Recurrent URAT1 gene mutations and prevalence of renal hypouricemia in Japanese
- First Online:
- Cite this article as:
- Takahashi, T., Tsuchida, S., Oyamada, T. et al. Pediatr Nephrol (2005) 20: 576. doi:10.1007/s00467-005-1830-z
- 117 Downloads
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.