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Abstract：
Congenital hepatic fibrosis (CHF) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts. It is one of the fibropolycystic diseases, which also include Caroli disease, autosomal dominant polycystic kidney disease, and autosomal recessive polycystic kidney disease. Clinically it is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. CHF is known to occur in association with a range of both inherited and non-inherited disorders, with multiorgan involvement, as a result of ductal plate malformation. Because of the similarities in the clinical picture, it is necessary to differentiate CHF from idiopathic portal hypertension and early liver cirrhosis, for which a liver biopsy is essential. Radiological tests are important for recognizing involvement of other organ systems. With regards to our experience at Hacettepe University, a total of 26 patients have been diagnosed and followed-up between 1974 and 2009 with a diagnosis of CHF. Presentation with Caroli syndrome was the most common diagnosis, with all such patients presenting with symptoms of recurrent cholangitis and symptoms related to portal hypertension. Although portal fibrosis is known to contribute to the ensuing portal hypertension, it is our belief that portal vein cavernous transformation also plays an important role in its pathogenesis. In all patients with CHF portal vein morphology should be evaluated by all means since portal vein involvement results in more severe and complicated portal hypertension. Other associations include the Joubert and Bardet-Biedl syndromes.
摘要：
先天性肝纤维化（CHF）是一种常染色体隐性遗传畸形，在病理上由不同程度的门静脉周围纤维化和不规则形状的胆管增生定义。它是纤维多囊性疾病之一，也包括Caroli病,常染色体显性多囊肾病,常染色体隐性遗传性多囊肾病。临床上它的特点是肝纤维化，门静脉高压症,和肾囊性疾病。已知CHF与一系列遗传性和非遗传性疾病有关。多器官受累，导管板畸形的结果.由于临床表现的相似性，有必要将CHF与特发性门脉高压和早期肝硬化区分开来，肝活检是必不可少的。放射学测试对于识别其他器官系统的参与很重要。关于我们在Hacettepe大学的经验，在1974年至2009年间,共有26例患者被诊断为CHF并接受随访.Caroli综合征是最常见的诊断，所有这些患者都有复发性胆管炎的症状和与门静脉高压相关的症状。尽管已知门静脉纤维化会导致随后的门静脉高压，我们认为门静脉海绵样变性在其发病机制中也起着重要作用。在所有CHF患者中，应通过各种方式评估门静脉形态，因为门静脉受累会导致更严重和更复杂的门静脉高压。其他协会包括Joubert和Bardet-Biedl综合征。
