Takahashi Tsutomu, Tsuchida Satoko, Oyamada Tasuku, Ohno Tadashi, Miyashita Masahiro, Saito Seiji, Komatsu Kazuo, Takashina Kouei, Takada Goro
Department of Pediatrics, Akita University School of Medicine, 1-1-1 Hondo, Akita-shi, 010-8543, Akita, Japan.
Pediatr Nephrol. 2005 May;20(5):576-8. doi: 10.1007/s00467-005-1830-z. Epub 2005 Mar 17.
Recent identification of the urate transporter in the kidney (URAT1, encoded by SLC22A12) led to the molecular elucidation of idiopathic renal hypouricemia, which is a predisposition toward exercise-induce acute renal failure. One Japanese patient with renal hypouricemia demonstrated compound heterozygous mutations of the URAT1 gene (Q297X and IVS2+1G>A). It was suggested that these two mutations are recurrent mutations of the URAT1 gene in a Japanese population. In addition, we expect the prevalence of renal hypouricemia, 0.23%, from the analysis of serum urate levels in 1,730 Japanese children.
最近在肾脏中发现尿酸转运体（URAT1，由SLC22A12编码），这使得对特发性肾性低尿酸血症的分子机制有了阐明，特发性肾性低尿酸血症是运动诱发急性肾衰竭的一个易感因素。一名患有肾性低尿酸血症的日本患者表现出URAT1基因的复合杂合突变（Q297X和IVS2+1G>A）。有人提出这两种突变是日本人群中URAT1基因的反复突变。此外，通过对1730名日本儿童血清尿酸水平的分析，我们预计肾性低尿酸血症的患病率为0.23%。
