4例遺傳型人類朊蛋白病臨床資料分析
發(fā)布時(shí)間：2018-12-15 22:53
【摘要】：目的分析2011-2013年經(jīng)河南省人民醫(yī)院送檢河南省疾控中心4例確診遺傳型人類朊蛋白病的臨床資料,包括患者的起病形式、臨床表現(xiàn)、腦電圖、影像學(xué)表現(xiàn)、腦脊液14-3-3蛋白、朊蛋白基因等。進(jìn)一步提高對(duì)遺傳型人類朊蛋白病的認(rèn)識(shí)及臨床診斷準(zhǔn)確率。 資料與方法回顧性分析2011-2013年經(jīng)河南省人民醫(yī)院送檢河南省疾控中心4例確診遺傳型人類朊蛋白病的臨床資料。 結(jié)果4例患者,男性0例,女性4例。年齡在44-72歲之間,平均年齡60.5歲。4例患者均為亞急性起病,起病前均未發(fā)現(xiàn)明顯誘因。臨床表現(xiàn)多樣,2例以認(rèn)知障礙起病,1例以睡眠障礙起病,1例以錐體外系癥狀起病。病情進(jìn)展迅速,平均生存期10個(gè)月。1例有陽性家族史。均否認(rèn)疫區(qū)居留史。本研究4例患者,V180I突變1例,D178N突變3例。其中V180I突變者表現(xiàn)為經(jīng)典的CJD表型。3例D178N突變者,2例表現(xiàn)為CJD表型,1例表現(xiàn)為FFI表型。2例影像上表現(xiàn)為DWI序列上皮層或基底節(jié)異常信號(hào),1例病人14-3-3蛋白陽性者。 結(jié)論 1.本研究4例患者均發(fā)現(xiàn)PRNP基因突變,其中V180I突變1例,D178N突變3例。 2.本研究4例患者,臨床表現(xiàn)多樣,2例以認(rèn)知障礙起病,1例以睡眠障礙起病,1例以錐體外系癥狀起病。病情進(jìn)展迅速,平均生存期10個(gè)月。 3.DWI序列上皮層或基底節(jié)異常信號(hào),14-3-3蛋白陽性對(duì)朊蛋白病診斷有著重要的價(jià)值。
[Abstract]:Objective to analyze the clinical data of 4 cases of hereditary human prion disease diagnosed by the Center for Disease Control and Prevention of Henan Province from 2011 to 2013, including the onset, clinical manifestations, electroencephalogram (EEG) and imaging findings of the patients. Cerebrospinal fluid 14-3-3 protein, prion protein gene and so on. Further improve the recognition of hereditary human prion disease and clinical diagnosis accuracy. Materials and methods the clinical data of 4 cases of hereditary human prion disease diagnosed by the Center for Disease Control and Prevention of Henan Province from 2011 to 2013 were analyzed retrospectively. Results four patients, male 0, female 4. The age ranged from 44 to 72 years, with an average age of 60.5 years. All the 4 patients had subacute onset, and no obvious inducement was found before onset. The clinical manifestations were varied, 2 cases with cognitive impairment, 1 case with sleep disorder and 1 case with extrapyramidal symptoms. The average survival time was 10 months. 1 case had positive family history. The resident history of the epidemic area was denied. In this study, there were 4 patients with V180 I mutation and 3 with D 178 N mutation. Among them, V180I mutants showed classic CJD phenotype, 3 D178N mutants, 2 CJD phenotypes, 1 FFI phenotype, 2 DWI sequence epithelial layer or basal ganglia abnormal signals. One patient was 14-3-3 protein positive. Conclusion 1. In this study, PRNP gene mutations were found in all 4 patients, including V180I mutation in 1 case and D178N mutation in 3 cases. 2. In this study, 4 patients with multiple clinical manifestations, 2 patients with cognitive disorders, 1 with sleep disorders, 1 with extrapyramidal symptoms. The average survival time was 10 months. The abnormal signal of epithelial layer or basal ganglia of 3.DWI sequence and 14-3-3 protein positive have important value in the diagnosis of prion disease.
【學(xué)位授予單位】：新鄉(xiāng)醫(yī)學(xué)院
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2014
【分類號(hào)】：R742.9
本文編號(hào)：2381414
[Abstract]:Objective to analyze the clinical data of 4 cases of hereditary human prion disease diagnosed by the Center for Disease Control and Prevention of Henan Province from 2011 to 2013, including the onset, clinical manifestations, electroencephalogram (EEG) and imaging findings of the patients. Cerebrospinal fluid 14-3-3 protein, prion protein gene and so on. Further improve the recognition of hereditary human prion disease and clinical diagnosis accuracy. Materials and methods the clinical data of 4 cases of hereditary human prion disease diagnosed by the Center for Disease Control and Prevention of Henan Province from 2011 to 2013 were analyzed retrospectively. Results four patients, male 0, female 4. The age ranged from 44 to 72 years, with an average age of 60.5 years. All the 4 patients had subacute onset, and no obvious inducement was found before onset. The clinical manifestations were varied, 2 cases with cognitive impairment, 1 case with sleep disorder and 1 case with extrapyramidal symptoms. The average survival time was 10 months. 1 case had positive family history. The resident history of the epidemic area was denied. In this study, there were 4 patients with V180 I mutation and 3 with D 178 N mutation. Among them, V180I mutants showed classic CJD phenotype, 3 D178N mutants, 2 CJD phenotypes, 1 FFI phenotype, 2 DWI sequence epithelial layer or basal ganglia abnormal signals. One patient was 14-3-3 protein positive. Conclusion 1. In this study, PRNP gene mutations were found in all 4 patients, including V180I mutation in 1 case and D178N mutation in 3 cases. 2. In this study, 4 patients with multiple clinical manifestations, 2 patients with cognitive disorders, 1 with sleep disorders, 1 with extrapyramidal symptoms. The average survival time was 10 months. The abnormal signal of epithelial layer or basal ganglia of 3.DWI sequence and 14-3-3 protein positive have important value in the diagnosis of prion disease.
【學(xué)位授予單位】：新鄉(xiāng)醫(yī)學(xué)院
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2014
【分類號(hào)】：R742.9
【共引文獻(xiàn)】
相關(guān)期刊論文 前2條
1 曹化;仲玲玲;孫波;;腦電圖和MR彌散加權(quán)成像對(duì)皮質(zhì)-紋狀體-脊髓變性的診斷價(jià)值(附3例報(bào)告)[J];臨床神經(jīng)病學(xué)雜志;2013年04期
2 朱永霞;;散發(fā)型克朊蛋白病1例診斷與護(hù)理體會(huì)[J];中國實(shí)用神經(jīng)疾病雜志;2014年04期
相關(guān)碩士學(xué)位論文 前1條
1 朱書艷;朊蛋白和IGF-IGFBPs結(jié)構(gòu)穩(wěn)定性的分子動(dòng)力學(xué)研究[D];河南大學(xué);2014年
，本文編號(hào)：2381414
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