What is autosomal dominant polycystic kidney disease?Autosomal dominant PKD is the most common form of PKD and the most common inherited disorder of the kidneys.3 The term autosomal dominant means a child can get the disorder by inheriting the gene mutation from only one parent. Each child of a parent with an autosomal dominant mutation has a 50 percent chance of inheriting the mutated gene. About 10 percent of autosomal dominant PKD cases occur spontaneously.4The following chart shows the chance of inheriting an autosomal dominant gene mutation:
Each child with a parent with an autosomal dominant mutation has a 50 percent chance of inheriting the mutated gene.Health care providers identify most cases of autosomal dominant PKD between the ages of 30 and 50.4 For this reason, health care providers often call autosomal dominant PKD “adult PKD.” However, the onset of kidney damage and how quickly the disorder progresses varies. In some cases, cysts may form earlier in life and grow quickly, causing symptoms in childhood.
Polycystic kidneys enlarge along with the cysts, while roughly retaining their kidney shape.The cysts grow out of nephrons, the tiny filtering units inside the kidneys. The cysts eventually separate from the nephrons and continue to enlarge. The kidneys enlarge along with the cysts—which can number in the thousands—while roughly retaining their kidney shape. In fully developed autosomal dominant PKD, a cyst-filled kidney can weigh as much as 20 to 30 pounds.What are the signs and symptoms of autosomal dominant polycystic kidney disease?In many cases, PKD does not cause signs or symptoms until cysts are half an inch or larger. When present, the most common symptoms are pain in the back and sides—between the ribs and hips—and headaches. The pain can be temporary or persistent, mild or severe. Hematuria—blood in the urine—may also be a sign of autosomal dominant PKD.
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