家族性地中海热患者中的快速进展型克雅氏病。
Rapidly progressive Creutzfeldt-Jakob disease in patients with Familial Mediterranean Fever.
机构信息
Department of Neurology, The Sagol Neuroscience Center at the Chaim Sheba Medical Center affiliated to the Sackler Faculty of Medicine, Tel-Aviv University, Tel-Hashomer, Israel.
出版信息
Eur J Neurol. 2010 Jun 1;17(6):861-5. doi: 10.1111/j.1468-1331.2010.02948.x. Epub 2010 Jan 20.
BACKGROUND
The largest cluster of familial Creutzfeldt-Jakob disease (fCJD) exists in Jews of Libyan origin. Familial Mediterranean fever (FMF) is an inflammatory disease also common in this population.
OBJECTIVES
We hypothesized that FMF, as a pro-inflammatory condition, may affect the course of CJD.
METHODS
Three hundred and seventy-two consecutive patients diagnosed clinically and genetically as CJD were included in the study. Two hundred and thirty-six had fCJD, and 136 had sporadic disease (sCJD). Review of the patient's records revealed three patients with FMF-CJD co-morbidity. In addition, 50 DNA samples of patients with CJD were genotyped as homozygote, heterozygote, and non-carriers of the FMF mutation. The demographic and clinical variables of the groups were compared.
RESULTS
The three patients with FMF had an earlier age of onset and significantly shorter disease duration than the patients without FMF. Heterozygote carriers did not differ in disease onset and duration from patients without FMF.
CONCLUSIONS
The shorter disease duration of CJD patients with FMF may indicate the importance of pro-inflammatory factors in the disease.
背景
最大的家族性克雅氏病（fCJD）集群存在于具有利比亚血统的犹太人中。家族性地中海热（FMF）也是该人群中常见的炎症性疾病。
目的
我们假设 FMF 作为一种促炎状态，可能会影响 CJD 的病程。
方法
本研究纳入了 372 例连续临床和基因诊断为 CJD 的患者。其中 236 例为 fCJD，136 例为散发性疾病（sCJD）。回顾患者的病历记录，发现有 3 例 FMF-CJD 合并症患者。此外，对 50 例 CJD 患者的 DNA 样本进行了 FMF 突变的纯合子、杂合子和非携带者的基因分型。比较了各组的人口统计学和临床变量。
结果
这 3 例合并 FMF 的患者的发病年龄更早，疾病持续时间明显更短。杂合子携带者与无 FMF 的患者在发病和持续时间上没有差异。
结论
FMF 的 CJD 患者的疾病持续时间更短，这可能表明促炎因素在疾病中的重要性。
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