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|
|Disorders of the renal phosphate transporters|
|Proximal renal tubular acidosis|
None (2002) Acute renal failure with severe loin pain and patchy renal ischemia after anaerobic exercise in patients with or without renal hypouricemia.
Koepsell H et al. (2004) The SLC22 drug transporter family.
None (2005) Uric acid elimination in the urine. Pathophysiological implications.
Anzai N et al. (2005) Renal urate handling: clinical relevance of recent advances.
None () Hereditary renal hypouricemia.
None (2006) A case of renal hypouricemia caused by urate transporter 1 gene mutations.
Maesaka JK et al. (1998) Regulation of renal urate excretion: a critical review.
OMIM.ORG articleOmim 220150