遗传性出血性毛细血管扩张症一家系调查报告

1　病例简介患者 ,女 ,17岁 ,因畏寒 ,发热 ,腹泻 5天 ,鼻出血 3小时入院。受凉后起病 ,有不洁饮食史。畏寒 ,高热 ,为弛张热 ,体温最高达 4 1℃。腹泻 ,为黄色稀便 ,3～ 5次 /天 ,30～ 50ｍｌ/次 ,入院前 3小时突发双侧鼻出血 ,量约 70～ 80ｍｌ,自行填塞无效 ,入院后予以呋麻液棉球填塞后出血停止。查体 ,Ｔ4 0℃ ,Ｐ12 8次 /分 ,Ｒ2 2次 /分 ,ＢＰ13/7ｋＰａ。神清 ,神萎 ,双侧鼻腔为棉球填塞 ,软腭上有两处直径 1 5ｍｍ及 2ｍｍ的扩张血管 ,压之褪色 ,全身皮肤未见出血点 ,瘀斑。甲床未见血管扩张。心、肺未发现异常。全腹轻压痛 ,以右…     

遗传性出血性毛细血管扩张症鼻出血治疗分析

目的探讨遗传性出血性毛细血管扩张症鼻出血的治疗。方法从1993年3月至2007年12月回顾性分析15例遗传性出血性毛细血管扩张症鼻出血临床诊治情况。5例患者行鼻腔激光治疗；9例患者行鼻腔填塞和雌激素治疗；1例行颈外动脉结扎术。所有病例随访3个月-3年。结果15例患者均有效地控制鼻出血，痊愈出院。结论遗传性出血性毛细血管扩张症鼻出血临床疗效满意。     

家族性多发性结肠息肉病伴遗传性出血性毛细血管扩张症1例

家族性多发性结肠息肉病是与遗传有关的大肠息肉病中最常见的一种 ,属常染色体显性遗传。但与遗传性出血性毛细血管扩张症合并存在者作者尚未见文献报告。现报告一个家族调查情况并讨论。1　先证者患者 ,女 ,18岁。因鼻出血 2年 ,便血 3个月就诊。做纤维结肠镜发现横结肠三颗黄豆大小广基息肉 ,乙状结肠两颗约 1cm× 1cm带蒂息肉。活检病理报告 :腺瘤样息肉。2　家系调查发现先证者后 ,对其家族进行调查。三代共 13人 ,其中男性 5人 ,女性 8人。详细查问病史及系统检查 ,包括先证者发现患者 5例 ,其中男 2例 ,女 3例。见图 1。图 1　家系调…     

遗传性出血性毛细血管扩张症一家系诊断与治疗研究

目的:探讨遗传性出血性毛细血管扩张症(HHT)家系的临床特征、诊断及治疗。方法:对先证者进行家系调查、体格检查及胃肠镜检查,经过沙利度胺治疗后复查胃肠镜。结果:本家系4代包括先证者在内共7例患者。先证者经沙利度胺系统治疗后,症状缓解,胃镜复查出血灶明显减少。结论:遗传性出血性毛细血管扩张症家系以反复胃出血为主要表现,沙利度胺能够很好地控制患者的出血症状。     

超声诊断2例累及肝脏的遗传性出血性毛细血管扩张症

目的 探讨彩色多普勒超声对累及肝脏的遗传性出血性毛细血管扩张症(HHT)的超声表现.方法 观察2例临床确诊的HHT累及肝脏的超声表现.结果 2例患者均表现为肝固有动脉及肝内动脉分支明显增宽伴走行迂曲扩张,血流速度增快,1例发现肝内动静脉瘘.结论 彩超未诊断累及肝脏的HHT提供一种新的检查方法,具有重要的临床价值.     

遗传性出血性毛细血管扩张症并鼻出血一例并文献复习

<正>遗传性出血性毛细血管扩张症(hereditary hemorrhagictelangiectasia,HHT)是一种少见的常染色体显性遗传病,以血管扩张和出血为主要表现。我科曾收治1例有严重鼻出血症状的遗传性出血性毛细血管扩张症患儿,现报告如下。1病历摘要患儿女,6岁,主因间断双鼻腔出血3余年,加重十余天     

以肺部游走性阴影为主要表现的遗传性出血性毛细血管扩张症1例

以肺部游走性阴影为主要表现的遗传性出血性毛细血管扩张症１例张云辉患者、男、１９岁，学生。因咳血半年入院。患者于１９９２年１２月，无诱因出现咳血，１０ｍｌ／日，胸片示右肺上野有－２ｃｍ×３ｃｍ之阴影，诊为肺结核，给链霉素、乙胺丁醇、异烟肼抗痨治疗３个月...     

鱼肝油酸钠治疗鼻中隔出血性毛细血管扩张症64例

鼻中隔出血性毛细血管扩张症是临床耳鼻喉科常见病症之一,目前多采用烧灼、冷冻等止血方法。1985—10～1990—12,我们应用中隔粘膜下注射鱼肝油酸钠治疗鼻中隔出血性毛细血管扩张症64例,收到满意疗效,报告如下。 1 临床资料 64例患者中,男48例,女16例,年龄14岁—70岁,20岁—35岁占41例,病程15年4例,5—10年26例,2—4年20例,1—2年14例,出血以单侧为多,其中左侧22     

光子嫩肤技术治疗面部毛细血管扩张症的探讨

目的分析与探讨光子嫩肤技术治疗面部毛细血管扩张症的临床效果。方法选取了我院近年来60例面部毛细血管扩张症患者,采用强脉冲光治疗仪特定的波长,给予不同的能量密度及脉冲宽度实施治疗,治疗次数2⁶次,间隔时间为1个月。结果 60例面部毛细血管扩张症患者,通过光子嫩肤技术治疗后效果显著,其有效率为95%,且面部的皮肤光泽润滑,无1例皮损伤及并发症发生。结论采用光子嫩肤技术治疗面部毛细血管扩张症,疗效显著,治疗周期短,恢复快,不良反应的发生率低,具有一定的推广价值与应用价值。     

Introduction: hereditary hemorrhagic telangiectasia as a rare disease

A disease is considered rare in the United States when it affects one individual per 1, 250 and one individual per 2,000 in Europe. Most rare diseases (RD) are of genetic origin; their rarity involves a difficult and/or late diagnosis. The greatest barrier to prevention, diagnosis and treatment of RD is inadequate knowledge. Hereditary haemorrhagic telangiectasia (HHT) is a "rare" genetic disorder that is becoming more commonly recognised. Recent evidence indicates that it is more frequent (1-2/10,000) than previously estimated. We suppose that the frequent misdiagnosis and the different genetic penetrance have led to an underestimation of real prevalence. In fact, progress in scientific knowledge and improvement in diagnostic and therapeutic technologies has unmasked conditions which were not fully known previously, determining a fictitious decrease in disease frequency.     

Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia

Introduction: Hereditary Haemorrhagic Telangiectasia (HHT) is as an autosomal dominant trait characterized by frequent nose bleeds, mucocutaneous telangiectases, arteriovenous malformations (AVMs) of the lung, liver and brain, and gastrointestinal bleedings due to telangiectases. HHT is originated by mutations in genes whose encoded proteins are involved in the transforming growth factor β (TGF-β) family signalling of vascular endothelial cells. In spite of the great advances in the diagnosis as well as in the molecular, cellular and animal models of HHT, the current treatments remain just at the palliative level.

Areas covered: Pathogenic mutations in genes coding for the TGF-β receptors endoglin (ENG) (HHT1) or the activin receptor-like kinase-1 (ACVRL1 or ALK1) (HHT2), are responsible for more than 80% of patients with HHT. Therefore, ENG and ALK1 are the main potential therapeutic targets for HHT and the focus of this review. The current status of the preclinical and clinical studies, including the anti-angiogenic strategy, have been addressed.

Expert opinion: Endoglin and ALK1 are attractive therapeutic targets in HHT. Because haploinsufficiency is the pathogenic mechanism in HHT, several therapeutic approaches able to enhance protein expression and/or function of endoglin and ALK1 are keys to find novel and efficient treatments for the disease.     

Involvement of the transforming growth factor beta in the pathogenesis of hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is characterized by vessel alterations such as dilatation of postcapillary venules and arterio-venous communications, which account for the major clinical manifestations of the disease. Two types of HHT have been characterized HHT-1 and HHT-2, respectively, depending the former on endoglin mutations and the latter on activin receptor-like kinase 1 (ALK-1) mutations. Both endoglin and ALK-1 bind to the transforming growth factor (TGF) superfamily which, physiologically, regulates the activities of endothelial cells and also those related to the extracellular matrix. In this review, the salient features of TGF-beta will be outlined with special reference to its activity on the immune system and on tumorigenesis. Furthermore, the involvement of TGF-beta in the pathogenesis of some gastrointestinal diseases will be discussed and, in particular, in the course of liver disease, Helicobacter pylori infection and inflammatory bowel disease. In the light of these data and of animal model of HHT, the potential risk of developing other diseases in HHT patients will be discussed.     

延迟复苏治疗活动性失血性休克临床探讨

目的:探讨延迟复苏策略治疗重症活动性失血性休克在临床的应用实践。方法:延迟复苏组(A组),限制输晶体液和胶体液量,扩容更多地依赖输血及血浆,控制目标血压以收缩压80~90 mm Hg(1 mm Hg=0.133 kPa)为允许性低血压;传统复苏组(B组),不限制输晶体液和胶体液量,快速进行液体复苏。输液以晶体液和胶体液为主,输血及血浆为辅助,不有意控制血压上限。结果:A组抢救成活率显著高于B组。结论:在重症加强护理病房(ICU)临床上认识重症活动性失血性休克特殊性以及治疗的特殊性。应用延迟复苏方法,有望提高该类危重患者的治愈率。     

他汀类药物与出血性卒中

他汀类药物目前广泛应用于冠状动脉粥样硬化性心脏病和缺血性卒中的预防,但也有研究发现该类药物可能增加出血性卒中的风险.发生机制可能与血胆固醇水平、微出血及他汀类药物自身药理作用有关.他汀类药物所引起的出血性卒中主要表现为颅内出血,包括脑叶出血和深部出血.既往用药史是判断相关性的重要依据.治疗措施包括停药、降低颅内压、控制血压及对症治疗.     

阿魏酸哌嗪联合血液透析治疗肾综合征出血热急性肾衰竭的临床观察

目的:观察阿魏酸哌嗪联合血液透析治疗肾综合征出血热急性肾衰竭的临床疗效及其作用机制。方法:肾综合征出血热伴急性肾衰竭患者28例按抽签方式随机分为治疗组和对照组,各14例,对照组行血液透析等常规治疗方案,治疗组在对照组治疗基础上服用阿魏酸哌嗪,200 mg tid,观察治疗前后临床体征、肾功能、血浆内皮素(ET)、循环内皮细胞数量的变化。结果:治疗组无死亡病例,且全部治愈;对照组死亡1例,但2组死亡率比较无统计学差异(χ²=1.04,P>0.05;χ²=3.36,P>0.05)。在血肌酐(Scr)、尿素氮(BUN)恢复正常时间、尿蛋白消失时间、血浆ET-1、循环内皮细胞等方面,治疗组明显优于对照组(P<0.05)。结论:阿魏酸哌嗪能保护血管内皮功能,促进肾综合征出血热急性肾衰竭患者康复。     

Molecular basis of ataxia telangiectasia and related diseases

Ataxia telangiectasia (AT) is a rare human disease characterized by extreme cellular sensitivity to radiation and a predisposition to cancer, with a hallmark of onset in early childhood. Several human diseases also share similar symptoms with AT albeit with different degrees of severity and different associated disorders. While all AT patients contain mutations in the AT-mutated gene (ATM), most other AT-like disorders are defective in genes encoding an MRN protein complex consisting of Mre11, Rad50 and Nbs1. Both ATM and MRN function as cellular sensors to DNA double-strand breaks, which lead to the recruitment and phosphorylation of an array of substrate proteins involved in DNA repair, apoptosis and cell-cycle checkpoints, as well as gene regulation, translation initiation and telomere maintenance. ATM is a member of the family of phosphatidylinositol 3-kinase-like protein kinases (PIKK), and the discovery of many ATM substrates provides the underlying mechanisms of heterologous symptoms among AT patients. This review article focuses on recent findings related to the initial recognition of double-strand breaks by ATM and MRN, as well as a DNA-dependent protein kinase complex consisting of the heterodimer Ku70/Ku80 and its catalytic subunit DNA-PKcs, another member of PIKK. This possible interaction suggests that a much greater complex is involved in sensing, transducing and co-ordinating cellular events in response to genome instability.     

佛山地区流行性出血热的临床特点及预后影响因素的研究

目的 为了解佛山地区近十年流行性出血热的临床特点及预后影响的危险因素,特开展此研究.方法 分析390例流行性出血热病人的临床资料的特点,并对疾病严重程度的相关因素作相关分析.结果 所有病例均有发热症状,以腰痛、乏力、腹泻为主;仅有71.8％患者经特异性IgM抗体阳性检测证实;具有典型临床五期经过者占43.6％;实验结果显示,多数患者存在肝、肾、肺、心等不同程度损伤;血液净化、严重器官损害、肾功能、五期经过与疾病严重程度关系较为密切.结论 为避免漏诊,应加强血小板、尿蛋白等血清学检查.     

达那唑治疗遗传性血管性水肿的疗效与安全性

目的评价达那唑治疗遗传性血管性水肿（HAE）的疗效和安全性。方法收集1985至2010年于北京协和医院就诊，应用达那唑≥1年、随访时问≥1年或随访次数≥5次并有完整随访记录的HAE患者的临床资料进行回顾性分析。疗效评估指标为用药前后皮肤水肿、腹痛、喉头水肿发作频率、血清补体第1成分抑制因子（C1INH）含量与功能、血清补体第4成分（C4）含量。安全性评价指标为用药前后肝功能、体重、女性患者月经情况变化。结果24例患者符合纳入标准。男、女性各12例，就诊年龄（36±15）岁，病程（15±8）年。达那唑初始剂量均为200mg，2～3次／d，口服1～4周逐渐减至维持剂量，男性维持剂量为（169±94）mg／d，女性为（130±56）mg／d。24例患者服用达那唑时间的中位数和四分位数间距为5（1．1～10．3）年。服用达那唑之前，24例患者体表水肿、喉头水肿和腹痛发生率分别为100％（24例）、70．8％（17例）和62．5％（15例），治疗后分别降至41．6％（10例）、12．5％（3例）和8．3％（2例），差异均有统计学意义（均P〈0．01）。服用达那唑1～4周后，24例患者血清C1INH含量和功能分别由治疗前的（0．08±0．06）g／L和（0．14±0．04）U／ml升至（0．12±0．07）g/L（P=0．05）和（0．26±0．05）U／ml（P〈0．01），但未恢复至正常水平。22例患者有血清C4含量检测结果记录，2004年前后就诊者分别为17和5例，服用达那唑前后C4含量分别为（23．5±12．6）、（56．9±30．0）mg/L和（0．06±0．01）、（0．08±0．01）g/L，差异均有统计学意义（均P〈0．05）。2例患者分别在服药30和45d后血清丙氨酸转氨酶由25和20U／L升至138和74U／L，并出现脱发、油脂分泌增多、烦躁等症状，给予保肝治疗后恢复正常。6例体重较服药前增加。6例女性患者分别出现停经、月经周期延长或缩短、月经量减少或增多等症状，将达那唑剂量减至200mg，1次／d或隔日1次后，月经紊乱得到明显改善。结论达那唑治疗HAE有效且安全。建议将血清G4水平作为调整达那唑剂量的指标。