嗜铬细胞瘤发病机制的分子生物学进展

嗜铬细胞瘤来源于肾上腺髓质 ,交感神经节或体内其他部位的嗜铬组织 ,从胚胎学来说 ,他们均起源于外胚层的神经嵴细胞〔1〕。嗜铬细胞瘤有良性和恶性 ,可散发 ,也可呈家族性 ,家族性中大部分病人为遗传性肿瘤综合征 ,如 :多内分泌腺瘤病Ⅱａ型 ,多内分泌腺瘤病Ⅱｂ型 ,ｖｏｎＨｉｐｐｅｌ Ｌｉｎｄａｕ病 ,神经纤维瘤病Ⅰ型 (ｎｅｕｒｏｆｉｂｒｏｍａｔｏｓｉｓｔｙｐｅ 1,ＮＦ1)。嗜铬细胞瘤的发病机制很复杂 ,目前尚未完全清楚 ,随着分子遗传学和分子生物学技术的发展和应用 ,近年来在这方面的研究取得了进展 ,本文拟就家族性和恶性嗜铬…     

嗜铬细胞瘤的诊疗进展

肾上腺疾病是继发性高血压的重要病因,临床上最常见引起高血压的肾上腺性疾病是原发性醛固酮增多症和嗜铬细胞瘤。尤其是嗜铬细胞瘤,以前认为是一种罕见病,但随着诊断技术的提高和临床医生对此病的认识增强,发现其在高血压人群中相当多见,近年国外报道高血压人群患病率约为1.9%     

嗜铬细胞瘤诊治进展

嗜铬细胞瘤是一种功能性肿瘤,临床症状多样。如能及时诊断及恰当治疗,绝大部分患者预后良好,否则可出现严重并发症甚至死亡。1　定性诊断1.1　生化检验　在现有生化检验中,血及尿儿茶酚胺测定和尿甲氧基肾上腺素测定具有较高的敏感性和特异性,而尿3-甲氧基-4羟基苦杏仁酸(VMA)的敏感性及特异性较低[1]。24小时尿甲氧基肾上腺素对嗜铬细胞瘤诊断的敏感性为98%。高压液相(HPLC)测定去甲肾上腺>80μg/24h、肾上腺素>20μg/24h,多巴胺>400μg/24h对本病诊断极敏感,但特异性差。将24小时尿去甲肾上腺素>170μg、肾上腺素>35μg确定为阳性标准,…     

嗜铬细胞瘤分子病因学研究进展

嗜铬细胞瘤/副神经节瘤(pheochromocytoma/paraganglioma, PPGL)是一种罕见的神经内分泌肿瘤,约40%的PPGL具有家族遗传性,其发病与已知致病基因的胚系突变相关。此外,肿瘤的体细胞基因突变、拷贝数变异、甲基化程度和非编码RNA也参与PPGL的发生。全面和深入了解PPGL的发病机制,将为...     

嗜铬细胞瘤的心血管病变

嗜铬细胞瘤(Pheo)的心脏改变主要是儿茶酚胺(Catecholamine, Ca)对心肌的直接毒性作用,而非高血压所致。主要表现为心肌炎、肥厚性心肌病、扩张型心肌病,故称为嗜铬细胞瘤致儿茶酚胺性心脏病(PCHD)。一、发病机理1.儿茶酚胺直接对心肌产生毒性作用:Pheo可分泌大量Ca,影响心肌代谢,使心肌耗氧量增加,冠脉扩张,血流量增加,ATP形成减少。Ca激活腺苷酸环化酶,可使ATP转为cAMP,     

嗜铬细胞瘤38例临床分析

对经病理证实的38例嗜铬细胞瘤患者进行临床分析,肿瘤位于肾上腺者29例,肾上腺外者9例;3例为恶性,36例有高血压;7例病程中高血压、正常血压、低血压交替出现。尿3-甲氧-4-羟苦杏仁酸测定对诊断有重要意义;B超检查阳性率高,可作为定位诊断的首选方法。     

嗜铬细胞瘤危象

嗜铬细胞瘤起源于交感神经系统的嗜铬细胞，约85％～90％发生在肾上腺髓质，其余在肾上腺外的交感神经组织，其基本病理生理是肿瘤细胞分泌大量的儿茶酚胺（肾上腺素和／或去甲肾上腺素），作用于肾上腺素能受体，引起以高血压及代谢紊乱为主的症候群。严重时可出现嗜铬细胞瘤危象（pheochromocytomacrisis），包括高血压危象、儿茶酚胺心肌病的危重症状，如心律失常、心力衰竭、心源性休克、心肌梗塞等，以及颅内出血、胃肠道出血、摔死等。现将其主要表现及处理分述如下：病血压危象嗜铬细胞瘤患者的高血压可呈阵发性和持续性，约各占半数…     

嗜铬细胞瘤55例临床分析

我们收集了1975～1990年山东医科大学附院、山东电力医院及泰安市中心医院收治的55例嗜铬细胞瘤病人的资料,旨在探讨本病的诊断与治疗。一、一般资料本组男22例,女33例;年龄10～57岁,平均31岁,均经手术及病理检查确诊。其中临床表现为阵发性高血压24例,持续性高血压28例,高血压与低血压交替1例,血压正     

嗜铬细胞瘤诊断方法探讨（附20例分析）

对２０例嗜铬细胞瘤作临床分析，认为高血压是本病的主要临床表现，尿苦杏仁酸（ＶＭＡ），儿茶酚胺（ＣＡ）定量检查及酚妥拉明试验有画于定性诊断，而ＣＴ，Ｂ超检查对定位诊断有重要意义，其阳性率可达１００％。     

嗜铬细胞瘤20例临床分析

目的：探讨嗜铬细胞瘤临床特点，提高诊治水平。方法：对20例嗜铬细胞瘤的临床资料总结分析。结果：20例均经手术治疗，单侧17例，家族性双侧3例，恶性嗜铬细胞瘤4例，肾上腺外嗜铬细胞瘤1例，无症状嗜铬细胞瘤4例。结论：嗜铬细胞瘤典型表现是高血压、头痛、心悸和出汗，而无症状性、家族性和其他非典型的特殊表现需引起注意。儿茶酚胺及影像学检查是主要的诊断手段。     

Budd-Chiari syndrome： Etiology, pathogenesis and diagnosis

Budd-Chiari syndrome is a congestive hepatopathy caused by blockage of hepatic veins. This syndrome occurs in 1/100 000 in the general population. Hypercoagulable state could be identified in 75% of the patients; more than one etiologic factor may play a role in 25% of the patients. Primary myeloproliferative diseases are the leading cause of the disease. Two of the hepatic veins must be blocked for clinically evident disease. Liver congestion and hypoxic damage of hepatocytes eventually result in predominantly centrilobular fibrosis. Doppler ultrasonography of the liver should be the initial diagnostic procedure. Hepatic venography is the reference procedure if required. Additionally liver biopsy may be helpful for differential diagnosis. The prognosis of the chronic form is acceptable compared to other chronic liver diseases.     

成人Still病发病机制、诊断和治疗进展

成人Still病(AOSD)是一种病因未明,以长期发热、一过性皮疹、关节炎/关节痛等为主要表现的少见全身炎症性疾病.近年来对其发病机制的研究显示炎性细胞因子,尤其是白介素18(IL-18),在其发病过程中起了重要作用,并有一些少见临床表现的报道.过去一直是一个排除性的诊断,近年有人提出了新的临床诊断标准,对不明原因发热...     

Celiac disease: Prevalence, diagnosis, pathogenesis and treatment

Celiac disease(CD) is one of the most common diseases,resulting from both environmental(gluten) and genetic factors [human leukocyte antigen(HLA) and nonHLA genes].The prevalence of CD has been estimated to approximate 0.5%-1% in different parts of the world.However,the population with diabetes,autoimmune disorder or relatives of CD individuals have even higher risk for the development of CD,at least in part,because of shared HLA typing.Gliadin gains access to the basal surface of the epithelium,and interact directly with the immune system,via both trans-and para-cellular routes.From a diagnostic perspective,symptoms may be viewed as either "typical" or "atypical".In both positive serological screening results suggestive of CD,should lead to small bowel biopsy followed by a favourable clinical and serological response to the gluten-free diet(GFD) to confirm the diagnosis.Positive anti-tissue transglutaminase antibody or antiendomysial antibody during the clinical course helps to confirm the diagnosis of CD because of their over 99% specificities when small bowel villous atrophy is present on biopsy.Currently,the only treatment available for CD individuals is a strict life-long GFD.A greater understanding of the pathogenesis of CD allows alternative future CD treatments to hydrolyse toxic gliadin peptide,prevent toxic gliadin peptide absorption,blockage of selective deamidation of specific glutamine residues by tissue,restore immune tolerance towards gluten,modulation of immune response to dietary gliadin,and restoration of intestinal architecture.     

肾上腺外嗜铬细胞瘤11例临床分析

回顾性分析新疆维吾尔自治区人民医院1998年至2008年11例经手术后病理证实为肾上腺外嗜铬细胞瘤的临床表现、定性和定位检查资料.肾上腺外嗜铬细胞瘤的定性诊断与肾上腺内嗜铬细胞瘤者相同,但定位诊断常较困难,即使131I-MIBG阳性率比较低,结合病史、临床特点以及B超、CT、MRI等检查可提高诊断的阳性率.一旦确诊,手术治疗是最佳选择.     

嗜铬细胞瘤的诊治

一例34岁男性因波动性高血压疑为嗜铬细胞瘤而转至本科就诊。该患者临床表现典型,人院查血浆甲氧基肾上腺素(MN)及甲氧基去甲肾上腺素(NMN)均明显升高,CT和PET-CT检查均发现左侧肾上腺占位,诊断为嗜铬细胞瘤。术前予以甲磺酸多沙唑嗪控释片4 mg/d口服2周,血压平稳,在腹腔镜下行左侧肾上腺肿瘤切除术。术后病理提示嗜铬细胞瘤,MN、NMN、血压恢复正常,症状缓解。该患者术后随访3年,血压、血浆MN、NMN水平均正常,肾上腺CT未见肿瘤复发。     

Watery diarrhea, hypokalemia and achlorhydria syndrome due to an adrenal pheochromocytoma

Watery diarrhea, hypokalemia and achlorhydria (WDHA)syndrome caused by vasoactive intestinal polypeptide (VIP) -producing tumor only rarely occurs in patients with nonpancreatic disease. A 49-year-old woman was referred for evaluation of a right adrenal tumor incidentally diagnosed by abdominal ultrasound during the investigation of chronic watery diarrhea. Laboratory findings showed hypokalemia and excessive production of VIP and catecholamines. After surgical resection of the tumor, diarrhea subsided and both electrolytes and affected hormone levels normalized. Immunohistochemical examination confirmed a diagnosis of pheochromocytoma,which contained VIP-positive ganglion-like cells. We herein present the clinical and histogenetic implications of this rare clinical entity, with literature review.     

嗜铬细胞瘤的诊治策略

嗜铬细胞瘤是一种少见的疾病,其在高血压人群中的患病率为0.5%～1%,其所致恶性高血压是导致心力衰竭、心肌梗死、脑卒中和肾功能受损的重要危险因素,因此对嗜铬细胞瘤的早期诊断、早期治疗显得尤为重要.现就嗜铬细胞瘤的临床特征、生化诊断、定位诊断、处理、基因筛查等进行探讨.     

An insight into the diagnosis and pathogenesis of hepatitis C virus infection

This review focuses on research findings in the area of diagnosis and pathogenesis of hepatitis C virus(HCV)infection over the last few decades.The information based on published literature provides an update on these two aspects of HCV.HCV infection,previously called blood transmitted non-A,non-B infection,is prevalent globally and poses a serious public health problem worldwide.The diagnosis of HCV infection has evolved from serodetection of non-specific and low avidity anti-HCV antibodies to detection of viral nucleic acid in serum using the polymerase chain reaction(PCR)technique.Current PCR assays detect viral nucleic acid with high accuracy and the exact copy number of viral particles.Moreover,multiplex assays using real-time PCR are available for identification of HCV-genotypes and their isotypes.In contrast to previous methods,the newly developed assays are not only fast and eco-nomic,but also resolve the problem of the window period as well as differentiate present from past infection.HCV is a non-cytopathic virus,thus,its pathogenesis is regulated by host immunity and metabolic changes including oxidative stress,insulin resistance and hepatic steatosis.Both innate and adaptive immunity play an important role in HCV pathogenesis.Cytotoxic lymphocytes demonstrate crucial activity during viral eradication or viral persistence and are influenced by viral proteins,HCV-quasispecies and several metabolic factors regulating liver metabolism.HCV pathogenesis is a very complex phenomenon and requires further study to determine the other factors involved.