<?xml version="1.1" encoding="utf-8"?>
<article xsi:noNamespaceSchemaLocation="http://jats.nlm.nih.gov/publishing/1.1/xsd/JATS-journalpublishing1-mathml3.xsd" dtd-version="1.1" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"><front><journal-meta><journal-id journal-id-type="publisher-id">MRP</journal-id><journal-title-group><journal-title>Medical Research and Practice</journal-title></journal-title-group><issn>2993-9690</issn><eissn>2993-9704</eissn><publisher><publisher-name>Art and Design</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.61369/MRP.2025040020</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title>T188K基因引发视觉症状克雅病1例及文献复习</title><url>https://artdesignp.com/journal/MRP/3/4/10.61369/MRP.2025040020</url><author>何东泽,张璇</author><pub-date pub-type="publication-year"><year>2025</year></pub-date><volume>3</volume><issue>4</issue><history><date date-type="pub"><published-time>2025-04-20</published-time></date></history><abstract>&amp;nbsp; &amp;nbsp; 目的 &amp;nbsp; &amp;nbsp;提高临床医生对于以视觉症状起病的遗传型克雅病患者的认识。方法 &amp;nbsp; &amp;nbsp;收集临床收治的一例以视觉症状为主的克雅病患者临床资料，并检索相关的文献，对其进行归纳总结并讨论。结果 &amp;nbsp; &amp;nbsp;患者女性，65岁，因视物颜色改变，视物变形就诊，入院后给予患者乙酰谷酰胺营养神经治疗，后完善相关的辅助检查后，确诊为一例遗传型克雅病患者，确诊后出院2个月时，患者死亡。结论 &amp;nbsp; &amp;nbsp;以视物变形，视物颜色改变的遗传型克雅病患者临床上并不常见，容易误诊、漏诊，通过本例病例可以提高临床医生对于此病的认识。</abstract><keywords>朊蛋白,克雅病,T118K,视觉,帕金森病</keywords></article-meta></front><body/><back><ref-list><ref id="B1" content-type="article"><label>1</label><element-citation publication-type="journal"><p>[1]高利萍, 肖康, 周伟, 等. 2020年中国克&amp;ndash;雅病监测网络病例特征分析[J]. 疾病监测, 2022,37(02):160-166.&amp;nbsp;[2]Bittar J, Joshi P, Genova J, et al. Creutzfeldt-Jakob Disease Presenting as Posterior Reversible Encephalopathy &amp;nbsp;Syndrome[J]. Cureus, 2020,12(3):e7211.DOI:10.7759/cureus.7211.&amp;nbsp;[3]Uttley L, Carroll C, Wong R, et al. Creutzfeldt-Jakob disease: a systematic review of global incidence, prevalence, &amp;nbsp;infectivity, and incubation[J]. Lancet Infect Dis,&amp;nbsp;2020,20(1):e2-e10.DOI:10.1016/S1473-3099(19)30615-2.&amp;nbsp;[4]Abrahantes J C, Aerts M, van Everbroeck B, et al. Classification of sporadic Creutzfeldt-Jakob disease based on clinical and &amp;nbsp;neuropathological characteristics[J]. Eur J Epidemiol, 2007,22(7):457-465.DOI:10.1007/s10654-007-9146-x.&amp;nbsp;[5]Harrington K, Abbott C C, Quinn D. Psychiatric Presentations of Creutzfeldt-Jakob Disease: A Case Report[J]. J Acad Consult Liaison Psychiatry, 2021,62(2):248-252.&amp;nbsp;DOI:10.1016/j.jaclp.2021.01.006.&amp;nbsp;[6]甄超, 张汉哲, 张维杰, 等. T188K突变遗传型克雅病1例[J]. 中国神经精神疾病杂志, 2021,47(03):158-160.&amp;nbsp;[7]Hermann P, Appleby B, Brandel J P, et al. Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease[J]. Lancet Neurol, 2021,20(3):235-246.&amp;nbsp;DOI:10.1016/S1474-4422(20)30477-4.&amp;nbsp;[8]Uslu F I, Elif G, Gursoy A E, et al. Creutzfeldt-Jakob Disease: A single center experience and systemic analysis of &amp;nbsp;cases in Turkey[J]. Ideggyogy Sz, 2020,73(0506):177-184.DOI:10.18071/isz.73.0177.&amp;nbsp;[9]Qi C, Zhang J T, Zhao W, et al. Sporadic Creutzfeldt-Jakob Disease: A Retrospective Analysis of 104 Cases[J]. Eur Neurol, 2020,83(1):65-72.DOI:10.1159/000507189.&amp;nbsp;[10]Gao L P, Shi Q, Xiao K, et al. The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, &amp;nbsp;genetic and laboratory features of 30 Chinese patients[J].&amp;nbsp;Sci Rep, 2019,9(1):1836.DOI:10.1038/s41598-019-38520-y.&amp;nbsp;[11]张进, 梅利平, 康浩浩. 52例散发性克雅病患者的脑电图特点分析[J]. 中风与神经疾病杂志, 2023,40(01):34-38.DOI:10.19845/j.cnki.zfysjjbzz.2023.0008.&amp;nbsp;[12]Abu-Rumeileh S, Baiardi S, Polischi B, et al. Diagnostic value of surrogate CSF biomarkers for Creutzfeldt-Jakob disease in the &amp;nbsp;era of RT-QuIC[J]. J Neurol,&amp;nbsp;2019,266(12):3136-3143.DOI:10.1007/s00415-019-09537-0.&amp;nbsp;[13]Leitao M J, Baldeiras I, Almeida M R, et al. Sporadic Creutzfeldt-Jakob disease diagnostic accuracy is improved by a new CSF &amp;nbsp;ELISA 14-3-3gamma assay[J]. Neuroscience, 2016,322:398-407.DOI:10.1016/j.neuroscience.2016.02.057.&amp;nbsp;[14]Schmitz M, Ebert E, Stoeck K, et al. Validation of 14-3-3 Protein as a Marker in Sporadic Creutzfeldt-Jakob Disease &amp;nbsp;Diagnostic[J]. Mol Neurobiol, 2016,53(4):21892199.DOI:10.1007/s12035-015-9167-5.</p><pub-id pub-id-type="doi"/></element-citation></ref></ref-list></back></article>
