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Konjenital Böbrek Anomalileri

Year 2013, , 141 - 146, 01.10.2013

Zeynep Nagehan Yürük Yıldırım

https://doi.org/10.5222/j.child.2013.141

Abstract

Konjenital organ malformasyonları arasında en sık görü- len anomali böbrek ve üreterin konjenital anomalileridir. Üriner sistem enfeksiyonu, hipertansiyon ve böbrek yeter- sizliğine yol açması nedeni ile önemli morbiditeye sahip hastalıklardır. Çocuklarda son dönem böbrek yetersizliği nedenlerinin %30-50’sini oluşturur. Genetik olarak hetero- jen hastalıklardır, fakat tek gen hastalıkları veya kromozom bozuklukları da anomaliye yol açabilir. Bu anomaliler alt ya da üst üriner sistem anomalileri olarak görülebilir. Bu yazıda böbreğin üst üriner sistem konjenital malformas- yonları değerlendirilmiştir

Keywords

Konjenital böbrek çocuk anomali renal

References

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  • 2. Wiesel A, Queisser-Luft A, Clementi M, Bianca S, Stoll C, EUROSCAN Study Group. Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: an analysis of 709.030 births in 12 European countries. Eur J Med Genet 2005;48:131-44. http://dx.doi.org/10.1016/j.ejmg.2005.02.003
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  • 6. Neild GH. Primary renal disease in young adults with renal failure. Nephrol Dial Transplant 2010;25:1025-32. http://dx.doi.org/10.1093/ndt/gfp653
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  • 30. Coffinier C, Thepot D, Babinet C, Yaniv M, Barra J. Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differantiation. Development 1999;126:4785-94.
  • 31. Lindner TH, Njolstad PR, Horikawa Y, et al. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudoPOU domain of hepatocyte nuclear factor-1beta. Hum Mol Genet 1999;8:2001-8. http://dx.doi.org/10.1093/hmg/8.11.2001
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Congenital Malformations of Kidney

Year 2013, , 141 - 146, 01.10.2013

Zeynep Nagehan Yürük Yıldırım

https://doi.org/10.5222/j.child.2013.141

Abstract

The most common congenital organ anomalies in human beings are congenital anomalies of the kidney and the uri- nary tract CAKUT , which as a whole is an important cause of morbidity due to such complications as urinary tract infections, hypertension, and renal failure. Up to 30-50% of the end- stage renal disease is due to CAKUT. CAKUT is a group of genetically heterogeneous, but single gene disor- ders or chromosomal abnormalities which can lead to these anomalies. These anomalies can involve both the lower and/ or upper urinary tract. Congenital malformations of the kidney upper urinary tract were evaluated in this paper

Keywords

Congenital kidney renal malformation child

References

  • 1. Queisser-Luft A, Stolz G, Wiesel A, Schlaefer K, Spranger J. Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990-1998). Arch Gynecol Obstet 2002;266:163-7. http://dx.doi.org/10.1007/s00404-001-0265-4
  • 2. Wiesel A, Queisser-Luft A, Clementi M, Bianca S, Stoll C, EUROSCAN Study Group. Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: an analysis of 709.030 births in 12 European countries. Eur J Med Genet 2005;48:131-44. http://dx.doi.org/10.1016/j.ejmg.2005.02.003
  • 3. Sanyanusin P, McNoe LA, Sullivan MJ, Weaver RG, Eccles MR. Mutation of PAX2 in two siblings with renalcoloboma syndrome. Hum Mol Genet 1995;4:2183-4. http://dx.doi.org/10.1093/hmg/4.11.2183
  • 4. Edghill EL, Bingham C, Ellard S, Hattersley AT. Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J Med Genet 2006;43:84-90. http://dx.doi.org/10.1136/jmg.2005.032854
  • 5. Song R, Yosypiv IV. Genetics of congenital anomalies of the kidney and urinary tract. Pediatr Nephrol 2011;26:353-64. http://dx.doi.org/10.1007/s00467-010-1629-4
  • 6. Neild GH. Primary renal disease in young adults with renal failure. Nephrol Dial Transplant 2010;25:1025-32. http://dx.doi.org/10.1093/ndt/gfp653
  • 7. Toka HR, Toka O, Hariri A, Nguyen HT. Congenital anomalies of kidney and urinary tract. Semin Nephrol 2010;30: 374-86. http://dx.doi.org/10.1016/j.semnephrol.2010.06.004
  • 8. Seikaly MG, Ho PL, Emmett L, Fine RN, Tejani A. Chronic renal insufficiency in children: the 2001 Annual Report of the NAPRTCS. Pediatr Nephrol 2003;18:796-804. http://dx.doi.org/10.1007/s00467-003-1158-5
  • 9. North American Pediatric Renal Trials and Collaborative Studies (2008) NAPRTCS Annual report. Available at https:// web.emmes.com/study/ped/annlrept/Annual%20Report%20 -2008.pdf
  • 10. Piscione TD, Rosenblum N. The malformed kidney: disruption of glomerular and tubular development. Clin Genet 1999;56:343-58. http://dx.doi.org/10.1034/j.1399-0004.1999.560502.x
  • 11. Reidy KJ, Rosenblum ND. Cell and molecular biology of kidney development. Semin Nephrol 2009;29:321-37. http://dx.doi.org/10.1016/j.semnephrol.2009.03.009
  • 12. Rosenblum ND, Salomon R. Disorders of Kidney Formation in Geary DF, Schaefer F eds. Comprehensive Pediatric Nephrology. 1st ed. Philadelphia, PA, USA: Mosby Elsevier. 2008: 131-41.
  • 13. Paul Doodyer. Renal Dysplasia/Hypoplasia in Avner ED, Harmon WE, Niaudet P, Yoshikawa N eds. Pediatric Nephrology. 6th ed. Berlin Heidelberg: Springer-Verlag. 2009:107-20
  • 14. Fraser FC, Ling D, Clogg D, Nogrady B. Genetic aspects of the BOR syndrome-branchial fistulas, ear pits, hearing loss and renal anomalies. Am J Med Genet 1978;2:241-52. http://dx.doi.org/10.1002/ajmg.1320020305
  • 15. Chen A, Francis M, Ni L et al. Phenotypic manifestations of branchio-oto-renal syndrome. Am J Med Genet 1995;58:365- 70. http://dx.doi.org/10.1002/ajmg.1320580413
  • 16. Fraser FC, Sproule JR, Halal F. Frequency of the branchiooto-renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet 1980;7:341-9. http://dx.doi.org/10.1002/ajmg.1320070316
  • 17. Chang EH, Menezes M, Meyer NC et al. Branchio-oto-renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat 2004;23:582-9. http://dx.doi.org/10.1002/humu.20048
  • 18. Abdelhak S, Kalatzis V, Heilig R et al. A human homologue of the Drosophila eyes absent gene underlies branchio-otorenal (BOR) syndrome and identifies a novel gene family. Nat Genet 1997;15:157-64. http://dx.doi.org/10.1038/ng0297-157
  • 19. Orten DJ, Fischer SM, Sorensen JL et al. Branchio-otorenal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat 2008;29:537-44. http://dx.doi.org/10.1002/humu.20691
  • 20. Krug P, Moriniere V, Marlin S et al. Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls in to question the pathogenic role of SIX5 mutations. Hum Mutat 2011;32:183- 90. http://dx.doi.org/10.1002/humu.21402
  • 21. Xu P-X, Adams J, Peters H, et al. Eya1 deficient mice lack ears and kidneys and show abnormal apoptosis of organ primorclia. Nat Genet 1999;23:113. http://dx.doi.org/10.1038/12722
  • 22. Smith RJH. Branchio oto renal spectrum disorders. In: Pagon RA, Adam MP, Bird TD et al. (eds). Gene Reviews™ (Internet). University of Washington, Seattle, WA, (Accessed Mar 19, 1999. Updated 2013 Jun 20; at http://www.ncbi.nlm. nih.gov/books/NBK1380/).
  • 23. Weaver RG, Cashwell LF, Lorentz W et al. Optic nerve coloboma associated with renal disease. Am J Med Genet 1988;29:597-605. http://dx.doi.org/10.1002/ajmg.1320290318
  • 24. Lisa A Schimmenti. Renal coloboma syndrome. European J Hum Genet 2011;19:1207-12. http://dx.doi.org/10.1038/ejhg.2011.102
  • 25. Salomon R, Tellier AL, Attie-Bitach T, et al. PAX2 mutations in oligomeganephronia. Kidney Int 2001;59:457-62. http://dx.doi.org/10.1046/j.1523-1755.2001.059002457.x
  • 26. Ford B, Rupps R, Lirenman D, et al. Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family. Am J Med Genet 2001;99:137-41. http://dx.doi.org/10.1002/1096-8628(2000)9999:9993.0.CO;2-F
  • 27. Gribouval O, Gonzales M, Neuhaus T, et al. Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Nat Genet 2005; 37:964-8. http://dx.doi.org/10.1038/ng1623
  • 28. Allanson JE, Hunter AG, Mettler GS, Jimenez C. Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: review. Am J Med Genet 1992;43:811-4. http://dx.doi.org/10.1002/ajmg.1320430512
  • 29. Kumar D, Moss G, Primhak R, Coombs R. Congenital renal tubular dysplasia and skull ossification defects similar to teratogenic effects of angiotensin converting enzyme inhibitors. J Med Genet 1997;34:541-55. http://dx.doi.org/10.1136/jmg.34.7.54
  • 30. Coffinier C, Thepot D, Babinet C, Yaniv M, Barra J. Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differantiation. Development 1999;126:4785-94.
  • 31. Lindner TH, Njolstad PR, Horikawa Y, et al. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudoPOU domain of hepatocyte nuclear factor-1beta. Hum Mol Genet 1999;8:2001-8. http://dx.doi.org/10.1093/hmg/8.11.2001
  • 32. Ulinski T, Lescure S, Beaufils S, et al. Renal phenotypes related to hepatocyte nuclear factor-1 beta (TCF2) mutations in pediatric cohort. J Am Soc Nephrol 2006;17:497-503. http://dx.doi.org/10.1681/ASN.2005101040
  • 33. Townes PL, Brocks ER. Hereditary syndrome of imperforate anus with hand, foot and ear anormalies. J Pediatr 1972;81: 321-6. http://dx.doi.org/10.1016/S0022-3476(72)80302-0
  • 34. Kohlhase J. SALL1 mutations in Townes-Brocks syndrome and related disorders. Hum Mutat 2000;16:460-6. http://dx.doi.org/10.1002/1098-1004(200012)16:63.0.CO;2-4
  • 35. Schuchardt A, D’Agati V, Pachnis V, et al. Renal agenesis and hypodysplasia in ret-k- mutant mice result from defects in ureteric bud development. Development 1996;122:1919-29.
  • 36. Kreidberg JA, Sariola H, Loring JM, et al. WT-1 is required for early kidney development. Cell 1993;74:679-91. http://dx.doi.org/10.1016/0092-8674(93)90515-R
  • 37. Brophy PD, Ostrom L, Lang KM, et al. Regulation of ureteric bud owergrowth by Pax2- dependent activation of the glial derived neutrophilic factor gene. Development 2001; 128:4747.
  • 38. 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 2000;127:1387-95.
  • 39. McPherson E. Renal anomalies in families of individuals with congenital solitary kidney. Genet Med 2007;9:298-302. http://dx.doi.org/10.1097/GIM.0b013e3180544516
  • 40. Gloor JM, Ogburn PL Jr, Breckle RJ, Morgenstern BZ, Milliner DS. Urinary tract anomalies detected by prenatal ultrasound examination at Mayo Clinic Rochester. Mayo Clin Proc 1995;70:526-31. http://dx.doi.org/10.4065/70.6.526
  • 41. Klaassen I, Neuhaus TJ, Mueller-Wiefel DE, et al. Antenatal oligohydramnios of renal origin: long-term outcome. Nephrol Dial Transplant 2007;22:432-9. http://dx.doi.org/10.1093/ndt/gfl591
  • 42. Carey WA, Talley LI, Sehring SA, et al. Outcomes of dialysis initiated during the neonatal period for treatment of endstage renal disease: a North American Pediatric Renal Trials and Collaborative Studies special analysis. Pediatrics 2007; 119:468-73. http://dx.doi.org/10.1542/peds.2006-1754
  • 43. Doroshow LW, Abeshouse BS. Congenital unilateral solitary kidney: report of 37 cases and a review of the literature. Urol Surv 1961;11:219-29.
  • 44. Parikh CR, McCall D, Engelman C, et al. Congenital renal agenesis case-control analysis of birth characteristics. Am J Kidney Dis 2002;39:689-94. http://dx.doi.org/10.1053/ajkd.2002.31982
  • 45. Schreuder MF1, Langemeijer ME, Bökenkamp A, et al. Hypertension and microalbuminuria in children with congenital solitary kidneys. J Paediatr Child Health 2008;44(6): 363-8. http://dx.doi.org/10.1111/j.1440-1754.2008.01315.x
  • 46. Rai AS, Taylor TK, Smith GH, et al. Congenital abnormalities of the urogenital tract in association with congenital vertebral malformations. J Bone Joint Surg Br 2002;84:891-5. http://dx.doi.org/10.1302/0301-620X.84B6.11814
  • 47. Li S, Qayyum A, Coakley FV, et al. Association of renal agenesis: and mullerian duct anomalies. J Comput Assist Tomogr 2000;24:829-34. http://dx.doi.org/10.1097/00004728-200011000-00001
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There are 59 citations in total.

Details

Primary Language Turkish
Journal Section Research Articles
Authors

Zeynep Nagehan Yürük Yıldırım This is me

Publication Date October 1, 2013
Published in Issue Year 2013

Cite

APA Yürük Yıldırım, Z. N. (2013). Konjenital Böbrek Anomalileri. Çocuk Dergisi, 13(4), 141-146. https://doi.org/10.5222/j.child.2013.141
AMA Yürük Yıldırım ZN. Konjenital Böbrek Anomalileri. Çocuk Dergisi. October 2013;13(4):141-146. doi:10.5222/j.child.2013.141
Chicago Yürük Yıldırım, Zeynep Nagehan. “Konjenital Böbrek Anomalileri”. Çocuk Dergisi 13, no. 4 (October 2013): 141-46. https://doi.org/10.5222/j.child.2013.141.
EndNote Yürük Yıldırım ZN (October 1, 2013) Konjenital Böbrek Anomalileri. Çocuk Dergisi 13 4 141–146.
IEEE Z. N. Yürük Yıldırım, “Konjenital Böbrek Anomalileri”, Çocuk Dergisi, vol. 13, no. 4, pp. 141–146, 2013, doi: 10.5222/j.child.2013.141.
ISNAD Yürük Yıldırım, Zeynep Nagehan. “Konjenital Böbrek Anomalileri”. Çocuk Dergisi 13/4 (October 2013), 141-146. https://doi.org/10.5222/j.child.2013.141.
JAMA Yürük Yıldırım ZN. Konjenital Böbrek Anomalileri. Çocuk Dergisi. 2013;13:141–146.
MLA Yürük Yıldırım, Zeynep Nagehan. “Konjenital Böbrek Anomalileri”. Çocuk Dergisi, vol. 13, no. 4, 2013, pp. 141-6, doi:10.5222/j.child.2013.141.
Vancouver Yürük Yıldırım ZN. Konjenital Böbrek Anomalileri. Çocuk Dergisi. 2013;13(4):141-6.