Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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.

Singal U et al. (1983) Essential thrombocythemia: a clonal disorder of hematopoietic stem cell.

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2.

Gaetani GF et al. (1982) Primary thrombocythemia: clonal origin of platelets, erythrocytes, and granulocytes in a GdB/GdMediterranean subject.

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3.

Fialkow PJ et al. (1981) Evidence that essential thrombocythemia is a clonal disorder with origin in a multipotent stem cell.

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4.

Lata K et al. (2010) JAK2 mutations and coronary ischemia.

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5.

Matsuo T et al. (1992) Hereditary heparin cofactor II deficiency and coronary artery disease.

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6.

Tran TH et al. (1985) Association of hereditary heparin co-factor II deficiency with thrombosis.

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7.

OMIM.ORG article

Omim 614521 external link
8.

Wikipedia article

Wikipedia EN (Thrombotic_microangiopathy) external link
Update: Aug. 14, 2020
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