reflux in Brazilian children: a 30-year experience. Int Braz J Urol 33(2):204–212, discussion 213–205CrossRefPubMed
18.
go back to reference El-Khatib MT, Becker GJ, Kincaid-Smith PS (1990) Reflux nephropathy and primary vesicoureteric reflux in adults. Q J Med 77(284):1241–1253CrossRefPubMed El-Khatib MT, Becker GJ, Kincaid-Smith PS (1990) Reflux nephropathy and primary vesicoureteric reflux in adults. Q J Med 77(284):1241–1253CrossRefPubMed
19.
go back to reference Stephens FD (1972) Urologic aspects of recurrent urinary tract infection in children. J Pediatr 80(5):725–737CrossRefPubMed Stephens FD (1972) Urologic aspects of recurrent urinary tract infection in children. J Pediatr 80(5):725–737CrossRefPubMed
20.
go back to reference Hiraoka M, Hori C, Tsukahara H, Kasuga K, Ishihara Y, Kotsuji F, Mayumi M (1999) Vesicoureteral reflux in male and female neonates as detected by voiding ultrasonography. Kidney Int 55(4):1486–1490CrossRefPubMed Hiraoka M, Hori C, Tsukahara H, Kasuga K, Ishihara Y, Kotsuji F, Mayumi M (1999) Vesicoureteral reflux in male and female neonates as detected by voiding ultrasonography. Kidney Int 55(4):1486–1490CrossRefPubMed
21.
go back to reference Hodson EM, Wheeler DM, Vimalchandra D, Smith GH, Craig JC (2007) Interventions for primary vesicoureteric reflux. Cochrane Database Syst Rev. 3):CD001532 Hodson EM, Wheeler DM, Vimalchandra D, Smith GH, Craig JC (2007) Interventions for primary vesicoureteric reflux. Cochrane Database Syst Rev. 3):CD001532
22.
go back to reference [no authors] (1981) Medical versus surgical treatment of primary vesicoureteral reflux: a prospective international reflux study in children. J Urol 125(3):277–283 [no authors] (1981) Medical versus surgical treatment of primary vesicoureteral reflux: a prospective international reflux study in children. J Urol 125(3):277–283
23.
go back to reference Fanos V, Cataldi L (2004) Antibiotics or surgery for vesicoureteric reflux in children. Lancet 364(9446):1720–1722CrossRefPubMed Fanos V, Cataldi L (2004) Antibiotics or surgery for vesicoureteric reflux in children. Lancet 364(9446):1720–1722CrossRefPubMed
24.
go back to reference Mor Y, Leibovitch I, Zalts R, Lotan D, Jonas P, Ramon J (2003) Analysis of the long-term outcome of surgically corrected vesico-ureteric reflux. BJU Int 92(1):97–100CrossRefPubMed Mor Y, Leibovitch I, Zalts R, Lotan D, Jonas P, Ramon J (2003) Analysis of the long-term outcome of surgically corrected vesico-ureteric reflux. BJU Int 92(1):97–100CrossRefPubMed
25.
go back to reference Craig JC, Irwig LM, Knight JF, Roy LP (2000) Does treatment of vesicoureteric reflux in childhood prevent end-stage renal disease attributable to reflux nephropathy? Pediatrics 105(6):1236–1241CrossRefPubMed Craig JC, Irwig LM, Knight JF, Roy LP (2000) Does treatment of vesicoureteric reflux in childhood prevent end-stage renal disease attributable to reflux nephropathy? Pediatrics 105(6):1236–1241CrossRefPubMed
26.
go back to reference Batourina E, Choi C, Paragas N, Bello N, Hensle T, Costantini FD, Schuchardt A, Bacallao RL, Mendelsohn CL (2002) Distal ureter morphogenesis depends on epithelial cell remodeling mediated by vitamin A and Ret. Nat Genet 32(1):109–115CrossRefPubMed Batourina E, Choi C, Paragas N, Bello N, Hensle T, Costantini FD, Schuchardt A, Bacallao RL, Mendelsohn CL (2002) Distal ureter morphogenesis depends on epithelial cell remodeling mediated by vitamin A and Ret. Nat Genet 32(1):109–115CrossRefPubMed
27.
go back to reference Vize PD, Woolf AS, Bard JBL (ed) (2003) The kidney from normal development to congenital disease. Elsevier Science, San Diego Vize PD, Woolf AS, Bard JBL (ed) (2003) The kidney from normal development to congenital disease. Elsevier Science, San Diego
28.
go back to reference Mackie GG (1978) Abnormalities of the ureteral bud. Urol Clin North Am 5(1):161–174PubMed Mackie GG (1978) Abnormalities of the ureteral bud. Urol Clin North Am 5(1):161–174PubMed
29.
go back to reference Mackie GG, Stephens FD (1975) Duplex kidneys: a correlation of renal dysplasia with position of the ureteral orifice. J Urol 114(2):274–280CrossRefPubMed Mackie GG, Stephens FD (1975) Duplex kidneys: a correlation of renal dysplasia with position of the ureteral orifice. J Urol 114(2):274–280CrossRefPubMed
30.
go back to reference Yu OH, Murawski IJ, Myburgh DB, Gupta IR (2004) Overexpression of RET leads to vesicoureteric reflux in mice. Am J Physiol Renal Physiol 287(6):F1123–F1130CrossRefPubMed Yu OH, Murawski IJ, Myburgh DB, Gupta IR (2004) Overexpression of RET leads to vesicoureteric reflux in mice. Am J Physiol Renal Physiol 287(6):F1123–F1130CrossRefPubMed
31.
go back to reference Pedersen A, Skjong C, Shawlot W (2005) Lim 1 is required for nephric duct extension and ureteric bud morphogenesis. Dev Biol 288(2):571–581CrossRefPubMed Pedersen A, Skjong C, Shawlot W (2005) Lim 1 is required for nephric duct extension and ureteric bud morphogenesis. Dev Biol 288(2):571–581CrossRefPubMed
32.
go back to reference Nishimura H, Yerkes E, Hohenfellner K, Miyazaki Y, Ma J, Hunley TE, Yoshida H, Ichiki T, Threadgill D, Phillips JA III, Hogan BM, Fogo A, Brock JW III, Inagami T, Ichikawa I (1999) Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men. Mol Cell 3(1):1–10CrossRefPubMed Nishimura H, Yerkes E, Hohenfellner K, Miyazaki Y, Ma J, Hunley TE, Yoshida H, Ichiki T, Threadgill D, Phillips JA III, Hogan BM, Fogo A, Brock JW III, Inagami T, Ichikawa I (1999) Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men. Mol Cell 3(1):1–10CrossRefPubMed
33.
go back to reference Murawski IJ, Myburgh DB, Favor J, Gupta IR (2007) Vesico-ureteric reflux and urinary tract development in the Pax21Neu+/− mouse. Am J Physiol Renal Physiol 293(5):F1736–F1745CrossRefPubMed Murawski IJ, Myburgh DB, Favor J, Gupta IR (2007) Vesico-ureteric reflux and urinary tract development in the Pax21Neu+/− mouse. Am J Physiol Renal Physiol 293(5):F1736–F1745CrossRefPubMed
34.
go back to reference Hains DS, Sims-Lucas S, Carpenter A, Saha M, Murawski I, Kish K, Gupta I, McHugh K, Bates CM (2010) High incidence of vesicoureteral reflux in mice with Fgfr2 deletion in kidney mesenchyma. J Urol 183(5):2077–2084CrossRefPubMedPubMedCentral Hains DS, Sims-Lucas S, Carpenter A, Saha M, Murawski I, Kish K, Gupta I, McHugh K, Bates CM (2010) High incidence of vesicoureteral reflux in mice with Fgfr2 deletion in kidney mesenchyma. J Urol 183(5):2077–2084CrossRefPubMedPubMedCentral
35.
go back to reference Stephens FD, Joske RA, Simmons RT (1955) Megaureter with vesico-ureteric reflux in twins. Aust N Z J Surg 24(3):192–194CrossRefPubMed Stephens FD, Joske RA, Simmons RT (1955) Megaureter with vesico-ureteric reflux in twins. Aust N Z J Surg 24(3):192–194CrossRefPubMed
36.
go back to reference King LR (1972) Vesicoureteral reflux: a radiographic sign common to multiple diseases. JAMA 220(6):854CrossRefPubMed King LR (1972) Vesicoureteral reflux: a radiographic sign common to multiple diseases. JAMA 220(6):854CrossRefPubMed
38.
go back to reference Kaefer M, Curran M, Treves ST, Bauer S, Hendren WH, Peters CA, Atala A, Diamond D, Retik A (2000) Sibling vesicoureteral reflux in multiple gestation births. Pediatrics 105(4 Pt 1):800–804CrossRefPubMed Kaefer M, Curran M, Treves ST, Bauer S, Hendren WH, Peters CA, Atala A, Diamond D, Retik A (2000) Sibling vesicoureteral reflux in multiple gestation births. Pediatrics 105(4 Pt 1):800–804CrossRefPubMed
39.
go back to reference Cordell HJ, Darlay R, Charoen P, Stewart A, Gullett AM, Lambert HJ, Malcolm S, Feather SA, Goodship TH, Woolf AS, Kenda RB, Goodship JA (2010) Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux. J Am Soc Nephrol 21(1):113–123CrossRefPubMedPubMedCentral Cordell HJ, Darlay R, Charoen P, Stewart A, Gullett AM, Lambert HJ, Malcolm S, Feather SA, Goodship TH, Woolf AS, Kenda RB, Goodship JA (2010) Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux. J Am Soc Nephrol 21(1):113–123CrossRefPubMedPubMedCentral
40.
go back to reference Feather SA, Malcolm S, Woolf AS, Wright V, Blaydon D, Reid CJ, Flinter FA, Proesmans W, Devriendt K, Carter J, Warwicker P, Goodship TH, Goodship JA (2000) Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1. Am J Hum Genet 66(4):1420–1425CrossRefPubMedPubMedCentral Feather SA, Malcolm S, Woolf AS, Wright V, Blaydon D, Reid CJ, Flinter FA, Proesmans W, Devriendt K, Carter J, Warwicker P, Goodship TH, Goodship JA (2000) Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1. Am J Hum Genet 66(4):1420–1425CrossRefPubMedPubMedCentral
41.
go back to reference Kelly H, Molony CM, Darlow JM, Pirker ME, Yoneda A, Green AJ, Puri P, Barton DE (2007) A genome-wide scan for genes involved in primary vesicoureteric reflux. J Med Genet 44(11):710–717CrossRefPubMedPubMedCentral Kelly H, Molony CM, Darlow JM, Pirker ME, Yoneda A, Green AJ, Puri P, Barton DE (2007) A genome-wide scan for genes involved in primary vesicoureteric reflux. J Med Genet 44(11):710–717CrossRefPubMedPubMedCentral
42.
go back to reference Sanna-Cherchi S, Reese A, Hensle T, Caridi G, Izzi C, Kim YY, Konka A, Murer L, Scolari F, Ravazzolo R, Ghiggeri GM, Gharavi AG (2005) Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds. J Am Soc Nephrol 16:1781–1787CrossRefPubMed Sanna-Cherchi S, Reese A, Hensle T, Caridi G, Izzi C, Kim YY, Konka A, Murer L, Scolari F, Ravazzolo R, Ghiggeri GM, Gharavi AG (2005) Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds. J Am Soc Nephrol 16:1781–1787CrossRefPubMed
43.
go back to reference Yang Y, Letendre J, Houle A, Richter A (2008) RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec. Hum Mutat 29(5):695–702CrossRefPubMed Yang Y, Letendre J, Houle A, Richter A (2008) RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec. Hum Mutat 29(5):695–702CrossRefPubMed
44.
go back to reference Yim HE, Bae IS, Yoo KH, Hong YS, Lee JW (2007) Genetic control of VEGF and TGF-beta1 gene polymorphisms in childhood urinary tract infection and vesicoureteral reflux. Pediatr Res 62(2):183–187CrossRefPubMed Yim HE, Bae IS, Yoo KH, Hong YS, Lee JW (2007) Genetic control of VEGF and TGF-beta1 gene polymorphisms in childhood urinary tract infection and vesicoureteral reflux. Pediatr Res 62(2):183–187CrossRefPubMed
45.
go back to reference Bertoli-Avella AM, Conte ML, Punzo F, de Graaf BM, Lama G, La Manna A, Polito C, Grassia C, Nobili B, Rambaldi PF, Oostra BA, Perrotta S (2008) ROBO2 gene variants are associated with familial vesicoureteral reflux. J Am Soc Nephrol 19(4):825–831CrossRefPubMedPubMedCentral Bertoli-Avella AM, Conte ML, Punzo F, de Graaf BM, Lama G, La Manna A, Polito C, Grassia C, Nobili B, Rambaldi PF, Oostra BA, Perrotta S (2008) ROBO2 gene variants are associated with familial vesicoureteral reflux. J Am Soc Nephrol 19(4):825–831CrossRefPubMedPubMedCentral
46.
go back to reference Ogata T, Muroya K, Sasagawa I, Kosho T, Wakui K, Sakazume S, Ito K, Matsuo N, Ohashi H, Nagai T (2000) Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. Kidney Int 58(6):2281–2290CrossRefPubMed Ogata T, Muroya K, Sasagawa I, Kosho T, Wakui K, Sakazume S, Ito K, Matsuo N, Ohashi H, Nagai T (2000) Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. Kidney Int 58(6):2281–2290CrossRefPubMed
47.
go back to reference Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL (2007) Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet 80(4):616–632CrossRefPubMedPubMedCentral Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL (2007) Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet 80(4):616–632CrossRefPubMedPubMedCentral
48.
go back to reference Vats KR, Ishwad C, Singla I, Vats A, Ferrell R, Ellis D, Moritz M, Surti U, Jayakar P, Frederick DR, Vats AN (2006) A locus for renal malformations including vesico-ureteric reflux on chromosome 13q33-34. J Am Soc Nephrol 17(4):1158–1167CrossRefPubMed Vats KR, Ishwad C, Singla I, Vats A, Ferrell R, Ellis D, Moritz M, Surti U, Jayakar P, Frederick DR, Vats AN (2006) A locus for renal malformations including vesico-ureteric reflux on chromosome 13q33-34. J Am Soc Nephrol 17(4):1158–1167CrossRefPubMed
49.
go back to reference Anderson NG, Abbott GD, Mogridge N, Allan RB, Maling TM, Wells JE (1997) Vesicoureteric reflux in the newborn: relationship to fetal renal pelvic diameter. Pediatr Nephrol 11(5):610–616CrossRefPubMed Anderson NG, Abbott GD, Mogridge N, Allan RB, Maling TM, Wells JE (1997) Vesicoureteric reflux in the newborn: relationship to fetal renal pelvic diameter. Pediatr Nephrol 11(5):610–616CrossRefPubMed
50.
go back to reference Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR (1995) Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 9(4):358–364CrossRefPubMed Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR (1995) Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 9(4):358–364CrossRefPubMed
51.
go back to reference Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F (2004) SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci USA 101(21):8090–8095CrossRefPubMedPubMedCentral Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F (2004) SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci USA 101(21):8090–8095CrossRefPubMedPubMedCentral
52.
go back to reference Heimler A, Lieber E (1986) Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred. Am J Med Genet 25(1):15–27CrossRefPubMed Heimler A, Lieber E (1986) Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred. Am J Med Genet 25(1):15–27CrossRefPubMed
53.
54.
go back to reference Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K (2000) GATA3 haplo-insufficiency causes human HDR syndrome. Nature 406(6794):419–422CrossRefPubMed Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K (2000) GATA3 haplo-insufficiency causes human HDR syndrome. Nature 406(6794):419–422CrossRefPubMed
55.
go back to reference Van Eerde AM, Koeleman BP, van de Kamp JM, de Jong TP, Wijmenga C, Giltay JC (2007) Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux. Pediatr Nephrol 22(8):1129–1133PubMedPubMedCentral Van Eerde AM, Koeleman BP, van de Kamp JM, de Jong TP, Wijmenga C, Giltay JC (2007) Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux. Pediatr Nephrol 22(8):1129–1133PubMedPubMedCentral
56.
go back to reference Conte ML, Bertoli-Avella AM, de Graaf BM, Punzo F, Lama G, La Manna A, Grassia C, Rambaldi PF, Oostra BA, Perrotta S (2008) A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity. Pediatr Nephrol 23(4):587–595CrossRefPubMedPubMedCentral Conte ML, Bertoli-Avella AM, de Graaf BM, Punzo F, Lama G, La Manna A, Grassia C, Rambaldi PF, Oostra BA, Perrotta S (2008) A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity. Pediatr Nephrol 23(4):587–595CrossRefPubMedPubMedCentral
57.
go back to reference Briggs CE, Guo CY, Schoettler C, Rosoklija I, Silva A, Bauer SB, Retik AB, Kunkel L, Nguyen HT (2009) A genome scan in affected sib-pairs with familial vesicoureteral reflux identifies a locus on chromosome 5. Eur J Hum Genet 18:245–250CrossRefPubMedPubMedCentral Briggs CE, Guo CY, Schoettler C, Rosoklija I, Silva A, Bauer SB, Retik AB, Kunkel L, Nguyen HT (2009) A genome scan in affected sib-pairs with familial vesicoureteral reflux identifies a locus on chromosome 5. Eur J Hum Genet 18:245–250CrossRefPubMedPubMedCentral
58.
go back to reference Kelly H, Barton D, Molony C, Puri P (2009) Linkage analysis of candidate genes in families with vesicoureteral reflux. J Urol 182 [4 Suppl]:1669–1672CrossRefPubMed Kelly H, Barton D, Molony C, Puri P (2009) Linkage analysis of candidate genes in families with vesicoureteral reflux. J Urol 182 [4 Suppl]:1669–1672CrossRefPubMed
59.
go back to reference Song JT, Ritchey ML, Zerin JM, Bloom DA (1995) Incidence of vesicoureteral reflux in children with unilateral renal agenesis. J Urol 153(4):1249–1251CrossRefPubMed Song JT, Ritchey ML, Zerin JM, Bloom DA (1995) Incidence of vesicoureteral reflux in children with unilateral renal agenesis. J Urol 153(4):1249–1251CrossRefPubMed
60.
go back to reference Cussen LJ (1971) Vesicoureteral reflux in children. Frequency and associated urologic abnormalities. Invest Urol 8(6):640–644PubMed Cussen LJ (1971) Vesicoureteral reflux in children. Frequency and associated urologic abnormalities. Invest Urol 8(6):640–644PubMed
61.
go back to reference Ambrose SS, Parrott TS, Woodard JR, Campbell WG Jr (1980) Observations on the small kidney associated with vesicoureteral reflux. J Urol 123(3):349–351CrossRefPubMed Ambrose SS, Parrott TS, Woodard JR, Campbell WG Jr (1980) Observations on the small kidney associated with vesicoureteral reflux. J Urol 123(3):349–351CrossRefPubMed
62.
go back to reference Caione P, Ciofetta G, Collura G, Morano S, Capozza N (2004) Renal damage in vesico-ureteric reflux. BJU Int 93(4):591–595CrossRefPubMed Caione P, Ciofetta G, Collura G, Morano S, Capozza N (2004) Renal damage in vesico-ureteric reflux. BJU Int 93(4):591–595CrossRefPubMed
63.
go back to reference Godley ML, Desai D, Yeung CK, Dhillon HK, Duffy PG, Ransley PG (2001) The relationship between early renal status, and the resolution of vesico-ureteric reflux and bladder function at 16 months. BJU Int 87(6):457–462CrossRefPubMed Godley ML, Desai D, Yeung CK, Dhillon HK, Duffy PG, Ransley PG (2001) The relationship between early renal status, and the resolution of vesico-ureteric reflux and bladder function at 16 months. BJU Int 87(6):457–462CrossRefPubMed
64.
go back to reference Yeung CK, Godley ML, Dhillon HK, Gordon I, Duffy PG, Ransley PG (1997) The characteristics of primary vesico-ureteric reflux in male and female infants with pre-natal hydronephrosis. Br J Urol 80(2):319–327CrossRefPubMed Yeung CK, Godley ML, Dhillon HK, Gordon I, Duffy PG, Ransley PG (1997) The characteristics of primary vesico-ureteric reflux in male and female infants with pre-natal hydronephrosis. Br J Urol 80(2):319–327CrossRefPubMed
65.
go back to reference Gordon I (1995) Vesico-ureteric reflux, urinary-tract infection, and renal damage in children. Lancet 346(8973):489–490CrossRefPubMed Gordon I (1995) Vesico-ureteric reflux, urinary-tract infection, and renal damage in children. Lancet 346(8973):489–490CrossRefPubMed
66.
go back to reference Sargent MA (2000) What is the normal prevalence of vesicoureteral reflux? Pediatr Radiol 30(9):587–593CrossRefPubMed Sargent MA (2000) What is the normal prevalence of vesicoureteral reflux? Pediatr Radiol 30(9):587–593CrossRefPubMed
67.
go back to reference Edwards D, Normand IC, Prescod N, Smellie JM (1977) Disappearance of vesicoureteric reflux during long-term prophylaxis of urinary tract infection in children. Br Med J 2(6082):285–288CrossRefPubMedPubMedCentral Edwards D, Normand IC, Prescod N, Smellie JM (1977) Disappearance of vesicoureteric reflux during long-term prophylaxis of urinary tract infection in children. Br Med J 2(6082):285–288CrossRefPubMedPubMedCentral
68.
go back to reference Peters LL, Robledo RF, Bult CJ, Churchill GA, Paigen BJ, Svenson KL (2007) The mouse as a model for human biology: a resource guide for complex trait analysis. Nat Rev Genet 8(1):58–69CrossRefPubMed Peters LL, Robledo RF, Bult CJ, Churchill GA, Paigen BJ, Svenson KL (2007) The mouse as a model for human biology: a resource guide for complex trait analysis. Nat Rev Genet 8(1):58–69CrossRefPubMed
69.
70.
go back to reference Waterston RH, Lindblad-Toh K, Birney E, Rogers J, Abril JF, Agarwal P, Agarwala R, Ainscough R, Alexandersson M, An P, Antonarakis SE, Attwood J, Baertsch R, Bailey J, Barlow K, Beck S, Berry E, Birren B, Bloom T, Bork P, Botcherby M, Bray N, Brent MR, Brown DG, Brown SD, Bult C, Burton J, Butler J, Campbell RD, Carninci P, Cawley S, Chiaromonte F, Chinwalla AT, Church DM, Clamp M, Clee C, Collins FS, Cook LL, Copley RR, Coulson A, Couronne O, Cuff J, Curwen V, Cutts T, Daly M, David R, Davies J, Delehaunty KD, Deri J, Dermitzakis ET, Dewey C, Dickens NJ, Diekhans M, Dodge S, Dubchak I, Dunn DM, Eddy SR, Elnitski L, Emes RD, Eswara P, Eyras E, Felsenfeld A, Fewell GA, Flicek P, Foley K, Frankel WN, Fulton LA, Fulton RS, Furey TS, Gage D, Gibbs RA, Glusman G, Gnerre S, Goldman N, Goodstadt L, Grafham D, Graves TA, Green ED, Gregory S, Guigo R, Guyer M, Hardison RC, Haussler D, Hayashizaki Y, Hillier LW, Hinrichs A, Hlavina W, Holzer T, Hsu F, Hua A, Hubbard T, Hunt A, Jackson I, Jaffe DB, Johnson LS, Jones M, Jones TA, Joy A, Kamal M, Karlsson EK, Karolchik D, Kasprzyk A, Kawai J, Keibler E, Kells C, Kent WJ, Kirby A, Kolbe DL, Korf I, Kucherlapati RS, Kulbokas EJ, Kulp D, Landers T, Leger JP, Leonard S, Letunic I, Levine R, Li J, Li M, Lloyd C, Lucas S, Ma B, Maglott DR, Mardis ER, Matthews L, Mauceli E, Mayer JH, McCarthy M, McCombie WR, McLaren S, McLay K, McPherson JD, Meldrim J, Meredith B, Mesirov JP, Miller W, Miner TL, Mongin E, Montgomery KT, Morgan M, Mott R, Mullikin JC, Muzny DM, Nash WE, Nelson JO, Nhan MN, Nicol R, Ning Z, Nusbaum C, O’Connor MJ, Okazaki Y, Oliver K, Overton-Larty E, Pachter L, Parra G, Pepin KH, Peterson J, Pevzner P, Plumb R, Pohl CS, Poliakov A, Ponce TC, Ponting CP, Potter S, Quail M, Reymond A, Roe BA, Roskin KM, Rubin EM, Rust AG, Santos R, Sapojnikov V, Schultz B, Schultz J, Schwartz MS, Schwartz S, Scott C, Seaman S, Searle S, Sharpe T, Sheridan A, Shownkeen R, Sims S, Singer JB, Slater G, Smit A, Smith DR, Spencer B, Stabenau A, Stange-Thomann N, Sugnet C, Suyama M, Tesler G, Thompson J, Torrents D, Trevaskis E, Tromp J, Ucla C, Ureta-Vidal A, Vinson JP, Von Niederhausern AC, Wade CM, Wall M, Weber RJ, Weiss RB, Wendl MC, West AP, Wetterstrand K, Wheeler R, Whelan S, Wierzbowski J, Willey D, Williams S, Wilson RK, Winter E, Worley KC, Wyman D, Yang S, Yang SP, Zdobnov EM, Zody MC, Lander ES (2002) Initial sequencing and comparative analysis of the mouse genome. Nature 420(6915):520–562CrossRefPubMed Waterston RH, Lindblad-Toh K, Birney E, Rogers J, Abril JF, Agarwal P, Agarwala R, Ainscough R, Alexandersson M, An P, Antonarakis SE, Attwood J, Baertsch R, Bailey J, Barlow K, Beck S, Berry E, Birren B, Bloom T, Bork P, Botcherby M, Bray N, Brent MR, Brown DG, Brown SD, Bult C, Burton J, Butler J, Campbell RD, Carninci P, Cawley S, Chiaromonte F, Chinwalla AT, Church DM, Clamp M, Clee C, Collins FS, Cook LL, Copley RR, Coulson A, Couronne O, Cuff J, Curwen V, Cutts T, Daly M, David R, Davies J, Delehaunty KD, Deri J, Dermitzakis ET, Dewey C, Dickens NJ, Diekhans M, Dodge S, Dubchak I, Dunn DM, Eddy SR, Elnitski L, Emes RD, Eswara P, Eyras E, Felsenfeld A, Fewell GA, Flicek P, Foley K, Frankel WN, Fulton LA, Fulton RS, Furey TS, Gage D, Gibbs RA, Glusman G, Gnerre S, Goldman N, Goodstadt L, Grafham D, Graves TA, Green ED, Gregory S, Guigo R, Guyer M, Hardison RC, Haussler D, Hayashizaki Y, Hillier LW, Hinrichs A, Hlavina W, Holzer T, Hsu F, Hua A, Hubbard T, Hunt A, Jackson I, Jaffe DB, Johnson LS, Jones M, Jones TA, Joy A, Kamal M, Karlsson EK, Karolchik D, Kasprzyk A, Kawai J, Keibler E, Kells C, Kent WJ, Kirby A, Kolbe DL, Korf I, Kucherlapati RS, Kulbokas EJ, Kulp D, Landers T, Leger JP, Leonard S, Letunic I, Levine R, Li J, Li M, Lloyd C, Lucas S, Ma B, Maglott DR, Mardis ER, Matthews L, Mauceli E, Mayer JH, McCarthy M, McCombie WR, McLaren S, McLay K, McPherson JD, Meldrim J, Meredith B, Mesirov JP, Miller W, Miner TL, Mongin E, Montgomery KT, Morgan M, Mott R, Mullikin JC, Muzny DM, Nash WE, Nelson JO, Nhan MN, Nicol R, Ning Z, Nusbaum C, O’Connor MJ, Okazaki Y, Oliver K, Overton-Larty E, Pachter L, Parra G, Pepin KH, Peterson J, Pevzner P, Plumb R, Pohl CS, Poliakov A, Ponce TC, Ponting CP, Potter S, Quail M, Reymond A, Roe BA, Roskin KM, Rubin EM, Rust AG, Santos R, Sapojnikov V, Schultz B, Schultz J, Schwartz MS, Schwartz S, Scott C, Seaman S, Searle S, Sharpe T, Sheridan A, Shownkeen R, Sims S, Singer JB, Slater G, Smit A, Smith DR, Spencer B, Stabenau A, Stange-Thomann N, Sugnet C, Suyama M, Tesler G, Thompson J, Torrents D, Trevaskis E, Tromp J, Ucla C, Ureta-Vidal A, Vinson JP, Von Niederhausern AC, Wade CM, Wall M, Weber RJ, Weiss RB, Wendl MC, West AP, Wetterstrand K, Wheeler R, Whelan S, Wierzbowski J, Willey D, Williams S, Wilson RK, Winter E, Worley KC, Wyman D, Yang S, Yang SP, Zdobnov EM, Zody MC, Lander ES (2002) Initial sequencing and comparative analysis of the mouse genome. Nature 420(6915):520–562CrossRefPubMed
71.
go back to reference Hu P, Deng FM, Liang FX, Hu CM, Auerbach AB, Shapiro E, Wu XR, Kachar B, Sun TT (2000) Ablation of uroplakin III gene results in small urothelial plaques, urothelial leakage, and vesicoureteral reflux. J Cell Biol 151(5):961–972CrossRefPubMedPubMedCentral Hu P, Deng FM, Liang FX, Hu CM, Auerbach AB, Shapiro E, Wu XR, Kachar B, Sun TT (2000) Ablation of uroplakin III gene results in small urothelial plaques, urothelial leakage, and vesicoureteral reflux. J Cell Biol 151(5):961–972CrossRefPubMedPubMedCentral
72.
go back to reference Kong XT, Deng FM, Hu P, Liang FX, Zhou G, Auerbach AB, Genieser N, Nelson PK, Robbins ES, Shapiro E, Kachar B, Sun TT (2004) Roles of uroplakins in plaque formation, umbrella cell enlargement, and urinary tract diseases. J Cell Biol 167(6):1195–1204CrossRefPubMedPubMedCentral Kong XT, Deng FM, Hu P, Liang FX, Zhou G, Auerbach AB, Genieser N, Nelson PK, Robbins ES, Shapiro E, Kachar B, Sun TT (2004) Roles of uroplakins in plaque formation, umbrella cell enlargement, and urinary tract diseases. J Cell Biol 167(6):1195–1204CrossRefPubMedPubMedCentral
73.
go back to reference Oshima K, Miyazaki Y, Brock JW III, Adams MC, Ichikawa I, Pope JC IV (2001) Angiotensin type II receptor expression and ureteral budding. J Urol 166(5):1848–1852CrossRefPubMed Oshima K, Miyazaki Y, Brock JW III, Adams MC, Ichikawa I, Pope JC IV (2001) Angiotensin type II receptor expression and ureteral budding. J Urol 166(5):1848–1852CrossRefPubMed
74.
go back to reference Guron G, Friberg P (2000) An intact renin-angiotensin system is a prerequisite for normal renal development. J Hypertens 18(2):123–137CrossRefPubMed Guron G, Friberg P (2000) An intact renin-angiotensin system is a prerequisite for normal renal development. J Hypertens 18(2):123–137CrossRefPubMed
75.
go back to reference Ohtomo Y, Nagaoka R, Kaneko K, Fukuda Y, Miyano T, Yamashiro Y (2001) Angiotensin converting enzyme gene polymorphism in primary vesicoureteral reflux. Pediatr Nephrol 16(8):648–652CrossRefPubMed Ohtomo Y, Nagaoka R, Kaneko K, Fukuda Y, Miyano T, Yamashiro Y (2001) Angiotensin converting enzyme gene polymorphism in primary vesicoureteral reflux. Pediatr Nephrol 16(8):648–652CrossRefPubMed
76.
go back to reference Rigoli L, Chimenz R, di Bella C, Cavallaro E, Caruso R, Briuglia S, Fede C, Salpietro CD (2004) Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies. Pediatr Res 56(6):988–993CrossRefPubMed Rigoli L, Chimenz R, di Bella C, Cavallaro E, Caruso R, Briuglia S, Fede C, Salpietro CD (2004) Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies. Pediatr Res 56(6):988–993CrossRefPubMed
77.
go back to reference Srinivas S, Wu Z, Chen CM, D’Agati V, Costantini F (1999) Dominant effects of RET receptor misexpression and ligand-independent RET signaling on ureteric bud development. Development 126(7):1375–1386PubMed Srinivas S, Wu Z, Chen CM, D’Agati V, Costantini F (1999) Dominant effects of RET receptor misexpression and ligand-independent RET signaling on ureteric bud development. Development 126(7):1375–1386PubMed
78.
go back to reference Dressler GR, Deutsch U, Chowdhury K, Nornes HO, Gruss P (1990) Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system. Development 109(4):787–795PubMed Dressler GR, Deutsch U, Chowdhury K, Nornes HO, Gruss P (1990) Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system. Development 109(4):787–795PubMed
79.
go back to reference Favor J, Sandulache R, Neuhauser-Klaus A, Pretsch W, Chatterjee B, Senft E, Wurst W, Blanquet V, Grimes P, Sporle R, Schughart K (1996) The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney. Proc Natl Acad Sci USA 93(24):13870–13875CrossRefPubMedPubMedCentral Favor J, Sandulache R, Neuhauser-Klaus A, Pretsch W, Chatterjee B, Senft E, Wurst W, Blanquet V, Grimes P, Sporle R, Schughart K (1996) The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney. Proc Natl Acad Sci USA 93(24):13870–13875CrossRefPubMedPubMedCentral
80.
go back to reference Hains D, Sims-Lucas S, Kish K, Saha M, McHugh K, Bates CM (2008) Role of fibroblast growth factor receptor 2 in kidney mesenchyme. Pediatr Res 64(6):592–598CrossRefPubMedPubMedCentral Hains D, Sims-Lucas S, Kish K, Saha M, McHugh K, Bates CM (2008) Role of fibroblast growth factor receptor 2 in kidney mesenchyme. Pediatr Res 64(6):592–598CrossRefPubMedPubMedCentral
81.
go back to reference Seyedzadeh A, Kompani F, Esmailie E, Samadzadeh S, Farshchi B (2008) High-grade vesicoureteral reflux in Pfeiffer syndrome. Urol J 5(3):200–202PubMed Seyedzadeh A, Kompani F, Esmailie E, Samadzadeh S, Farshchi B (2008) High-grade vesicoureteral reflux in Pfeiffer syndrome. Urol J 5(3):200–202PubMed
82.
go back to reference Muensterer OJ (2002) Comprehensive ultrasound versus voiding cysturethrography in the diagnosis of vesicoureteral reflux. Eur J Pediatr 161(8):435–437CrossRefPubMed Muensterer OJ (2002) Comprehensive ultrasound versus voiding cysturethrography in the diagnosis of vesicoureteral reflux. Eur J Pediatr 161(8):435–437CrossRefPubMed
83.
go back to reference Mannen H, Tsuji S, Goto N (1991) Incomplete protection mechanism against vesico-ureteral reflux and hydronephrosis in the inbred mouse strain DDD. Lab Anim 25(2):156–161CrossRefPubMed Mannen H, Tsuji S, Goto N (1991) Incomplete protection mechanism against vesico-ureteral reflux and hydronephrosis in the inbred mouse strain DDD. Lab Anim 25(2):156–161CrossRefPubMed
84.
go back to reference Murawski IJ, Maina RW, Malo D, Guay-Woodford LM, Gros P, Fujiwara M, Morgan K, Gupta IR (2010) The C3H/HeJ inbred mouse is a model of vesico-ureteric reflux with a susceptibility locus on chromosome 12. Kidney Int 78(3):269–278CrossRefPubMed Murawski IJ, Maina RW, Malo D, Guay-Woodford LM, Gros P, Fujiwara M, Morgan K, Gupta IR (2010) The C3H/HeJ inbred mouse is a model of vesico-ureteric reflux with a susceptibility locus on chromosome 12. Kidney Int 78(3):269–278CrossRefPubMed
85.
go back to reference Mannen H, Tsuji S, Goto N (1993) Influence of chronic oestrogen treatment on severity of hydronephrosis in inbred DDD mice. Lab Anim 27(2):124–130CrossRefPubMed Mannen H, Tsuji S, Goto N (1993) Influence of chronic oestrogen treatment on severity of hydronephrosis in inbred DDD mice. Lab Anim 27(2):124–130CrossRefPubMed
86.
go back to reference Jenkins D, Bitner-Glindzicz M, Malcolm S, Allison J, de Bruyn R, Flanagan S, Thomas DF, Belk RA, Feather SA, Bingham C, Southgate J, Woolf AS (2006) Mutation analyses of Uroplakin II in children with renal tract malformations. Nephrol Dial Transplant 21(12):3415–3421CrossRefPubMed Jenkins D, Bitner-Glindzicz M, Malcolm S, Allison J, de Bruyn R, Flanagan S, Thomas DF, Belk RA, Feather SA, Bingham C, Southgate J, Woolf AS (2006) Mutation analyses of Uroplakin II in children with renal tract malformations. Nephrol Dial Transplant 21(12):3415–3421CrossRefPubMed
87.
go back to reference Jenkins D, Bitner-Glindzicz M, Malcolm S, Hu CC, Allison J, Winyard PJ, Gullett AM, Thomas DF, Belk RA, Feather SA, Sun TT, Woolf AS (2005) De novo uroplakin 111a heterozygous mutations cause renal adysplasia leading to severe kidney failure. J Am Soc Nephrol 16(7):2141–2149CrossRefPubMed Jenkins D, Bitner-Glindzicz M, Malcolm S, Hu CC, Allison J, Winyard PJ, Gullett AM, Thomas DF, Belk RA, Feather SA, Sun TT, Woolf AS (2005) De novo uroplakin 111a heterozygous mutations cause renal adysplasia leading to severe kidney failure. J Am Soc Nephrol 16(7):2141–2149CrossRefPubMed
88.
go back to reference Bard JB (2002) Growth and death in the developing mammalian kidney: signals, receptors and conversations. Bioessays 24(1):72–82CrossRefPubMed Bard JB (2002) Growth and death in the developing mammalian kidney: signals, receptors and conversations. Bioessays 24(1):72–82CrossRefPubMed
90.
go back to reference Tokuda M (1935) An eighteenth century Japanese guide-book on mouse-breeding. J Hered 26(12):481–484CrossRef Tokuda M (1935) An eighteenth century Japanese guide-book on mouse-breeding. J Hered 26(12):481–484CrossRef
91.
go back to reference Silver LM (1995) Mouse genetics: concepts and applications. Oxford University Press, New York Silver LM (1995) Mouse genetics: concepts and applications. Oxford University Press, New York
92.
go back to reference Beck JA, Lloyd S, Hafezparast M, Lennon-Pierce M, Eppig JT, Festing MF, Fisher EM (2000) Genealogies of mouse inbred strains. Nat Genet 24(1):23–25CrossRefPubMed Beck JA, Lloyd S, Hafezparast M, Lennon-Pierce M, Eppig JT, Festing MF, Fisher EM (2000) Genealogies of mouse inbred strains. Nat Genet 24(1):23–25CrossRefPubMed
93.
go back to reference Tsang S, Sun Z, Luke B, Stewart C, Lum N, Gregory M, Wu X, Subleski M, Jenkins NA, Copeland NG, Munroe DJ (2005) A comprehensive SNP-based genetic analysis of inbred mouse strains. Mamm Genome 16(7):476–480CrossRefPubMed Tsang S, Sun Z, Luke B, Stewart C, Lum N, Gregory M, Wu X, Subleski M, Jenkins NA, Copeland NG, Munroe DJ (2005) A comprehensive SNP-based genetic analysis of inbred mouse strains. Mamm Genome 16(7):476–480CrossRefPubMed
95.
go back to reference Moore KJ, Nagle DL (2000) Complex trait analysis in the mouse: the strengths, the limitations and the promise yet to come. Annu Rev Genet 34:653–686CrossRefPubMed Moore KJ, Nagle DL (2000) Complex trait analysis in the mouse: the strengths, the limitations and the promise yet to come. Annu Rev Genet 34:653–686CrossRefPubMed
96.
go back to reference Copeland NG, Jenkins NA, Gilbert DJ, Eppig JT, Maltais LJ, Miller JC, Dietrich WF, Weaver A, Lincoln SE, Steen RG, Nadeau JH, Lander ES (1993) A genetic linkage map of the mouse: current applications and future prospects. Science 262(5130):57–66CrossRefPubMed Copeland NG, Jenkins NA, Gilbert DJ, Eppig JT, Maltais LJ, Miller JC, Dietrich WF, Weaver A, Lincoln SE, Steen RG, Nadeau JH, Lander ES (1993) A genetic linkage map of the mouse: current applications and future prospects. Science 262(5130):57–66CrossRefPubMed
97.
98.
go back to reference Demant P, Hart AA (1986) Recombinant congenic strains—a new tool for analyzing genetic traits determined by more than one gene. Immunogenetics 24(6):416–422CrossRefPubMed Demant P, Hart AA (1986) Recombinant congenic strains—a new tool for analyzing genetic traits determined by more than one gene. Immunogenetics 24(6):416–422CrossRefPubMed
99.
go back to reference Nadeau JH, Singer JB, Matin A, Lander ES (2000) Analysing complex genetic traits with chromosome substitution strains. Nat Genet 24(3):221–225CrossRefPubMed Nadeau JH, Singer JB, Matin A, Lander ES (2000) Analysing complex genetic traits with chromosome substitution strains. Nat Genet 24(3):221–225CrossRefPubMed
100.
go back to reference Chesler EJ, Miller DR, Branstetter LR, Galloway LD, Jackson BL, Philip VM, Voy BH, Culiat CT, Threadgill DW, Williams RW, Churchill GA, Johnson DK, Manly KF (2008) The Collaborative Cross at Oak Ridge National Laboratory: developing a powerful resource for systems genetics. Mamm Genome 19(6):382–389CrossRefPubMedPubMedCentral Chesler EJ, Miller DR, Branstetter LR, Galloway LD, Jackson BL, Philip VM, Voy BH, Culiat CT, Threadgill DW, Williams RW, Churchill GA, Johnson DK, Manly KF (2008) The Collaborative Cross at Oak Ridge National Laboratory: developing a powerful resource for systems genetics. Mamm Genome 19(6):382–389CrossRefPubMedPubMedCentral
101.
go back to reference DiPetrillo K, Wang X, Stylianou IM, Paigen B (2005) Bioinformatics toolbox for narrowing rodent quantitative trait loci. Trends Genet 21(12):683–692CrossRefPubMed DiPetrillo K, Wang X, Stylianou IM, Paigen B (2005) Bioinformatics toolbox for narrowing rodent quantitative trait loci. Trends Genet 21(12):683–692CrossRefPubMed
102.
go back to reference Park YG, Clifford R, Buetow KH, Hunter KW (2003) Multiple cross and inbred strain haplotype mapping of complex-trait candidate genes. Genome Res 13(1):118–121CrossRefPubMedPubMedCentral Park YG, Clifford R, Buetow KH, Hunter KW (2003) Multiple cross and inbred strain haplotype mapping of complex-trait candidate genes. Genome Res 13(1):118–121CrossRefPubMedPubMedCentral
103.
go back to reference Schultheiss D, Grunewald V, Jonas U (1999) Urodynamics in the anatomical work of Leonardo da Vinci (1452–1519). World J Urol 17(3):137–143CrossRefPubMed Schultheiss D, Grunewald V, Jonas U (1999) Urodynamics in the anatomical work of Leonardo da Vinci (1452–1519). World J Urol 17(3):137–143CrossRefPubMed
104.
go back to reference Yerkes E, Nishimura H, Miyazaki Y, Tsuchida S, Brock JW 3rd, Ichikawa I (1998) Role of angiotensin in the congenital anomalies of the kidney and urinary tract in the mouse and the human. Kidney Int Suppl 67:S75–S77CrossRefPubMed Yerkes E, Nishimura H, Miyazaki Y, Tsuchida S, Brock JW 3rd, Ichikawa I (1998) Role of angiotensin in the congenital anomalies of the kidney and urinary tract in the mouse and the human. Kidney Int Suppl 67:S75–S77CrossRefPubMed
105.
106.
go back to reference Shehata R (1977) A comparative study of the urinary bladder and the intramural portion of the ureter. Acta Anat (Basel) 98(4):380–395CrossRef Shehata R (1977) A comparative study of the urinary bladder and the intramural portion of the ureter. Acta Anat (Basel) 98(4):380–395CrossRef
107.
go back to reference Gruber CM (1929) A comparative study of the intra-vesical ureters (uretero-vesical valves) in man and in experimental animals. J Urol 21(5):567–581CrossRef Gruber CM (1929) A comparative study of the intra-vesical ureters (uretero-vesical valves) in man and in experimental animals. J Urol 21(5):567–581CrossRef
108.
go back to reference Wesson MB (1920) Anatomical, embryological and physiological studies of the trigone and neck of the bladder. J Urol 4:279–315CrossRef Wesson MB (1920) Anatomical, embryological and physiological studies of the trigone and neck of the bladder. J Urol 4:279–315CrossRef
109.
go back to reference Sampson JA (1903) Ascending renal infection; with special reference to the reflux of urine from the bladder into the ureters as an etiological factor in its causation and maintenance. Johns Hopkins Hosp Bull 14:334–352 Sampson JA (1903) Ascending renal infection; with special reference to the reflux of urine from the bladder into the ureters as an etiological factor in its causation and maintenance. Johns Hopkins Hosp Bull 14:334–352
110.
go back to reference Scott JE (1975) The role of surgery in the management of vesico-ureteric reflux. Kidney Int Suppl 4:S73–S80PubMed Scott JE (1975) The role of surgery in the management of vesico-ureteric reflux. Kidney Int Suppl 4:S73–S80PubMed
111.
go back to reference Mackintosh P, Almarhoos G, Heath DA (1989) HLA linkage with familial vesicoureteral reflux and familial pelvi-ureteric junction obstruction. Tissue Antigens 34(3):185–189CrossRefPubMed Mackintosh P, Almarhoos G, Heath DA (1989) HLA linkage with familial vesicoureteral reflux and familial pelvi-ureteric junction obstruction. Tissue Antigens 34(3):185–189CrossRefPubMed
112.
go back to reference Zenteno JC, Mendez JP, Maya-Nunez G, Ulloa-Aguirre A, Kofman-Alfaro S (1999) Renal abnormalities in patients with Kallmann syndrome. BJU Int 83(4):383–386CrossRefPubMed Zenteno JC, Mendez JP, Maya-Nunez G, Ulloa-Aguirre A, Kofman-Alfaro S (1999) Renal abnormalities in patients with Kallmann syndrome. BJU Int 83(4):383–386CrossRefPubMed
113.
go back to reference Pierides AM, Athanasiou Y, Demetriou K, Koptides M, Deltas CC (2002) A family with the branchio-oto-renal syndrome: clinical and genetic correlations. Nephrol Dial Transplant 17(6):1014–1018CrossRefPubMed Pierides AM, Athanasiou Y, Demetriou K, Koptides M, Deltas CC (2002) A family with the branchio-oto-renal syndrome: clinical and genetic correlations. Nephrol Dial Transplant 17(6):1014–1018CrossRefPubMed
114.
go back to reference Ashraf S, Hoskins BE, Chaib H, Hoefele J, Pasch A, Saisawat P, Trefz F, Hacker HW, Nuernberg G, Nuernberg P, Otto EA, Hildebrandt F (2010) Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24. Nephrol Dial Transplant 25(5):1496–1501CrossRefPubMed Ashraf S, Hoskins BE, Chaib H, Hoefele J, Pasch A, Saisawat P, Trefz F, Hacker HW, Nuernberg G, Nuernberg P, Otto EA, Hildebrandt F (2010) Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24. Nephrol Dial Transplant 25(5):1496–1501CrossRefPubMed
115.
go back to reference Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T (2001) GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. J Med Genet 38(6):374–380CrossRefPubMedPubMedCentral Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T (2001) GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. J Med Genet 38(6):374–380CrossRefPubMedPubMedCentral
116.
go back to reference Weng PL, Sanna-Cherchi S, Hensle T, Glassberg E, Shapiro A, Werzberger A, Konka G, Caridi C, Izzi F, Scolari R, Ravazzolo GM, Ghiggeri AG, Gharavi AG (2008) A common gene predisposing to vesicoureteral reflux is located on chromosome 12p11-q13. American Society of Nephrology, Philadelphia Weng PL, Sanna-Cherchi S, Hensle T, Glassberg E, Shapiro A, Werzberger A, Konka G, Caridi C, Izzi F, Scolari R, Ravazzolo GM, Ghiggeri AG, Gharavi AG (2008) A common gene predisposing to vesicoureteral reflux is located on chromosome 12p11-q13. American Society of Nephrology, Philadelphia
117.
go back to reference Devriendt K, Swillen A, Fryns JP, Proesmans W, Gewillig M (1996) Renal and urological tract malformations caused by a 22q11 deletion. J Med Genet 33(4):349CrossRefPubMedPubMedCentral Devriendt K, Swillen A, Fryns JP, Proesmans W, Gewillig M (1996) Renal and urological tract malformations caused by a 22q11 deletion. J Med Genet 33(4):349CrossRefPubMedPubMedCentral
118.
go back to reference Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL (2007) NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet 3(5):e80CrossRefPubMedPubMedCentral Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL (2007) NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet 3(5):e80CrossRefPubMedPubMedCentral
Metadata
Title
Vesico-ureteric reflux: using mouse models to understand a common congenital urinary tract defect
Authors
Inga J. Murawski
Christine L. Watt
Indra R. Gupta
Publication date
01-09-2011
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Nephrology / Issue 9/2011
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-011-1821-1

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