20Mar 2017

CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT NEOPLASMS AND IN THE ELDERLY.

  • Research scholarship University of Catania Italy Dpt Sciences Medical of surgery and technologies advanted.
  • Professor full University of Catania, Medical School Italy Dpt Sciences Medical of surgery and technologies advanted .Adress via S Sofia 86 cap 95125 Catania Italy.
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Introduction: Congenital abnormalities of the kidneys and urinary tract represented a spectrum of malformations often grouped under the acronym for CAKUT. Normal development of the kidneys and urinary tract is the result of the precise interaction, spatially and temporally coordinated, between two structures, the metanephric mesenchyme (which originates from the nephrogenic cord) and the ureteric bud (which originates from nefrico duct or Wolff). Any alteration, it's genetic, environmental, or stochastic, which influence this process can result in kidney malformations and streets urinariedel present study is to evaluate in relation to clinical attention the incidence of risk in neoplastic 'association cancer and malformation. in adults Materials end Methods: Male patient of 75 suffering from gross hematuria and hernia inquinale sn accompanied by dysuria symptoms, in heavy smoker instrumental ultrasound examination of the urinary tract showed a solid lesion in the posterolateral wall sn aggittante in the bladder lumen The uro-CT examination showed a " abnormality of the urinary tract development with ectopia crusade and merger of the two kidneys located alongside sn (fot, 3.4) of the renal pelvis are addressed before the district complete with double ureteral sn .In at the urethral meatus will highlight a focal thickening protruding into the lumen wall to finely irregular margins, with enhancement after contrast medium. (photo 5.6) the CT examination conducted in the chest (photo 7) confirmed the marked signs of emphysema, the anterior segment of the left upper lobe, in close relationship with bronchus and vessels segmented solid training in margins lobed (29x20 mm axial diameter approximately). At PET-CT accumulation of the tracer in the upper field of the left lung in the paramedian attributable to non-specific reactive process .Fig (8.9), then he performed genetic test that confirmed mutations in the PAX2 Results: The UroCT is the imaging examination with greater sensitivity and specificity. The limit lies in the poor ability to detect flat lesions non-invasive muscle. The urography has been almost entirely supplanted by UroTC. The current biomarkers do not have a sensitivity and specificity greater than urinary cytology, and The aromatic amines, NAT2 and NAT1 of tobacco smoking products, are considered the main cause of the vescica.la flexible cystoscopy cancer (Narrow Band Imaging) is being promoted as first-invasive test to be practiced in the patient suspected of having a bladder tumor. Uro-RM, similarly to what happens with the urography and CT, it is possible the study of the urinary tract, in order to seek sincrone. l'associazione urothelial lesions and tumors in malformations has prompted our research towards an evaluation genetics through genetic testing the result of which was the presence of a mutation in the PAX2, Discussion: Renal abnormalities, according to the classification of Ridson, are divided into: number of anomalies, seat of anomalies, anomalies of form, abnormalities of differentiation, The presence of a double district pyelo-ureter. Observed in the patient was incomplete, with the two ureters who join before leading into the bladder through a common orifice, Figure 3 also the duplicity era asymptomatic, and was accompanied by a fusion anomaly: a horseshoe kidney. It was also present malrotation renaleuna genetic evaluation by performing genetic tests given to the search for possible correlation between cancer and malformation with oncological risk assessment identifies a heterogeneous set of tests designed to identify changes in the DNA sequences of the germline or of the products that are derived directly from the modification of transmissible genomic sequences .. the geographical correlation allows altresi to compare health risk levels allows you to answer the question whether there is a relationship between risk of death or birth defects as evidenced by numerous studies there is a risk increased cancer and malformations in the presence of high socioeconomic deprivation With increasing environmental pressure has been a steady trend in the health risk Conclusions: Genetic testing can predict with great accuracy the future development of the health of a single individual in the presence of defects is necessary to provide genetic testing for the purpose of assessing the health of the individual. You can assume the major socio-ethical-legal implications for presymptomatic testing, the only genetic tests that can predict with certainty and in the future occurrence of a disease tests for clinical purposes provide information on the health status of subject. Those carried out for research purposes usually generate information that is not indicative of health status or genetic risks of the subject, but it is useful for the purposes of statistical or scientific researc:


  1. Ferlay, F. Bray, P. Pisani and D.M. Parkin. GLOBOCAN 2002: Cancer Incidence, Mortality and Prevalence Worldwide IARC CancerBase No. 5. version 2.0, IARC Press, Lyon, 2004.
  2. Ferlay J, Randi G, Bosetti C, Levi F, Negri E, Boyle P, La Vecchia C. Declining mortality from bladder cancer in Europe. BJU Int. 2008;101(1):11-9.
  3. AIRT Working Group. I Tumori in Italia ? Rapporto 2006. Incidenza, mortalit? e stime. Epidemiologia & Prevenzione. Anno 30 (1) gennaio-febbraio 2006 (supplemento n.2).
  4. Zeegers MPA, Tan FE, Dorant E, van Den Brandt PA. The impact of characteristics of cigarette smoking on urinary tract cancer risk: a meta-analysis of epidemiologic studies. Cancer. 2000;89(3):630-9.67
  5. Samanic C, Kogevinas M,et al . Smoking and bladder cancer in Spain: effects of tobacco type, timing, environmental tobacco smoke, and gender. Cancer Epidemiol Biomarkers Prev. 2006;15(7):1348-54.
  6. Castelao JE, Yuan JM, Skipper PL, Tannenbaum SR, Gago-Dominguez M, Crowder JS, Ross RK, Yu MC. Gender- and smoking-related bladder cancer risk.J Natl Cancer? 2001;93(7):538-45.
  7. Chiu BC, Lynch CF, Cerhan JR, Cantor KP. Cigarette smoking and risk of bladder, pancreas, kidney, and colorectal cancers in Iowa. Ann Epidemiol. 2001;11(1):28-37.
  8. Batty GD, Kivimaki M, Gray L, Smith GD, Marmot MG, Shipley MJ. Cigarette smoking and site-specific cancer mortality: testing uncertain associations using extended? follow-up of the original Whitehall study. Ann Oncol. 2008;19(5):996-1002.
  9. Alberg AJ, Kouzis A, Genkinger JM, Gallicchio L, Burke AE, Hoffman SC, Diener-West M, Helzlsouer KJ, Comstock GW. A prospective cohort study of bladder cancer risk in? relation to active cigarette smoking and household exposure to secondhand cigarette? Am J Epidemiol. 2007;165(6):660-6.
  10. Bjerregaard BK, Raaschou-Nielsen O, Riboli et al Tobacco smoke and bladder cancer--in the European Prospective Investigation? into Cancer and Nutrition. Int J Cancer. 2006;119(10):2412-6.
  11. Doll R, Peto R, Boreham J, Sutherland I. Mortality from cancer in relation to smoking: 50 years observations on British doctors. Br J Cancer. 2005;92(3):426-9.
  12. Zeegers MPA, Goldbohm RA, van den Brandt PA. A prospective study on active and environmental tobacco smoking and bladder cancer risk (The Netherlands). Cancer Causes Control. 2002;13(1):83-90.
  13. Tripathi A, Folsom AR, Anderson KE; Iowa Women?s Health Study. Risk factors for urinary bladder carcinoma in postmenopausal women. The Iowa Women?s Health Study. Cancer. 2002;95(11):2316-23.
  14. Puente D, Hartge P, Greiser E, Cantor KP, King WD, Gonz?lez CA, Cordier S, Vineis P, Lynge E, Chang-Claude J, Porru S, Tzonou A, J?ckel KH, Serra C, Hours M, Lynch CF, Ranft U, Wahrendorf J, Silverman D, Fernandez F, Boffetta P, Kogevinas M. A pooled analysis of bladder cancer case-control studies evaluating smoking in men and Cancer Causes Control. 2006;17(1):71-9.
  15. Pitard A, Brennan P, Clavel J, Greiser E, Lopez-Abente G, Chang-Claude J, Wahrendorf J, Serra C, Kogevinas M, Boffetta P. Cigar, pipe, and cigarette smoking and bladder cancer risk in European men. Cancer Causes Control. 2001;12(6):551-6.
  16. Brennan P, Bogillot O, Cordier S, Greiser E, Schill W, Vineis P, Lopez-Abente G, Tzonou A, Chang-Claude J, Bolm-Audorff U, J?ckel KH, Donato F, Serra C, Wahrendorf J, Hours M, T?Mannetje A, Kogevinas M, Boffetta P. Cigarette smoking and bladder cancer in men: a pooled analysis of 11 case-control studies. Int J Cancer. 2000;86(2):289-94.
  17. IARC Working Group on the Evaluation of Carcinogenic Risks to Humans. Tobacco smoke and involuntary smoking. IARC Monogr Eval Carcinog Risks Hum, Vol. 83. 2004.
  18. Burch JD, Rohan TE, Howe GR, Risch HA, Hill GB, Steele R, Miller AB. Risk of bladder cancer by source and type of tobacco exposure: a case-control study. Int J Cancer. 1989;44(4):622-8.
  19. Sandler DP, Everson RB, Wilcox AJ. Passive smoking in adulthood and cancer risk. Am J Epidemiol.1985;121(1):37-48.20)
  20. Rafique M, Javed AA. Role of intravenous urography and transabdominal ultrasonoghraphy in the diagnosis of bladder carcinoma. Int Braz J Urol 2004; 30: 185-191.
  21. Jinzaki M, Tanimoto A, Shinmoto H et al. Detection of bladder tumors with dynamic contrast-enhanced MDCT. AJR Am J Roetgentgenol 2007; 188(4): 913-918.
  22. Xie Q, Zhang J, Wu PH et al. Bladder transitional cell carcinoma: correlation of contrast enhancement on computed tomography with histological grade and tumor angiogenesis. Clin Radiol 2005; 60(2): 215-223.
  23. Kim JK, Park SY, Ahn HJ et al. Bladder cancer: analysis of multidetector row helical CT enhancement pattern and accurancy in tumor detection and perivescical staging. Radiology 2004; 231 (3): 725-731.
  24. Park SB, Kim JK, Lee HJ et al. Hematuria: portal venous phase multi detector row CT of the bladder ? a prospective study. Radiology 2007; 245 (3): 798-805.
  25. Caoili EM, Cohan RH, Inampudi P et al. MDCT urography of upper tract urothelial neoplasms. AJR Am J Roentgenol 2005; 184(6):1873-1881.
  26. Anderson EM, Murphy R, Rennie ATM et al. Multidetector computed tomography urography (MDCTU) for diagnosing urothelial malignancy. Clinical Radiology 2007; 62: 324-332.
  27. Beyersdorff D, Zhang J, Sch?der H et al. Bladder cancer: can imaging change patient management? Curr Opin Urol 2008; 18: 98-10
  28. Tsili ACh, Tsampoulas C, Chatziparaskevas N et al. Computed tomographic virtual cystoscopy for the detection of urinary bladder neoplasms. Eur Urol 2004; 46(5): 579-585.
  29. Browne RF, Murphy SM, Grainger R et al.CT cystography and virtual cystoscopy in the assessment of new and recurrent bladder neoplasms. Eur J Radiol 2005; 53(1): 147-153.
  30. Costantini F, Kopan R Patterning a complex organ: branching morphogenesis and nephron segmentation in kidney development. Developmental cell 2010 May 18;18(5):698-712 (full text)
  31. Garne E, Dolk H, Loane M et al. EUROCAT website data on prenatal detection rates of congenital anomalies. Journal of medical screening 2010;17(2):97-8
  32. Little MH, McMahon AP Mammalian kidney development: principles, progress, and projections. Cold Spring Harbor perspectives in biology 2012 May 1;4(5)
  33. Westland R, Schreuder MF, B?kenkamp A et al. Renal injury in children with a solitary functioning kidney--the KIMONO study. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2011 May;26(5):1533-41
  34. Corbani V, Ghiggeri GM, Sanna-Cherchi S et al. 'Congenital solitary functioning kidneys: which ones warrant follow-up into adult life?'. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2011 May;26(5):1458-60 (full text)
  35. Collins AJ, Foley RN, Herzog C et al. US Renal Data System 2012 Annual Data Report. American journal of kidney diseases : the official journal of the National Kidney Foundation 2013 Jan;61(1 Suppl 1):A7, e1-476
  36. Bates CM Role of fibroblast growth factor receptor signaling in kidney development. American journal of physiology. Renal physiology 2011 Aug;301(2):F245-51 (full text)
  37. Heidet L, Decramer S, Pawtowski A et al. Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clinical journal of the American Society of Nephrology : CJASN 2010 Jun;5(6):1079-90 (full text)
  38. Thomas R, Sanna-Cherchi S, Warady BA et al. HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort. Pediatric nephrology (Berlin, Germany) 2011 Jun;26(6):897-903
  39. Itsara A, Wu H, Smith JD et al. De novo rates and selection of large copy number variation. Genome research 2010 Nov;20(11):1469-81
  40. Little MH, McMahon AP Mammalian kidney development: principles, progress, and projections. Cold Spring Harbor perspectives in biology 2012 May 1;4(5)
  41. Madariaga L, Morini?re V, Jeanpierre C et al. Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. Clinical journal of the American Society of Nephrology : CJASN 2013 Jul;8(7):1179-87
  42. Sanna-Cherchi S, Sampogna RV, Papeta N et al. Mutations in DSTYK and dominant urinary tract malformations. The New England journal of medicine 2013 Aug 15;369(7):621-9 (full text)
  43. Bergmann C, von Bothmer J, Ortiz Br?chle N et al. Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. Journal of the American Society of Nephrology : JASN 2011 Nov;22(11):2047-56 (full text)
  44. Girirajan S, Rosenfeld JA, Coe BP et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. The New England journal of medicine 2012 Oct 4;367(14):1321-31
  45. Giorgio Maria Paul Graziano, et al Renal Ureteroscopy Treatment of Kidney and Bladder Stones International Journal of New Technology and Research (IJNTR) ISSN:2454-4116, Volume-2, Issue-5, May 2016 Pages 135-138
  46. Giorgio Maria Paolo Graziano et al Clinical and Molecular Anatomy of Gastrointestinal Stromal Tumors (GIST) International Journal of New Technology and Research (IJNTR) ISSN:2454-4116, Volume-2, Issue-4, April 2016 Pages 110-114
  47. Paolo Graziano GM, Cavallaro M, Graziano A (2016) The Familial Adenomatous Polyposis. A Difficult Problem, Between Prevention and Treatment. J Surg Surgical Res 2(1): 005-009.
  48. Sanna-Cherchi S, Kiryluk K, Burgess KE et al. Copy-number disorders are a common cause of congenital kidney malformations. American journal of human genetics 2012 Dec 7;91(6):987-97
  49. Conrad DF, Pinto D, Redon R et al. Origins and functional impact of copy number variation in the human genome. Nature 2010 Apr 1;464(7289):704-12
  50. Cooper GM, Coe BP, Girirajan S et al. A copy number variation morbidity map of developmental delay. Nature genetics 2011 Aug 14;43(9):838-46
  51. Serra-Juh? C, Rodr?guez-Santiago B, Cusc? I et al. Contribution of rare copy number variants to isolated human malformations. PloS one 2012;7(10). 455-60.

[Graziano Giorgio Maria Paul and Anthony Di Cataldo. (2017); CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT NEOPLASMS AND IN THE ELDERLY. Int. J. of Adv. Res. 5 (Mar). 265-273] (ISSN 2320-5407). www.journalijar.com


Graziano Giorgio MP
University of Catania

DOI:


Article DOI: 10.21474/IJAR01/3512      
DOI URL: http://dx.doi.org/10.21474/IJAR01/3512