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高雪氏病为一常染色体隐性遗传的糖脂代谢异常的疾病.其特点为网状内皮系统细胞内有脑苷脂(或称角苷脂)的沉积.本病罕见,据Amstutz等三所医院的资料,在20年内仅发现20例.国内报导亦罕见,最近杨士元等综合14所医院20年来共发现46例;据统计(包括上述例数)我国自1948年以来报导总数仅72例,如加上同胞患者例数,共为84例.我院近年来发现二例,加上同胞患者共三例,均经骨髓涂片所证实.例1.女,10月.患儿因上腹部发现肿块
Gaucher’s disease is an autosomal recessive disease of abnormal glucose and lipid metabolism, which is characterized by deposition of cerebroside (or kariposide) in the cells of the reticuloendothelial system. This disease is rare and according to Amstutz et al. According to the statistics (including the above cases), only 72 cases have been reported in our country since 1948. According to the statistics (including the above cases), only 72 cases were reported in our hospital since 1948 , Such as with the number of patients with siblings, a total of 84 cases in our hospital in recent years found in two cases, with a total of three patients with siblings confirmed by bone marrow smear cases 1. Female, October. Abdomen found lumps