Massive liver involvement in autosomal dominant polycystic kidney disease

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease with an estimated prevalence of between 1/400 and 1/1000 [1]. The PKD1 genetic mutation, encoding polycystin-1, is found in 80% of cases, while 20% of patients carry the PKD2 mutation, encoding polycystin-2. Liver involvement is the most common extrarenal manifestation, occurring in over 50% of cases of hepato-renal polycystosis the most frequent extrarenal manifestation in autosomal-dominant polycystic kidney disease (ADPKD). Liver cysts are responsible for most hepatic complications. A 40-year-old female presented on 13st April 2013 to the Nephrology Unit of Fundeni Clinical Institute with abdominal distension and renal dysfunction. ADPKD had been diagnosed 5 years previously and had progressed to end-stage renal disease, treated by hemodialysis, in May 2014. Her medical history included well controlled hypertension and hyperlipidemia. The family history included ADPKD affected relatives. Conclusion. Because early complications and mortality after either procedure remain frequent, the hazards of surgery have to be balanced against benefits; therefore, selection of the optimum therapy still remains a challenge.

Keywords

• polycystic kidney disease
• hepatic fibrosis
• cysts
• transplantation