International Journal of Molecular Medical Science, 2025, Vol.15, No.1, 33-41 http://medscipublisher.com/index.php/ijmms 38 liver volume exceeding 4 000 mL. Genetic analysis identified a nonsense mutation in PKD1, correlating with the severity of her disease (Figure 2) (Miura et al., 2022). Figure 2 Surgical findings (Adoptrd from Miura et al., 2022) Image caption: (a) Multiple hepatic cysts occupy the upper abdominal cavity. Extrahepatic cysts compress the stomach (yellow arrowheads); (b) Intracystic bleeding scars are present.Intraoperative cytological analysis of the cyst content was negative for malignancy (red arrows); (c) Abdominal cavity after cystectomy and hepatectomy (Adoptrd from Miura et al., 2022) Initial management involved conservative measures, including dietary modifications and monitoring, but her symptoms persisted. Pharmacological intervention with lanreotide, a somatostatin analogue, achieved an 18% reduction in liver volume over six months. Despite this improvement, the patient experienced recurrent compressive symptoms due to cyst enlargement. She underwent surgical fenestration, which provided significant symptom relief. Postoperative follow-up revealed sustained improvement in quality of life, though minor recurrence of cysts was observed after two years. This case illustrates the challenges of managing liver cysts in ADPKD patients, particularly those with significant genetic mutations that predispose to severe disease. It underscores the importance of combining genetic analysis with tailored therapeutic strategies, ranging from pharmacological agents to surgical interventions, to optimize outcomes for such patients. 6.2 Isolated polycystic liver disease cases Isolated Polycystic Liver Disease (PCLD) represents a distinct subset of cystic liver disorders, characterized by hepatic cysts without significant renal involvement. A notable case involved a 50-year-old male presenting with progressive abdominal discomfort and early satiety. Imaging studies identified multiple hepatic cysts, with the largest measuring 10 cm in diameter. Unlike ADPKD-associated cysts, these lesions were not accompanied by renal abnormalities. Genetic testing revealed a pathogenic mutation in PRKCSH, a gene encoding hepatocystin, a protein essential for Endoplasmic Reticulum (ER) function and glycoprotein folding (Yu et al., 2022). Management focused on addressing the dominant symptomatic cysts. The patient underwent percutaneous sclerotherapy, during which the fluid content of the largest cysts was aspirated and a sclerosing agent was instilled. This procedure resulted in significant symptom relief, and follow-up imaging demonstrated sustained resolution of the treated cysts with no recurrence. The remaining smaller cysts were asymptomatic and managed conservatively (Furumaya et al., 2020). This case highlights the value of minimally invasive procedures in managing PCLD, particularly for patients with a few dominant symptomatic cysts. It also underscores the role of genetic testing in confirming diagnoses and tailoring treatment plans. As PCLD is genetically distinct from ADPKD, a personalized approach to management, focusing on localized cyst control, is often sufficient for improving patient outcomes (Generali et al., 2023). 6.3 Genetic variants and clinical manifestations The variability in the clinical presentation of liver cysts often stems from genetic heterogeneity. A comprehensive study of a family with Autosomal Dominant Polycystic Liver Disease (ADPLD) sheds light on the interaction between specific genetic mutations and clinical manifestations. In this family, a novel PKD2 mutation (p.Ile424Ser) was identified in multiple members. Phenotypes ranged from severe hepatomegaly with
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