4例遗传型人类朊蛋白病临床资料分析
发布时间：2018-12-15 22:53
【摘要】：目的分析2011-2013年经河南省人民医院送检河南省疾控中心4例确诊遗传型人类朊蛋白病的临床资料,包括患者的起病形式、临床表现、脑电图、影像学表现、脑脊液14-3-3蛋白、朊蛋白基因等。进一步提高对遗传型人类朊蛋白病的认识及临床诊断准确率。 资料与方法回顾性分析2011-2013年经河南省人民医院送检河南省疾控中心4例确诊遗传型人类朊蛋白病的临床资料。 结果4例患者,男性0例,女性4例。年龄在44-72岁之间,平均年龄60.5岁。4例患者均为亚急性起病,起病前均未发现明显诱因。临床表现多样,2例以认知障碍起病,1例以睡眠障碍起病,1例以锥体外系症状起病。病情进展迅速,平均生存期10个月。1例有阳性家族史。均否认疫区居留史。本研究4例患者,V180I突变1例,D178N突变3例。其中V180I突变者表现为经典的CJD表型。3例D178N突变者,2例表现为CJD表型,1例表现为FFI表型。2例影像上表现为DWI序列上皮层或基底节异常信号,1例病人14-3-3蛋白阳性者。 结论 1.本研究4例患者均发现PRNP基因突变,其中V180I突变1例,D178N突变3例。 2.本研究4例患者,临床表现多样,2例以认知障碍起病,1例以睡眠障碍起病,1例以锥体外系症状起病。病情进展迅速,平均生存期10个月。 3.DWI序列上皮层或基底节异常信号,14-3-3蛋白阳性对朊蛋白病诊断有着重要的价值。
[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.
【学位授予单位】：新乡医学院
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R742.9
本文编号：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.
【学位授予单位】：新乡医学院
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R742.9
【共引文献】
相关期刊论文 前2条
1 曹化;仲玲玲;孙波;;脑电图和MR弥散加权成像对皮质-纹状体-脊髓变性的诊断价值(附3例报告)[J];临床神经病学杂志;2013年04期
2 朱永霞;;散发型克朊蛋白病1例诊断与护理体会[J];中国实用神经疾病杂志;2014年04期
相关硕士学位论文 前1条
1 朱书艳;朊蛋白和IGF-IGFBPs结构稳定性的分子动力学研究[D];河南大学;2014年
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