论文部分内容阅读
本文报告10例曾误诊为肝硬化、斑替综合征、慢性肝炎、肝昏迷等病的高雪病。10例病人经骨髓穿刺、病检、尸检均发现高雪细胞浸润。10例中3对为同胞,其中2例(兄弟两人)之父母为近亲婚配,其余8例按遗传学规律也属致病基因的携带者。这说明人群中本病及致病基因携带者并非十分罕见,尤其在一些被诊断为“特发性门静脉高压征”的病人中,很可能有本病的患者。因此建议:1、对不明
This article reports 10 cases have been misdiagnosed as cirrhosis, plaque replacement syndrome, chronic hepatitis, hepatic coma and other diseases of Gaucher disease. 10 patients were bone marrow puncture, disease examination, autopsy found that high snow cell infiltration. Three of the 10 cases were siblings. Two of the parents (siblings) were married to their relatives and the other eight were carriers of the causative genes according to the laws of genetics. This shows that the population of carriers of the disease and pathogenic genes is not very rare, especially in some patients diagnosed as “idiopathic portal hypertension”, the patient is likely to have the disease. So advice: 1, unknown