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Polycystic kidney disease

An inherited and currently incurable disease that causes chronic cysts, eventually leading to kidney failure

Polycystic kidney disease (PKD) is a group of diseases that cause cysts to grow in the kidneys. These can become quite large and numerous, deforming and damaging the kidneys, so that they can no longer function efficiently. Sadly, polycystic kidney disease often leads to kidney failure.

There are two main types of polycystic kidney disease: autosomal dominant PKD which is the most common form, is inherited from one parent and is usually detected during late teens or early adulthood; and autosomal recessive PKD, which is less common, must be inherited from both parents and is typically detected in infancy.

For more information about chronic kidney disease, visit HealthDirect.

Polycystic kidney disease research at Garvan

Early detection and intervention can have a significant impact on patient health outcomes. Because of this, researchers at Garvan have investigated the use of whole genome sequencing to diagnose autosomal dominant PKD in an accurate and cost-effective way. Our researchers are exploring ways to improve diagnostics in inherited kidney disease and to understand the molecular mechanisms responsible for inherited kidney disease.