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.

单词	hypouricaemia renal type 1
释义	hypouricaemia renal type 1 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.
随便看	atom bombs atom-bond electronegativity equalization method atom-centered density matrix propagation atom certified mastermind in multimedia atom chip quantum processor atom chips atom clock atom clocks atom cluster atom (comics) atom energy limited atom films atom girl atom heart mother atom heart mother suite atomic atomic absorption atomic absorption coefficient atomic absorption detector atomic absorption inhibition titration atomic absorption spectrometer atomic absorption spectrometry atomic absorption spectrophotometry atomic absorption spectroscopy atomic age