Renal hypouricemia is an autosomal recessive disorder caused by a defect of the renal urate transporter. As a result urates may accumulate in kidneys and predispose to nephrolithiasis. Also the elimination of metabolites of some pharmaceuticals can be disturbed.
Specific disturbances of proximal tubular transport | ||||
Aminoaciduria | ||||
Disorders of the renal phosphate transporters | ||||
Monosacchariduria | ||||
Proximal renal tubular acidosis | ||||
Renal Hypouricemia | ||||
SLC22A12 | ||||
SLC2A9 | ||||
1. |
None (2002) Acute renal failure with severe loin pain and patchy renal ischemia after anaerobic exercise in patients with or without renal hypouricemia. |
2. |
Koepsell H et al. (2004) The SLC22 drug transporter family. |
3. |
None (2005) Uric acid elimination in the urine. Pathophysiological implications. |
4. |
Anzai N et al. (2005) Renal urate handling: clinical relevance of recent advances. |
5. |
None () Hereditary renal hypouricemia. |
6. |
None (2006) A case of renal hypouricemia caused by urate transporter 1 gene mutations. |
7. |
Maesaka JK et al. (1998) Regulation of renal urate excretion: a critical review. |
8. |
OMIM.ORG article Omim 220150 |