Creutzfeldt-Jakob病24例的临床与病理分析

Clinical and pathological studies on twenty four cases of Creutzfeldt-Jakob disease

目的 研究国人老年Creutzfeldt Jakob病 (CJD)的若干特殊性。方法 对 2 4例经病理证实的CJD患者 ,其中老年组 6例 ,非老年组 1 8例。 1 0例进行免疫组化染色 ,1 0例进行PrP基因分析 ,7例进行实验鼠传递和 5例 1 4 3 3蛋白检测的CJD患者 ,分老年组 (≥ 60岁 )与非老年组 (<60岁 )进行对照研究。结果 老年组呈急性 (2 / 6)或亚急性发病 (4/ 6)者多 ,平均病程仅 7.1个月 ,首发症状多以沉默寡言开始 ,脑电图较早呈现特有改变 :周期性同步放电频度 (5/ 6)也较非老年组 (5/ 1 8)多。而海绵状变性、神经细胞脱失和星形胶质细胞增生 (两组分别是 6/ 6和 1 8/ 1 8) ,PrP沉积 (3/ 3、7/7) ,1 4 3 3蛋白检出 (2 / 2、3/ 3) ,实验动物传递 (2 / 2、3/ 3)等两组无差别 ,密码子 1 2 9甲硫氨酸纯合型老年组与非老年组分别是 3/ 3和 6/ 7,而杂合型 1例为非老年组。结论 认识国人老年CJD若干特殊性 ,对于早期诊断 ,减少漏诊 ,防止医源性传播有积极意义。

Objective To investigate the clinical and neuropathological characteristics of Creutzfeldt Jakob disease(CJD) of elderly patients in China. Methods Twenty four patients with CJD which were confirmed neuropathologically were divided into two groups, elderly group and non elderly group. Brain sections of 10 cases (elderly group 3 cases, non elderly group 7 cases) of 24 cases were given immunostaining with antiserum to a synthetic polypeptide of prion protein (PrP). PrP gene was analyzed in 10 cases (elderly 3, non elderly 7). 14 3 3 protein in CSF was detected in 5 cases (elderly 2, non elderly 3). The results of the two groups were comparatively analyzed. Experimental animal transmission was carried out using brain suspension from 7 patients, 2 cases from elderly group, 5 cases from non elderly group.Results In the elderly group, the frequency of the acute or subacute onset was higher, the average course lasted for 7.1 months. Silence and ataxia were more often in the beginning, the characteristic changes of periodic synchronic discharge in electroencephalography appeared earlier and frequency was higher (elderly 5 cases) than that in non elderly group (5 cases). Spongiform degeneration, loss of neurons and astrocytosis were seen in both groups. PrP deposition was found in 10 cases (elderly 3, non elderly 7), 14 3 3 protein was detected in 5 cases (elderly 2, non elderly 3). Homozygous methionine at codon 129 were found in 9 cases (elderly 3 cases, non elderly 6 cases), heterozygote in one cases(non elderly). Inoculated brain suspensions of 5 patients (2 from elderly group, 3 from non elderly group) caused the disease in experimental animal transmission. Conclusion There are special characteristics in clinical aspects of CJD in elderly group. Recognizing those characteristics can help us make the diagnosis early and correctly and reduce the iatrogenic infection.