Autosomal dominant polycystic kidney disease


What is autosomal dominant polycystic kidney disease syndrome?

Autosomal dominant polycystic kidney disease or ADPKD is a genetic disorder. This means that people have a problem in a specific gene. People have about 20,000-25,000 genes in their bodies. Genes are like our body's instruction manual - they control the growth, development and normal function of the body. Because of a change in one of at least two different genes, people with ADPKD lack a protein. These proteins are vital to the health, development and function of the kidneys. Affected individuals develop thousands of cysts in the kidneys that damage the kidneys and impair their function. For many people, the disease will progress to end-stage renal failure, requiring a kidney transplant, usually later in adulthood. Despite its name, cysts can also form in other areas of the body damaging other organs and causing symptoms unrelated to the kidneys. This includes the liver, heart, central nervous system, and the gastrointestinal tract are other areas that can be involved. The symptoms, severity and progression varies. This means how the disease affects one person can be very different from how it affects another person. This is true even for people in the same family. Most people do not develop symptoms until they are adults. Some people may never develop symptoms throughout their entire lives. However, sometimes children will show symptoms. In most people, ADPKD is caused by a change in one of two genes, the PKD1 gene or the PKD2 gene.

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Autosomal Dominant Polycystic Kidney Disease. The National Organization for Rare Diseases website. Accessed Jan 20, 2016.

Torres VE, Bennett WM. Diagnosis and Screening for Autosomal Dominant Polycystic Kidney Disease. UpToDate website. Accessed Dec 14, 2016.

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