Transplant Indications in Polycystic Liver and Kidney Disease

Abstract

Polycystic liver and kidney disease encompasses a spectrum of inherited disorders ,primarily autosomal dominant polycystic kidney disease (ADPKD) and autosomal dominant polycystic liver disease (ADPLD). Although many patients remain asymptomatic for decades, a subset develops debilitating complications, including massive hepatomegaly, recurrent cyst infections, malnutrition, and progressive renal dysfunction. Diagnosis relies on imaging criteria and genetic testing. ADPKD is most commonly associated with PKD1 and PKD2 mutations, whereas ADPLD is associated with PRKCSH and SEC63 mutations. Magnetic resonance imaging provides optimal assessment of cyst distribution, liver volume, and complications. Disease severity classifications, such as Schnelldorfer classification, guide therapeutic decision-making. Liver transplantation is the only definitive treatment for severe symptomatic PLD. Primary indications include recurrent cyst infections refractory to medical therapy, massive hepatomegaly with significant impairment of quality of life, malnutrition, and portal hypertension. Patient-reported instruments, including PLD-Q and POLCA, questionnaires, provide objective measures of symptom burden and aid in transplant candidacy assessment. In patients with concurrent renal insufficiency (estimated glomerular filtration rate <30 mL/min/1.73 m2), combined liver–kidney transplantation may improve outcomes and confer potential immunoprotective benefits for the renal graft. Despite favorable posttransplant outcomes—including 5-year survival rates exceeding 80%—variation in listing criteria persists, highlighting the need for standardized, evidence-based guidelines. Multidisciplinary evaluation and individualized management remain essential to optimize clinical outcomes in this complex patient population.