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首页> 外文期刊>Clinical kidney journal. >Hypouricaemia and hyperuricosuria in familial renal glucosuria
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Hypouricaemia and hyperuricosuria in familial renal glucosuria

机译:家族性肾糖尿症的低尿酸血症和尿酸尿过多

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摘要

Familial renal glucosuria is a rare co-dominantly inherited benign phenotype characterized by the presence of glucose in the urine. It is caused by mutations in the SLC5A2 gene that encodes SGLT2, the Na+-glucose cotransporter responsible for the reabsorption of the bulk of glucose in the proximal tubule. We report a case of FRG displaying both severe glucosuria and renal hypouricaemia. We hypothesize that glucosuria can disrupt urate reabsorption in the proximal tubule, directly causing hyperuricosuria.
机译:家族性肾性糖尿症是一种罕见的以遗传为主的良性表型,其特征是尿液中存在葡萄糖。它是由编码SGLT2的SLC5A2基因突变引起的,SGLT2是负责重新吸收近端肾小管中大部分葡萄糖的Na + -葡萄糖共转运蛋白。我们报告一例同时显示严重糖尿和肾低尿酸血症的FRG病例。我们假设,糖尿可破坏近端小管中的尿酸盐重吸收,直接引起尿酸尿过多。

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