In the general public , gaucher disease affects approximately 1 in 100 , 000 persons 在通常情况下,戈谢病患者为1 / 100000 。
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Gaucher ( pronounced " go - shay " ) disease is an inherited illness caused by a gene mutation 戈谢病是一种由基因突变引起的疾病。
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According to the national gaucher foundation , 2500 americans suffer from gaucher disease 根据国际戈谢病组织统计, 2500美国人患有戈谢病。
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Gaucher disease can result in pain , fatigue , jaundice , bone damage , anemia , and even death 戈谢病会导致疼痛、疲劳、黄疸、骨髓的破坏、贫血甚至死亡。
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In people with gaucher disease , the body is not able to properly produce this enzyme , and the fat can not be broken down 在戈谢病患者体内,不能完全合成该酶,从而导致葡萄糖脑苷脂不能被降解。
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Among the ashkenazi jewish population , gaucher disease is the most common genetic disorder , with an incidence of approximately 1 in 450 persons 在德系犹太人中,戈谢病是最普遍的基因突变疾病,大约为1 / 450 。
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Enzyme replacement therapy can stop and often reverse the symptoms of gaucher disease , allowing patients to enjoy a better quality of life 酶替换疗法可以阻止和减缓戈谢病的病症,使病人能够更好地享受高质量的生活。
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Gaucher disease is considerably more common in the descendants of jewish people from eastern europe ( ashkenazi ) , although individuals from any ethnic group may be affected 戈谢病在东欧犹太人(德系犹太人)的后裔中相当普遍,虽然在相似民族中也存在类似个体。