Polycystic Kidney Disease
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...
KeywordsAutosomal Dominant Polycystic Kidney Disease Polycystic Kidney Disease Primary Cilium Kidney Volume Autosomal Recessive Polycystic Kidney Disease
- 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
- 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