Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Renal Hypouricemia

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.

Systematic

Specific disturbances of proximal tubular transport
Aminoaciduria
Disorders of the renal phosphate transporters
Monosacchariduria
Proximal renal tubular acidosis
Renal Hypouricemia
SLC22A12
SLC2A9

References:

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 external link
Update: Aug. 14, 2020
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