Metabolic abnormalities in autosomal dominant polycystic kidney disease

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder and is known to affect all ethnic groups with a prevalence of 1:400-1:1000 live births. The kidney in ADKPD is characterized by the formation of numerous cysts which progressively expand and eventually destroy normal kidney structure and function. Cysts occur in other organs outside the kidney, most commonly in the liver, pancreas and spleen. Important non-cystic features include intracranial aneurysms and cardiac valve defects. Less well recognized are a range of metabolic abnormalities, which could be involved in cystic disease progression or be associated with other disease complications. In this review, we summarize the literature suggesting that metabolic abnormalities could be important under-recognised and under-treated features in ADPKD.