2006-2010年陕西省克雅氏病监测病例特征分析

目的 了解陕西省克雅氏病(Creutzfeldt-Jakob disease,CJD)的发病情况、临床表现及流行病学特征.方法 对2006-2010年陕西省临床医院报告的42例可疑CJD病例的临床及流行病学资料进行分析,收集了42份血液标本、41份脑脊液及1份脑组织样品,利用免疫印迹(western blot,WB)方法检测脑组织的异常折叠朊蛋白(prion protein scrapie,PrPsc)和脑脊液的14-3-3蛋白,提取全血基因组DNA并利用聚合酶链式反应(polymerase chain reaction,PCR)及测序方法对血液中朊蛋白(Prion protein,PRNP或PrP)基因进行129位多态性及基因突变分析.结果 共发现散发型CJD临床诊断病例18例,疑似诊断病例3例,家族型CJD 2例.病例的地理分布和职业无明显聚集性;临床诊断病例发病平均年龄55.9岁,男女比例1.25∶1;快速进行性痴呆为最常见的首发症状,占全部诊断病例的34.78％.结论 陕西监测到的CJD病例以散发型为主,病例的地理分布、职业、性别比例以及平均年龄均符合散发型CJD的分布特点.随访有助于CJD正确诊断.

Study on the characteristics of patients with Creutzfeld-Jakob disease in Shaanxi Province, 2006-2010

Objective To describe the epidemiological and clinical characteristics of Creutzfeldt-Jakob disease (CJD) in Shaanxi Province.Methods Clinical and epidemical data on 42 suspected CJD patients from clinical hospitals in Shaanxi from 2006 to 2010 was analyzed.42 blood samples,41 cerebral spinal fluid (CSF) specimens and 1 brain tissue from these patients were collected.Western blot assay was used to detect PrPsc in brain tissue and 14-3-3 protein in CSF.PCR and sequencing were used for analyzing the polymorphism of 129 amino acids and mutation of PRNP gene.Results A total number of 18 probable and three possible sporadic CJD patients,two familial CJD cases were identified.No geographic-or occupational-related events were observed among these cases.The mean age of onset was 55.9 years old,the fender ratio was 1.25 ∶ 1.Rapid progressive dementia was the main symptom,presenting in 34.78 percent of the CJD patients.Conclusions This report indicates that the main type of CJD in Shaanxi Province is sporadic CJD with its distinctive characteristics including geography distribution,occupation,gender ratio and the average of onset.Follow-up visits to probable and possible CJD patients may contribute to a proper diagnosis.