[From gene to disease; from polycystines to polycystic kidney disease].
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disease that results in multiple cysts in the kidneys and other organs and leads to endstage renal failure relatively late in life. The disease results from mutations in one of two independently segregating genes that under normal conditions produce polycystines. Polycystines are membrane proteins that form a complex involved in signal transduction in epithelial cells. Genetic heterogeneity explains in part the various ADPKD phenotypes.
Peters
D J
DJ
Leids Universitair Medisch Centrum, Postbus 9600, 2300 RC Leiden.
Paul
L C
LC
D002135:Calcium-Binding Proteins / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D015994:Incidence; D007676:Kidney Failure, Chronic / Q000453:epidemiology / Q000209:etiology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009426:Netherlands / Q000453:epidemiology; D016891:Polycystic Kidney, Autosomal Dominant / Q000453:epidemiology / Q000235:genetics* / Q000401:mortality; D011296:Prenatal Diagnosis; D011506:Proteins / Q000235:genetics*; D017678:Sex Distribution; D015996:Survival Rate; D050396:TRPP Cation Channels
D002135:Calcium-Binding Proteins; D008565:Membrane Proteins; D011506:Proteins; D050396:TRPP Cation Channels
Van gen naar ziekte; van polycystinen naar polycysteuze nierziekten.