Hypouricemia - the simple key towards diagnosis in a case of purine nucleoside phosphorylase deficiency, a rare and severe disease /Hipouricemia - cheia c?tre diagnosticul unui caz de deficit de purin nucleozid fosforilaz?, o boal? rar? si sever?

Alexis-Virgil Cochino; Jean-Louis Pérignon; Mihaela B?t?nean?; Mihai Craiu; Ioan Gherghina; Margit ?erban

首页> 外文期刊>Romanian Journal of Laboratory Medicine >Hypouricemia - the simple key towards diagnosis in a case of purine nucleoside phosphorylase deficiency, a rare and severe disease /Hipouricemia - cheia c?tre diagnosticul unui caz de deficit de purin nucleozid fosforilaz?, o boal? rar? si sever?

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Hypouricemia - the simple key towards diagnosis in a case of purine nucleoside phosphorylase deficiency, a rare and severe disease /Hipouricemia - cheia c?tre diagnosticul unui caz de deficit de purin nucleozid fosforilaz?, o boal? rar? si sever?

机译：低尿酸血症-嘌呤核苷磷酸化酶缺乏症（一种罕见而严重的疾病）诊断的简单关键/低尿酸血症-诊断嘌呤核苷磷酸化酶缺乏症（一种疾病）的关键？很少？你严厉吗

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We describe the case of a 15 month old boy, investigated for repeated and prolonged infections, associated to progressive neurological impairment. Immunological work-up found low immunoglobulin levels and decreased numbers of T and B lymphocytes, with a T-B-NK+ phenotype. Imaging showed lack of thymus and cerebral cortex atrophy. The key towards the diagnosis was plasma uric acid determination: hypouricemia suggested purine nucleoside phosphorylase deficiency, a very rare disease, with only 67 reported cases worldwide. Diagnosis was confirmed by enzyme activity measured using a radioisotopic method.

机译：我们描述了一个15个月大男孩的案例，该男孩调查了与进行性神经系统损害相关的反复和长期感染。免疫学检查发现免疫球蛋白水平低，T和B淋巴细胞数量减少，具有T-B-NK +表型。影像学检查显示缺乏胸腺和大脑皮质萎缩。诊断的关键是血浆尿酸的测定：低尿酸血症提示嘌呤核苷磷酸化酶缺乏症，这是一种非常罕见的疾病，全世界仅报告67例。通过使用放射性同位素方法测量的酶活性来确认诊断。

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《Romanian Journal of Laboratory Medicine》 |2014年第3期|共3页
作者
Alexis-Virgil Cochino; Jean-Louis Pérignon; Mihaela B?t?nean?; Mihai Craiu; Ioan Gherghina; Margit ?erban;
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中图分类医药、卫生;
关键词
hypouricemiaprimary immunodeficiencysevere combined immunodeficiencypurine nucleoside phosphorylase deficiencyhipouricemieimunodeficien?? primar?imunodeficien?? sever? combinat?deficit de purin nucleozid fosforilaz?;

机译：低尿酸血症原发性免疫缺陷-严重合并免疫缺陷嘌呤核苷磷酸化酶缺乏症-ouricemieimunodeficien ??市长的免疫缺陷严重？合并嘌呤核苷磷酸化酶缺乏症;

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专利

1. Marked hypouricemia in purine nucleoside phosphorylase deficiency--serendipitous finding on screen. [J] . A M Bold, H A Simmonds, P M Timms Clinical Chemistry: Journal of the American Association for Clinical Chemists . 1996,第6期

机译：嘌呤核苷磷酸化酶缺乏症的明显低尿酸血症-在屏幕上偶然发现。
2. Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency [J] . SomechR., LevA., Grisaru-SoenG., Immunologic Research: A Selective Reference to Current Research and Practice . 2013,第1期

机译：嘌呤核苷磷酸化酶缺乏症表现为严重的联合免疫缺陷
3. 146 MOUSE MODELS OF PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY. CHARACTERIZATION OF PARTIALLY AND SEVERELY ENZYME DEFICIENT MUTANTS [J] . Floyd F Snyder, Ellen Mably, Ernest Fung Pediatric Research . 1988,第1期

机译：146种嘌呤核苷磷酸酶缺乏症的小鼠模型。表征部分和严重缺乏酶的突变体
4. Immune deficiency due to adenosine deaminase and purine nucleoside phosphorylase deficiency: a simple diagnostic test. [O] . J L Maddocks, S A Al-Safi, G Wilson 1984

机译：腺苷脱氨酶和嘌呤核苷磷酸化酶缺乏症引起的免疫缺陷：一种简单的诊断测试。
5. Hypouricemia - the simple key towards diagnosis in a case of purine nucleoside phosphorylase deficiency, a rare and severe disease /Hipouricemia - cheia către diagnosticul unui caz de deficit de purin nucleozid fosforilază, o boală rară si severă [O] . Cochino Alexis-Virgil, Pérignon Jean-Louis, Bătăneanţ Mihaela, 2014

机译：Hypouricemia - 在嘌呤核苷磷酸化酶缺乏症，一种罕见和严重的疾病/ Hipouricemia病例中诊断的简单关键 - cheiacătreincretiveulunui caz de deficit de purinnucleozidfosforilază，oboalărarăsiviipeă

Hypouricemia - the simple key towards diagnosis in a case of purine nucleoside phosphorylase deficiency, a rare and severe disease /Hipouricemia - cheia c?tre diagnosticul unui caz de deficit de purin nucleozid fosforilaz?, o boal? rar? si sever?

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