Skip to main content

Congenital Upper Tract Anomalies: Duplication, Cystic Renal Dysplasia, Multicystic Dysplastic Kidney

  • Chapter
  • First Online:
Practical Pediatric Urology
  • 848 Accesses

Abstract

Congenital anomalies of the kidneys or lower urinary tract (CAKUT) are the most common causes of renal failure in children and lead to approximately 25% of end-stage renal disease in adults. Amongst the spectrum of anomalies includes renal duplication, cystic renal dysplasia, and Multicystic Dyplastic Kidney (MCDK). Developmental defects leading to these entities can occur in isolation or as part of a syndromic pattern. This chapter provides a practical overview of the diagnosis, pathophysiology, and management options for the common and most clinically significant congenital upper tract anomalies.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 89.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 119.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Little MH, McMahon AP. Mammalian kidney development: principles, progress, and projections. Cold Spring Harb Perspect Biol. 2012;4:a008300.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Meyer R. Normal and abnormal development of the ureter in the human embryo; a mechanistic consideration. Anat Rec. 1946;96(4):355–71.

    Article  CAS  PubMed  Google Scholar 

  3. Whitten SM, Wilcox DT. Duplex systems. Prenat Diagn. 2001;21:952–7.

    Article  CAS  PubMed  Google Scholar 

  4. Bisset GS III, Strife JL. The duplex collecting system in girls with urinary tract infection: prevalence and significance. AJR Am J Roentgenol. 1987;148(3):497–500.

    Article  PubMed  Google Scholar 

  5. Afshar K, Papanikolaou F, Malek R, Bagli D, Pippi-Salle JL, Khoury A. Vesicoureteral reflux and complete ureteral duplication. Conservative or surgical management? J Urol. 2005;173(5):1725–7.

    Article  PubMed  Google Scholar 

  6. Belman AB, Filmer RB, King LR. Surgical management of duplication of the collecting system. J Urol. 1974;112(3):316–21.

    Article  CAS  PubMed  Google Scholar 

  7. Hensle TW, Reiley EA, Ritch C, Murphy A. The clinical utility and safety of the endoscopic treatment of vesicoureteral reflux in patients with duplex ureters. J Pediatr Urol. 2010;6(1):15–22.

    Article  CAS  PubMed  Google Scholar 

  8. Cain MP, Pope JC, Casale AJ, Adams MC, Keating MA, Rink RC. Natural history of refluxing distal ureteral stumps after nephrectomy and partial ureterectomy for vesicoureteral reflux. J Urol. 1998;160(3 Pt 2):1026–7.

    Article  CAS  PubMed  Google Scholar 

  9. De Caluwe D, Chertin B, Puri P. Fate of the retained ureteral stump after upper pole heminephrectomy in duplex kidneys. J Urol. 2002;168(2):679–80.

    Article  PubMed  Google Scholar 

  10. Caldamone AA, Snyder HM III, Duckett JW. Ureteroceles in children: followup of management with upper tract approach. J Urol. 1984;131(6):1130–2.

    Article  CAS  PubMed  Google Scholar 

  11. Hakim RM, Breyer J, Ismail N, Schulman G. Effects of dose of dialysis on morbidity and mortality. Am J Kidney Dis. 1994;23(5):661–9.

    Article  CAS  PubMed  Google Scholar 

  12. Resseguie LJ, Nobrega FT, Farrow GM, Timmons JW, Worobec TG. Epidemiology of renal and ureteral cancer in Rochester, Minnesota, 1950-1974, with special reference to clinical and pathologic features. Mayo Clin Proc. 1978;53(8):503–10.

    CAS  PubMed  Google Scholar 

  13. Truong LD, Choi YJ, Shen SS, Ayala G, Amato R, Krishnan B. Renal cystic neoplasms and renal neoplasms associated with cystic renal diseases: pathogenetic and molecular links. Adv Anat Pathol. 2003;10(3):135–59. Review

    Article  CAS  PubMed  Google Scholar 

  14. Heinz-Peer G, Schoder M, Rand T, Mayer G, Mostbeck GH. Prevalence of acquired cystic kidney disease and tumors in native kidneys of renal transplant recipients: a prospective US study. Radiology. 1995;195(3):667–71.

    Article  CAS  PubMed  Google Scholar 

  15. Fick-Brosnahan GM, Tran ZV, Johnson AM, Strain JD, Gabow PA. Progression of autosomal-dominant polycystic kidney disease in children. Kidney Int. 2001;59(5):1654–62.

    Article  CAS  PubMed  Google Scholar 

  16. Liapis H, Winyard PJD. Cystic diseases and developmental kidney defects. In: Jennette JC, Olson JL, Schwartz MM, Silva FG, editors. Heptinstall’s pathology of the kidney, vol. 2. 6th ed. Philadephia: Lippincott Williams and Wilkins; 2007. p. 1257–306.

    Google Scholar 

  17. Harris PC, Rossetti S. Molecular diagnostics for autosomal dominant polycystic kidney disease. Nat Rev Nephrol. 2010;6(4):197–206.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  18. Wilson PD. Polycystic kidney disease: new understanding in the pathogenesis. Int J Biochem Cell Biol. 2004;36(10):1868–73.

    Article  CAS  PubMed  Google Scholar 

  19. Keith DS, Torres VE, King BF, Zincki H, Farrow GM. Renal cell carcinoma in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 1994;4(9):1661–9. Review

    CAS  PubMed  Google Scholar 

  20. Zerres K, Rudnik-Schöneborn S, Steinkamm C, Becker J, Mücher G. Autosomal recessive polycystic kidney disease. J Mol Med (Berl). 1998;76(5):303–9. Review

    Article  CAS  Google Scholar 

  21. Winyard P, Chitty LS. Dysplastic kidneys. Semin Fetal Neonatal Med. 2008;13(3):142–51.

    Article  PubMed  Google Scholar 

  22. Guay-Woodford LM, Desmond RA. Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics. 2003;111(5 Pt 1):1072–80.

    Article  PubMed  Google Scholar 

  23. Bergmann C, Senderek J, Windelen E, Kupper F, Middeldorf I, Schneider F, Dornia C, Rudnik-Schoneborn S, Konrad M, Schmitt CP, Seeman T, Neuhaus TJ, Vester U, Kirfel J, Buttner R, Zerres K. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int. 2005;67(3):829–48.

    Article  CAS  PubMed  Google Scholar 

  24. Wang S, Zhang J, Nauli SM, Li X, Starremans PG, Luo Y, Roberts KA, Zhou J. Fibrocystin/polyductin, found in the same protein complex with polycystin-2, regulates calcium responses in kidney epithelia. Mol Cell Biol. 2007;27(8):3241–52.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  25. Sancak O, Nellist M, Goedbloed M, Elfferich P, Wouters C, Maat-Kievit A, Zonnenberg B, Verhoef S, Halley D, van den Ouweland A. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex. Eur J Hum Genet. 2005;13(6):731–41.

    Article  CAS  PubMed  Google Scholar 

  26. Chonko AM, Weiss SM, Stein JH, Ferris TF. Renal involvement in tuberous sclerosis. Am J Med. 1974;56(1):124–32.

    Article  CAS  PubMed  Google Scholar 

  27. Bernstein J. Renal cystic disease in the tuberous sclerosis complex. Pediatr Nephrol. 1993;7(4):490–5. Review

    Article  CAS  PubMed  Google Scholar 

  28. Neumann HP, Bender BU, Schultze-Seemann W, Krause T, Altehoefer C, Scheremet R, Orszagh M, Schwarzkopf G, Januszewicz A, Janetschek G, Riegler P. The kidney and von Hippel–Lindau disease: impact of molecular genetic analysis of the VHL gene for clinical management. Contrib Nephrol. 1997;122:102–8. Review

    Article  CAS  PubMed  Google Scholar 

  29. Levine E, Collins DL, Horton WA, Schimke RN. CT screening of the abdomen in von Hippel-Lindau disease. AJR Am J Roentgenol. 1982;139(3):505–10.

    Article  CAS  PubMed  Google Scholar 

  30. Tanagho EA. Surgically induced partial urinary obstruction in the fetal lamb. 3. Ureteral obstruction. Investig Urol. 1972;10(1):35–52.

    CAS  Google Scholar 

  31. Mackie GG, Stephens FD. Duplex kidneys: a correlation of renal dysplasia with position of the ureteral orifice. J Urol. 1975;114(2):274–80.

    Article  CAS  PubMed  Google Scholar 

  32. al-Khaldi N, Watson AR, Zuccollo J, Twining P, Rose DH. Outcome of antenatally detected cystic dysplastic kidney disease. Arch Dis Child. 1994;70(6):520–2.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  33. Flack CE, Bellinger MF. The multicystic dysplastic kidney and contralateral vesicoureteral reflux: protection of the solitary kidney. J Urol. 1993;150(6):1873–4.

    Article  CAS  PubMed  Google Scholar 

  34. Calaway AC, Whittam B, Szymanski DM, Misseri R, Kaefer M, Rink RC, et al. Multicystic dysplastic kidney: is an initial voiding cystourethrogram necessary? Can J Urol. 2014;21:7510–4.

    PubMed  Google Scholar 

  35. Beckwith JB. Wilms tumor and multicystic dysplastic kidney disease. Editorial Comment J Urol. 1997;158:2259–60.

    Google Scholar 

  36. Noe HN, Marshall JH, Edwards OP. Nodular renal blastema in the multicystic kidney. J Urol. 1989;142:486–8.

    Article  CAS  PubMed  Google Scholar 

  37. Aslam M, Watson AR, on behalf of the Trent & Anglia MCDK Study Group. Unilateral multicystic dysplastic kidney: long term outcomes. Arch Dis Child. 2006;91:820–3.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  38. Snodgrass WT. Hypertension associated with multicystic dysplastic kidney in children. J Urol. 2000;164(2):472–3;discussion 473–4

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to David Chalmers .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2021 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Chalmers, D. (2021). Congenital Upper Tract Anomalies: Duplication, Cystic Renal Dysplasia, Multicystic Dysplastic Kidney. In: Godbole, P., Wilcox, D.T., Koyle, M.A. (eds) Practical Pediatric Urology. Springer, Cham. https://doi.org/10.1007/978-3-030-54020-3_10

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-54020-3_10

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-54019-7

  • Online ISBN: 978-3-030-54020-3

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics