Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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
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Aminoaciduria
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Disorders of the renal phosphate transporters
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Monosacchariduria
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Proximal renal tubular acidosis
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Renal Hypouricemia
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SLC22A12
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SLC2A9
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| 1. |
None (2002) Acute renal failure with severe loin pain and patchy renal ischemia after anaerobic exercise in patients with or without renal hypouricemia. 
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| 2. |
Koepsell H et al. (2004) The SLC22 drug transporter family.
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| 3. |
None (2005) Uric acid elimination in the urine. Pathophysiological implications.
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| 4. |
Anzai N et al. (2005) Renal urate handling: clinical relevance of recent advances.
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| 5. |
None () Hereditary renal hypouricemia.
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| 6. |
None (2006) A case of renal hypouricemia caused by urate transporter 1 gene mutations.
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| 7. |
Maesaka JK et al. (1998) Regulation of renal urate excretion: a critical review.
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| 8. |
OMIM.ORG article Omim 220150
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