Vesicoureteral reflux

Journal of the American Society of Nephrology

Volumn 19, Issue 5, 2008, Pages 847-862

  Williams, Gabrielle ^a,b   Fletcher, Jeffery T ^b   Alexander, Stephen I ^b   Craig, Jonathan C ^a,b  

^a UNIVERSITY OF SYDNEY   (Australia)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ANGIOTENSIN 2 RECEPTOR; ANTIBIOTIC AGENT; BLOOD CLOTTING FACTOR 13A; GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR; HLA ANTIGEN; PROTEIN TYROSINE KINASE; TRANSCRIPTION FACTOR GLI3; TRANSCRIPTION FACTOR PAX2;

ANTIBIOTIC PROPHYLAXIS; ANTIBIOTIC THERAPY; CHROMOSOME 10; CHROMOSOME 13; CHROMOSOME 8; CHROMOSOME POSITIONING; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DIAGNOSTIC APPROACH ROUTE; DIAGNOSTIC IMAGING; DIAGNOSTIC TEST; DISEASE CLASSIFICATION; FAMILIAL DISEASE; FOLLOW UP; GENETIC ASSOCIATION; GENOME ANALYSIS; GENOTYPE; HERITABILITY; HUMAN; LINKAGE ANALYSIS; MICTURITION CYSTOURETHROGRAPHY; NONHUMAN; PRADER WILLI SYNDROME; PRIORITY JOURNAL; REVIEW; SMITH MAGENIS SYNDROME; THERAPY EFFECT; TREATMENT RESPONSE; URINARY TRACT INFECTION; VESICOURETERAL REFLUX; ARTICLE; INFANT; PREDICTION AND FORECASTING; PROGNOSIS; RANDOMIZED CONTROLLED TRIAL; RISK FACTOR;

HUMANS; INFANT; PREDICTIVE VALUE OF TESTS; PROGNOSIS; RANDOMIZED CONTROLLED TRIALS AS TOPIC; RISK FACTORS; URINARY TRACT INFECTIONS; VESICO-URETERAL REFLUX;

EID: 44049091430     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2007020245     Document Type: Review

References (190)

1. Stephens F, Lenaghan D: Anatomical basis and dynamics of vesicoureteric reflux. J Urol 87: 669-680, 1962
2. Tanagho EA, Guthrie TH, Lyon RP: The intravesical ureter in primary reflux. J Urol 101: 824-832, 1969
3. Vermillion CD, Heale WF: Position and configuration of the ureteral orifice and its relationship to renal scarring in adults. J Urol 109: 579-584, 1973
4. Baker DK, Gomez RA: Embryonic development of the ureter and bladder: Acquisition of smooth muscle. J Urol 160: 545-550, 1998
5. Shafik A: Ureterovesical junction inhibitory reflex and vesicoureteral junction excitory reflex: Description of two reflexes and their role in the uretic antireflux mechanism. Urol Res 24: 339-343, 1996
6. Capitanucci ML, Silveri M, Mosiello G, Zaccara A, Capozza N, de Gennaro M: Prevalence of hypercontractility in male and female infants with vesico-ureteral reflux. Eur J Pediatr Surg 10: 172-176, 2000
7. Sillen U: Bladder dysfunction in children with vesico-ureteric reflux. Acta Paediatr Suppl 88: 40-47, 1999
8. Lebowitz RL, Olbing H, Parkkulainen KV, Smellie JM, Tamminen-Mobius TE: International system of radiographic grading of vesicoureteric reflux. International Reflux Study in Children. Pediatr Radiol 15: 105-109, 1985
9. Craig JC, Irwig LM, Christie J, Lam A, Onikul E, Knight JF, Sureshkumar P, Roy LP: Variation in the diagnosis of vesicoureteric reflux using micturating cystourethrography. Pediatr Nephrol 11: 455-459, 1997
10. Eccles MR, Jacobs GH: The genetics of primary vesico-ureteric reflux. Ann Acad Med Singapore 29: 337-345, 2000
11. Mak RH, Kuo HJ: Primary ureteral reflux: Emerging insights from molecular and genetic studies. Curr Opin Pediatr 15: 181-185, 2003
12. Lama G, Russo M, De Rosa E, Mansi L, Piscitelli A, Luongo I, Esposito Salsano M: Primary vesicoureteric reflux and renal damage in the first year of life. Pediatr Nephrol 15: 205-210, 2000
13. McIlroy PJ, Abbott GD, Anderson NG, Turner JG, Mogridge N, Wells JE: Outcome of primary vesicoureteric reflux detected following fetal renal pelvic dilatation. J Paediatr Child Health 36: 569-573, 2000
14. Aksu N, Yavascan O, Kangin M, Kara OD, Aydin Y, Erdogan H, Tuncel TC, Cetinkaya E, Ozbay E, Sandickcioglu TG: Postnatal management of infants with antenatally detected hydronephrosis. Pediatr Nephrol 20: 1253-1259, 2005
15. Brophy MM, Austin PF, Yan Y, Coplen DE, Herndon A, Rushton HG: Vesicoureteral reflux and clinical outcomes in infants with prenatally detected hydronephrosis. J Urol 168: 1716-1719, 2002
16. Gloor JM, Ramsey PS, Ogburn PL Jr, Danilenko-Dixon DR, DiMarco CS, Ramin KD: The association of isolated mild fetal hydronephrosis with postnatal vesicoureteral reflux. J Matern Fetal Neonatal Med 12: 196-200, 2002
17. Hiraoka M, Hori C, Tsukahara H, Kasuga K, Ishihara Y, Kotsuji F, Mayumi M: Vesicoureteral reflux in male and female neonates as detected by voiding ultrasonography. Kidney Int 55: 1486-1490, 1999
18. Scott JE, Lee RE, Hunter EW, Coulthard MG, Matthews JN: Ultrasound screening of newborn urinary tract. Lancet 338: 1571-1573, 1991
19. Tsai JD, Huang FY, Tsai TC: Asymptomatic vesicoureteral reflux detected by neonatal ultrasonographic screening. Pediatr Nephrol 12: 206-209, 1998
20. Chand DH, Rhoades T, Poe SA, Kraus S, Strife CF: Incidence and severity of vesicoureteral reflux in children related to age, gender, race and diagnosis. J Urol 170: 1548-1550, 2003
21. Cleper R, Krause I, Eisenstein B, Davidovits M: Prevalence of vesicoureteral reflux in neonatal urinary tract infection. Clin Pediatr (Phila) 43: 619-625, 2004
22. Craig JC: Urinary tract infection in children: Investigation and management. Mod MedApril: 16-29, 1998
23. Siegel SR, Siegel B, Sokoloff BZ, Kanter MH: Urinary infection in infants and pre-school children. Five-year follow-up. Am J Dis Child 134: 369-372, 1980
24. Kanellopoulos T, Salakos C, Spiliopoulou I, Ellina A, Nikolakopoulou NM, Papanastasiou DA: First urinary tract infection in neonates, infants and young children: A comparative study. Pediatr Nephrol 21: 1131-1137, 2006
25. Hellstrom A, Hanson E, Hansson S, Hjalmas K, Jodal U: Association between urinary symptoms at 7 years old and previous urinary tract infection [see comment]. Arch Intern Med 66: 232-234, 1991
26. Hollowell JG, Greenfield SP: Screening siblings for cesicoureteral reflux. J Urol 168: 2138-2141, 2002
27. Scott JE, Swallow V, Coulthard MG, Lambert HJ, Lee RE: Screening of newborn babies for familial ureteric reflux. Lancet 350: 396-400, 1997
28. Agarwal SK, Khoury AE, Abramson RP, Churchill BM, Argiropoulos G, McLorie GA: Outcome analysis of vesicoureteral reflux in children with myelodysplasia. J Urol 157: 980-982, 1997
29. Hassan JM, Pope JC, Brock JW 3rd, Adams MC: Vesicoureteral reflux in patients with posterior urethral valves. J Urol 170: 1677-1680; discussion 1680, 2003
30. Kass EJ, Koff SA: The management of vesicoureteral reflux in children with neurogenic bladders. Z Kinderchir 34: 379-383, 1981
31. Puri P, Kumar R: Endoscopic correction of vesicoureteral reflux secondary to posterior urethral valves. J Urol 156: 680-682, 1996
32. Upadhyay J, Bolduc S, Braga L, Farhat W, Bagli DJ, McLorie GA, Khoury AE, El Ghoneimi A: Impact of prenatal diagnosis on the morbidity associated with ureterocele management. J Urol 167: 2560-2565, 2002
33. Ahmed S: Vesico-ureteric reflux in Down's syndrome: poor prognosis. Aust N Z J Surg 60: 113-116, 1990
34. Chou IC, Tsai FJ, Yu MT, Tsai CH: Smith-Magenis syndrome with bilateral vesicoureteral reflux: A case report. J Formos Med Assoc 101: 726-728, 2002
35. Grisaru S, Ramage IJ, Rosenblum ND: Vesicoureteric reflux associated with renal dysplasia in the Wolf-Hirschhom syndrome. Pediatr Nephrol 14: 146-148, 2000
36. Yildizdas D, Antmen B, Bayram I, Yapicioglu H: Klippel-Trenaunay-Weber syndrome with hydronephrosis and vesicoureteral reflux: An unusual association. Turkish J Pediatr 44: 180-182, 2002
37. Ichikawa I, Kuwayama F, Pope JC, Stephens FD, Miyazaki Y: Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT. Kidney Int 61: 889-898, 2002
38. Miyazaki Y, Ichikawa I: Ontogeny of congenital anomalies of the kidney and urinary tract, CAKUT. Pediatr Int 45: 598-604, 2003
39. Godley ML, Desai D, Yeung CK, Dhillon HK, Duffy PG, Ransley PG: The relationship between early renal status, and the resolution of vesico-ureteric reflux and bladder function at 16 months. BJU Int 87: 457-462, 2001
40. Smellie JM, Prescod NP, Shaw PJ, Risdon RA, Bryant TN: Childhood reflux and urinary infection: A follow-up of 10-41 years in 226 adults. Pediatr Nephrol 12: 727-736, 1998
41. Goonasekera CD, Shah V, Wade AM, Barratt TM, Dillon MJ: 15-year follow-up of renin and blood pressure in reflux nephropathy. Lancet 347: 640-643, 1996
42. Gordon I, Barkovics M, Pindoria S, Cole TJ, Woolf AS: Primary vesicoureteric reflux as a predictor of renal damage in children hospitalized with urinary tract infection: A systematic review and meta-analysis. J Am Soc Nephrol 14: 739-744, 2003
43. Batourina E, Tsai S, Lambert S, Sprenkle P, Viana R, Dutta S, Hensle T, Wang F, Niederreither K, McMahon AP, Carroll TJ, Mendelsohn CL: Apoptosis induced by vitamin A signaling is crucial for connecting the ureters to the bladder. Nat Genet 37: 1082-1089, 2005
44. Piscione TD, Rosenblum ND: The molecular control of renal branching morphogenesis: Current knowledge and emerging insights. Differentiation 70: 227-246, 2002
45. Beck AD: The effect of intra-uterine urinary obstruction upon the development of the fetal kidney. J Urol 105: 784-789, 1971
46. Peters CA, Carr MC, Lais A, Retik AB, Mandell J: The response of the fetal kidney to obstruction. J Urol 148: 503-509, 1992
47. Tarantal AF, Han VK, Cochrum KC, Mok A, da Silva M, Matsell DG: Fetal rhesus monkey model of obstructive renal dysplasia. Kidney Int 59: 446-456, 2001
48. Mackie G, Stephens F: Duplex kidneys: A correlation of renal dysplasia with position of the ureteral orifice. J Urol 114: 274-280, 1975
49. Kume T, Deng K, Hogan BL: Murine fork-head/winged helix genes Foxc1 (Mf1) and Foxc2 (Mfh1) are required for the early organogenesis of the kidney and urinary tract. Development 127: 1387-1395, 2000
50. Oshima K, Miyazaki Y, Brock JI, Adams M, Ichikawa I, Pope JI: Angiotensin type II receptor expression and ureteral budding. J Urol 166: 1848-1852, 2001
51. Batourina E, Choi C, Paragas N, Bello N, Hensle T, Costantini FD, Schuchardt A, Bacallao RL, Mendelsohn CL: Distal ureter morphogenesis depends on epithelial cell remodeling mediated by vitamin A and Ret. Nat Genet 32: 109-115, 2002
52. Metzger R, Schuster T, Hill H, Stehr M, Franke FE, Dietz HG: Cajal-like cells in the human upper urinary tract. J Urol 172: 769-772, 2004
53. Solari V, Piotrowska AP, Cascio S, Unemoto K, Chertin B, Puri P: Cyclooxygenase-2 upregulation in reflux nephropathy. J Urol 170: 1624-1627, 2003
54. Rolle U, Piotrowska AP, Nemeth L, Puri P: Altered distribution of interstitial cells of Cajal in Hirschsprung disease. Arch Path Lab Med 126: 928-933, 2002
55. Sanders KM: A case for interstitial cells of Cajal as pacemakers and mediators of neurotransmission in the gastrointestinal tract. Gastroenterology 111: 492-515, 1996
56. Schwentner C, Oswald J, Lunacek A, Fritsch H, Deibl M, Bartsch G, Radmayr C: Loss of interstitial cells of Cajal and gap junction protein connexin 43 at the vesicoureteral junction in children with vesicoureteral reflux. J Urol 174: 1981-1986, 2005
57. 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: De novo uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. J Am Soc Nephrol 16: 2141-2149, 2005
58. Kelly H, Ennis S, Yoneda A, Bermingham C, Shields DC, Molony C, Green AJ, Puri P, Barton DE: Uroplakin III is not a major candidate gene for primary vesicoureteral reflux. Eur J Hum Genet 13: 500-502, 2005
59. Kaefer M, Curran M, Treves ST, Bauer S, Hendren WH, Peters CA, Atala A, Diamond D, Retik A: Sibling vesicoureteral reflux in multiple gestation births. Pediatrics 105: 800-804, 2000
60. Hampel N, Levin DR, Gersh I: Bilateral vesico-ureteral reflux with pyelonephritis in identical twins. Br J Urol 47: 535-537, 1975
61. Noe HN, Wyatt RJ, Peeden JN Jr, Rivas ML: The transmission of vesicoureteral reflux from parent to child. J Urol 148: 1869-1871, 1992
62. Fried K, Yuval E, Eidelman A, Beer S: Familial primary vesicoureteral reflux. Clin Genet 7: 144-147, 1975
63. Connolly LP, Treves ST, Connolly SA, Zurakowski D, Share JC, Bar-Sever Z, Mitchell KD, Bauer SB: Vesicoureteral reflux in children: Incidence and severity in siblings. J Urol 157: 2287-2290, 1997
64. Wan J, Greenfield SP, Ng M, Zerin M, Ritchey ML, Bloom D: Sibling reflux: A dual center retrospective study. J Urol 156: 677-679, 1996
65. Noe HN: The long-term results of prospective sibling reflux screening. J Urol 148: 1739-1742, 1992
66. Devriendt K, Groenen P, Van Esch H, van Dijck M, Van de Ven W, Fryns JP, Proesmans W: Vesico-ureteral reflux: A genetic condition? Eur J Pediatr 157: 265-271, 1998
67. Chapman CJ, Bailey RR, Janus ED, Abbott GD, Lynn KL: Vesicoureteric reflux: Segregation analysis. Am J Med Genet 20: 577-584, 1985
68. Malaga S, Santos F, Nuno F, Fernandez Toral J, Matesanz JL, Crespo M: Familial vesicoureteral reflux [Spanish]. An Esp Pediatr 12: 493-500, 1979
69. Lewy PR, Belman AB: Familial occurrence of nonobstructive, noninfectious vesicoureteral reflux with renal scarring. J Pediatr 86: 851-856, 1975
70. Frye RN, Patel HR, Parsons V: Familial renal tract abnormalities and cortical scarring. Nephron 12: 188-196, 1974
71. Middleton GW, Howards SS, Gillenwater JY: Sex-linked familial reflux. J Urol 114: 36-39, 1975
72. Tobenkin MI: Hereditary vesicoureteric reflux. South Med J 57: 139-147, 1964
73. 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: Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1. Am J Hum Genet 66: 1420-1425, 2000
74. Burger RH: Familial and hereditary vesicouretral reflux. JAMA 216: 680-681, 1971
75. De Vargas A, Evans K, Ransley P, Rosenderg AR, Rothwell D, Sherwood T, Williams DI, Barratt TM, Carter CO: A family study of vesicoureteric reflux. J Med Genet 15: 85-96, 1978
76. Davies, JA. The Kidney Development Database. Available online at http://golgi.ana.ed.ac.uk/kidhome.html. Accessed 29 July 2007
77. Salanti G, Sanderson S, Higgins JP: Obstacles and opportunities in meta-analysis of genetic association studies. Genet Med 7: 13-20, 2005
78. Bogardus ST Jr, Concato J, Feinstein AR. Clinical epidemiological quality in molecular genetic research: The need for methodological standards. JAMA 281: 1919-1926, 1999
79. Little J. Reporting and review of human genome epidemiology studies (Chapter 10). In: Human Genome Epidemiology: A Scientific Foundation for Using Gene Information to Improve Health and Prevent Disease, edited by Khuory M, New York, Oxford University Press, 2004
80. Wilson J, Jungner G: Principles and Practice of Screening for Disease. Geneva, World Health Organisation, 1968
81. Hollowell JG, Greenfield SP: Screening siblings for vesicoureteral reflux. J Urol 168: 2138-2140, 2002
82. American Academy of Pediatrics. Committee on Quality Improvement. Subcommittee on Urinary Tract Infection. Practice parameter: The diagnosis, treatment, and evaluation of the initial urinary tract infection in febrile infants and young children. Pediatrics 103: 843-852, 1999
83. Craig JC, Irwig LM, Knight JF, Roy LP: Does treatment of vesicoureteric reflux in childhood prevent end-stage renal disease attributable to reflux nephropathy? Pediatrics 105: 1236-1241, 2000
84. Fenton S, Desmeules M, Copleston P, Arbus G, Froment D, Jeffery J, Kjellstrand C: Renal replacement therapy in Canada: A report from the Canadian Organ Replacement Register. Am J Kidney Dis 25: 134-150, 1995
85. Broyer M, Chantler C, Donckerwolcke R, Ehrich JH, Rizzoni G, Scharer K: The paediatric registry of the European Dialysis and Transplant Association: 20 years' experience. Pediatr Nephrol 7: 758-768, 1993
86. Gusmano R, Perfumo F: Worldwide demographic aspects of chronic renal failure in children. Kidney Intl Suppl 41: S31-S35, 1993
87. II. Incidence and prevalence of ESRD. Am J Kidney Dis 34[Suppl 1]: S40-S50, 1999
88. NAPRTCS Annual Report 2006. Available online at https://web.emmes.com/ study/ ped/annlrept/annlrept.html. Accessed 29 July 2007
89. Bailey RR, Rolleston GL: Vesicoureteric reflux and reflux nephropathy: the Christchurch contribution. N Z Med J 110: 266-269, 1997
90. Bailey RR, Lynn KL, Robson RA: End-stage reflux nephropathy. Ren Fail 16: 27-35, 1994
91. Bailey RR: Vesico-ureteric reflux and reflux nephropathy. Kidney Int Suppl 42: 580-585, 1993
92. Craig JC, Irwig LM, Howman-Giles RB, Uren RF, Bernard EJ, Knight JF, Sureshkumar P, Roy LP: Variability in the interpretation of dimercaptosuccinic acid scintigraphy after urinary tract infection in children. J Nucl Med 39: 1428-1432, 1998
93. Moorthy I, Easty M, McHugh K, Ridout D, Biassoni L, Gordon I: The presence of vesicoureteric reflux does not identify a population at risk for renal scarring following a first urinary tract infection. Arch Intern Med 90: 733-736, 2005
94. Garin EH, Olavarria F, Garcia Nieto V, Valenciano B, Campos A, Young L: Clinical significance of primary vesicoureteralreflux and urinary antibiotic prophylaxis after acute pyelonephritis: A multicenter, ran-domized, controlled study. Pediatrics 117: 626-632, 2006
95. Reddy PP, Evans MT, Hughes PA, Dangman B, Cooper J, Lepow ML, Calvano CJ, Mandell J: Antimicrobial prophylaxis in children with vesico-ureteral reflux: A randomized prospective study of continuous therapy vs intermittent therapy vs surveillance: Abstract 56 [Abstract]. Pediatrics 100[Suppl]: 555-556, 1997
96. Jodal U, Smellie JM, Lax H, Hoyer PF: Ten-year results of randomised treatment of children with severe vesicoureteral reflux. Final report of the International Reflux Study in Children. Pediatr Nephrol 21: 785-792, 2006
97. Elder JS, Diaz M, Caldamone AA, Cendron M, Greenfield SP, Hurwitz R, Kirsch A, Koyle MA, Pope JC, Shapiro E: Endoscopic therapy for vesicoureteral reflux: A meta-analysis. I. Reflux resolution and urinary tract infection. J Urol 175: 716-722, 2006
98. Wheeler D, Vimalachandra D, Hodson EM, Roy LP, Smith G, Craig JC: Antibiotics and surgery for vesicoureteric reflux: A meta-analysis of randomised controlled trials. Arch Intern Med 88: 688-694, 2003
99. Jones KE: Time to review the value of imaging after urinary tract infection in infants. Arch Intern Med 90: 663-664, 2005
100. Hoberman A, Charron M, Hickey RW, Baskin M, Kearney DH, Wald ER: Imaging studies after a first febrile urinary tract infection in young children. N Engl J Med 348: 195-202, 2003
101. Diagnosing urinary tract infection (UTI) in the under fives. Eff Health Care 8: 1-11, 2004
102. Blumenthal I: Vesicoureteric reflux in children: Where next? Lancet 365: 570-571, 2006
103. Kretschmer HL: Cystography, its value in bladder surgery. Surg Gynecol Obstet 23: 709-717, 1916
104. Gibson RN: Ureteral reflux in the normal child. J Urol 62: 40-43, 1949
105. Campbell M: Clinical Pediatric Urology. Philadelphia and London, Saunders, 1951
106. Bunge RG: Further observations with delayed cystograms. J Urol 71: 427-434, 1954
107. Iannaccone G, Panzironi PE: Ureteral reflux in normal infants. Acta Radiologia 44: 451-456, 1955
108. Kjellberg SR, Ericsson NO, Rudhe U: The Lower Urinary Tract in Childhood. Chicago, The Yearbook Publishers Inc., 1957
109. Jones BW, Heastream JW: Vesicoureteral reflux in children. J Urol 80: 114-115, 1958
110. Forsythe WI, Whelan RF: The occurrence and significance of vesico-ureteral reflux in children. Br J Urol 30: 189-197, 1958
111. Politano VA, Durham NC: Vesicoureteral reflux in children. JAMA 172: 116-120, I960
112. Lich RJ, Howerton LWJ, Goode LS, Davis LA: The ureterovesical junction of the newborn. J Urol 92: 436-438, 1964
113. Kollermann MW, Ludwig H: Regarding vesico-ureteral reflux in normal infants and children. Z Kinderheilkd 100: 185-191, 1967
114. Peters PC, Johnson DE, Hackson JH Jr: The incidence of vesicoureteral reflux in the premature child. J Urol 97: 259-260, 1967
115. Booth EJ, Bell TE, Mclain C, Evans AT: Fetal vesicoureteral reflux. J Urol 113: 258-260, 1975
116. Abbott GD, Taylor B, Maling T: Incidence of vesicoureteric reflux in infants with sterile urine. Br J Urol 53: 73, 1981
117. Miyamoto N, Yoshida M, Kuratani S, Matsuo I, Aizawa S: Defects of urogenital development in mice lacking Emx2. Development 124: 1653-1664, 1997
118. Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Levi-Acobas F, Cruaud C, Le Merrer M, Mathieu M, Konig R, Vigneron J, Weissenbach J, Petit C, Weil D: Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet 6: 2247-2255, 1997
119. Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C: A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet 15: 157-164, 1997
120. Shimada K, Matsumoto F, Tohda A, Ueda M: Histological study of fetal kidney with urethral obstruction and cesicoureteral reflux: A consideration of the etiology of congenital reflux nephropathy. Int J Urol 10: 518-524, 2003
121. Labastie MC, Catala M, Gregoire JM, Peault B: The GATA-3 gene is expressed during human kidney embryogenesis. Kidney Int 47: 1597-1603, 1995
122. Patterson LT, Pembaur M, Potter SS: Hoxa11 and Hoxd11 regulate branching morphogenesis of the ureteric bud in the developing kidney. Development 128: 2153-2161, 2001
123. Shawlot W, Behringer RR: Requirement for Lim1 in head-organizer function. Nature 374: 425-430, 1995
124. Torres M, Gomez-Pardo E, Dressier GR, Gruss P: Pax-2 controls multiple steps of urogenital development. Development 121: 4057-4065, 1995
125. Grieshammer U, Le Ma, Plump AS, Wang F, Tessier-Lavigne M, Martin GR: SLIT2-mediated ROBO2 signaling restricts kidney induction to a single site. Dev Cell 6: 709-717, 2004
126. Nishinakamura R, Matsumoto Y, Nakao K, Nakamura K, Sato A, Copeland NG, Gilbert DJ, Jenkins NA, Scully S, Lacey DL, Katsuki M, Asashima M, Yokota T: Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development. Development 128: 3105-3115, 2001
127. Kreidberg JA, Sariola H, Loring JM, Maeda M, Pelletier J, Housman D, Jaenisch R: WT-1 is required for early kidney development. Cell 74: 679-691, 2005
128. Lazzaro D, De Simone V, De Magistris L, Lehtonen E, Cortese R: LBl1 and LFB3 homeoproteins are sequentially expressed during kidney development. Development 114: 469-479, 1992
129. Dunn NR, Winnier GE, Hargett LK, Schrick JJ, Fogo AB, Hogan BLM: Haploinsufficient phenotypes in Bmp4 heterozygous null mice and modification by mutations in Gli3 and Alx4. Dev Biol 188: 235-247, 1997
130. Dudley AT, Lyons KM, Robertson EJ: A requirement for bone morphogenetic protein-7 during development of the mammalian kidney and eye. Gene Dev 9: 2795-2807, 1995
131. Ohuchi H, Hori Y, Yamasaki M, Harada H, Sekine K, Kato S, Itoh N: FGF10 acts as a major ligand for FGF receptor 2 IIIb in mouse multi-organ development. Biochem Biophys Res Commun 277: 643-649, 2000
132. Celli G, LaRochelle WJ, Mackem S, Sharp R, Merlino G: Soluble dominant-negative receptor uncovers essential roles for fibroblast growth factors in multi-organ induction and patterning. EMBO J 17: 1642-1655, 1998
133. Esquela AF, Lee SJ: Regulation of metanephric kidney development by growth/ differentiation factor 11. Dev Biol 257: 356-370, 2003
134. Moore MW, Klein RD, Farinas I, Sauer H, Armanini M, Phillips H, Reichardt LF, Ryan AM, Carver-Moore K, Rosenthal A: Renal and neuronal abnormalities in mice lacking GDNF. Nature 382: 76-79, 1996
135. Jing SQ, Wen DZ, Yu YB, Holst PL, Luo Y, Fang M, Tamir R, Antonio L, Hu Z, Cupples R, Louis J-C, Hu S, Altrock BW, Fox GM: GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNF-alpha, a novel receptor for GDNF. Cell 85: 1113-1124, 1996
136. Pachnis V, Mankoo B, Costantini F: Expression of the c-ret proto-oncogene during mouse embryogenesis. Development 119: 1005-1017, 1993
137. Yu OH, Murawski IJ, Myburgh DB Gupta IR: Overexpression of RET leads to vesicoureteric reflux in mice. Am J Physiol Renal Physiol 287: F1123-F1130, 2004
138. Oh SP, Li E: The signaling pathway mediated by the type IIB activin receptor controls axial patterning and lateral asymmetry in the mouse. Genes Dev 11: 1812-1826, 1997
139. Nishimura H, Yerkes E, Hohenfellner K, Miyazaki Y, Ma J, Hunley TE, Yoshida H, Ichiki T, Threadgill D, Phillips JA 3rd, Hogan BM, Fogo A, Brock JW 3rd, Inagami T, Ichikawa I: 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: 1-10, 1999
140. Dinchuk JE, Car BD, Focht RJ, Johnston JJ, Jaffee BD, Covington MB, Contel NR, Eng VM, Collins RJ, Czerniak PM: Renal abnormalities and an altered inflammatory response in mice lacking cyclooxygenase II. Nature 378: 406-409, 1995
141. Cano-Gauci DF, Song HH, Yang H, McKerlie C, Choo B, Shi W, Pullano R, Piscione TD, Grisaru S, Soon S, Sedlackova L, Tanswell AK, Mak TW, Yeger H, Lockwood GA, Rosenblum ND, Filmus J: Glypican-3-deficient mice exhibit developmental overgrowth and some of the abnormalities typical of Simpson-Golabi-Behmel syndrome. J Cell Biol 146: 255-264, 1999
142. Bullock SL, Fletcher JM, Beddington RS, Wilson VA: Renal agenesis in mice homozygous for a gene trap mutation in the gene encoding heparan sulfate 2-sulfotransferase. Genes Dev 12: 1894-1906, 1998
143. Muller U, Wang D, Denda S, Meneses JJ, Pedersen RA, Reichardt LF: Integrin alpha8beta1 is critically important for epithelial-mesenchymal interactions during kidney morphogenesis. Cell 88: 603-613, 1997
144. Fischer EA, Verpnt M-C, Garrett-Sinha LA, Ronco PM, Rossert JA: Klf6 is a zinc finger protein expressed in a cell specific manner during kidney development. J Am Soc Nephrol 12: 726-735, 2001
145. Mendelsohn C, Lohnes D, Decimo D, Lufkin T, LeMeur M, Chambon P, Mark M: Function of the retinoic acid receptors (RARs) during development (II). Multiple abnormalities at various stages of organogenesis in RAR double mutants. Development 120: 2749-2771, 1994
146. Mendelsohn C, Batourina E, Fung S, Gilbert T, Dodd J: Stromal cells mediate retinoid-dependent functions essential for renal development. Development 126: 1139-1148, 1999
147. Kong XT, Deng FM, Hu P, Liang FX, Zhou G, Auerbach AB, Genieser N, Nelson PK, Robbins ES, Shapiro E, Kachar B, Sun TT: Roles of uroplakins in plaque formation, umbrella cell enlargement, and urinary tract diseases. J Cell Biol 167: 1195-1204, 2004
148. Hu P, Deng FM, Liang FX, Hu CM, Auerbach AB, Shapiro E, Wu XR, Kachar B, Sun TT: Ablation of uroplakin III gene results in small urothelial plaques, urothelial leakage, and vesicoureteral reflux. J Cell Biol 151: 961-972, 2000
149. Klemme L, Fish AJ, Rich S, Greenberg B, Senske B, Segall M: Familial ureteral abnormalities syndrome: Genomic mapping, clinical findings. Pediatr Nephrol 12: 349-356, 1998
150. Stoll C, De Saint MA, Donato L, Alembik K, Sauvage P, Messer J: Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism [see comment]. Genet Couns 12: 231-235, 2001; erratum appears in Genet Couns 13: 69, 2002
151. Schofield B, Babu A, Punales-Morejon D, Popescu S, Leiter E, Franklin B, Penchaszadeh VB: Double mosaic aneuploidy: 45, X/47, XY, +8 in a male infant. Am J Med Genet 44: 7-10, 1992
152. Geller E, Wolfson BJ, Rabinovitch H: Multiple pelvoureteric diverticulosis in a 1-month-old infant with a del(10p) chromosomal abnormality presenting with UTI and VUR. Pediatr Radiol 30: 398-399, 2000
153. Hon E, Chapman C, Gunn TR: Family with partial monosomy 10p and trisomy 10p. Am J Med Genet 56: 136-140, 1995
154. Ogata T, Muroya K, Sasagawa I, Kosho T, Wakui K, Sakazume S, Ito K, Matsuo N, Ohashi H, Nagai T: Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. Kidney Int 58: 2281-2290, 2000
155. Shefelbine SE, Khorana S, Schultz PN, Huang E, Thobe N, Hu ZJ, Fox GM, Jing S, Cote GJ, Gagel RF: Mutational analysis of the GDNF/RET-GDNFR alpha signaling complex in a kindred with vesicoureteral reflux. Hum Genet 102: 474-478, 1998
156. Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR: Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 9: 358-364, 1995; erratum appears in Nat Genet 13: 129, 1996
157. Cunliffe HE, McNoe LA, Ward TA, Devriendt K, Brunner HG, Eccles MR: The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. J Med Genet 35: 806-812, 1998
158. Fletcher J, Hu M, Berman Y, Collins F, Grigg J, McIver M, Juppner H, Alexander S: Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2. J Am Soc Nephrol 16: 2754-2761, 2005
159. Vats KR, Ishwad C, Singla I, Vats A, Ferrell R, Ellis D, Moritz M, Surti U, Jayakar P, Frederick DR, Vats AN A locus for renal malformations including vesico-ureteric reflux on chromosome 13q33-34. J Am Soc Nephrol 17: 1158-1167, 2006
160. Kokura K, Shima H, Mori Y, Ikoma F, Sakamoto H, Furuyama J: Prader-Willi syndrome associated with chromosomal aberration: report of a case [Japanese]. Hinyokika Kiyo 38: 1079-1082, 1992
161. Rigoli L, Chimenz R, di Bella C, Cavallaro E, Caruso R, Briuglia S, Fede C, Salpietro CD: Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies. Pediatr Res 56: 988-993, 2004
162. Wu HY, Rusnack SL, Bellah RD, Plachter N, McDonald-McGinn DM, Zackai EH, Canning DA: Genitourinary malformations in chromosome 22q11.2 deletion. J Urol 168: 2564-2565, 2002
163. 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: Familial vesicoureteral reflux: Testing replication of linkage in seven new multigenerational kindreds. J Am Soc Nephrol 16: 1781-1787, 2005
164. 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: Disruption of ROBO2 is associated with urinary tract anomolies and confers risk of vesicoureteral reflux. Am J Hum Genet 80: 616-632, 2007
165. Kawauchi A, Takahara S, Sada M, Goto R, Nakatani T, Miki T: Susceptibility to vesicoureteral reflux in Japanese is linked to HLA-DR antigen. Urology 58: 1036-1040, 2001
166. Sengar DPS, Rashid A, Wolfish NM: Familial urinary tract anomalies: Association with the major histocompatibility complex in man. J Urol 121: 194-197, 1979
167. Sengar DPS, McLeish WA, Rashid A, Wolfish NM: Histocompatibility antigens in urinary tract infection and vesicoureteral reflux: A preliminary communication. Clin Nephrol 10: 166-169, 1978
168. Yoneda A, Oue T, Puri P: Angiotensin-converting enzyme genotype distribution in familial vesicoureteral reflux. Pediatr Surg Int 17: 308-311, 2001
169. Park HW, Koo JW, Kim JS, Ha IS, Cheong HI, Choi Y: Association of angiotensin I converting enzyme gene polymorphism with reflux nephropathy in children. Nephron 86: 52-55, 2000
170. Yoneda A, Cascio S, Oue T, Chertin B, Puri P: Risk factors for the development of renal parenchymal damage in familial vesicoureteral reflux. J Urol 168: 1704-1707, 2002
171. Haszon I, Friedman AL, Papp F, Bereczki C, Baji S, Bodrogi T, Karoly E, Endreffy E, Turi S: ACE gene polymorphism and renal scarring in primary vesicoureteric reflux. Pediatr Nephrol 17: 1027-1031, 2002
172. Yim HE, Jung MJ, Choi BM, Bae IS, Yoo KH, Hong YS, Lee JW, Kim SK: Genetic polymorphism of the renin-angiotensin system on the development of primary vesicoureteral reflux. Am J Nephrol 24: 178-187, 2004
173. Pardo R, Malaga S, Coto E, Navarro M, Alvarez V, Espinosa L, Alvarez R, Vallo A, Loris C, Braga S: Renin-angiotensin system polymorphisms and renal scarring. Pediatr Nephrol 18: 110-114, 2003
174. Ohtomo Y, Nagaoka R, Kaneko K, Fukuda Y, Miyano T, Yamashiro Y: Angiotensin converting enzyme gene polymorphism in primary vesicoureteral reflux. Pediatr Nephrol 16: 648-652, 2001
175. Jiang S, Gitlin J, Deng FM, Liang FX, Lee A, Atala A, Bauer SB, Ehrlich GD, Feather SA, Goldberg JD, Goodship JA, Goodship TH, Hermanns M, Hu FZ, Jones KE, Malcolm S, Mendelsohn C, Preston RA, Retik AB, Schneck FX, Wright V, Ye XY, Woolf AS, Wu XR, Ostrer H, Shapiro E, Yu J, Sun TT: Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity. Kidney Int 66: 10-19, 2004
176. Zagradisnik B, Bracic K, Varda NM, Kokalj Vokac N, Gregoric A: G-protein beta3 sub-unit gene C825T polymorphism in patients with vesico-ureteric reflux. Ann Genet 47: 209-216, 2004
177. Hohenfellner K, Hunley TE, Brezinska R, Brodhag P, Shyr Y, Brenner W, Habermehl P, Kon V: ACE I/D gene polymorphism predicts renal damage in congenital uropathies. Pediatr Nephrol 13: 514-518, 1999
178. Hohenfellner K, Hunley TE, Yerkes E, Habermehl P, Hohenfellner R, Kon V: Angiotensin II, type 2 receptor in the development of vesico-ureteric reflux. BJU Int 83: 318-322, 1999
179. Andreu N, Escarceller M, Feather S, Devriendt K, Wolf AS, Estivill X, Sumoy L: PALML, a novel paralemmin-related gene mapping on human chromosome 1p21. Gene 278: 33-40, 2001
180. Giltay JC, van de MJ, van Amstel HK, de Jong TP: No pathogenic mutations in the uroplakin III gene of 25 patients with primary vesicoureteral reflux. J Urol 171: 931-932, 2004
181. Choi KL, McNoe LA, French MC, Guilford PJ, Eccles MR: Absence of PAX2 gene mutations in patients with primary familial vesicoureteric reflux. J Med Genet 35: 338-339, 1998
182. Torres VE, Moore SB, Kurtz SB, Offord KP, Kelalis PP: In search of marker for genetic susceptibility to reflux nephropathy. Clin Nephrol 14: 217-222, 1980
183. Lee-Chen GJ, Liu KP, Lai YC, Juang HS, Huang SY, Lin CY: Significance of the tissue kallikrein promoter and transforming growth factor-beta1 polymorphisms with renal progression in children with vesicoureteral reflux. Kidney Int 65: 1467-1472, 2004
184. Liu KP, Lin CY, Chen HJ, Wei CF, Lee-Chen GJ: Renin-angiotensin system polymorphisms in Taiwanese primary vesicoureteral reflux. Pediatr Nephrol 19: 594-601, 2004
185. Ozen S, Alikasifoglu M, Saatci U, Bakkaloglu A, Besbas N, Kara N, Kocak H, Erbas B, Unsal I, Tuncbilek E: Implications of certain genetic polymorphisms in scarring in vesicoureteric reflux: Importance of ACE polymorphism. Am J Kidney Dis 34: 140-145, 1999
186. Chertin B, Solari V, Reen DJ, Farkas A, Puri P: Up-regulation of angiotensin-converting enzyme (ACE) gene expression induces tubulointerstitial injury in reflux nephropathy. Pediatr Surg Int 18: 635-639, 2002
187. Solari V, Ennis S, Cascio S, Puri P: Tumor necrosis factor-alpha gene polymorphism in reflux nephropathy. J Urol 172: 1604-1606, 2004
188. Solari V, Owen D, Puri P: Association of transforming growth factor-b1 gene polymorphism with reflux nephropathy. J Urol 174: 1609-1611, 2005
189. Chertin B, Farkas A, Puri P: Insulin-like growth factor-1 expression in reflux nephropathy. Pediatr Surg Int 20: 283-289, 2004
190. Chertin B, Farkas A, Puri P: Epidermal growth factor and monocyte chemotactic peptide-1 expression in reflux nephropathy. Eur Urol 44: 144-149, 2003 Special Article