" /> Hypouricemia, renal, 1 - CISMeF





Preferred Label : Hypouricemia, renal, 1;

Symbol : RHUC1;

CISMeF acronym : RHUC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dalmatian hypouricemia; Renal hypouricemia;

Description : 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 (Ichida et al., 2008).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier 22 (urate transporter), member 12 gene (SLC22A12, 607096.0001);

Laboratory abnormalities : Hypouricemia; Increased urinary urate; Increased fractional excretion of urate (greater than 50%);

Prefixed ID : #220150;

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29/07/2025


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