The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.
The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.
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次黄嘌呤鸟嘌呤磷酸核糖转移酶缺乏症谱。
DOI：
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发表时间：
1973
期刊：
影响因子：
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通讯作者：
L. Thompson
中科院分区：
文献类型：
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作者：
B. Emmerson;L. Thompson
本文报告了5个家系8例次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HGPRT酶）缺乏症的临床表现。这些患者说明了相关神经系统表现的范围，以及由于相关尿酸盐过度产生而导致的各种表现和并发症。这样的研究允许发展一个统一的概念之间的原发性过量生产的尿酸盐和随后的发展尿酸结晶和结石，高尿酸血症，痛风性关节炎，肾功能不全。还比较了临床表现和红细胞溶血产物中HGPRT酶活性水平。虽然它可能已被预期的酶缺乏的程度将平行的临床表现，没有显着的相关性之间的临床严重程度的条件和红细胞中的酶活性。这表明，除了红细胞中存在的HGPRT酶活性的实际水平的其他因素是重要的，在确定这种情况下的神经系统病变和尿酸盐异常的严重程度。
The spectrum of clinical manifestations of hypoxanthine-guanine phosphoribosyltransferase (HGPRTase) deficiency is presented by reference to eight patients from five kindred. These patients illustrate the range of associated neurological findings, together with the variety of presentation and complications due to the associated over-production of urate. Such a study permits the development of a unifying concept between primary over-production of urate and the subsequent development of uric acid crystalluria and calculi, hyperuricaemia, gouty arthritis, and renal insufficiency. Comparison is also made between the clinical manifestations and the levels of HGPRTase activity assayed in red cell haemolysates. Although it might have been expected that the degree of enzyme deficiency would parallel the clinical manifestations, no significant correlation was found between the clinical severity of the condition and the enzyme activity in erythrocytes. It is suggested that additional factors besides the actual level of HGPRTase activity present in red cells are important in determining the severity of the neurological lesions and of the urate abnormality in this condition.