遗传性出血性毛细血管扩张症一例

患者,男,29岁,农民.因“发现乙肝病毒标志物阳性7～8年,乏力、食欲下降2个月”,于2013年8月19日以“乙型慢性病毒性肝炎”收入院.患者在入院前曾在当地诊所给予护肝及口服中药治疗1个月,症状无明显好转.既往自幼有“鼻出血”病史,曾在外院诊断为“鼻中隔偏曲”给予手术治疗,几乎每天鼻出血症状无明显改善,每逢下雨和夏天鼻出血症状明显,入院前1个月症状加重.2012年10月因“贫血”在外院行骨髓穿刺检查,并有因“缺铁性贫血”输血史,具体不详.体格检查：体温36℃,呼吸18次/分,脉搏64次/分,血压120/60 mmHg.     

遗传性出血性毛细血管扩张症研究现状

遗传性出血性毛细血管扩张症（hereditary hemorrhagic telangieetasia,HHT）是一种常染色体显性遗传的以多系统血管发育异常,临床表现以反复鼻出血为特征,伴有皮肤及内脏血管扩张的出血性疾病。国外有关的流行病学调查显示,欧洲国家HHT的发病率相对比较高,人群中HHT的平均发病率约为1／2000;北美洲国家HHT的发病率比较低,人群中HHT的发病率约为1／10000;而在黑种人和阿拉伯人中HHT罕见。在亚洲国家中,HHT的发病率也比较低,日本北部的秋田县HHT的发病率约为1／5000～1／8000。目前国内尚缺乏临床流行病学的资料统计,只有散发的病例报道。     

遗传性出血性毛细血管扩张症伴重度贫血1例

<正>遗传性出血性毛细血管扩张症(HHT)是一种血管壁结构发育异常的常染色体显性遗传性疾病。该病以皮肤、黏膜等多部位毛细血管扩张性病变及出血为主要临床表现。我科曾收治1例重度贫血伴鼻衄的HHT患者,现报道如下。1临床资料患者,女,60岁,因间断性鼻衄7年余,加重1 w入院。患者7年前无明显诱因出现间断性鼻衄,量约50 ml,易止,出血间隔时间约7 d。3年前鼻出血症状加重,出血间隔时间缩短为     

肺动静脉畸形合并遗传性出血性毛细血管扩张症1例报告并文献复习

肺动静脉畸形(pulmonary arteriovenous malformations,PAVMs)是一种少见的肺血管畸形,是肺动脉和肺静脉之间异常沟通所形成的肺部疾病。此病可合并遗传性出血性毛细血管扩张症(hereditary hemorrhagic telangiectasia,HHT)。现将本院收治的1例PAVMs合并HHT报道如下,并结合文献     

以消化道出血为主要表现的遗传性出血性毛细血管扩张症一例

患者女,43岁.因间歇性黑便1月余,加重伴呕血1小时入院.患者于1月前无明显诱因出现解黑便,每日1次,每次约100 g,伴头晕、乏力、心慌,在外院拟诊为"消化道出血".入院前1小时感症状加重,伴呕血1次,为咖啡样血块,量约150ml.入院查体:贫血貌,上唇、左上肢,左下肢、右臀部可见大小不一的紫蓝色静脉球,表面光滑,压之褪色,质软,无压痛.既往体健,无其它部位出血史,患者妹妹及两个堂姐姐有类似皮肤黏膜改变.入院拟诊:①蓝色橡皮疱痣综合征;②遗传性出血性毛细血管扩张症.     

遗传性出血性毛细血管扩张症合并十二指肠球部溃疡一例

<正>1病例介绍患者,男,57岁,主因腹痛5月余入院。患者5月余前无明显诱因出现上腹痛,以右上腹为重,反复发作,与进食无关,伴纳差乏力,无恶心呕吐,无反酸嗳气,无畏寒发热,2021年4月20日至徐州医科大学附属医院门诊查电子胃镜示:食管炎,慢性非萎缩性胃炎伴糜烂,十二指肠球部溃疡A1期(见图1)。入院体检结果:体温36.7℃,心率90次/min,呼吸18次/min,血压125/70 mm Hg。神志清,精神可,面部及鼻多发毛细血管扩张,全身皮肤巩膜无黄染。     

遗传性出血性毛细血管扩张症伴上消化道出血1例

<正>患者女,57岁,因反复呕血10d入院。入院前10d无明显诱因出现呕暗红色胃内容物1次,量约500ml,伴头晕、心悸不适,无排黑便、血便,无腹痛、发热等,就诊外院,给予制酸、止血等处理后,症状改善。1d前无明显诱因再次出现呕鲜血3次,伴乏力、头晕、一过性晕厥,急诊我院。测血压为80/52mmHg(1 mmHg=0.133kPa),查血常规:WBC5.6×109/L,HGB 81g/L,PLT 230×109/L,血凝     

肝脏遗传性出血性毛细血管扩张症1例报告

<正>1病例资料患者女性,50岁,因“体检行腹部超声发现肝脏血流异常”就诊本院。彩色多普勒血流显像:扩张的肝动脉及其分支内可见红蓝相间闪烁的明亮血流信号,且血流束较粗,大于正常同级的肝动脉内径(图1)。询问病史:患者无腹痛、腹胀,无眼黄、尿黄,无呕血、黑便,无纳差、乏力,无发热,无消瘦。体检:嘴唇、舌面、双手指掌面可见散在多处毛细血管扩张,直径2～4 mm,余未见异常。查血常规及肝肾功能均正常。进一步完善全腹增强CT+CTA示:肝右叶两枚囊肿,脾肿大;CTA示腹腔干及其分支增粗、扭曲,考虑遗传性出血性毛细血管扩张累及肝脏(图2、3)。追问病史:患者近数十年间无明显诱因反复鼻出血,量不多,可自行停止,一直未予诊治,患者两位同胞兄弟也有类似鼻出血病史。根据患者有长期反复鼻出血,嘴唇、舌面、双手指掌面可见散在多处毛细血管扩张及肝脏、腹部动脉多处受累,该患者诊断遗传性出血性毛细血管扩张症(hereditary hemorrhagic telangiectasia,HHT)。鉴于患者临床仅表现为自发性少量鼻出血而无其他系统症状,无血红蛋白下降及肝功能异常,嘱其观察随访,定期复查腹部超...     

遗传性出血性毛细血管扩张症并发肺动静脉瘘一例

1病例介绍患者,男,50岁,因“反复胸闷19年,加重伴气促、发热4d”入院。既往反复有血便、鼻衄、贫血病史30余年,2007年因重度贫血住院治疗,行骨髓检查未见明显异常,当时诊断不详,予以输血、补铁等对症治疗好转后出院;曾因脾周脓肿行切开引流术。2012-06在我院行冠状动脉＋肺动脉＋腹腔干＋肠系膜上动脉＋双肾动脉造影术,除肺动脉造影提示左下肺动脉远端可见多个大小不一血管瘤扩张,形成动静脉瘘,其他无特殊,并行肺动静脉瘘栓塞术治疗;2012-11因三度房室传导阻滞行永久性心脏起搏器植入术。既往有输血史,否认家族中有类似病史。入院查体：T 37.9℃,P 56 bpm,R 23 bpm,BP 111／47 mmHg ,神清,巩膜无黄染,重度贫血貌,口唇轻度紫绀,鼻及口腔黏膜可见毛细血管扩张,面部,上肢见散在多发红色点状毛细血管扩张,浅表淋巴结未触及,颈静脉明显怒张,两肺呼吸音粗,双侧肺可闻及啰音,心界向左下扩大,心率53 bpm ,律齐,未闻及明显杂音。腹部膨隆,左上腹可见长约25 cm陈旧性瘢痕,全腹无压痛、反跳痛,肝脾触诊不满意,肝肾脾三区无明显叩击痛,肠鸣音正常,双下肢可见褐色色素沉着,右下肢中度凹陷性水肿,左下肢重度凹陷性水肿。入院诊断“遗传性出血性毛细血管扩张症（hereditary hemorrhagic telangiectasia ,HHT）”。辅助检查：血常规示白细胞14.4＆#215;109／L,单核细胞0.84＆#215;109／L,血红蛋白30 g／L;大便常规：红细胞＋＋＋,潜血阳性;肾功能：肌酐356μmol／L;电解质：钾6.64 mmol／L;凝血功能异常;肝功能提示转氨酶升高、低蛋白血症。入院予以吸氧、抗感染、利尿、平喘、输血及血浆、钙剂＋胰岛素、人血白蛋白等对症处理后,复查体温、白细胞、肌酐、电解质恢复正常,血红蛋白回升至40～63 g／L,凝血功能和肝功能逐渐较前改善,双下肢水肿消退。     

遗传性出血性毛细血管扩张症诱发肝性脑病1例

报道1例表现为肝性脑病的遗传性出血性毛细血管扩张症,国内鲜有报道,在诊断和治疗上具有参考意义。     

Hereditary persistence of alpha-fetoprotein (HPAF P): review of the literature

Alpha-fetoprotein (AFP) serum levels are raised in several clinical conditions, ranging from non-pathological conditions to malignancies. Hereditary persistence of alpha-fetoprotein (HPAFP) is a rare benign disorder with elevated AFP levels. HPAFP is described as a benign autosomal dominantly inherited condition which is not associated with any clinical disability or additional symptoms. In the past 28 years, only 19 families have been described; due to this unfamiliarity with HPAFP, elevated AFP levels are never attributed to HPAFP. However, undiagnosed HPAFP can result in inappropriate and unnecessary treatment decisions. Therefore, HPAFP should be taken into consideration in patients with unexplained elevated AFP levels, and especially in patients with urological disorders.     

Hereditary angioneurotic edema: review of the literature

Congenital C1-inhibitor deficiency, or hereditary angioneurotic edema (HAE), is a rare autosomal dominant disease due to alterations in the C1 inhibitor gene that results in a deficiency of antigenic and/or functional C1-INH. Affected patients are heterozygous, and their deficiency is incomplete, many of them having up to 20% of the normal amount of the inhibitor. The disease is characterised by recurrent, circumscribed, non-pitting, and non-pruritic subepithelial swellings of sudden onset, which fade during the course of 48-72 hours, but can persist up to 1 week. Lesions can be solitary or multiple and primarily involve the extremities, larynx, face, and bowel wall. Bradykinin is believed to be the main, but certainly not the sole, mediator responsible for the bouts of edema in HAE. The diagnosis is suggested by family history, the lack of accompanying pruritus or urticaria, the presence of recurrent gastrointestinal attacks of colics, and episodes of laryngeal edema. Diminished C4 concentrations during symptomatic periods are highly suggestive for the diagnosis. Further laboratory diagnosis depends on demonstrating a deficiency of C1-INH antigen (type I) in most kindreds, but some kindreds have an antigenically intact but dysfunctional protein (type II) and require a functional assay to establish the diagnosis. Prophylactic administration of either attenuated androgens or protease inhibitors has proved useful in reducing frequency or severity of attacks. Infusions of a vapour-heated C1-INH concentrate are safe and effective means of both preventing and treating attacks. Nevertheless, this treatment is expensive and this extract is not readily available. It is emphasised that administration of angiotensin converting enzyme inhibitors is contraindicated in patients suffering from protease inhibitor deficiency states.     

Hereditary hemorrhagic telangiectasia (HHT): a practical guide to management

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家族性膜性肾病三家系调查并文献复习

目的 报道我院近期收集的家族性膜性肾病3个家系,结合文献复习并与非家族患者的临床表现和病理改变比较,阐述家族性膜性肾病的特点。方法 选取我院经贤穿刺病理证实的家族性膜性肾病3个家系6例,文献（1969－2000年）报告的16个家系33例,并随机抽取我院同期收治的非家族性膜性肾病30例,对比此3组肾穿刺时患者的临床及病理特点。结果 与文献报告不同的是本组患者男女比例相近,发病年龄较大;的是病理分期均以Ⅱ,Ⅲ期膜性肾病多见;与原发性膜性肾病患者相比,本组病理改变Ⅱ,Ⅲ期者所占比例较多。结论 首次于国内报告家族性膜性肾病,与既往报告的家族性膜性肾病及我科非家族性膜性肾病比较,家族性膜性肾病患者除病理类型相对偏重以外,其他临床表现与非家族性患者相似。家族性膜性肾病的遗传机制目前尚不清楚。加强家系调查,提高临床医师的重视程度,将有助于发现更多的家族性膜性肾病病例。     

Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature

Hereditary hemorrhagic telangiectasia (HHT), also called Osler–Weber–Rendu syndrome, is an autosomal dominant genetic disease that affects the vasculature of numerous organs. The prevalence of HHT is estimated to be between 1.5 and 2 persons per 10,000. While there is still much to learn about this condition, there is an increasing understanding its underlying pathophysiology, genetic basis, presentations, and management. Recognizing that the clinical manifestations of HHT can involve a number of organ systems will provide clinicians with a higher index of suspicion for the disease. This early diagnosis and genotyping can greatly reduce mortality for a patient with HHT through appropriate screening for complications. This review will focus on the gastrointestinal manifestations of HHT and how these can dictate treatment and prognosis.     

Hereditary nonpolyposis colorectal cancer (lynch syndrome II) in Uruguay

PURPOSE: We updated an Uruguayan family with hereditary nonpolyposis colorectal cancer first described in 1977, incorporating knowledge of how thehMLH1 germline mutation has been established and shown to segregate in accord with the expected autosomal dominant mode of genetic transmission. METHODS: DNA-based molecular genetic testing was performed in conjunction with genetic counseling. Individuals were provided with their genetic test results, so that at-risk family members would be able to benefit from targeted management programs. RESULTS: We counseled 19 members of this kindred, 13 of whom were positive for thehMLH1 germline mutation. Specific recommendations for surveillance and management were provided. We were able to describe follow-up, including anecdotal cancer survival and pathology findings extending from the initial 1977 report of this family to the present. A remarkable sibship within this kindred was comprised of eight siblings, six of whom underwent resections for colorectal carcinoma between 1963 and 1971. Colon carcinomas before 1977 in this sibship were treated with classic hemicolectomies. Of those who had hemicolectomies for their first primary colorectal cancers, two had a second colon cancer primary, and two had a third colon cancer primary. CONCLUSIONS: Attention given to this extended family with hereditary nonpolyposis colorectal cancer has had a positive impact on the physician community in Uruguay, leading to the identification of additional families with hereditary nonpolyposis colorectal cancer.Supported by Grant #EDT-84 from the American Cancer Society, Grant #1RO1 CA74684-01 from the National Institutes of Health/National Cancer Institute, and a grant from the Nebraska State Cancer and Smoking-Related Diseases Research Program (LB595).