Adenine phosphoribosyltransferase deficiency in Iceland.
Adenine phosphoribosyltransferase deficiency in Iceland.
复制标题
冰岛腺嘌呤磷酸核糖转移酶缺乏症。
DOI：
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复制
发表时间：
2009
影响因子：
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通讯作者：
Tómas Á. Jónasson
中科院分区：
文献类型：
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作者：
Thröstur Laxdal;Tómas Á. Jónasson
四个不相关家庭的两名儿童和两名成人定期接受光学显微镜检查，发现呈现出相同的球形尿液晶体。它们的特征性外观导致通过分光光度或气相色谱/质谱分析诊断为 2,8-二羟基腺嘌呤结晶尿。通过直接测量裂解红细胞中的酶活性证实腺嘌呤磷酸核糖基转移酶完全缺乏。近亲家庭成员也接受了酶缺陷检查，结果显示 14 名亲属中没有发现其他纯合子，但有 13 名杂合子。我们建议，即使没有射线可透的肾结石，圆形、棕色的尿液晶体也应提醒医生检查是否存在 2,8-二羟基腺嘌呤。然后可以立即采取适当的治疗，防止最终的肾脏损害。
Two children and two adults of four unrelated families were on regular light microscopic examination found to exhibit identical, spherical urine crystals. Their characteristic appearance led to the diagnosis of 2,8-dihydroxyadenine crystalluria by spectrophotometric or gas-chromatographic/mass-spectrometric analysis. Total deficiency of adenine phosphoribosyltransferase was confirmed by direct measurements of the enzyme activity in lysed red blood cells. Close family members were also examined for the enzyme defect, revealing no additional homozygotes, but 13 heterozygotes among 14 relatives. We suggest that round, brownish urine crystals, even without radiolucent kidney stones, should alert the physician to search for the existence of 2,8-dihydroxyadenine. Proper treatment could then be instituted without delay, preventing eventual kidney damage.