Hodish I, Elstein D, Abrahamov A, Lonshakova N, Zimran A
Outpatient Clinic, Shaarei Zedek Medical Center, Jerusalem.
Harefuah. 1995 Jun 15;128(12):757-8, 824.
Gaucher's disease is frequent in the Ashkenazi Jewish population of Israel, with a gene frequency by molecular analysis of approximately 0.032, corresponding to a birth rate of 1:850. The recent immigration from the former Soviet Union brought more than 400,000 Jews, mostly of Ashkenazi descent. However, only a few cases of Gaucher's disease have been diagnosed. Possible explanations are lack of awareness of the signs of Gaucher's disease among Russian health workers and family practitioners in Israel, and a significantly lesser frequency of the Gaucher gene among Russian immigrants than among other Ashkenazi Jews in Israel and the US. We studied the frequency of the 1226G (N370S) mutation in a cohort of 202 recent immigrants from the former Soviet Union. We found 10 carriers (4.95%), indicating a decreased frequency of the Gaucher gene, but by extension, the probability of unidentified cases in need of treatment. Family practitioners should be aware of the possibility that heretofore misdiagnosed symptoms may be those of Gaucher's disease.
戈谢病在以色列的德系犹太人中很常见，通过分子分析其基因频率约为0.032，即发病率为1:850。最近从前苏联来的移民带来了40多万犹太人，其中大部分是德系犹太人后裔。然而，仅诊断出少数几例戈谢病。可能的解释是，以色列的俄罗斯卫生工作者和家庭医生对戈谢病的症状缺乏认识，以及俄罗斯移民中戈谢基因的频率明显低于以色列和美国的其他德系犹太人。我们研究了202名最近从前苏联来的移民队列中1226G（N370S）突变的频率。我们发现了10名携带者（4.95%），这表明戈谢基因的频率有所下降，但由此推断，可能存在未被识别的需要治疗的病例。家庭医生应该意识到，迄今为止被误诊的症状可能是戈谢病的症状。
