PubMed2026
BACKGROUND: Polycystic liver disease is a genetic pathology characterized by the formation of numerous cysts in the liver. This case is notable for the rare presentation of isolated polycystic liver disease leading to secondary obstructive uropathy. Unlike the more common association with autosomal dominant polycystic kidney disease, this patient exhibited no evidence of bilateral polycystic kidney disease; the only renal finding was a solitary simple cyst in the contralateral kidney, considered an incidental finding, highlighting an unusual extrinsic mechanism of urinary tract obstruction due to massive hepatomegaly. In adults, polycystic liver disease often manifests as an extra-renal complication of autosomal dominant polycystic kidney disease. In rare cases, however, it may present solely as autosomal dominant polycystic liver disease without renal involvement. CASE PRESENTATION: In this study, we describe a patient with isolated polycystic liver disease, in whom marked hepatomegaly progressively compressed and displaced the kidney, obstructing the ureter at the pyeloureteral junction. Imaging studies, including abdominal ultrasound and computed tomography, confirmed the extent of cystic involvement and the resulting mass effect. This led to the gradual development of severe hydronephrosis, evident both on palpation and during clinical examination of the abdomen. Hydronephrosis, in turn, exerted pressure on adjacent organs such as the liver, pancreas, stomach, and large vessels, causing symptoms including abdominal distension, dysphagia, gastroesophageal reflux, early satiety, reduced mobility, as well as abdominal and lumbar pain. CONCLUSION: Clinicians should consider the possibility of mass effect complications in patients with isolated polycystic liver disease, as early recognition and intervention may help prevent severe secondary organ dysfunction.