本文選題：CADASIL + 臨床特點(diǎn)��； 參考：《蘭州大學(xué)》2016年碩士論文

【摘要】：目的:本研究回顧性分析甘肅省1家系2例CADASIL患者的臨床資料并進(jìn)行文獻(xiàn)復(fù)習(xí),旨在加深臨床醫(yī)生對(duì)本病的認(rèn)識(shí),從而減低漏診率及誤診率,使更多患者在早期能得到及時(shí)有效的診治和護(hù)理,從而能夠改善CADASIL患者的預(yù)后。資料和方法:報(bào)告蘭州大學(xué)第二醫(yī)院神經(jīng)內(nèi)科診治的CADASIL患者的臨床資料2例,并以“伴皮質(zhì)下梗死和白質(zhì)腦病的常染色體顯性遺傳性腦動(dòng)脈病”和“CADASIL”為關(guān)鍵詞在國(guó)內(nèi)三個(gè)資料相對(duì)較全,范圍較廣的數(shù)據(jù)庫(kù):CNKI數(shù)據(jù)庫(kù)、維普及萬方數(shù)據(jù)庫(kù)里進(jìn)行文獻(xiàn)檢索(截止到2015年12月),共獲取確診的71例CADASIL病例資料,加上我們回顧分析的1家系2例病例,共73個(gè)病例,整理并分析所有患者的發(fā)病年齡、臨床癥狀、腦血管病危險(xiǎn)因素、實(shí)驗(yàn)室檢查、影像學(xué)表現(xiàn)、CADASIL量表、病理和基因檢測(cè)結(jié)果。結(jié)果:⑴病例報(bào)告,先證者,男,43歲,甘肅省天水市人,因“右側(cè)肢體無力、言語不利4月余”入院;病程為7年,期間反復(fù)發(fā)作缺血性腦卒中,且無高血壓、糖尿病、高脂血癥、高膽固醇血癥等動(dòng)脈硬化性危險(xiǎn)因素;頭顱MRI提示:雙側(cè)半卵圓中心可見多發(fā)性脫髓鞘病灶,雙側(cè)基底節(jié)區(qū)、半卵圓中心出現(xiàn)大量多發(fā)陳舊性梗塞病灶;CADASIL量表評(píng)分15分;皮膚病理活檢示:嗜鋨顆粒(GOM)沉積;基因檢測(cè)提示:NOTCH3基因4號(hào)外顯子錯(cuò)義突變。先證者之兄,其首發(fā)癥狀為偏頭痛,病程期間先兆性偏頭痛、缺血性腦卒中反復(fù)發(fā)作,并逐漸出現(xiàn)記憶力減退和情緒急躁;頭顱CT:皮質(zhì)下動(dòng)脈硬化性腦病,雙側(cè)腦室可見多發(fā)性腔梗灶,腦萎縮;CADASIL量表評(píng)分17分;基因檢測(cè)提示:NOTCH3基因4號(hào)外顯子錯(cuò)義突變;47歲時(shí)臥床不起,病故于肺部感染,病程34年。兩名患者最后均確診為CADASIL。⑵文獻(xiàn)復(fù)習(xí),報(bào)道病例71例及我院收治的2例共73例,男性39例(53.42%),女性為34例(46.58%),平均發(fā)病年齡:39.26±11.54歲,男性的平均發(fā)病年齡:36.89±10.00歲,女性為41.85±12.66歲。68例(93.15%)患者均無高血壓、高脂血癥、糖尿病、高膽固醇血癥等腦血管病的傳統(tǒng)危害因素。60例(82.19%)有明確的家族史。73個(gè)病例的常見臨床表現(xiàn)依次為腦缺血性卒中/TIA共50例(68.49%),認(rèn)知障礙33例(45.21%),偏頭痛23例(31.51%),精神癥狀15例(20.55%),癲癇發(fā)作2例(2.74%)、聽力障礙1例(1.37%)、急性意識(shí)障礙1例(1.37%),另有3例(4.11%)患者無任何臨床表現(xiàn)。70名患者的頭顱MRI顯示累及區(qū)域依次為:基底神經(jīng)節(jié)區(qū)41例(58.57%)、顳葉白質(zhì)區(qū)23例(32.86%)、額葉白質(zhì)區(qū)20例(28.57%)、頂葉白質(zhì)區(qū)18例(25.71%)、放射冠17例(24.29%)、腦干16例(22.86%)、半卵圓中心15例(21.43%)、側(cè)腦室12例(17.14%)、丘腦9例(12.86%)、外囊7例(10%)、枕葉白質(zhì)區(qū)6例(8.57%)、胼胝體3例(4.29%)、小腦2例(2.86%)、扣帶回1例(1.43%)、島葉1例(1.43%)、弓形纖維1例(1.43%)、大腦腳1例(1.43%)。73名患者中有48例是經(jīng)病理檢查確診,49例是經(jīng)基因檢測(cè)確診,其中24例是經(jīng)病理檢查和基因檢查共同確診的,其中有2名患者的病理檢查是陰性,但NOTCH3基因的檢測(cè)發(fā)現(xiàn)突變;49名患者常見的突變位點(diǎn)依次為4外顯子25例(51.02%)、3外顯子15例(30.61%)、11外顯子6例(12.24%)、14外顯子1例(2.04%)、18外顯子1例(2.04%)及3內(nèi)含子1例(2.04%)。結(jié)論:1.我國(guó)CADASIL患者多于中青年期起病,常有明確的家族史,且一般無腦血管病的傳統(tǒng)危險(xiǎn)因素;最常見的臨床表現(xiàn)為腦卒中、認(rèn)知能力減退及癡呆;頭顱MRI顯示多發(fā)性腔隙性梗塞灶和彌漫性腦白質(zhì)病變,主要累及區(qū)域?yàn)榛坠?jié)、顳葉、額葉和頂葉白質(zhì)區(qū)等。2.CADASIL量表可作為一種簡(jiǎn)單有效的篩查工具應(yīng)用于臨床診斷。3.確診該病需病理檢查或(和)基因檢測(cè),并且二者具有較高的一致性,臨床上常用的腦外組織活檢為皮膚肌肉活檢。4.CADASIL的責(zé)任基因是位于第19號(hào)染色體短臂上的NOTCH3基因,國(guó)內(nèi)患者N OTCH3基因突變的熱點(diǎn)依次是4、3、11號(hào)外顯子。5.CADASIL為一種特殊的常顯性遺傳的腦血管病,尚無特殊治療,預(yù)后差。
[Abstract]:Objective: To review and analyze the clinical data of 2 cases of CADASIL in 1 families in Gansu province and review the literature. The purpose of this study is to deepen the understanding of the disease by clinicians so as to reduce the rate of missed diagnosis and misdiagnosis, so that more patients can get timely and effective diagnosis and treatment and nursing, and can improve the prognosis of CADASIL patients. The clinical data of 2 patients with CADASIL in the Department of Neurology in Second Hospital Affiliated to Lanzhou University were reported. With the key words of "autosomal dominant hereditary cerebral arteriopathy with subcortical infarction and white encephalopathy" and "CADASIL" as the key words, the data base of the three data in China was relatively wide and wide: the CNKI database, VIP and Wanfang database A total of 71 confirmed cases of CADASIL cases were obtained by literature retrieval (until December 2015). A total of 73 cases, including 2 cases in 1 families, were reviewed and analyzed. The age of onset, clinical symptoms, risk factors of cerebrovascular disease, laboratory examination, imaging performance, CADASIL scale, pathology, and gene detection results were analyzed and analyzed. Results: (1) case report, first evidence, male, 43 years old, Tianshui people in Gansu Province, hospitalized for "the right limb weakness, unfavourable speech of 4 months"; the course was 7 years, and repeated episodes of ischemic stroke, without hypertension, diabetes, hyperlipidemia, hypercholesterolemia and other atherosclerotic risk factors; head MRI hints: bilateral hemicovale center can be See multiple demyelinating lesions, bilateral basal ganglia, and semi oval center appear a large number of multiple old infarcts; CADASIL scale score 15; skin pathological biopsy: osmium granules (GOM) deposition; gene detection: NOTCH3 gene 4 exon missense mutation. The first syndrome of the first syndrome is migraine, and the premonitory deviation during the course of the disease Headache, recurrent episodes of ischemic stroke, and progressive memory impairment and emotional irritable; head CT: subcortical arteriosclerotic encephalopathy, bilateral ventricles of cerebral infarction, cerebral atrophy, CADASIL scale score 17; gene detection: NOTCH3 gene 4 exon missense mutation; 47 years old in bedridden, sick in the lung infection, disease, disease, disease, disease The last 34 years. Two patients were finally diagnosed as CADASIL. (2) literature review, reported that 71 cases and 2 cases in our hospital were 73 cases, 39 men (53.42%) and 34 women (46.58%). The average age of onset was 39.26 + 11.54 years, the average age of male was 36.89 + 10 years, and the women were none of hypertension and high fat. The traditional risk factors of cerebral vascular disease such as hypercholesterolemia, diabetes, hypercholesterolemia,.60 cases (82.19%) there was a clear family history of.73 cases, the common clinical manifestations were cerebral ischemic stroke in 50 cases (68.49%), cognitive impairment in 33 cases (45.21%), migraine 23 cases (31.51%), 15 cases of mental symptoms (20.55%), 2 cases of epileptic seizures (2.74%), hearing impairment 1 Cases (1.37%), 1 cases of acute disturbance of consciousness (1.37%), and 3 cases (4.11%) without any clinical manifestation of.70, the area of MRI in the head was followed by the basal ganglia area 41 cases (58.57%), the temporal lobe white matter 23 cases (32.86%), the white matter area of the frontal lobe 20 cases (28.57%), the white matter of the parietal lobe (25.71%), the radial crown 17 cases, the brainstem cases, 15 cases (21.43%), 12 cases (17.14%) of lateral ventricle, 9 cases of thalamus (12.86%), 7 cases of outer capsule (10%), 6 cases of white matter in occipital lobe (8.57%), 3 cases of corpus callosum (4.29%), 2 cases of cerebellum (4.29%), recurrent cases of cingulate gyrus, cases of arched fiber dimension,.73 patients were confirmed by pathological examination. 24 of them were confirmed by the pathological examination and gene examination, of which 2 were negative, but the NOTCH3 gene was detected. The common mutation sites in 49 patients were 4 exon 25 (51.02%), 3 exon 15 (30.61%), 11 exon (12.24%), 14 exons in 6. 1 cases (2.04%) and 3 introns (2.04%) were found. 1. in China, there were more CADASIL patients in China than in the middle and young patients. They often have a clear family history and usually have no traditional risk factors for cerebrovascular disease. The most common clinical manifestations are cerebral apoplexy, cognitive impairment and dementia; head MRI shows multiple lacunar infarcts and diffuse white matter disease. .2.CADASIL scales, such as basal ganglia, temporal lobe, frontal and parietal white matter area, can be used as a simple and effective screening tool for clinical diagnosis of.3., which requires pathological examination or (and) gene detection, and the two have high consistency. The common biopsy of external brain tissue on the bed is the skin muscle biopsy.4.CAD. The ASIL gene is the NOTCH3 gene located on the short arm of chromosome nineteenth. The hot spot of N OTCH3 mutation in domestic patients is 4,3,11 exon.5.CADASIL as a special and frequently inherited cerebrovascular disease. There is no special treatment, and the prognosis is poor.
【學(xué)位授予單位】：蘭州大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2016
【分類號(hào)】：R743

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