Konjenital Böbrek Anomalileri

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

Anahtar Kelimeler:

Konjenital, böbrek, çocuk, anomali, renal

Congenital Malformations of Kidney

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,

PDF

___

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
48. Keller G, Zimmer G, Mall G, et al. Nephron number in patients with primary hypertension. N Engl J Med 2003; 348: 101-8. http://dx.doi.org/10.1056/NEJMoa020549
49. Haecker FM, Wehrmann M, Hacker HW, et al. Renal dysplasia in children with posterior urethral valves: a primary or secondary malformation? Pediatr Surg Int 2002;18:119–22. http://dx.doi.org/10.1007/s003830100656
50. Matsell DG, Mok A, Tarantal AF. Altered primate glomerular development due to in utero urinary tract obstruction. Kidney Int 2002;61:1263-9. http://dx.doi.org/10.1046/j.1523-1755.2002.00274.x
51. James CA, Watson AR, Twining P, et al. Antenatally detected urinary tract abnormalities: changing incidence and management. Eur J Pediatr 1998;157:508-11. http://dx.doi.org/10.1007/s004310050865
52. D’Alton M, Romero R, Grannum P, et al. Antenatal diagnosis of renal anomalies with ultrasound. IV. Bilateral multicystic kidney disease. Am J Obstet Gynecol 1986;154:532-7. http://dx.doi.org/10.1016/0002-9378(86)90597-1
53. Kuwertz-Broeking E, Brinkmann OA, Vonlengerke HJ, et al. Unilateral multicystic displastic kidney experience in children. BJU Int 2004;93:388-92. http://dx.doi.org/10.1111/j.1464-410X.2003.04623.x
54. Rudnik-Schoneborn S, John U, Deget F, et al. Clinical fea- tures of unilateral multicystic renal dysplasia in children. Eur J Pediatr 1998;157:666-72. http://dx.doi.org/10.1007/s004310050908
55. Hawass ND, Kolawole TM, el Badawi MG, et al. Intrathoracic kidneys: report of 6 cas ses and a review of the literature. Eur Urol 1988;14:83-7.
56. Guarino N, Tadini B, Camardi P, Silvestro L, Lace R, Bianchi M. The incidence of associated urological abnormalities in children with renal ectopia. J Urol 2004;172:1757-9. http://dx.doi.org/10.1097/01.ju.0000138376.93343.74
57. Natsis K, Piagkou M, Skotsimara A, Protogerou V, Tsitouridis I, Skandalaki P. Horseshoe kidney: a review of anatomy and pathology. Surg Radiol Anat 2014;36:517-26. http://dx.doi.org/10.1007/s00276-013-1229-7
58. Solanki S, Bhatnagar V, Gupta AK, Kumar R. Crossed fused renal ectopia: Challenges in diagnosis and management. J Indian Assoc Pediatr Surg 2013;18:7-10. http://dx.doi.org/10.4103/0971-9261.107006
59. Glodny B, Petersen J, Hofmann KJ, et al. Kidney fusion anomalies revisited: clinical and radiological analysis of 209 cases of crossed fused ectopia and horseshoe kidney. BJU Int 2009;103:224-35. http://dx.doi.org/10.1111/j.1464-410X.2008.07912.x

ISSN: 1302-9940
Yayın Aralığı: Yılda 4 Sayı
Başlangıç: 2000
Yayıncı: İstanbul Üniversitesi

Arşiv