Dubin-Johnson综合征2例报道并文献复习

<正>Dubin-Johnson综合征(DJS)是肝细胞分泌入胆汁的双亲阴离子轭合物遗传缺陷的一种常染色体隐性遗传性疾病。DJS在1954年由Dubin和Johnson等先后报道,因临床较少见,且易与病毒性肝炎相混淆而     

Dubin-Johnson综合征合并慢性乙型肝炎患者脂褐素小体的超微结构特点

目的 研究Dubin-Johnson综合征合并慢性乙型肝炎患者肝细胞脂褐素小体的超微结构特点.方法用透射电子显微镜(简称电镜)对11例Dubin-Johnson综合征合并慢性乙型肝炎(轻度)患者、5例Dubin-Johnson综合征患者的肝细胞超微结构进行观察,重点观察脂褐素小体的形态及密度.对数据的统计学分析采用Fisher's精确概率法.结果 11例Dubin-Johnson综合征合并慢性乙型肝炎(轻度)患者的肝细胞脂褐素小体形态呈现多形性,电镜下至少有5种形态:"明亮型"(18.2%,2/11)、"网眼型"(9.1%,1/11)、"点状型"(54.5%,6/11)、"不规则型"(9.1%,1/11)和"基本型"(9.1%,1/11);而未合并慢性乙型肝炎的Dubin-Johnson综合征患者的肝细胞脂褐素小体形态相对较为单一,为"基本型"(100.0%,5/5)."基本型"的差异在两组间比较,P=0.0013.两组患者脂褐素小体的密度也不均等,合并慢性乙型肝炎(轻度)患者的肝细胞脂褐素小体密度低,未合并慢性乙型肝炎(轻度)的Dubin-Johnson综合征患者肝细胞脂褐素小体密度高.结论 Dubin-Johnson综合征合并慢性乙型肝炎(轻度)患者肝细胞脂褐素小体形态呈现多形性,含高电子密度物质的比例少;而Dubin-Johnson综合征患者的肝细胞脂褐素小体形态相对较为单一,以色素沉着较重的"基本型"为主,含高电子密度物质的比例多.二者的差别在诊断上可能有一定价值.

Abstract：

Objective To explore characteristics of the myelin-like bodies in the hepatocytes of patients with Dubin-Johnson syndrome (DJS) complicated with chronic hepatitis B (CHB). Methods 11 cases of DJS complicated with CHB and 5 cases DJS without CHB were studied clinicopathologically. The hepatocyte ultrastructure was observed with transmission electron microscope and taken photos. The data were compared and analyzed using Fisher's Exact Test. Results Deposition of myelin-like bodies can be observed in the hepatocytes of DJS patients with CHB but can not in DJS patients without CHB. The morphology of pigment varys. The electron density and volume of pigment in DJS patients with CHB can be classified into five types: brights (2/11,18.2%), reticulation (1/11, 9.1%), punctiform (6/11, 54.5%), abnormiry (1 / 11, 9.1%) and primary type (1 / 11, 9.1%). The myelin-like bodies in the hepatocytes of patients with DJS are high density and round with membrance (we named it as primary type) (5/5, 100%). Conclusions The myelin-like bodies in the hepatocytes of DJS patients with CHB possess special pleomorphism and may have important diagnostic value.     

Dubin-Johnson综合征11例临床分析

从1963年2月至1985年4月我院收治Dubin-Johnson综合征(DJS)11例,在院外有较长时间的误诊,为总结经验,故分析讨论如下.临床资科一、DJS11例均为男战士,年龄19~25岁,维吾尔族1例,汉族10例.主要症状、体征、实验室检查、肝组织活检见附表.此外,蛋白电泳γ均≤     

Dubin-Johnson syndrome with systemic lupus erythematosus: a case report

Introduction Dubin-Johnson syndrome (DJS) is a rare recessively inherited conjugated hyperbilirubi- nemia caused by deficiency of the canalicular multi-drug resistance/multi-specific organic anionic transporter protein (MDR2/cMOAT). Thus bilirubin is conjugated but inefficiently secreted into bile, which results in accumulation of conjugated and, to some extent, unconjugated bilirubin in blood, leading to hyperbilirubinemia and bilirubinuria. But, the results of liver function tests are no…     

Dubin-Johnson综合征临床及病理特征

目的探讨Dubin-Johnson综合征(DJS)的临床及病理特点。方法分析解放军第三○二医院2006年1月至2016年4月收治的21例DJS患者的临床资料,回顾性分析患者的临床及病理资料。结果男17例,女4例,平均年龄(28.7±8.1)岁,平均TBil(59.2±11.1)μmol/L;平均DBil(40.9±9.3)μmol/L,肝穿病理组织肉眼可见呈黑色、灰褐色、黄绿色、灰黑色等黑肝表现。光镜下主要病理改变:肝细胞内大量较粗大的深棕色颗粒沉积,以中央静脉周围为著,少数肝细胞水样变性,窦周炎不明显,汇管区无或轻度扩大,少量炎细胞浸润,未见明确界面炎。结论 DJS多发于男性,以青少年期发病为主,升高以DBil升高为主,肝穿病理检查为确诊DJS主要手段,黑肝表现及镜下深棕色颗粒沉积为其特异性病理特征。     

Dubin-Johnson综合征的临床特点分析

Dubin-Johnson综合征（DJS）是一种少见的常染色体隐性遗传病,是由于毛细胆管上特异性有机阴离子转运蛋白基因缺陷,导致结合胆红素排泄障碍,血液中结合胆红素升高,黑色色素在肝细胞内沉着,大体表现为黑肝。该疾病预后良好,不需特殊治疗,但容易被误诊导致患者反复就诊治疗,承担不必要的精神和经济负担。近年来有报道本病可合并多种疾病,诊断较困难,从而对持续性黄疸难以解释,并且患者可在中老年时期就诊,而不是在青少年好发时期,容易遗漏该疾病导致误诊。本文对DJS的发病机制、临床特点及近年来的诊断方法等作一综述。     

Dubin-Johnson综合征七例和Rotor综合征二例的临床分析

ubin Johnson综合征 (DJS)和Rotor综合征 (RS)属先天性非溶血性黄疸 ,均为常染色体隐性遗传性疾病 ,临床上以慢性持续或间歇性黄疸为主要特征。因临床病例少见 ,两个综合征之间临床表现相似 ,且常易与其他肝病相混淆 ,故将我院 1997～ 2 0 0 3年 9例确诊病例的临床资料进行总结 ,报道如下。资料与方法一、病例选择病例均为 1997年 1月至 2 0 0 3年 12月在我院住院患者 ,符合DJS和RS的诊断标准 ,排除合并肝炎病毒指标阳性者。二、DJS和RS的诊断符合以下标准[1] :(1)慢性持续或间歇性黄疸 ;(2 )实验室生化检查 :非溶血性结合胆红素升高…     

Ultrastructure of Kupffer cells and hepatocytes in the Dubin-Johnson syndrome： A case report

Ultrastructure of Kupffer cells and hepatocytes in liverbioptate was evaluated in a 17-year-old boy with Dubin-Johnson syndrome(DJS).The liver tissue obtainedby needle biopsy was fixed in glutaraldehyde andparaformaldehyde and routinely processed for electronmicroscopic analysis.The ultrastructural examinations ofliver bioptate revealed the accumulation of membrane-bound,electron-dense lysosomal granules within thecytoplasm of hepatocytes,characteristic of DJS.Theywere located mainly in the vicinity of the biliary pole,andpreferentially in the centrilobular region that correspondedto the pigment deposits seen under light microscope.Thepresence of the granules was accompanied by dilatedelements of the granular endoplasmic reticulum andparacrystalline mitochondrial inclusions as well as dilationof the bile canaliculi.The changes in hepatocytes co-existed with marked stimulation and enhanced phagocyticactivity of Kupffer cells.This was manifested in theaccumulation of pigment deposits within their cytoplasmthat corresponded to those observed in hepatocytes.Hyperactive pericentral Kupffer cells which are involvedin the response to pigmentary material originating fromdisintegrated hepatocytes may play an essential role inthe development of DJS.     

Dubin-Johnson综合征3例报告

Dubin-Johnson综合征是一种常染色体隐性遗传性疾病．因临床较少见，且胆红素反复升高，易与慢性病毒性肝炎相混淆而被长期误诊。现将我院肝脏穿刺活检病理诊断的3例报告如下。     

我国三种按蚊的染色体研究

本文对我国新疆地区的疟疾媒介米赛按蚊(An.messeae)、赫坎按蚊(An.hyrcanus)以及实验室传代的上海地区中华按蚊(An.sinensis)的唾腺多线染色体、脑有丝分裂染色体核型和G带进行了研究。绘制了多线染色体和G带模式图,并进行了详细描述。用IBAS-2图象分析仪精确地测量了染色体长度,描记了G带带型曲线。 多线染色体研究:一、米赛按蚊存在着四类多态性臂内倒位:(一)2R的杂合子性倒位(7C-12C),频率为1％;(二)3R的杂合子性倒位(24A—26C),频率为     

胰岛素瘤的解剖分布特点分析

目的胰岛素瘤是最常见的胰腺神经内分泌肿瘤，因其临床表现多样，导致诊断困难。影像学诊断尤其是超声内镜(EUS)在胰岛素瘤的诊断中起着重要作用，拥有较高的敏感性和特异性。本研究拟通过明确胰岛素瘤的解剖分布特点，以期有助于提高影像学的诊断准确率和降低漏诊率，尤其是在教育和培训实践中对于EUS的学习者更具有指导价值。 方法回顾性分析解放军总医院第一医学中心病案资料数据库1993年1月至2019年11月经外科手术、病理确诊为胰岛素瘤的患者的临床资料，检索方法采取搜索术后病理诊断为"胰岛素瘤"的病例，通过查阅病例的方法，提取出胰岛素瘤的大小和解剖分布等数据，进一步分析其特点。 结果共检索到确诊为胰岛素瘤的患者116例，其中，男45例、女71例，年龄13～76岁，平均年龄(44.4±14.85)岁。胰岛素瘤单发110例(94.8%)、多发6例(5.2%)。位置分布：头颈部46例(39.7%)，单发45例、多发1例；体尾部68例(58.6%)，单发65例、多发3例；全胰腺多发2例(1.7%)。病变大小特点：最大径0.4～3.4 cm，平均大小(1.53±0.58)cm。≤1 cm 29例、>1 cm而≤1.5 cm41例、>1.5 cm而≤2.0 cm28例，≤3 cm 15例，>3 cm 3例。年龄与肿瘤的大小相关，≤44岁患者肿瘤平均大小为(1.36±0.51)cm、>44岁患者肿瘤平均大小为(1.70±0.60)cm，P<0.05。头颈部的肿瘤大于体尾部的肿瘤，头颈部肿瘤平均大小(1.66±0.63)cm，体尾部(1.42±0.52)cm，P<0.05。 结论胰岛素瘤在胰腺体尾部较头颈部更好发；绝大多数单发，但可以全胰腺多发；多数小于1.5 cm，肿瘤的大小与患者年龄和肿瘤的解剖分布相关。     

Pathogenesis of carcinoma of the papilla of Vater

Most adenomas and carcinomas of the small intestine and extrahepatic bile ducts arise in the region of the papilla of Vater. In familial adenomatous polyposis (FAP) it is the main location for carcinomas after proctocolectomy. In many cases symptoms due to stenosis lead to diagnosis at an early tumor stage. In about 80%, curative intended resection is possible. Operability is the most relevant prognostic factor. Most ampullary carcinomas resp. carcinomas of the papilla of Vater develop from adenomatous or flat dysplastic precursor lesions. They can be sited in the ampulloduodenal part of the papilla of Vater, which is lined by intestinal mucosa. They also can develop in deeper parts of the ampulla, which are lined by pancreaticobiliary duct mucosa. Intestinal-type adenocarcinoma and pancreaticobiliary-type adenocarcinoma represent the main histological types of ampullary carcinoma. Furthermore, there exist unusual types and undifferentiated carcinomas. Many carcinomas of intestinal type express the immunohistochemical marker profile of intestinal mucosa (keratin 7?, keratin 20+, MUC2+). Carcinomas of pancreaticobiliary type usually show the immunohistochemical profile of pancreaticobiliary duct mucosa (keratin 7+, keratin 20?, MUC2?). Even poorly differentiated carcinomas, as well as unusual histological types, may conserve the marker profile of the mucosa they developed from. These findings underline the concept of histogenetically different carcinomas of the papilla of Vater which develop either from intestinal- or from pancreaticobiliary-type mucosa of the papilla of Vater. Molecular alterations in ampullary carcinomas are similar to those of colorectal as well as pancreatic carcinomas, although they appear at different frequencies. In future studies, molecular alterations in ampullary carcinomas should be correlated closely with the different histologic tumor types. Consequently, the histologic classification should reflect the histogenesis of ampullary tumors from the two different types of papillary mucosa.     

Demonstration of the mechanism of action of biguanides

Summary Palmitic acid oxidation in rat diaphragm homogenate is depressed by biguanide concentrations that are still incapable of inhibiting oxidative phosphorylation. Glucose oxidation is not directly effected by the same biguanide concentrations: however, the inhibitory effect of palmitic acid on glucose oxidation is partly removed by biguanides. Inhibition of fatty acid oxidation, which accounts for most of the metabolic effects caused by these drugs, can be regarded as the fundamental mechanism of action of biguanides. There is some evidence suggesting that these drugs might interact with carnitine, thus preventing long-chain fatty acids from being transported across the mitochondrial membrane to the site of oxidation. Traduzione a cura degli AA.     

Lack of correlation of degree of villous atrophy with severity of clinical presentation of coeliac disease

BACKGROUND AND AIM: Both the clinical presentation and the degree of mucosal damage in coeliac disease vary greatly. In view of conflicting information as to whether the mode of presentation correlates with the degree of villous atrophy, we reviewed a large cohort of patients with coeliac disease. PATIENTS AND METHODS: We correlated mode of presentation (classical, diarrhoea predominant or atypical/silent) with histology of duodenal biopsies and examined their trends over time. RESULTS: The cohort consisted of 499 adults, mean age 44.1 years, 68% females. The majority had silent coeliac disease (56%) and total villous atrophy (65%). There was no correlation of mode of presentation with the degree of villous atrophy (p=0.25). Sixty-eight percent of females and 58% of males had a severe villous atrophy (p=0.052). There was a significant trend over time for a greater proportion of patients presenting as atypical/silent coeliac disease and having partial villous atrophy, though the majority still had total villous atrophy. CONCLUSIONS: Among our patients the degree of villous atrophy in duodenal biopsies did not correlate with the mode of presentation, indicating that factors other than the degree of villous atrophy must account for diarrhoea in coeliac disease.     

血吸虫童虫生长发育及其机制的研究进展

血吸虫童虫是宿主免疫系统攻击的重要靶标,包括皮肤型、肺型和肝门型童虫。宿主分子对童虫生长发育具有重要作用。童虫生长发育机制包括免疫调节、信号转导、性别发育及凋亡等。肌动蛋白、组织蛋白酶、烯醇化酶和葡萄糖基转移酶等分子为血吸虫童虫生长发育的重要分子。本文对血吸虫童虫生长发育及其机制的研究进展做一综述。     

氯硝柳胺悬浮剂的毒性评价

目的评价氯硝柳胺悬浮剂的毒性，为现场大规模应用灭螺提供依据。方法按照中华人民共和国国家标准GB 15670-1995《农药登记毒理学试验方法》和鱼类毒性试验方法进行。结果经口、经皮肤的LDso雌、雄性大鼠均>5 000 mg/kg，经呼吸道的LCso雌、雄性大鼠均>5 000mg/m3，该药经口、经皮肤、经呼吸道毒性均属微毒类药物；兔眼用药后，观察期内无不良反应，对眼无刺激性；皮肤用药后对皮肤无刺激性。与氯硝柳胺原药、氯硝柳胺乙醇胺盐原药和氯硝柳胺乙醇胺盐可湿性粉剂相比，氯硝柳胺悬浮剂对鱼急性毒性最低。结论氯硝柳胺悬浮剂属微毒类药物，对鱼的毒性低于其乙醇胺盐可湿性粉剂，适合于现场应用。     

124例耐多药结核分枝杆菌基因突变特征分析

目的对临床分离的耐多药结核分枝杆菌相关基因的突变特征进行分析。方法对124例耐多药结核分枝杆菌以及50株敏感株的耐药相关基因(包括异烟肼inh A、kat G、oxyR-ahp C间隔区以及利福平rpo B)进行序列测定,分析其基因突变情况。结果异烟肼耐药inh A基因突变率为14.5%;kat G基因突变率为70.2%(87/124),主要位于315位;oxyR-ahp C间隔区突变率为15.3%;inh A、kat G两种基因同时突变率75.0%,三种基因同时突变率为89.5%。利福平rpo B基因突变的检出率高达95.2%,突变主要发生在531、526、516位点。结论我省耐多药菌异烟肼耐药相关基因最常见突变为kat G 315、inh A C-T(-15)、axyR-ahp C间隔区(-10)C-T,利福平为rpo B531、526、516。结合MDR-TB耐药相关基因的特征分析,可以建立一种快速、准确、特异的适合于我省的检测结核菌耐多药性的新方法。     

Assessment of quality of life of parents of children with juvenile chronic arthritis

The aim of the study was to assess the quality of life (QOL) and the psychological status of parents of children with juvenile chronic arthritis (JCA). The QOL, anxiety and depression of the parents of 28 children with JCA were evaluated and compared to those of the parents of 28 healthy children. Mothers of JCA children and mothers of healthy children reported similar QOL. The reported anxiety and depression levels were similar for mothers and fathers in both groups. The parents of children with pauciarticular-type JCA reported lower QOL and higher levels of anxiety and depression than the parents of children with other types, namely polyarticular and systemic JCA. These findings may be explained by the fact that the pauciarticular patients had shorter disease duration and were less frequently seen in the outpatient clinic. The QOL of mothers of children with JCA was found to be slightly impaired in the group of children with pauciarticular JCA. Future larger studies are needed to confirm these results, as the number of subjects in the three groups was rather low. Received: 26 September 2001 / Accepted: 8 February 2002     

Numerical Simulation of the Effect of Rate of Change of Glucose on Measurement Error of Continuous Glucose Monitors

Background

A 5-day in-patient study designed to assess the accuracy of the FreeStyle Navigator® Continuous Glucose Monitoring System revealed that the level of accuracy of the continuous sensor measurements was dependent on the rate of glucose change. When the absolute rate of change was less than 1 mg•dl⁻¹•min⁻¹ (75% of the time), the median absolute relative difference (ARD) was 8.5%, with 85% of all points falling within the A zone of the Clarke error grid. When the absolute rate of change was greater than 2 mg•dl⁻¹•min⁻¹ (8% of the time), the median ARD was 17.5%, with 59% of all points falling within the Clarke A zone.

Method

Numerical simulations were performed to investigate effects of the rate of change of glucose on sensor measurement error. This approach enabled physiologically relevant distributions of glucose values to be reordered to explore the effect of different glucose rate-of-change distributions on apparent sensor accuracy.

Results

The physiological lag between blood and interstitial fluid glucose levels is sufficient to account for the observed difference in sensor accuracy between periods of stable glucose and periods of rapidly changing glucose.

Conclusions

The role of physiological lag on the apparent decrease in sensor accuracy at high glucose rates of change has implications for clinical study design, regulatory review of continuous glucose sensors, and development of performance standards for this new technology. This work demonstrates the difficulty in comparing accuracy measures between different clinical studies and highlights the need for studies to include both relevant glucose distributions and relevant glucose rate-of-change distributions.     

治疗高血压药物的经济学评价

重视高血压治疗中的经济学评价,对利用我国有限的卫生资源来遏制高血压对人民群众的危害有着重要的现实意义。药物经济学对于药物治疗的成本和治疗的结果给予同样的关注。因为治疗高血压的费用,不仅涉及药物价格,还包括患者的危险水平,降压疗效和对临床终点事件的影响,以及治疗的依从性和安全性。因此药物经济学更强调整体成本和价-效比。低危病人,若非药价低廉,治疗的价-效比不够理想。而在高危的患者,价-效比越小越经济而不是药费越便宜越好。