Liver transplantation in autosomal dominant polycystic disease with renal and hepatic involvement

Case report

Abstract

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder, characterized by the progressive growth of cysts. Polycystic liver disease (PLD) is its most frequent extra-renal manifestation. Although liver function is usually preserved, massive organ enlargement causes severe compressive symptoms that significantly impair quality of life.

Materials and Methods: We describe the clinical case of a 44-year-old female patient with ADPKD and severe hepatic involvement, treated at Bonsucesso Hospital in Rio de Janeiro, Brazil. Clinical management, imaging findings (abdominal CT), and post-transplant outcomes were analyzed, complemented by a review of the Gigot and Schnelldorfer classifications to determine disease severity and therapeutic approach.

Results: The patient presented with early satiety, gastroesophageal reflux, and a 10 kg weight loss, while maintaining normal renal and hepatic function (GFR 94 mL/min/1.73 m²). CT imaging revealed massive hepatomegaly and enlarged kidneys (Mayo Classification 1C) causing compression of adjacent organs. She underwent deceased-donor liver transplantation using MELD exception criteria (initial score of 20). The explanted liver weighed 4,440 g. Following the procedure, the patient experienced complete resolution of compressive symptoms and maintained renal stability (post-transplant GFR 113 mL/min/1.73 m²) while on immunosuppression with tacrolimus and mycophenolate.

Conclusions: Liver transplantation is the only curative treatment for severe PLD with refractory symptoms. Early diagnosis is vital for considering timely therapeutic options, and transplantation is an effective intervention for restoring patient well-being, even when biochemical organ function remains preserved.