Abstract：
Congenital hepatic fibrosis is a rare autosomal recessive disorder caused by ductal plate malformation that can manifest as hepatic fibrosis alone or as a component in various fibropolycystic diseases including renal involvement. It is often diagnosed early in life, presenting with ascites and esophageal variceal bleeding due to non-cirrhotic portal hypertension. Here, we report a rare case of congenital hepatic fibrosis with portal hypertension diagnosed at an advanced age. A 78-year-old woman with a 6 history of recurrent cholangitis experienced abdominal distension. Imaging revealed ascites and esophageal varices. Histopathologic analysis of the liver revealed the fibrous expansion of portal tracts accompanying increased bile ducts with irregular contours in the portal area. These characteristic findings are consistent with the diagnosis of congenital hepatic fibrosis. The present case showed an extremely unique clinical course, because she did not develop any associated renal abnormalities or any disease-related symptoms until old age. Because of the variability of this disease, the slowly progressive type may be difficult to diagnose and cause non-cirrhotic portal hypertension even in the elderly. Although an unusual clinical course may suggest the presence of the disease, timely histologic assessment is crucial for the definitive diagnosis of congenital hepatic fibrosis.
摘要：
先天性肝纤维化是由导管板畸形引起的罕见常染色体隐性遗传疾病，可单独表现为肝纤维化或作为包括肾脏受累在内的各种纤维多囊性疾病的组成部分。它通常在生命早期被诊断出来，由于非肝硬化门静脉高压症，出现腹水和食管静脉曲张出血。这里,我们报道了一例罕见的先天性肝纤维化伴高龄门静脉高压症。一名78岁的女性，有6例复发性胆管炎病史，出现腹胀。影像学显示腹水和食管静脉曲张。肝脏的组织病理学分析显示，门静脉束的纤维扩张伴随着胆管增加，门静脉区域轮廓不规则。这些特征性发现与先天性肝纤维化的诊断一致。目前的病例显示了一个非常独特的临床过程，因为她直到老年才出现任何相关的肾脏异常或任何疾病相关症状。由于这种疾病的变异性，缓慢进展型可能难以诊断,即使在老年人中也会导致非肝硬化门脉高压.尽管不寻常的临床过程可能表明该疾病的存在，及时的组织学评估对于先天性肝纤维化的明确诊断至关重要.
