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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