Acute Medicine | Clinical genetics | Polycystic kidney disease

Polycystic Kidney Disease
Session Overview
Description
This session considers the common clinical problems associated with adult polycystic kidney disease, outlines screening options and offers strategies to prevent further complications of the disease.

Learning Objectives
By the end of this session you will be able to:

• Recognise the common presentations and complications of polycystic kidney disease
• Explain whom to screen, how and when
• Describe the strategies to preserve renal function in the long term

Polycystic kidney disease is the commonest genetic disorder of kidneys and can be inherited as a dominant or recessive trait. The discussion in this session focuses on autosomal dominant polycystic kidney disease (ADPKD).

ADPKD is caused by mutations of either PKD1 or PKD2 genes. Both mutations can cause early onset disease. PKD1 mutations are more common and cause more severe phenotype than PKD2 mutations. Patients with PKD1 mutations develop end stage renal disease (ESRD) earlier than those with PKD2 (54 years versus 74 years).

ADPKD affects all races. The estimated incidence is approximately 1 in every 1000 live births.