Autosomal Dominant Polycystic Kidney

Autosomal Dominant Polycystic Kidney

Autosomal dominant polycystic kidney disease ("ADPKD", "autosomal dominant PKD" or "Adult-onset PKD") is an inherited systemic disorder that predominantly affects the kidneys, but may affect other organs including the liver, pancreas, brain, and arterial blood vessels. Approximately 50% of people with this disease will develop end stage kidney disease and require dialysis or kidney transplantation. Progression to end stage kidney disease usually happens in the 4th to 6th decades of life. Autosomal dominant polycystic kidney disease occurs worldwide and affects about 1 in 400 to 1 in 1000 people.

Defects in two genes are thought to be responsible for ADPKD. In 85% of patients, ADPKD is caused by mutations in the gene PKD1 on chromosome 16 (TRPP1); in 15% of patients mutations in PKD2 (TRPP2) are causative.

Autosomal recessive polycystic kidney disease is a distinct disease that also leads to cysts in the kidneys and liver, typically presents in childhood, only affects about 1 in 20,000 people and has different causes and prognosis.

Read more about Autosomal Dominant Polycystic Kidney:  Pathophysiology, Genetics, Diagnosis, Treatment, Prognosis

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