hypouricaemia renal type 1

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hypouricaemia renal type 1

A disorder (OMIM:220150) characterised by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells and high urinary urate excretion. Patients may be asymptomatic, but are at risk of exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis.
 
Molecular pathology
Caused by defects in SLC22A12, which encodes an organic anion transporter that regulates serum urate levels by mediating the exchange of saturable urates with organic anions.