NLM Logo

Renal hypouricemia MeSH Supplementary Concept Data 2023


MeSH Supplementary
Renal hypouricemia
Unique ID
C537757
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537757
Entry Term(s)
Dalmatian hypouricemia
Hypouricemia, Renal, 1
Hypouricemia, renal
Registry Number
0
Heading Mapped to
*Urinary Calculi
*Renal Tubular Transport, Inborn Errors
Frequency
78
Note
A hereditary disorder characterized by impaired URIC ACID reabsorption at the apical membrane of PROXIMAL RENAL TUBULE cells. It may be asymptomatic, but about 10% of patients experience NEPHROLITHIASIS and exercise-induced ACUTE RENAL FAILURE. A mutation in the SLC22A12 gene has been identified. OMIM: 220150
Date of Entry
2010/08/25
Revision Date
2015/08/18
Renal hypouricemia Preferred
page delivered in 0.003s