Mirza Haris, Besse Whitney, Somlo Stefan, Weinreb Jeffrey, Kenney Barton, Jain Dhanpat
Department of Pathology, Yale School of Medicine, New Haven CT 06520, USA.
Department of Internal Medicine (Section of Nephrology), Yale School of Medicine, New Haven CT 06520, USA.
Hum Pathol. 2023 Feb;132:102-113. doi: 10.1016/j.humpath.2022.06.022. Epub 2022 Jun 28.
A variety of cystic and fibrocystic lesions can occur in the liver, which may be single or multiple and etiologically can be acquired or have genetic underpinnings. Although the morphology of ductal plate development and various associated malformations has been well described, the genetic etiologies of many of these disorders are still poorly understood. Multiple clinical phenotypes in the liver are proposed to originate from ductal plate malformations: congenital hepatic fibrosis, Caroli's disease, Von Meyenburg complex, and the liver cysts of autosomal dominant polycystic kidney and liver diseases. Although many of the patients with these disorders, particularly with isolated liver involvement remain asymptomatic, some develop portal hypertension or symptoms from cyst enlargement. Development of hepatocellular malignancy is a risk in a small subset. Recent advances have made it now possible for some of these phenotypes to be genetically defined, and intriguingly animal models of adult polycystic liver disease suggest that abnormal organ development is not required. This review describes the current understanding, genetic underpinning, and key clinicopathologic and imaging features of these fibropolycystic liver diseases.
肝脏可出现多种囊性和纤维囊性病变，这些病变可能是单发或多发的，病因上既可能是后天获得性的，也可能有遗传基础。尽管导管板发育的形态及各种相关畸形已得到充分描述，但许多此类疾病的遗传病因仍知之甚少。肝脏中的多种临床表型被认为源自导管板畸形，包括先天性肝纤维化、卡罗利病、冯·梅嫩堡复合体以及常染色体显性遗传性多囊肾和肝病中的肝囊肿。尽管患有这些疾病的许多患者，尤其是仅肝脏受累的患者仍无症状，但有些患者会出现门静脉高压或囊肿增大引起的症状。一小部分患者有发生肝细胞恶性肿瘤的风险。最近的进展使得其中一些表型能够从基因层面得以明确，有趣的是，成人多囊肝病的动物模型表明并不需要异常的器官发育。本文综述了这些纤维多囊性肝病的当前认知、遗传基础以及关键的临床病理和影像学特征。
