Congenital hepatic fibrosis.

During 10 years four patients with congenital hepatic fibrosis were seen in a general hospital in London; three presented in adult life. It is suggested that the condition may account for a larger proportion of patients with chronic liver disease than has been thought to be the case.     

先天性肝纤维化一例

患者男,13岁.因间断腹痛,发现肝、脾肿大7个月余,于2009年6月1日入院.腹痛无明显诱因,以脐周为主,与进食无关,便后不缓解.腹部超声:门静脉左支及右支海绵样变性,门静脉主干内径正常,血流流速稍低.腹部CT(图1,2):肝大,门脉海绵样变性,肝内胆管轻度扩张,脾大,双肾多发小囊肿.胃镜:食管静脉曲张.行脾切除、贲门周围血管离断、脾-肾静脉分流、肝活检术.     

Congenital hepatic fibrosis with an unusual pulmonary lesion

The necropsy findings in a 5-year-old girl with congenital hepatic fibrosis are described. She had been followed since the age of 18 months and finally developed hepatocellular failure. Extensive haemorrhagic necrosis was found at necropsy and was probably related to the terminal illness. Other unusual findings were areas of typical post-necrotic cirrhosis and marked centrilobular and diffuse emphysema of the lungs. It is suggested that the latter was also congenital in origin.     

Congenital hepatic fibrosis: asymptomatic adults without renal anomaly

Two cases with the pathologic changes of congenital hepatic fibrosis are described in asymptomatic adults without renal anomaly, Foci of necrosis adjacent to abnormal portal areas suggest that the lesion may not be congenital. It is also suggested that this variant of the disorder may be more common than generally recognized.     

Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency

Congenital hepatic fibrosis is a rare disorder of intrahepatic bile ducts with the persistence of embryological bile duct structures in ductal plate configuration. Three siblings aged 18, 17 and 14 years old were found to have congenital hepatic fibrosis associated with a deficiency of the enzyme phosphomannose isomerase. The clinical symptoms were recurrent attacks of persistent vomiting with diarrhea and mild hepatomegaly. The biochemical abnormalities included elevated serum transferases during attacks, clotting factor deficiencies and persistent hypoalbuminemia. In the youngest patient protein-losing enteropathy was present. Liver biopsies of the three patients taken when they were 1, 3 and 14 years old showed an excess of bile duct structures in ductal plate configuration with mild fibrosis in the portal triads. In one patient the liver biopsy was repeated after 18 years and showed only a mild progression of fibrosis in the portal triads. Duodenal biopsies taken in infancy in two of the three patients did not show any abnormalities. Recognition of phosphomannose isomerase deficiency in association with congenital hepatic fibrosis and protein-losing enteropathy is important, because some of the clinical symptoms are potentially treatable by oral mannose therapy. Received: 19 July 1999 / Accepted: 12 January 2000     

PTEN在肝纤维化大鼠肝组织中的动态表达

目的： 探讨大鼠肝纤维化过程中肝组织PTEN的动态表达。方法: 采用胆总管结扎法建立大鼠肝纤维化模型,HE及Masson三色染色检测肝脏组织学变化,免疫组织化学染色、Western blotting及实时荧光定量PCR技术检测大鼠肝组织的PTEN蛋白及mRNA表达。结果: 大鼠肝纤维化模型成功建立,随着造模时间延长,肝纤维化程度逐渐加重,造模不同时间均可见不同程度的肝细胞变性坏死而导致正常肝细胞逐渐减少;免疫组织化学染色显示正常大鼠肝组织中PTEN广泛表达,主要表达于细胞浆,随着肝纤维化的进展,PTEN阳性表达细胞逐渐减少（P<0.01）;Western blotting及实时荧光定量PCR显示造模1周、2周、3周及4周不同时间大鼠纤维化肝组织中PTEN蛋白及mRNA表达均显著低于假手术组（P<0.01）,并随着肝纤维化的进展逐渐降低（P<0.01）。结论: 大鼠纤维化肝组织中PTEN蛋白及mRNA表达均随着肝纤维化的进展逐渐降低,其下降程度与肝纤维化程度一致。     

肝细胞生长因子和C-met在肝纤维化肝部分切除后残余肝组织中的表达

目的 探讨肝细胞生长因子（HGF）和C-met在纤维化肝部分切除后残余肝组织中的表达变化。方法 雄性SD大鼠130只,随机分为正常组（n=7）、正常肝部分切除组（n=50）、肝纤维化组（n=7）和纤维化肝部分切除组（n=66）。正常肝部分切除组和纤维化肝部分切除组分别在术后12 h、1 d、3 d、5 d、7 d和14 d 取材,运用免疫组织化学和Western blotting方法,检测残肝组织中HGF、C-met的表达。结果 免疫组织化学显示,正常肝部分切除组,HGF表达于术后12 h达高峰,并维持高峰平台,7 d后逐渐降低,于14 d接近术前水平;C-met术后迅速上升,3 d达到高峰,而后逐步下降,14 d降回术前水平。纤维化肝部分切除组,HGF表达于术后迅速下降,12 h又迅速上升,于1 d时达高峰,然后逐步下降,14 d降至最低点;C-met术后迅速下降,12 h开始缓慢下降,于术后3 d达最低点,后缓慢上升,7 d又迅速上升,14 d达最高点。Western blotting显示,HGF、C-met蛋白条带变化规律与免疫组织化学结果吻合。结论 HGF和C-met同时高水平表达有利于肝细胞的分裂增殖,提示HGF和C-met表达不同步,可能是纤维化肝术后再生困难的重要原因。     

Congenital oral cyst with heterotopic gastrointestinal and respiratory mucosa

A congenital oral duplication cyst of the ventral surface of the tongue was found to contain both gastrointestinal and respiratory epithelium. The literature is reviewed, with emphasis on the possible histogenesis of this extremely rare lesion, as well on the clinical differential diagnosis.     

肝纤维化大鼠部分肝切除后肝星状细胞活化和肝细胞生长因子的表达

目的：研究肝星状细胞在肝纤维化大鼠部分肝切除后的活化情况及其对肝细胞生长因子表达和肝再生的影响。方法：成年雄性SD大鼠，随机分成3组：正常组、肝纤维化组和肝纤维化大鼠部分肝切除组。其中肝纤维化大鼠部分肝切除组根据术后取材时间又分为6小组，分别于术后12h、1、3、5、7和14d取材。计算肝指数评价肝再生情况；用免疫组化、免疫荧光和免疫印迹方法检测各组大鼠肝组织中α平滑肌肌动蛋白和肝细胞生长因子的表达情况。结果：肝纤维化大鼠部分肝切除后肝指数逐渐增加，但递增速度缓慢；肝组织中α平滑肌肌动蛋白的表达呈现出先降低后升高的规律；肝细胞生长因子表达早期下降，而后升到一最高值后开始降低。结论：（1）肝纤维化大鼠部分肝切除后残肝可以再生；（2）活化肝星状细胞术后呈现出先减少后增多的规律性变化；（3）肝星状细胞可能是术后肝细胞生长因子表达和残肝再生的重要影响因素。     

Gastric neuroendocrine carcinoma arising from heterotopic pancreatic tissue

An 85 year old man presented with symptoms of dyspepsia and increase in stool frequency of two months duration. Upper endoscopy revealed an ulcer and the biopsy was interpreted as carcinoma with endocrine features. A formal distal gastrectomy was planned, but intraoperatively, because of the patient's condition, a wedge resection was performed. Histology revealed a neuroendocrine tumour (grade 1), located mainly in the submucosa, which had caused mucosal attenuation and ulceration. Associated with the tumour and at its periphery was heterotopic pancreatic tissue composed of acini, ducts, and endocrine cells. The tumour was strongly positive for chromogranin and focally for synaptophysin. There was no associated chronic atrophic gastritis or G cell hyperplasia. A discrete focus of high grade neuroendocrine carcinoma (grade 3) within the typical (grade 1) neuroendocrine tumour was also present. This case illustrates a grade 1 neuroendocrine carcinoma, with a small grade 3 focus, arising within or intimately associated with heterotopic pancreatic tissue in the stomach. Although the two entities may be separate, their close topographical association favours the possibility of neuroendocrine carcinoma arising from the heterotopic pancreas. Pathologists should be aware of the occurrence of pancreatic heterotopia in the stomach and the association of carcinoma with it.     

Anencephaly and heterotopic central nervous tissue in lungs

Heterotopic nodules of moderately well-differentiated central nervous tissue were seen in the lung of a full-term anencephalic baby who survived a few hours after birth. The pathogenesis of this rare condition remains obscure. None of the three hypotheses previously offered to explain this condition can be accepted or rejected on the basis of the recorded evidence.     

血清肝纤维化指标及PAPP指数与肝纤维化的相关性研究

目的探讨血清肝纤四项,即Ⅳ型胶原（C-Ⅳ）、透明质酸（HA）、层黏连蛋白（LN）、Ⅲ型前胶原氨基端肽（PⅢNP）以及PAPP指数,即凝血酶原时间（PT）、血清谷丙转氨酶（ALT）、全血血小板（PLT）计数、血清前白蛋白（PA）与肝纤维化的相关性。 方法选取行肝穿病理活检的不同程度肝纤维化患者80例（慢性肝炎60例、肝硬化20例;〈S0期34例、S1～S2期26例、S3～S4期20例）,分别采集静脉血。采用化学发光法检测血清中C—IV、HA、LN、PIIINP的水平,并分别应用全自动血液凝固仪、全自动生化分析仪和全自动全血细胞分析仪测定血清PAPP指数,分析各血清学指标与肝纤维化的相关性。 结果①各血清学指标水平均随肝纤维化程度的不断加深而升高,并均在S3～S4期达到最高水平,其中〈S0期患者血清HA水平与S1-S2期相比差异有统计学意义（t值为3．357,P〈0．05）;〈S0期患者血清C—IV、HA、LN、PIIINP、PAPP指数水平分别与S3～S4期相比差异均有统计学意义（t值分别为5．270、10．484、4．952、5．382、6．343,均P〈0．05）;S1～S2期患者血清C—IV、HA、LN、PⅢNP、PAPP指数水平分别与s3～S4期相比差异均有统计学意义（t值分别为4．322、6．992、4．393、3．838、4．027,均P〈0．05）;②各血清学指标与肝纤维化程度均呈正相关（r值分别为0．600、0．549、0．599、0．529、0．675,均P〈0．001）;③肝纤四项与PAPP指数的灵敏度（Se）、特异性（sp）、阳性预测值（Pv＋）、阴性预测值（Pv-）形成互补;④慢性肝炎患者血清PAPP指数水平与肝硬化患者相比差异有统计学意义（t值为1177．500,P〈0．001）。 结论肝纤四项与PAPP指数的联合检测有助于肝纤维化的临床诊断与分期以及对抗纤维化的疗效监测。     

瘦素对肝纤维化作用机制的研究

瘦素和肝纤维化的关系越来越引起人们的关注,瘦素和它的功能性受体在肝纤维化的形成中起着重要的作用。然而,其具体作用机制不明,目前存在两种不同观点。免疫系统和有关的细胞因子也参与了瘦素的作用。探求瘦素的作用机制以期为肝纤维化的治疗提供新的途径。     

Campylobacter pylori colonizing heterotopic gastric tissue in the rectum

Campylobacter pylori specifically attaches to gastric epithelial cells and is the etiologic agent for type B gastritis. The authors report the case of a woman with the rare finding of heterotopic gastric mucosa in the rectum that was colonized with C. pylori. Histologic findings of the heterotopic mucosa revealed active chronic gastritis that resolved when C. pylori was eradicated with bismuth subsalicylate and antibiotics. This is the first report of C. pylori in a location distal to the duodenum. The presence of live C. pylori organisms in the rectum suggests that viable organisms are present in the stool and that C. pylori may be spread by the fecal-oral route.     

Transfusional iron overload: the relationship between tissue iron concentration and hepatic fibrosis in thalassaemia.

The interrelationships between liver iron concentration, the duration of iron-loading, and hepatic fibrosis, assessed morphometrically, have been studied in 32 specimens of liver obtained from 19 heavily transfused patients with thalassaemia major whose age ranged from 4 to 19 yr. Similar observations were made in a matched group of thalassaemic patients treated with long-term chelation therapy. The degree of liver damage ranged from very slight increase in fibrous tissue to severe fibrosis and cirrhosis. The severity of the fibrosis was closely correlated both with liver iron concentration and with age. While the relationship between fibrosis and age was linear, both the severity and the rate of fibrosis were exponentially related to liver iron concentration, damage accelerating as liver iron concentration exceeded 3 per cent, dry weight. By producing a modest but significant reduction in liver iron concentration chelation therapy resulted in a disproportionate but predictable retardation in the progression of the fibrosis. The factors affecting the distribution of iron between parenchymal and reticuloendothelial cells were also examined. In general stainable iron was uniformly distributed between parenchymal and reticuloendothelial cells from the early stages of iron-loading. Parenchymal siderosis was relatively heavier in splenectomised patients and in patients with liver iron concentrations above 3 per cent, dry weight than in non-splenectomised patients or patients with liver iron levels of less than 3 per cent, dry weight, but this did not affect the severity of the fibrosis. The relevance of these findings to the traditional concepts of the pathology of transfusional siderosis is discussed.