Polycystic kidney disease

Last updated: September 6, 2022

Summarytoggle arrow icon

Polycystic kidney disease (PKD) is an inherited disorder characterized by the development of multiple cysts in the kidneys. It is classified into two distinct disorders: autosomal recessive PKD (ARPKD) and autosomal dominant PKD (ADPKD). ARPKD manifests with severe pulmonary insufficiency and progressive renal failure with onset during infancy or early childhood. If left untreated, ARPKD is typically lethal before adolescence. ADPKD manifests with flank pain, arterial hypertension, and progressive kidney disease with onset in adulthood. Early diagnosis and treatment may prevent or delay end-stage renal disease in both conditions, but kidney transplantation is the only curative treatment option.

Epidemiological data refers to the US, unless otherwise specified.




Further diagnostic tests

Renal cysts

Acquired cystic kidney disease

Multicystic dysplastic kidneys

Autosomal dominant tubulointerstitial kidney disease (ADTKD) [16]

Medullary sponge kidney

Nephronophthisis (NPHP)

Obstructive cystic dysplasia

Von Hippel–Lindau disease

The differential diagnoses listed here are not exhaustive.

  1. Grantham JJ, Torres VE, Chapman AB, et al. Volume Progression in Polycystic Kidney Disease. N Engl J Med. 2006; 354 (20): p.2122-2130. doi: 10.1056/nejmoa054341 . | Open in Read by QxMD
  2. Hoyer PF. Clinical manifestations of autosomal recessive polycystic kidney disease. Curr Opin Pediatr. 2015; 27 (2): p.186-192. doi: 10.1097/mop.0000000000000196 . | Open in Read by QxMD
  3. Polycystic Kidney Disease, Autosomal Recessive.. https://www.ncbi.nlm.nih.gov/books/NBK1326/. . Accessed: December 30, 2019.
  4. Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE. Polycystic kidney disease.. Nature reviews. Disease primers. 2018; 4 (1): p.50. doi: 10.1038/s41572-018-0047-y . | Open in Read by QxMD
  5. Stavljenić-Rukavina A. 5. Hereditary Kidney Disorders.. EJIFCC. 2009; 20 (1): p.33-40.
  6. Chebib FT, Torres VE. Autosomal Dominant Polycystic Kidney Disease: Core Curriculum 2016. American Journal of Kidney Diseases. 2016; 67 (5): p.792-810. doi: 10.1053/j.ajkd.2015.07.037 . | Open in Read by QxMD
  7. Hartung EA, Guay-Woodford LM. Autosomal Recessive Polycystic Kidney Disease: A Hepatorenal Fibrocystic Disorder With Pleiotropic Effects. Pediatrics. 2014; 134 (3): p.e833-e845. doi: 10.1542/peds.2013-3646 . | Open in Read by QxMD
  8. Willey C, Kamat S, Stellhorn R, Blais J. Analysis of Nationwide Data to Determine the Incidence and Diagnosed Prevalence of Autosomal Dominant Polycystic Kidney Disease in the USA: 2013–2015. Kidney Diseases. 2019; 5 (2): p.107-117. doi: 10.1159/000494923 . | Open in Read by QxMD
  9. Tamparo CD, Lewis MA. Diseases of the Human Body. F A Davis Company ; 2011
  10. Rossetti S, Consugar MB, Chapman AB, et al. Comprehensive Molecular Diagnostics in Autosomal Dominant Polycystic Kidney Disease. Journal of the American Society of Nephrology. 2007; 18 (7): p.2143-2160. doi: 10.1681/asn.2006121387 . | Open in Read by QxMD
  11. Pei Y. Diagnostic Approach in Autosomal Dominant Polycystic Kidney Disease. CJASN. 2006; 1 (5): p.1108-1114. doi: 10.2215/cjn.02190606 . | Open in Read by QxMD
  12. Harris PC. 2008 Homer W. Smith Award: Insights into the Pathogenesis of Polycystic Kidney Disease from Gene Discovery. Journal of the American Society of Nephrology. 2009; 20 (6): p.1188-1198. doi: 10.1681/asn.2009010014 . | Open in Read by QxMD
  13. Halvorson C, Bremmer M, Jacobs S. Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment. International Journal of Nephrology and Renovascular Disease. 2010; 3 : p.69-83. doi: 10.2147/ijnrd.s6939 . | Open in Read by QxMD
  14. GHR - PKHD1 gene. https://ghr.nlm.nih.gov/gene/PKHD1. Updated: December 10, 2019. Accessed: January 2, 2020.
  15. Hateboer N, v Dijk MA, Bogdanova N, et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. The Lancet. 1999; 353 (9147): p.103-107. doi: 10.1016/s0140-6736(98)03495-3 . | Open in Read by QxMD
  16. Gibbs GF, Huston J, Qian Q, et al. Follow-up of intracranial aneurysms in autosomal-dominant polycystic kidney disease. Kidney Int. 2004; 65 (5): p.1621-1627. doi: 10.1111/j.1523-1755.2004.00572.x . | Open in Read by QxMD
  17. Kasper DL, Fauci AS, Hauser SL, Longo DL, Lameson JL, Loscalzo J. Harrison's Principles of Internal Medicine. McGraw-Hill Education ; 2015
  18. Sanchis IM, Shukoor S, Irazabal MV, et al. Presymptomatic Screening for Intracranial Aneurysms in Patients with Autosomal Dominant Polycystic Kidney Disease. Clinical Journal of the American Society of Nephrology. 2019; 14 (8): p.1151-1160. doi: 10.2215/cjn.14691218 . | Open in Read by QxMD
  19. Devuyst O et al. Autosomal dominant tubulointerstitial kidney disease. Nature Reviews Disease Primers. 2019; 5 (1). doi: 10.1038/s41572-019-0109-9 . | Open in Read by QxMD
  20. Kirby A, Gnirke A, Jaffe DB, et al. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet. 2013; 45 (3): p.299-303. doi: 10.1038/ng.2543 . | Open in Read by QxMD
  21. Gambaro G, Danza FM, Fabris A. Medullary sponge kidney. Curr Opin Nephrol Hypertens. 2013; 22 (4): p.421-426. doi: 10.1097/mnh.0b013e3283622b86 . | Open in Read by QxMD
  22. Luo F, Tao YH. Nephronophthisis: A review of genotype-phenotype correlation.. Nephrology (Carlton). 2018; 23 (10): p.904-911. doi: 10.1111/nep.13393 . | Open in Read by QxMD
  23. Nephronophthisis.. https://www.ncbi.nlm.nih.gov/books/NBK368475/. Updated: June 23, 2016. Accessed: October 6, 2020.
  24. Obstructive cystic renal dysplasia. https://radiopaedia.org/articles/obstructive-cystic-renal-dysplasia. Updated: January 1, 2017. Accessed: January 3, 2020.
  25. Torres VE, Chapman AB, Devuyst O, et al. Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease. N Engl J Med. 2017; 377 (20): p.1930-1942. doi: 10.1056/nejmoa1710030 . | Open in Read by QxMD
  26. Brook-Carter PT, Peral B, Ward CJ, et al. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome. Nat Genet. 1994; 8 (4): p.328-332. doi: 10.1038/ng1294-328 . | Open in Read by QxMD
  27. Yu Y, Ma L, Wang Z, Zhang Z. Renal cell carcinoma presenting as a simple renal cyst: A case report. Molecular and Clinical Oncology. 2017; 6 (4): p.550-552. doi: 10.3892/mco.2017.1173 . | Open in Read by QxMD

3 free articles remaining

You have 3 free member-only articles left this month. Sign up and get unlimited access.
 Evidence-based content, created and peer-reviewed by physicians. Read the disclaimer