Summerfield J A, Nagafuchi Y, Sherlock S, Cadafalch J, Scheuer P J
J Hepatol. 1986;2(2):141-56. doi: 10.1016/s0168-8278(86)80073-3.
The clinical, radiological and hepatic histological features of 51 patients with hepatobiliary fibropolycystic disease were reviewed. Many of the patients had more than one of the diseases; the combination of both congenital hepatic fibrosis (CHF) and Caroli's disease was most striking. Twelve patients with CHF (50% male) presented at 6 +/- 2 years of age (mean +/- SEM) with hepatosplenomegaly or variceal bleeding. Their main problems were recurrent variceal bleeds and renal disease. Polycystic kidneys and renal stones were present in 79% and chronic renal failure in 30%. Six of the 8 patients with Caroli's disease were male (75%) and presented later (aged 37 +/- 8 years) with hepatomegaly or cholangitis. Recurrent cholangitis developed in most (7/8) and 2 had polycystic kidneys. Twelve patients had a combination of CHF and Caroli's disease presenting with hepatosplenomegaly, bleeding or cholangitis. As in Caroli's disease, most (83%) were male, but the age of presentation (15 +/- 4 years), and the incidence of polycystic kidneys (42%) and renal failure (8%) was intermediate between CHF and Caroli's disease. In these patients, bleeds always predated cholangitis. Histologically, acute cholangitis was superimposed on the changes of CHF. Adult polycystic liver disease (10 patients) presented later (43 +/- 3 years) in females (90%) with pain, a mass or incidentally; polycystic kidneys were present in 33%. Microhamartomas (10 patients), which were usually incidental findings, were diagnosed latest (50 +/- 6 years). Three choledochal cysts were seen. The hazard of cancer in these diseases was reflected by 2 bile duct cancers and 1 pancreatic cancer (incidence 6%). This study has confirmed that hepatobiliary fibropolycystic diseases form part of a family and are often associated together. However, the diseases are of greatly differing severity and the prognosis in an individual patient is determined by the fibropolycystic diseases present.
对51例肝胆纤维多囊性疾病患者的临床、放射学和肝脏组织学特征进行了回顾。许多患者患有不止一种疾病；先天性肝纤维化（CHF）和卡罗里病的组合最为显著。12例CHF患者（50%为男性）在6±2岁（平均±标准误）时出现肝脾肿大或静脉曲张出血。他们的主要问题是复发性静脉曲张出血和肾脏疾病。79%的患者有多囊肾和肾结石，30%的患者有慢性肾衰竭。8例卡罗里病患者中有6例为男性（75%），发病较晚（37±8岁），表现为肝肿大或胆管炎。大多数患者（7/8）发生复发性胆管炎，2例有多囊肾。12例患者同时患有CHF和卡罗里病伴有肝脾肿大、出血或胆管炎。与卡罗里病一样，大多数患者（83%）为男性，但发病年龄（15±4岁）、多囊肾发生率（42%）和肾衰竭发生率（8%）介于CHF和卡罗里病之间。在这些患者中，出血总是先于胆管炎出现。组织学上，急性胆管炎叠加在CHF的改变之上。成人多囊肝病（10例患者）发病较晚（43±3岁），女性患者占90%，表现为疼痛、肿块或偶然发现；33%的患者有多囊肾。微错构瘤（10例患者）通常为偶然发现，诊断最晚（50±6岁）。发现3例胆总管囊肿。这些疾病中癌症的风险表现为2例胆管癌和1例胰腺癌（发生率6%）。本研究证实，肝胆纤维多囊性疾病属于一个家族，且常相互关联。然而，这些疾病的严重程度差异很大，个体患者的预后取决于所患的纤维多囊性疾病。
