本文選題：鼻出血　切入點(diǎn)：毛細(xì)血管擴(kuò)張　出處：《中國(guó)人民解放軍醫(yī)學(xué)院》2016年碩士論文

【摘要】：鼻出血是耳鼻咽喉頭頸外科常見(jiàn)急癥,而家族性、自發(fā)性、反復(fù)大量鼻出血是遺傳性出血性毛細(xì)血管擴(kuò)張癥(Hereditary hemorrhagic telangiectasia, HHT)最常見(jiàn)的臨床表現(xiàn)。鼻出血嚴(yán)重程度隨年齡增大而逐漸加重,患者常因嚴(yán)重貧血而需要反復(fù)輸血才能維持生命。HHT是一種以血管發(fā)育畸形為特征的常染色體顯性遺傳病,患病率約為1/5000,無(wú)性別差異,但種族差異明顯,約90%的患者未被正確診斷。HHT主要表現(xiàn)為反復(fù)發(fā)生的自發(fā)性鼻出血、胃腸道出血、皮膚黏膜毛細(xì)血管擴(kuò)張以及內(nèi)臟動(dòng)靜脈畸形。以往該病的診斷主要依靠臨床診斷,而目前基因診斷為該病早期診斷和確診提供了可能性。由于HHT臨床少見(jiàn),涉及耳鼻喉科、血液科、皮膚科、消化科、神經(jīng)內(nèi)科、呼吸內(nèi)科、婦產(chǎn)科等多個(gè)科室,多數(shù)接診醫(yī)生對(duì)該病認(rèn)識(shí)不足,極易造成漏診和誤診。目的：分析HHT誤診誤治情況,提高診治水平。應(yīng)用基因檢測(cè)方法,提高HHT客觀診斷水平,并早期確診HHT家系中無(wú)癥狀兒童及成年人。方法：收集自2014年3月至2016年3月就診于解放軍總醫(yī)院耳鼻咽喉頭頸外科門(mén)診的HHT先證者,回顧性分析其臨床表現(xiàn)、既往診治經(jīng)過(guò)、誤診誤治情況,同時(shí)對(duì)HHT先證者及其親屬進(jìn)行基因篩查,早期診斷或排除該病,并對(duì)其提供遺傳咨詢(xún)。結(jié)果：2014年3月至2016年3月我們課題組共確診11例HHT先證者,其中男性6例,女性5例,平均年齡52.72歲(28-68歲),均主訴反復(fù)自發(fā)性鼻出血前來(lái)我院就診,81.8%(9/11)為中重度鼻出血(ESS評(píng)分4分)；平均誤診時(shí)間26.18年(7-50年),多誤診為單純鼻出血和貧血而行對(duì)癥處理,02、03家系先證者誤診為造血系統(tǒng)疾病而行骨髓穿刺術(shù),02家系先證者誤診為子宮內(nèi)膜異位癥而行子宮切除術(shù),06家系先證者誤診為鼻甲血管瘤行鼻內(nèi)鏡下血管瘤切除術(shù)；2例需反復(fù)輸血治療,1例已行2次肺動(dòng)靜脈瘺栓塞術(shù),欲行肺葉切除術(shù),08家系兄弟姐妹5人均為HHT患者,2人罹患貧血性心臟病,其中1人已去世,其余HHT先證者目前無(wú)嚴(yán)重并發(fā)癥發(fā)生10個(gè)HHT家系共篩查出致病突變基因8例,08家系拒絕行基因檢測(cè),10家系尚未檢測(cè)到致病基因突變。臨床確診為HHT的患者突變基因檢出率為88.9%(8/9),其中ENG基因突變2例(25%), ACVRL1基因突變6例(75%), SMAD4基因突變0例(0%), ENG/ACVRL1比值為0.3；檢測(cè)到的ACVRL1基因突變類(lèi)型主要為錯(cuò)義突變(5例,83%),ENG基因突變均為無(wú)義突變(2例,100%);新發(fā)現(xiàn)致病突變3例,2例為ACVRL1基因突變,1例為ENG基因突變,均影響蛋白質(zhì)功能。通過(guò)基因檢測(cè),確診HHT家系無(wú)癥狀兒童或成年人5例,排除2例。結(jié)論：HHT是一涉及多器官、多系統(tǒng)的全身性疾病,但患者多因鼻出血而就診于耳鼻咽喉頭頸外科,因此首診醫(yī)師針對(duì)反復(fù)自發(fā)性鼻出血患者應(yīng)注意詢(xún)問(wèn)家族史并行皮膚黏膜體征檢查,以早期明確診斷,從而進(jìn)行多臟器篩查以早期治療,預(yù)防致命性并發(fā)癥的發(fā)生。同時(shí),基因檢測(cè)是針對(duì)該病最客觀的診斷方法,對(duì)于臨床確診、臨床疑診患者,HHT家系中無(wú)癥狀未成年人均應(yīng)行基因檢測(cè),以明確診斷或排除HHT。
[Abstract]:Epistaxis is a common emergency of Otolaryngology Head and neck surgery, and familial, spontaneous, is hereditary hemorrhagic telangiectasia with repeated hemorrhage (Hereditary hemorrhagic telangiectasia, a large number of nasal HHT) the most common clinical manifestations. Nasal bleeding severity gradually increased with the increase of age, patients often due to severe anemia and require repeated transfusion to maintain life is a kind of.HHT with vascular malformation characterized by autosomal dominant disease prevalence rate is about 1/5000, but no difference in sex, racial differences, about 90% of the patients were not correct diagnosis of.HHT mainly manifested as recurrent spontaneous bleeding of nasal mucosa, gastrointestinal bleeding, skin telangiectasia and visceral arteriovenous the deformity. The diagnosis mainly depends on clinical diagnosis, and the gene diagnosis for early diagnosis and diagnosis of the disease. The clinical HHT offers the possibility of less See, to the Department of ENT, Department of Hematology, Department of Dermatology, Department of Gastroenterology, respiratory medicine, neurology, obstetrics and gynecology department and other departments, the majority of doctors lack of awareness of the disease, easily lead to misdiagnosis. Objective: to analyze HHT misdiagnosis, improve the level of diagnosis and treatment. Method are applied to detect gene, improve HHT objective diagnosis the level of asymptomatic children and adults, and early diagnosis of HHT pedigree. Methods: collected from March 2014 to March 2016 in PLA General Hospital of Otolaryngology Head and neck surgery outpatient HHT probands, retrospective analysis of the clinical manifestations, previous diagnosis and treatment after misdiagnosis, while HHT probands and their relatives genetic screening, early diagnosis or exclusion of the disease, and provide genetic counseling for them. Results: from March 2014 to March 2016 our group a total of 11 cases were diagnosed HHT probands, there were 6 males and 5 females, the average age of 52.7 2宀，

本文編號(hào)：1683199