Konstantopoulos K, Kanta E, Papadopoulos V, Kaklamanis P, Hatzinikolaou M, Kalotychou V, Kanta A, Kapsimali V, Vaiopoulos G
First Department of Medicine, University of Athens School of Medicine at Laikon Hospital, Athens, Greece.
West Indian Med J. 2012 Jan;61(1):28-31. doi: 10.7727/wimj.2011.041.
It is known that clinical similarities between Behcet's disease and Familial Mediterranean Fever have led to the hypothesis of a common pathogenesis. Familial Mediterranean Fever is caused by MEFV gene mutations coding for pyrin. Therefore, we examined whether these pyrin mutations are also associated with Behcet's disease.
Molecular testing for pyrin mutations was performed in 96 unrelated Greek patients with an established diagnosis of Behcets disease. The results were compared with an analysis for pyrin mutations in 140 unrelated healthy Greek controls.
We found no pyrin mutations among the Behcet cases tested; this result is comparable with the control group.
Pyrin gene mutations in Greek patients with Behcet's disease are not more common than those in the general population. This finding is not in agreement with the findings in other populations. It is suggested that screening for pyrin mutations not be included in the evaluation of Greeks suspected to have Behcet's disease.
已知白塞病与家族性地中海热之间的临床相似性引发了关于共同发病机制的假说。家族性地中海热由编码吡啉的MEFV基因突变引起。因此，我们研究了这些吡啉突变是否也与白塞病相关。
对96名确诊为白塞病的无亲缘关系的希腊患者进行了吡啉突变的分子检测。将结果与140名无亲缘关系的健康希腊对照者的吡啉突变分析结果进行比较。
在检测的白塞病病例中未发现吡啉突变；这一结果与对照组相当。
希腊白塞病患者中的吡啉基因突变并不比普通人群更常见。这一发现与其他人群的研究结果不一致。建议对疑似白塞病的希腊人进行评估时不包括吡啉突变筛查。
