Caroli's disease in congenital hepatic fibrosis and infantile polycystic disease

ABSTRACT— Two of three patients with infantile polycystic disease and all three patients with congenital hepatic fibrosis revealed multiple gross cystic dilatation of the intrahepatic biliary tree, referred to as Caroli's disease. All three patients with congenital hepatic fibrosis showed recurrent cholangitis related to coexisting Caroli's disease, and two of them died of sepsis following cholangitis. There were several common morphologic findings in the intrahepatic biliary tree of macroscopic and microscopic levels in infantile polycystic disease and congenital hepatic fibrosis with Caroli's disease: 1. irregular, non-obstructive dilatation of the duct lumen; 2. bulbar protrusion of the duct wall into the lumen; and 3. bridge formation of the duct wall across the lumen. These ductal changes might be caused by a combination of uneven and disproportionate overgrowth of biliary epithelia and their supporting connective tissue. This pathogenetic mechanism might be operative along the entire intrahepatic biliary system in this disease group, and involvement of the smaller levels in early life might result in infantile polycystic disease and congenital hepatic fibrosis and simultaneous or possibly later involvement of the larger levels in Caroli's disease.     

先天性肝纤维化14例临床病理特点

目的总结先天性肝纤维化的临床特点,描述先天性肝纤维化时产生门静脉高压的病理形态学特点。方法回顾性分析2000年～2009年9月,北京友谊医院门诊及住院诊断为先天性肝纤维化患者的临床特点,对活检肝组织标本进行特殊染色及免疫组织化学染色。结果先天性肝纤维化14例,男女比例1.33：1,平均年龄（14.78±8.52）岁,临床主要表现为门脉高压症型占57.1%,胆管炎型占14.29%,混合型占7.14%。肝脾肿大为最主要的体征占85.7%。常见的合并症为多囊肾和肝内胆管扩张,即Caroli’s病各占14.28%。病理形态学观察提示先天性肝纤维化导致门脉高压的机制包括：门静脉发育不良,门脉数量减少,纤维间隔挤压门静脉。结论先天性肝纤维化是导致非肝硬化性门脉高压症的常见原因之一,掌握其临床及病理特点,有助于提高诊治水平。     

Solitary fibrous liver tumor: clinical, radiological and pathological characteristics

A solitary fibrous liver tumor is a rare disease which is difficult to diagnose. Radiological findings are not specific, and cannot confirm benignity or malignancy. Treatment most often involves a major hepatic resection. A precise diagnosis is made by pathological examination, mainly immunohistochemistry with positive results for anti CD34 and anti vimentin antibodies. Prognosis is directly correlated to the presence of malignant histoprognostic features, i.e. the number of mitoses. We report a case of a benign solitary fibrous liver tumor, which presented as a voluminous hepatic mass with few symptoms and was treated successfully by radical hepatic resection.     

Polycystic liver: clinical characteristics of patients with isolated polycystic liver disease compared with patients with polycystic liver and autosomal dominant polycystic kidney disease

Aim: The goal of this study was to compare the clinical features of patients with isolated polycystic liver disease (PCLD) with those of patients with polycystic liver and autosomal dominant polycystic kidney disease (ADPKD). Methods: Cases were identified from clinical records at the University of Colorado Hospital in Denver (USA) and at the Radboud University Hospital in Nijmegen (the Netherlands) by ICD‐10 codes. To be included in this analysis, patients had to have an initial diagnosis of PCLD within six years of presentation to our clinics. Medical records were reviewed for demographic information, medical history, physical examination, symptoms, complications, laboratory and imaging results, therapy and outcomes. Results: Out of a total of 94, 53 patients met our criteria for entering this study, 19 with PCLD and 34 with ADPKD. The mean time interval from diagnosis of PCLD to presentation in our clinics was 1.21 years for PCLD and 2.76 years for ADPKD (P=NS). PCLD was associated with female gender in both PCLD and ADPKD. Patients with PCLD had greater numbers (P=0.031), and larger sizes of liver cysts (P=0.0051), but had less associated morbidities than patients with ADPKD. Liver cyst decompressions were performed more frequently in PCLD patients (57.9 vs. 23.5%, P=0.012). However, serious hepatic complications, sufficient to require consideration of liver transplantation, were more frequent in patients with ADPKD (0/19 vs. 6/34, P<0.0001). Conclusions: Although PCLD in patients with PCLD is characterized by larger and greater number of hepatic cysts, the clinical course is relatively benign compared with ADPKD.     

Multihormonal bilateral petrosal sinus sampling in Cushing's disease: radiological, surgical and pathological correlations

Multihormonal bilateral petrosal sinus sampling (BPSS) has been proposed to improve corticotroph microadenomas prediction of lateralisation. Few series have simultaneously compared data of pituitary MRI, surgical findings and multihormonal BPSS. Seven patients (6F/1M) with Cushing's disease, mean age at diagnosis of 35 years (range 24-55) were prospectively studied to compare radiological and multihormonal BPSS data with surgical and pathological findings. In untreated patients, simultaneous measures of ACTH, TSH and prolactine (PRL) were done at time 0, 7, 15, 22 minutes after CRH (500 microgram) and TRH (200 microgram) stimulation. An intersinus gradient of 1.4 was considered as a lateralisation. All microadenomas were identified during surgery, diameters ranged from 2 to 7 mm. All patients were in long-term surgical remission. Pathological studies confirmed a tumoral tissue with ACTH immunostaining in 6/7 cases and PRL in 3/7 cases. Pituitary MRI correctly identified tumors in 4 cases, the remaining tumors were not seen. Basal and stimulated intersinus gradients of ACTH, TSH and PRL were homolateral in 6/7 cases and were coincident with surgical findings in 4/7 cases. The other three cases were contralateral to MRI and surgical data. In conclusion, simultaneous gradient of ACTH, PRL and TSH did not improve lateralisation prediction in this series. Hormonal hypersecretion was homolateral in six cases whereas pathological studies demonstrated a mixed secretion in only three cases. A preferential pituitary draining could explain these discordances. Data from our series and from others (done with CRH stimulation and ACTH-PRL measures) strongly suggest a paracrine interaction between tumoral and normal pituitary tissue.     

Congenital hepatic fibrosis with congenital heart disease. A family study with ultrastructural features of the liver.

A family with congenital hepatic fibrosis (CHF) and congenital heart disease (CHD) is presented. The consanguineous healthy parents gave birth to 12 children of whom 10 survived. One son had CHF and CHD, one daughter had CHF and a second daughter had CHD. Three other siblings probably had small a ventricular septal defect and another one probably had mild pulmonary valve stenosis. Development of portal hypertension and hypersplenism necessitated performing shunt operation on both siblings suffering from congenital hepatic fibrosis. Ultrastructural findings were giant mitochondria with large laminar inclusions in hepatocytes, and excess of villi and whorls of membranes and collagen fibrils between hepatocytes.     

13例先天性肝纤维化的临床表现与病理特征分析

目的总结先天性肝纤维化(CHF)的临床表现及组织病理学特征,以提高临床诊治经验。方法回顾性分析2011年1月-2015年6月第四军医大学第一附属医院收治的经组织病理学明确诊断的CHF患者13例,统计患者年龄、临床表现、实验室指标和影像学表现等临床资料。结果 13例患者中,门静脉高压型8例、胆管炎型1例、混合型1例、隐匿型1例,影像学检查提示8例存在肝肾囊肿,4例合并门静脉海绵样变性。结论 CHF患者以门静脉高压和肝功能正常为突出表现,常伴发肝肾囊肿、Caroli病。对于不明原因肝硬化,特别是肝功能减退与门静脉高压不相符的患者,应行肝活组织检查协助诊断。     

FibroScan评估酒精性肝病肝纤维化程度的诊断价值

目的探讨瞬时弹性成像技术(FibroScan)在评估酒精性肝病肝纤维化程度中的应用价值。方法对60例酒精性肝病患者采用FibroScan测量肝脏硬度,获得FibroScan弹性值(FS值),同时对患者进行肝活组织检查.以病理结果为金标准,分析FS值与酒精性肝纤维化分期的相关性。用受试者工作特征(receiver operatmg charateristic,R()C)曲线评估FibroScan对酒精性肝病的诊断价值。结果酒精性肝病患者肝纤维化分期S0~S4的FS值分别为S0:(5.31±1.06)kPa、S1:(7.91±2.81)kPa、S2:(9.81±3.39)kPa、S3:(14.66±4.31)kPa、S4:(19.81±6.02)kPa。组间差异有统计学意义(P0.(5)。进一步分析显示FS值与肝纤维化分期呈正相关性(r=0.706,P0.05)。肝纤维化程度≥S1、≥S2、≥S3和S4的ROC曲线下面积分别为0.833、0.871、0.906和0.919。结论 Fibroscan作为一种无创技术,能够较准确地定量评估酒精性肝病肝纤维化程度。     

Spontaneous bacterial peritonitis in a patient with congenital hepatic fibrosis and Caroli's disease

The authors describe by the first time in the literature a patient with congenital hepatic fibrosis and Caroli's disease complicated by spontaneous bacterial peritonitis. The possible routes of ascitic infection are discussed.     

先天性肝纤维化和Carolis综合征的临床特征比较

目的探讨先天性肝纤维化(CHF)患者和Caroli综合征(CS)患者的临床、影像表现及生化学特点。方法回顾性分析CHF组63例和CS组31例患者的临床资料,并进行临床、影像表现与生化特点比较。结果 CHF组63例中发热3例、脾大28例、肝大12例、腹水19例、胸水1例、门静脉海绵样变1例、上消化道出血和黑便22例、肝囊肿3例、肾囊肿10例。RBC、Hb轻度下降,ALT、AST、ALP、GGT轻度升高。CS组31中发热10例、脾大21例、肝大13例、腹水16例、胸水7例、门静脉海绵样变5例、上消化道出血和黑便10例、肝囊肿7例、肾囊肿11例。WBC、RBC、Hb、HCT下降,AST、ALP、GGT出现轻度升高。两组在发热、脾大、肝大、肾囊肿、肝囊肿、腹水、胸水、门静脉海绵样变方面,差异有统计学意义(P0.05);RBC、Hb和HCT在CS组中下降更明显,与CHF组相比,差异有统计学意义(P0.05),且RBC、Hb、HCT下降与上消化道出血呈正相关性。PAL两组比较,差异有统计学意义(P0.05)。结论 CHF和CS患者在临床表现和生化检查方面有许多相似性,但CS患者更易合并门脉高压症、肝囊肿和肾囊肿。     

The global impact of hepatic fibrosis and end-stage liver disease

Hepatic fibrosis is an integral part in the progression of chronic liver disease, ultimately leading to cirrhosis and hepatocellular carcinoma. Globally, alcohol consumption, hepatitis B (HBV) and hepatitis C (HCV) have been the main causes of cirrhosis. More recently, the increasing prevalence of obesity and the metabolic syndrome has resulted in increasing incidence of cirrhosis secondary to nonalcoholic fatty liver disease (NAFLD), especially in developed countries. Chronic liver disease and cirrhosis are important causes of morbidity and mortality in the world. Moreover, the burden of chronic liver disease is projected to increase, due in part to the increasing prevalence of end-stage liver disease and HCC secondary to NAFLD and HCV.     

Nonalcoholic fatty liver disease and hepatic cirrhosis: comparison with viral hepatitis-associated steatosis

Nonalcoholic fatty liver disease(NAFLD) including nonalcoholic steatohepatitis(NASH) is globally increasing and has become a world-wide health problem. Chronic infection with hepatitis B virus or hepatitis C virus(HCV) is associated with hepatic steatosis. Viral hepatitis-associated hepatic steatosis is often caused by metabolic syndrome including obesity,type 2 diabetes mellitus and/or dyslipidemia. It has been reported that HCV genotype 3 exerts direct metabolic effects that lead to hepatic steatosis. In this review,the differences between NAFLD/NASH and viral hepatitis-associated steatosis are discussed.     

Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases

Background and aim: Isolated polycystic liver disease (PCLD) is characterized by the presence of multiple cysts in the liver in the absence of polycystic kidneys. The clinical profile of PCLD is poorly defined and we set up a study for the clinical characteristics of PCLD. Methods: We collected clinical data on 188 PCLD patients (defined as >10 liver cysts) from five tertiary referral centres, and 137 patients were selected for the purpose of this study. We performed molecular analysis of the PCLD associated genes PRKCSH and SEC63 in 91 patients. Results: A total of 118 (86%) patients were female. The majority of patients (88%) had >20 cysts. The median age at diagnosis was 47 years (range 23–84). 37 (41%) patients carried a mutation. Clinical symptoms at presentation were present in 111 (84%) patients. γ‐glutamyl transferase was elevated to 1.4 times upper limit of normal (interquartile range 1.0–2.7). The presence of a mutation and female gender predicted a more severe course: female patients were 9 years younger at the time of diagnosis (47 years; range 23–84) and 91% had symptoms (P<0.01); likewise, mutation carriers were younger at presentation (39 years; range 35–48) and 95% of this cohort had symptoms (P<0.01). During follow‐up [median 8.2 years (range 0–35)], 10% of untreated and 51% of treated patients developed complications. Mortality in this cohort was 8%, but only 2% died of PCLD‐related causes. 58% of patients were treated a median of 2 years (range 0–25) after diagnosis. Conclusion: Symptomatic PCLD patients are mainly females. Females and mutation carriers were younger at diagnosis and had a more severe course of disease.