Familial renal hypouricemia

Common Name(s)

Familial renal hypouricemia

Renal hypouricemia is characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells. The syndrome is not lethal and may be asymptomatic. However, it is accompanied by nephrolithiasis and exercise-induced acute renal failure in about 10% of patients ({9:Ichida et al., 2008}). Genetic Heterogeneity of Renal Hypouricemia See also RHUC2 ({612076}), which is caused by mutation in the SLC2A9 gene ({606142}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial renal hypouricemia" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Familial renal hypouricemia" returned 1 free, full-text research articles on human participants. First 3 results:

Normal urate transport into erythrocytes in familial renal hypouricemia and in the Dalmatian dog.
 

Author(s): P Vinay, A Gattereau, B Moulin, A Gougoux, G Lemieux

Journal: Can Med Assoc J. 1983 Mar;128(5):545-9.

 

It has been hypothesized that humans with familial renal hypouricemia may have a generalized defect of urate transport across cell membranes due to the genetic deletion of a specific carrier, a defect similar to that reported in the Dalmatian dog. In this study the transport of urate ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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