Polycystic Kidney Disease

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Polycystic kidney disease (PKD) is a group of diseases characterized by dilatation of the tubular units of the kidney. The kidney tubules process the 140 liters of fluid filtered by the glomerulus into the final urine volume (0.5-2.0 liters) that is made daily. Cystic tubules are unable to perform this function properly, resulting in fluid retention, high blood pressure and kidney failure requiring dialysis or transplantation. In some forms of this disease, the dilated segments of tubules expand so much that they pinch off from the adjacent tubules and form very large, fluid filled structures that further damage the kidney and cause significant problems for patients (pain, infection, hemorrhage, kidney stones). The name “PKD” really is a misnomer, however, in that many individuals also have significant liver disease (sometimes necessitating liver transplant) and cardiovascular disease (resulting in hypertension, strokes, aneurysms of the blood vessels of the brain and aorta, and cardiac vascular disorders). For the most part, polycystic kidney disease is caused by mutations in the PKD1, PKD, and PKHD1 genes. Mutations in these genes cause both autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease. Acquired cystic kidney disease is nonhereditary, it most often occurs in people with long-term kidney damage. A person with polycystic kidney disease will experience symptoms as a result of the damage caused by cysts (fluid-filled sacs) that develop in the kidneys. The signs and symptoms of polycystic kidney disease will vary based on the type of the condition a person has. For example, symptoms of autosomal dominant polycystic kidney disease include headaches and pain in the back and the sides. Polycystic kidney disease symptoms that may occur in someone with acquired cystic kidney disease include urinary tract infections and

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