6-phosphogluconate dehydrogenase deficiency in an Italian family
6-phosphogluconate dehydrogenase deficiency in an Italian family
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DOI：
10.1007/s002770000233
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发表时间：
2001-01-01
影响因子：
3.5
通讯作者：
Salvati, AM
中科院分区：
文献类型：
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作者：
Caprari, P;Caforio, MP;Salvati, AM
报告一个罕见的遗传性红细胞酶病，即6-磷酸葡萄糖酸脱氢酶（6PGD）缺乏症。先证者及其母亲的酶活性降低到35%，但家庭其他三名成员的酶活性正常。先证者的6PGD缺乏症与网织红细胞计数的变化和复发性非结合型血红蛋白血症的增加有关，而其母亲没有明显的临床或血液学症状。观察到红细胞丙酮酸激酶（PK）活性和还原型谷胱甘肽（GSH）水平升高，表明平均红细胞（RBC）年龄略有下降，还原系统活化。在先证者中观察到的伴有黄疸的偶发性溶血事件可能是红细胞抵抗明显氧化应激条件的能力缺陷的结果。在这份报告中，6PGD估计葡萄糖-6-磷酸脱氢酶（G6 PD）缺乏症的正确分析的重要性也被强调。事实上，在本研究中，如果在不校正6PGD活性的情况下进行G6 PD活性测定，则6PGD缺乏的存在可能被误认为是部分G6 PD缺乏。
A rare case of hereditary erythrocyte enzymopathy, namely 6-phosphogluconate dehydrogenase (6PGD) deficiency, was found in an Italian family. The activity of the enzyme was reduced to 35% in the propositus and her mother, but was normal in the other three members of the family. The 6PGD deficiency was associated with a variable reticulocyte count and recurrent increased unconjugated bilirubinemia without anemia in the propositus, while no clinical or hematological symptoms were evident in her mother. Increased levels of erythrocyte pyruvate kinase (PK) activity and reduced glutathione (GSH) were observed, indicating a slight decrease in mean red blood cell (RBC) age and an activation of reducing systems. The episodic hemolytic events with jaundice observed in the propositus may be the result of a defective RBC ability to counteract conditions of marked oxidative stress. In this report the importance of 6PGD estimation for a proper analysis of glucose-6-phosphate dehydrogenase (G6PD) deficiency is also highlighted. In fact in the present study, the presence of 6PGD deficiency could be mistaken for a partial G6PD deficiency if the assay of G6PD activity was performed without correcting for 6PGD activity.