Department of Human Genetics and Metabolic Diseases, Hadassah, Hebrew University Hospital, Jerusalem, Israel.
Am J Med Genet A. 2011 Mar;155A(3):574-6. doi: 10.1002/ajmg.a.33815. Epub 2011 Feb 22.
In Israel, Krabbe disease is frequent in two Moslem Arab villages in the Jerusalem area. In this paper we present our experience of almost four decades with diagnosis of Krabbe disease, carrier screening and prenatal diagnosis. The screening program is well accepted by the community, and there is a clear trend towards premarital testing. The screening program and prenatal diagnosis have led to a decrease in the incidence of Krabbe disease from 1.6 per 1,000 live births to 0.82 per 1,000.
在以色列,耶路撒冷地区的两个穆斯林阿拉伯村庄中,克拉伯病较为常见。本文介绍了我们近四十年在诊断克拉伯病、携带者筛查和产前诊断方面的经验。该筛查计划得到了社区的广泛认可,并且有明显的婚前检测趋势。该筛查计划和产前诊断使克拉伯病的发病率从每 1000 例活产儿 1.6 例下降到每 1000 例 0.82 例。