GENETICS OF VESICOURETERAL REFLUX



如何引用文章

全文:

详细

Primary vesicoureteral reflux (VUR) is known to be the most common urological anomaly in children, witch affects 1-2% of pediatric population and 30-40% of children, developing urinary tract infections (UTIs). The hereditary and familial nature of VUR is well established and in several studies was proved that siblings of children with VUR have a higher incidence of reflux than it is in general pediatric population. Familial clustering of VUR implies that genetic factors have an important role in its pathogenesis, but to date no single major locus or gene for VUR has been identified and most researchers acknowledge that VUR is genetically heterogeneous. Improvements in genome wide scan techniques and continuously increasing knowledge of the genetic basis of VUR should lead us to further insights on VUR pathogenesis.

作者简介

D. Shakhnovskiy

National Medical Research Center of Children’s Health

编辑信件的主要联系方式.
Email: noemail@neicon.ru
俄罗斯联邦

S. Zorkin

National Medical Research Center of Children’s Health

Email: zorkin@nczd.ru
俄罗斯联邦

K. Savost’Anov

National Medical Research Center of Children’s Health

Email: noemail@neicon.ru
俄罗斯联邦

A. Pushkov

National Medical Research Center of Children’s Health

Email: noemail@neicon.ru
俄罗斯联邦

参考

  1. Cooper, C. S. Diagnosis and management of vesicoureteral reflux in children. Nat. Rev. Urol. 2009; 6: 481-9.
  2. Nagler, E. V. T., Williams, G., Hodson, E. M. & Craig, J. C. Interventions for primary vesicoureteric reflux. Cochrane Database of Systematic Reviews, Issue 6. Art. No.: CD001532. doi: 10.1002/14651858. CD001532.pub4 (2011).
  3. Mohanan, N., Colhoun, E. & Puri, P. Renal parenchymal damage in intermediate and high grade infantile vesicoureteral reflux. J. Urol. 2008; 180:1635-8.
  4. Nakai, H. et al. Clinical characteristics of primary vesicoureteral reflux in infants: multicenter retrospective study in Japan. J. Uro. 2003; 169: 309-12.
  5. Farhat, W. et al. The natural history of neonatal vesicoureteral reflux associated with antenatal hydronephrosis. J. Urol. 2000; 164: 1057-60.
  6. Marra, G. et al. Sever.e vesicoureteral reflux and chronic renal failure: a condition peculiar to male gender? Data from the ItalKid Project. J. Pediatr. 2004; 144: 677-81.
  7. Peters, C. & Rushton, H. G. Vesicoureteral reflux associated renal damage: congenital reflux nephropathy and acquired renal scarring. J. Urol. 2010; 184: 265-73.
  8. Swerkersson, S., Jodal, U., Sixt, R., Stokland, E. & Hansson, S. Relationship among vesicoureteral reflux, urinary tract infection and renal damage in children. J. Urol. 2007; 178: 647-51.
  9. Lashley, D. B., Barry, J. M., Demattos, A. M., Lande, M. B. & Mowry, J. A. Kidney transplantation in children: a single center experience. J. Urol. 1999; 161: 1920-5.
  10. Noe, H. N. The long-term results of prospective sibling reflux screening. J. Urol.199;. 148: 1739-42.
  11. Pirker, M. E., Colhoun, E. & Puri, P. Renal scarring in familial vesicoureteral reflux: is prevention possible? J. Urol. 2006;176: 1842-6).
  12. Noe, H. N., Wyatt, R. J., Peeden, J. N. Jr & Rivas, M. L. The transmission of vesicoureteral reflux from parent to child. J. Urol. 1992; 148: 1869-71).
  13. Godley, M. L. et al. The relationship between early renal status, and the resolution of vesicoureteric reflux and bladder function at 16 months. BJU Int. 2001; 87: 457-62.
  14. Chapman, C. J., Bailey, R. R., Janus, E. D., Abbott, G. D. & Lynn, K. L. Vesicoureteric reflux: segregation analysis. Am. J. Med. Genet. 1985; 20: 577-84.
  15. Eccles, M. R., Bailey, R. R., Abbott, G. D. & Sullivan, M. J. Unravelling the genetics of vesicoureteric reflux: a common familial disorder. Hum. Mol. Genet.1996; 5(1): 1425-9.
  16. Pasch, A., Hoefele, J., Grimminger, H., Hacker, H. W. & Hildebrandt, F. Multiple urinary tract malformations with likely recessive inheritance in a large Somalian kindred. Nephrol. Dial. Transplant. 2004; 19: 3172-5.
  17. Murer, L., Benetti, E. & Artifoni, L. Embryology and genetics of primary vesico-ureteric reflux and associated renal dysplasia. Pediatr. Nephrol. 2007; 22: 788-97.
  18. Murawski, I. J., Myburgh, D. B., Favor, J. & Gupta, I. R. Vesico-ureteric reflux and urinary tract development in the Pax2 1Neu+/- mouse. Am. J. Physiol. Renal Physiol. 2007; 293: F1736-F45.
  19. Schimmenti, L. A. & Eccles, M. R. Renal coloboma syndrome in Gene Reviews (eds Pagon, R. A., Bird, T. D., Dolan, C. R. & Stephens, K.) (University of Washington, Seattle, 2007).
  20. Chang, E. H. et al. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum. Mutat. 23, 582-589 (2004).
  21. Barakat, A. Y., D, Albora, J. B., Martin, M. M. & Jose, P. A. Familial nephrosis, nerve deafness, and hypoparathyroidism. J. Pediatr. 1977; 91: 61-4.
  22. Lichtner, P. et al. An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. J. Med. Genet.2000; 37: 33-7.
  23. Fukami, M. et al. GATA3 abnormalities in six patients with HDR syndrome. Endocr. J. 2011; 58: 117-21.
  24. Pallais, J. C., Au, M., Pitteloud, N., Seminara, S. & Crowley, W. F. Kallmann Syndrome. In Gene Reviews (eds Pagon, R. A., Bird, T. D., Dolan, C. R. & Stephens, K.) (University of Washington, Seattle, 2007).
  25. Duke, V., Quinton, R., Gordon, I., Bouloux, P. M. & Woolf, A. S. Proteinuria, hypertension and chronic renal failure in X-linked Kallmann, s syndrome, a defined genetic cause of solitary functioning kidney. Nephrol. Dial. Transplant. 1998; 13: 1998-2003.
  26. Innis, J. W. Hand-foot-genital syndrome. In Gene Reviews (eds Pagon, R. A., Bird, T. D., Dolan, C. R. & Stephens, K.) (Seattle, WA, 2006).
  27. Mortlock, D. P. & Innis, J. W. Mutation of HOXA13 in hand-foot-genital syndrome. Nat. Genet.1997; 15: 179-80.
  28. Kohlhase, J. Townes-Brocks syndrome. In Gene Reviews (eds Pagon, R. A., Bird, T. D., Dolan, C. R. & Stephens, K.) (University of Washington, Seattle, 2007).
  29. Daly, S. B. et al. Mutations in HPSE2 cause urofacial syndrome. Am. J. Hum. Genet. 2010; 86: 963-9.
  30. Pang, J. et al. Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome. Am. J. Hum. Genet.2010; 86: 957-62.
  31. Deardorff, M. A., Clark, D. M. & Krantz, I. D. Cornelia de Lange syndrome. In Gene Reviews (eds Pagon, R. A., Bird, T. D., Dolan, C. R. & Stephens, K.) (University of Washington, Seattle, 2005).
  32. Hains, D. S. et al. High incidence of vesicoureteral reflux in mice with Fgfr2 deletion in kidney mesenchyma. J. Urol. 2010; 183: 2077-84.
  33. Savoia, A. & Balduini, C. L. MYH9-related disorders. In Gene Reviews (eds Pagon, R. A., Bird, T. D., Dolan, C. R. & Stephens, K.) (University of Washington, Seattle, 2008).
  34. Kolon, T. F., Gray, C. L., Sutherland, R. W., Roth, D. R. & Gonzales, E. T. Jr. Upper urinary tract manifestations of the VACTERL association. J. Urol. 2000; 163: 1949-51.
  35. Felix, J. F., Tibboel, D. & de Klein, A. Chromosomal anomalies in the etiology of oesophageal atresia and tracheo-oesophageal fistula. Eur. J. Med. Genet. 2007; 50: 163-75.
  36. Scott, D. A. Esophageal atresia/ tracheoesophageal fistula overview. In Gene Reviews (eds Pagon, R. A., Bird, T. D., Dolan, C. R. & Stephens, K.) (University of Washington, Seattle, 2009).
  37. Stankiewicz, P. et al. Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am. J. Hum. Genet.2009; 84: 780-91.
  38. Cordell, H. J. et al. Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux. J. Am. Soc. Nephrol. 2010; 21: 113-23.
  39. Choi, K. L., McNoe, L. A., French, M. C., Guilford, P. J. & Eccles, M. R. Absence of PAX2 gene mutations in patients with primary familial vesicoureteric reflux. J. Med. Genet. (1998; 35: 338-39).
  40. Gimelli, S. et al. Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. Hum. Mutat.2010; 31: 1352-9.
  41. Lee-Chen, G. J. et al. Significance of the tissue kallikrein promoter and transforming growth factor-beta1 polymorphisms with renal progression in children with vesicoureteral reflux. Kidney Int. 2004; 65: 1467-72.
  42. Hohenfellner, K. et al. ACE I/D gene polymorphism predicts renal damage in congenital uropathies. Pediatr. Nephrol. 1999; 13: 514-8.
  43. Park, H. W. et al. Association of angiotensin I converting enzyme gene polymorphism with reflux nephropathy in children. Nephron. 2000; 86: 52-5.
  44. Yoneda, A., Cascio, S., Green, A., Barton, D. & Puri, P. Angiotensin II type 2 receptor gene is not responsible for familial vesicoureteral reflux. J. Urol. 2002; 168: 1138-41.
  45. Jenkins, D. et al. De novo uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. J. Am. Soc. Nephrol. 2005; 16: 2141-49.
  46. Schonfelder, E. M. et al. Mutations in uroplakin IIIA are a rare cause of renal hypodysplasia in humans. Am. J. Kidney Dis. 2006; 47: 1004-12.
  47. Giltay, J. C., van de Meerakker, J., van Amstel, H. K. & de Jong, T. P. No pathogenic mutations in the uroplakin III gene of 25 patients with primary vesicoureteral reflux. J. Urol. 2004; 171: 931-2.
  48. Jiang, S. et al. Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity. Kidney Int. 2004; 66: 10-9.
  49. Briggs, C. E. et al. A genome scan in affected sib-pairs with familial vesicoureteral reflux identifies a locus on chromosome 5. Eur. J. Hum. Genet. 2001; 18: 245-50.
  50. Casas, K. A. et al. Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals. Am. J. Med. Genet. A 2004; 130A: 331-9.
  51. G.C. Congenital anomalies of the kidney and urinary tract (CAKUT): a current review of cell signaling processes in ureteral development. J. Pediatr. Urol. 2006; 2: 2-9.
  52. Nothnagel, M., Ellinghaus, D., Schreiber, S., Krawczak, M. & Franke, A. A comprehensive evaluation of SNP genotype imputation. Hum. Genet. 2009; 125: 163-71.
  53. Perry, J. R. et al. Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach. Diabetes. 2009; 58: 1463-7.
  54. Subramanian, A., Kuehn, H., Gould, J., Tamayo, P. & Mesirov, J. P. GSEA-P: a desktop application for gene set enrichment analysis. Bioinformatics. 2007; 2: 3251-3.
  55. Subramanian, A. et al. Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc. Natl Acad. Sci. USA 2005; 102: 15545-50.
  56. Wang, K., Li, M. & Bucan, M. Pathway-based approaches for analysis of genomewide association studies. Am. J. Hum. Genet. 2007; 81: 1278-83.

补充文件

附件文件
动作
1. JATS XML
下载

版权所有 © , 2018

##common.cookie##