此病最早被法国病理学家Philippe Gaucher认识,他认为在网状内皮系中的细胞是肿瘤性的.但疾病的家族性和临床过程不符合肿瘤性.作者对此病的兴趣开始于1960年对一位病人的观察.20年间发生了许多事情:作者发展一个简单的诊断方法,用人工底物测定外周血白细胞的酶的活力,通过羊水细胞内酶的测定可能用作产前诊断.正常人胎盘来源葡糖脑甙酶的纯化促进对此病的认识.对纯化酶的抗体使葡糖脑甙酶cDNA克隆化和测得其程序.许多引起此病的突变已被证实,较多见的二个是位于核苷酸1226和1448,1226的突变是轻型的,而1448突变的则较严重,发生神经和内脏症状.治疗至今收效不明显,标准的照顾依旧是修复损伤,骨折固定,关节置换,严重血小板减少进行全脾或部分脾切除,骨髓移植对疾病理论上有效,已有少数移植成功,移植结果具有启发性,表明疾病能逆转,这鼓励去寻找其他较少危险的冶疗.其中之一是 The disease was first recognized by the French pathologist Philippe Gaucher, who believed that the cells in the reticuloendothelial line were neoplastic but the familial and clinical course of the disease was not tumor-specific. The authors’ interest in the disease began in 1960 Observations of a patient. There have been many things in 20 years: The authors developed a simple diagnostic method using artificial substrates for the determination of the activity of peripheral leukocytes, which may be used as a prenatal diagnosis by intra-amniotic fluid enzyme assays. Purification of human placenta-derived gluconeosidase contributes to the understanding of this disease.Antibody against purified enzyme clones gluconeosidase cDNA and its program measured.Many mutations that have caused this disease have been confirmed, Of the two mutations at nucleotide 1226 and 1448,1226 were light, while mutations at 1448 were more severe with neurological and visceral symptoms. Treatment has so far failed to provide any significant benefit, and standard care is still used to repair injuries, fracture fixation, Joint replacement, severe thrombocytopenia for splenic or partial splenectomy, bone marrow transplantation is theoretically effective for the disease, a small number of transplants have been successful, the results of the transplant are instructive, suggesting that the disease can be reversed, which encourages the search for His cure is less dangerous. One of them is