Encyclopedia of Cancer

Living Edition
| Editors: Manfred Schwab

Polycystic Kidney Disease

  • Yiqiang Cai
Living reference work entry
DOI: https://doi.org/10.1007/978-3-642-27841-9_4667-2



Polycystic kidney disease is a common genetic disease characterized by accumulation of multiple fluid-filled cysts in each kidney and other organs. The renal cysts originate from the renal tubular epithelial cells lined by a single layer of cells that have higher rates of cellular proliferation and apoptosis and are less differentiated than the normal tubular cells. Progression of cysts in the kidneys could ultimately cause end-stage renal disease.


PKD (Polycystic Kidney Disease) consists of two forms: ADPKD (Autosomal Dominant Polycystic Kidney Disease) and ARPKD (Autosomal Recessive Polycystic Kidney Disease). ADPKD is the most common genetic disease affecting 1 in 500 to 1 in 1,000 in adults of all ethnic groups worldwide. ARPKD is far less common, affecting 1 in 6,000 to 1 in 40,000 at a far younger age, including newborns, infants, and children. While kidney cysts arise from all the segments of the...


Autosomal Dominant Polycystic Kidney Disease Polycystic Kidney Disease Primary Cilium Kidney Volume Autosomal Recessive Polycystic Kidney Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
This is a preview of subscription content, log in to check access.


  1. Cai Y, Fedeles SV, Dong K, Anyatonwu G, Onoe T, Mitobe M, Gao J-D, Okuhara D, Tian X, Gallagher A-R, Tang Z, Xie X, Lalioti MD, Lee A-H, Ehrlich BE, Somlo S (2014) Altered trafficking and stability of polycystins underlie polycystic kidney disease. J Clin Invest 124(12):5129–5144CrossRefPubMedPubMedCentralGoogle Scholar
  2. Chebib FT, Sussman CR, Wang X, Harris PC, Torres VE (2015) Vasopressin and disruption of calcium signalling in polycystic kidney disease. Nat Rev Nephrol 11(8):451–464CrossRefPubMedPubMedCentralGoogle Scholar
  3. Fedeles SV, Tian X, Gallagher AR, Mitobe M, Nishio S, Lee SH, Cai Y, Geng L, Crews CM, Somlo S (2011) A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation. Nat Genet 43(7):639–647CrossRefPubMedPubMedCentralGoogle Scholar
  4. Guay-Woodford LM (2003) Murine models of polycystic kidney disease: molecular and therapeutic insights. Am J Physiol Renal Physiol 285:F1034–F1049CrossRefPubMedGoogle Scholar
  5. Igarashi P, Somlo S (2002) Genetics and pathogenesis of polycystic kidney disease. J Am Soc Nephrol 13:2384–2398CrossRefPubMedGoogle Scholar
  6. Ma M, Tian X, Igarashi P, Pazour GJ, Somlo S (2013) Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease. Nat Genet 45(9):1004–1012CrossRefPubMedPubMedCentralGoogle Scholar
  7. Torres VE, Harris PC (2006) Mechanisms of disease: autosomal dominant and recessive polycystic kidney diseases. Nat Clin Pract Nephrol 2:40–55CrossRefPubMedGoogle Scholar
  8. Walz G (2006) Therapeutic approaches in autosomal dominant polycystic kidney disease (ADPKD): is there light at the end of the tunnel? Nephrol Dial Transplant 21:1752–1757CrossRefPubMedGoogle Scholar
  9. Yoder BK, Mulroy S, Eustace H, Boucher C, Sandford R (2006) Molecular pathogenesis of autosomal dominant polycystic kidney disease. Expert Rev Mol Med 8:1–22CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  1. 1.Section of NephrologyYale University School of MedicineNew HavenUSA