Inazu T
Department of Clinical Research, Saigata National Hospital, Niigata, Japan.
Clin Nephrol. 2006 May;65(5):370-3. doi: 10.5414/cnp65370.
Hypouricemia is a common disorder in the general population. Herein, renal hypouricemia caused by human urate transporter 1 (hURAT1) gene mutations in a Japanese patient with intellectual disability is reported. She had compound heterozygous mutations in this gene (W258X and IVS2+1G>A), nevertheless, she showed no clinical manifestations such as urolithiasis and exercise-induced acute renal failure. Restriction enzyme analysis with HphI was useful to screen the IVS2+1G>A mutation in hURAT1 gene.
低尿酸血症在普通人群中是一种常见病症。在此，报告了一名患有智力障碍的日本患者因人类尿酸转运蛋白1（hURAT1）基因突变导致的肾性低尿酸血症。她在该基因中存在复合杂合突变（W258X和IVS2+1G>A），然而，她并未表现出如尿路结石和运动诱发的急性肾衰竭等临床表现。用HphI进行的限制性酶切分析有助于筛查hURAT1基因中的IVS2+1G>A突变。
