renal hypouricemia

Genetics

• associated with defects in SLC22A12 gene

Clinical manifestations

• patients often appear asymptomatic

Laboratory

• low serum urate due to defects in renal urate re-absorption & high urinary urate excretion

Complications

• exercise-induced acute renal failure
• chronic renal dysfunction
• uric acid urolithiasis

Database

• OMIM: https://mirror.omim.org/entry/220150