Abdominal Radiology

, Volume 41, Issue 6, pp 1035–1051 | Cite as

Inherited renal cystic diseases

  • Bohyun Kim
  • Bernard F. KingJr.
  • Terri J. Vrtiska
  • Maria V. Irazabal
  • Vicente E. Torres
  • Peter C. Harris
Pictorial Essay
First Online:

Abstract

A number of inherited renal diseases present with renal cysts and often lead to end-stage renal disease. With recent advances in genetics, increasing number of genes and mutations have been associated with cystic renal diseases. Although genetic testing can provide a definite diagnosis, it is often reserved for equivocal cases or for ongoing investigational research. Therefore, imaging findings are essential in the routine diagnosis, follow-up, and detection of complications in patients with inherited cystic renal diseases. In this article, the most recent classification, genetic analysis, clinical presentations, and imaging findings of inherited cystic renal diseases will be discussed.

Keywords

Hereditary renal disease Cystic renal disease Imaging Polycystic kidney disease 
This is a preview of subscription content, log in to check access.

Notes

Compliance with ethical standards

Conflict of interest

None.

Ethical approval

This article does not contain any studies with human participants or animals performed by any of the authors.

References

  1. 1.
    Phillips CA-KM (2013) Renal Cystic diseases. In: Lager DJAN (ed) Practical renal pathology. Philadelphia: Elsevier Saunders, pp 15–46Google Scholar
  2. 2.
    Torres VEGJ (2012) Cystic diseases of the kidney. In: Taal MWCG, Marsden PA, Skorecki K, Yu ASL, Brenner BM (eds) Brenner and rector’s the kidney, 9th edn. Philadelphia: Elsevier Saunders, pp 1626–1667CrossRefGoogle Scholar
  3. 3.
    Bisceglia M, Galliani CA, Senger C, Stallone C, Sessa A (2006) Renal cystic diseases: a review. Adv Anat Pathol 13(1):26–56. doi: 10.1097/01.pap.0000201831.77472.d3 CrossRefPubMedGoogle Scholar
  4. 4.
    Torres VE, Harris PC (2009) Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int 76(2):149–168. doi: 10.1038/ki.2009.128 CrossRefPubMedPubMedCentralGoogle Scholar
  5. 5.
    Harris PC, Bae KT, Rossetti S, et al. (2006) Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 17(11):3013–3019. doi: 10.1681/ASN.2006080835 CrossRefPubMedGoogle Scholar
  6. 6.
    Hateboer N, v Dijk MA, Bogdanova N, et al. (1999) Comparison of phenotypes of polycystic kidney disease types 1 and 2. Lancet 353(9147):103–107CrossRefPubMedGoogle Scholar
  7. 7.
    Cornec-Le Gall E, Audrezet MP, Chen JM, et al. (2013) Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol 24(6):1006–1013. doi: 10.1681/ASN.2012070650 CrossRefPubMedPubMedCentralGoogle Scholar
  8. 8.
    Gabow PA, Johnson AM, Kaehny WD, et al. (1990) Risk factors for the development of hepatic cysts in autosomal dominant polycystic kidney disease. Hepatology 11(6):1033–1037CrossRefPubMedGoogle Scholar
  9. 9.
    Torres VE, Erickson SB, Smith LH, et al. (1988) The association of nephrolithiasis and autosomal dominant polycystic kidney disease. Am J Kidney Dis 11(4):318–325CrossRefPubMedGoogle Scholar
  10. 10.
    Irazabal MV, Rangel LJ, Bergstralh EJ, et al. (2015) Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials. J Am Soc Nephrol 26(1):160–172. doi: 10.1681/ASN.2013101138 CrossRefPubMedPubMedCentralGoogle Scholar
  11. 11.
    Grantham JJ, Torres VE, Chapman AB, et al. (2006) Volume progression in polycystic kidney disease. N Engl J Med 354(20):2122–2130. doi: 10.1056/NEJMoa054341 CrossRefPubMedGoogle Scholar
  12. 12.
    Torres VE, King BF, Chapman AB, et al. (2007) Magnetic resonance measurements of renal blood flow and disease progression in autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol 2(1):112–120. doi: 10.2215/CJN.00910306 CrossRefPubMedGoogle Scholar
  13. 13.
    Pei Y, Obaji J, Dupuis A, et al. (2009) Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol 20(1):205–212. doi: 10.1681/ASN.2008050507 CrossRefPubMedPubMedCentralGoogle Scholar
  14. 14.
    Pei Y, Hwang YH, Conklin J, et al. (2015) Imaging-based diagnosis of autosomal dominant polycystic kidney disease. J Am Soc Nephrol 26(3):746–753. doi: 10.1681/ASN.2014030297 CrossRefPubMedPubMedCentralGoogle Scholar
  15. 15.
    Tan YC, Blumenfeld J (1812) Rennert H (2011) Autosomal dominant polycystic kidney disease: genetics, mutations and microRNAs. Biochim Biophys Acta 10:1202–1212. doi: 10.1016/j.bbadis.2011.03.002 Google Scholar
  16. 16.
    Jouret F, Lhommel R, Devuyst O, et al. (2012) Diagnosis of cyst infection in patients with autosomal dominant polycystic kidney disease: attributes and limitations of the current modalities. Nephrol Dial Transplant 27(10):3746–3751. doi: 10.1093/ndt/gfs352 CrossRefPubMedGoogle Scholar
  17. 17.
    Keith DS, Torres VE, King BF, Zincki H, Farrow GM (1994) Renal cell carcinoma in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 4(9):1661–1669PubMedGoogle Scholar
  18. 18.
    Bernstein J, Evan AP, Gardner KD Jr (1987) Human cystic kidney diseases: epithelial hyperplasia in the pathogenesis of cysts and tumors. Pediatr Nephrol 1(3):393–396CrossRefPubMedGoogle Scholar
  19. 19.
    Rizk DCA (2005) Polycystic and other cystic renal diseases. In: Greenberg ACA, Falk RJ, Coffman TM, Jennette JC (eds) Primer on kidney diseases. Philadelphia: Saunders, pp 356–362Google Scholar
  20. 20.
    Guay-Woodford LM, Desmond RA (2003) Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics 111(5 Pt 1):1072–1080CrossRefPubMedGoogle Scholar
  21. 21.
    Adeva M, El-Youssef M, Rossetti S, et al. (2006) Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore) 85(1):1–21. doi: 10.1097/01.md.0000200165.90373.9a CrossRefGoogle Scholar
  22. 22.
    Kaariainen H, Jaaskelainen J, Kivisaari L, Koskimies O, Norio R (1988) Dominant and recessive polycystic kidney disease in children: classification by intravenous pyelography, ultrasound, and computed tomography. Pediatr Radiol 18(1):45–50CrossRefPubMedGoogle Scholar
  23. 23.
    Eckardt KU, Alper SL, Antignac C, et al. (2015) Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management–A KDIGO consensus report. Kidney Int 88(4):676–683. doi: 10.1038/ki.2015.28 CrossRefPubMedGoogle Scholar
  24. 24.
    Igarashi P, Shao X, McNally BT, Hiesberger T (2005) Roles of HNF-1beta in kidney development and congenital cystic diseases. Kidney Int 68(5):1944–1947. doi: 10.1111/j.1523-1755.2005.00625.x CrossRefPubMedGoogle Scholar
  25. 25.
    Bockenhauer D, Jaureguiberry G (2015) HNF1B-associated clinical phenotypes: the kidney and beyond. Pediatr Nephrol . doi: 10.1007/s00467-015-3142-2 Google Scholar
  26. 26.
    Faguer S, Chassaing N, Bandin F, et al. (2014) The HNF1B score is a simple tool to select patients for HNF1B gene analysis. Kidney Int 86(5):1007–1015. doi: 10.1038/ki.2014.202 CrossRefPubMedGoogle Scholar
  27. 27.
    Hildebrandt F, Attanasio M, Otto E (2009) Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol 20(1):23–35. doi: 10.1681/ASN.2008050456 CrossRefPubMedPubMedCentralGoogle Scholar
  28. 28.
    Gambaro G, Feltrin GP, Lupo A, et al. (2006) Medullary sponge kidney (Lenarduzzi-Cacchi-Ricci disease): a Padua Medical School discovery in the 1930s. Kidney Int 69(4):663–670. doi: 10.1038/sj.ki.5000035 CrossRefPubMedGoogle Scholar
  29. 29.
    Northrup H, Krueger DA (2013) Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 49(4):243–254. doi: 10.1016/j.pediatrneurol.2013.08.001 CrossRefPubMedPubMedCentralGoogle Scholar
  30. 30.
    Liapis HWP (2015) Cystic disease and developmental kidney defects. In: Jennette JCOJ, Silva FG, D’Agati VD (eds) Heptinstall’s pathology of the kidney. Philadelphia: Wolters Kluwer, pp 119–171Google Scholar
  31. 31.
    Ding Y, Chen L, Deng FM, et al. (2013) Localized cystic disease of the kidney: distinction from cystic neoplasms and hereditary polycystic diseases. Am J Surg Pathol 37(4):506–513. doi: 10.1097/PAS.0b013e318271eff9 CrossRefPubMedGoogle Scholar
  32. 32.
    Torres VE, Harris PC, Pirson Y (2007) Autosomal dominant polycystic kidney disease. Lancet 369(9569):1287–1301. doi: 10.1016/S0140-6736(07)60601-1 CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  • Bohyun Kim
    • 1
  • Bernard F. KingJr.
    • 1
  • Terri J. Vrtiska
    • 1
  • Maria V. Irazabal
    • 2
  • Vicente E. Torres
    • 2
  • Peter C. Harris
    • 2
  1. 1.Department of RadiologyMayo Clinic College of MedicineRochesterUSA
  2. 2.Division of Nephrology and HypertensionMayo Clinic College of MedicineRochesterUSA

Personalised recommendations