Polycystic Liver Disease in Autosomal Dominant Polycystic Kidney Disease

Abstract

Liver cysts are a commonly encountered phenomenon and may represent a broad cluster of disorders of diverse etiology. Most cysts are asymptomatic and do not require treatment. Simple cysts are the most prevalent. Polycystic liver disease (PLD) can be diagnosed when more than 20 cysts are detected in the liver. In most cases PLD is associated with autosomal dominant polycystic kidney disease (ADPKD), but it may also occur in the course of other disorders and in an isolated dominantly inherited form. In ADPKD cystogenesis is associated with loss-of-function mutations in PKD1 or PKD2 genes. Isolated autosomal dominant polycystic liver disease (ADPLD) pathogenesis is linked to mutations in PRKCSH and Sec63 genes. PLD results from structural changes in the biliary tree development. Both in ADPKD related PLD and in autosomal dominant polycystic liver disease symptoms usually appear when the cysts are large or numerous enough to significantly increase the liver volume. Most important complications of the disease are: cyst infection, cyst rupture, intracystic hemorrhage and liver failure. Treatment of PLD depends on liver phenotype and symptoms severity. Invasive treatment is needed in patients with advanced PLD and liver failure.