Kothadia Jiten P., Kreitman Kyle, Shah Jamil M.
University of Tennessee Health Science Center, James D. Eason Transplant Institute
University of Tennessee/Methodist Health
Polycystic liver disease (PLD) is a rare genetic disorder characterized by mutations in genes encoding for proteins involved in the transport of fluid and growth of epithelial cells in the liver (see Polycystic Liver Disease). These mutations lead to the replacement of normal liver tissue with fluid-filled liver cysts. There are two distinct forms of PLD; PLD in isolation and PLD in association with polycystic kidney disease (PKD). The majority of patients with PLD are asymptomatic and diagnosed incidentally on imaging. However, in a small percentage of patients, hepatomegaly can lead to abdominal pain, distension, and compression of adjacent organs, potentially affecting the quality of life. PLD is diagnosable using ultrasonography, computed tomography (CT) scan, or magnetic resonance imaging (MRI). For the patient with symptomatic PLD, the main goal is to decrease liver volume. There are currently several surgical options available, including cyst fenestration, hepatic resection, and liver transplant. There are also medical therapies now under investigation. This activity discusses the diagnosis and management of PLD.
多囊肝病（PLD）是一种罕见的遗传性疾病，其特征是编码参与肝脏液体运输和上皮细胞生长的蛋白质的基因突变（见多囊肝病）。这些突变导致正常肝组织被充满液体的肝囊肿取代。PLD有两种不同的形式：孤立性PLD和与多囊肾病（PKD）相关的PLD。大多数PLD患者无症状，在影像学检查时偶然被诊断出来。然而，在一小部分患者中，肝肿大可导致腹痛、腹胀和对邻近器官的压迫，可能影响生活质量。PLD可通过超声检查、计算机断层扫描（CT）或磁共振成像（MRI）进行诊断。对于有症状的PLD患者，主要目标是减小肝脏体积。目前有几种手术选择，包括囊肿开窗术、肝切除术和肝移植。目前也有一些药物疗法正在研究中。本活动讨论了PLD的诊断和管理。
