Cystic Diseases of the Kidney

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Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. The kidneys are two organs, each about the size of a fist, located in the upper part of a person's abdomen, toward the back. The kidneys filter wastes and extra fluid from the blood to form urine. They also regulate amounts of certain vital substances in the body. When cysts form in the kidneys, they are filled with fluid. PKD cysts can profoundly enlarge the kidneys while replacing much of the normal structure, resulting in reduced kidney function and leading to kidney failure.

When PKD causes kidneys to fail which usually happens after many years the patient requires dialysis or kidney transplantation. About one-half of people with the most common type of PKD progress to kidney failure, also called end-stage renal disease (ESRD). PKD can also cause cysts in the liver and problems in other organs, such as blood vessels in the brain and heart. The number of cysts as well as the complications they cause help doctors distinguish PKD from the usually harmless "simple" cysts that often form in the kidneys in later years of life.

Two major inherited forms of PKD exist:

Autosomal dominant PKD is the most common inherited form. Symptoms usually develop between the ages of 30 and 40, but they can begin earlier, even in childhood. About 90 percent of all PKD cases are autosomal dominant PKD.

Autosomal recessive PKD is a rare inherited form. Symptoms of autosomal recessive PKD begin in the earliest months of life, even in the womb.

 

  • Role of mutation
  • Autosomal polycystic kidney disease
  • Renal carcinoma
  • Genetic kidney disease in neonates
  • Cystic diseases of the Kidney
  • Fabry disease
  • Sickle cell nephropathy
  • Familial Hematurias: Alport syndrome & thin basement membrane nephropathy
  • Acquired cystic kidney disease
  • Polycystic Kidney Disease

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