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人红细胞酶病的临床表现差异很大,某些酶病如乙二醛酶Ⅱ缺乏,没有明显的血液学或其他方面的临床表现。另一些酶病,也没有血液学表现,但红细胞却有着与致成其它组织显著机能障碍相同的某种异常。属于这类的有见于一种痛风的次黄嘌呤转磷酸核糖基酶部分缺乏和伴免疫低下的腺苷脱氨酶缺乏。某些先天异常可以导致除溶血性贫血之外的其他血液学疾患。例如遗传性磷酸核糖焦磷酸激酶(PRPP)合成酶缺乏,其特点为巨幼细胞性贫血,智力低下及低尿酸血症。本综述将限于伴有非血液系疾患的酶病性溶血综合征。多系
The clinical manifestations of human erythrocyte enzyme disease vary greatly, some enzymes such as glyoxalase II deficiency, no significant hematology or other aspects of clinical manifestations. Other enzyme diseases, there is no hematological manifestations, but the erythrocytes have some of the same abnormalities that cause significant dysfunction in other tissues. There is a partial deficiency of hypoxanthine transphosphates found in one type of gout and a deficiency of adenosine deaminase associated with immunosuppression. Some of the congenital anomalies can lead to other hematologic disorders other than hemolytic anemia. For example, the inherited phosphofructose pyrophosphate kinase (PRPP) synthetase deficiency, which is characterized by megaloblastic anemia, mental retardation and hypouria. This review will be limited to the enzyme hemolysis syndrome associated with non-hematologic disorders. Multi-line