Hypouricemia and urate transporters

N Otani, M Ouchi, K Misawa, I Hisatome, N Anzai - Biomedicines, 2022 - mdpi.com
Hypouricemia is recognized as a rare disorder, defined as a serum uric acid level of 2.0
mg/dL or less. Hypouricemia is divided into an overexcretion type and an underproduction …

Hypouricemia: what the practicing rheumatologist should know about this condition

C Pineda, C Soto-Fajardo, J Mendoza, J Gutiérrez… - Clinical …, 2020 - Springer
We presented an update in the field of hypouricemia, which is defined as a serum urate
concentration of< 2 mg/dL (119 μmol/L), for the practicing rheumatologist, who usually is the …

Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels

A Tin, Y Li, JA Brody, T Nutile, AY Chu… - Nature …, 2018 - nature.com
Elevated serum urate levels can cause gout, an excruciating disease with suboptimal
treatment. Previous GWAS identified common variants with modest effects on serum urate …

Transport mechanism and structural pharmacology of human urate transporter URAT1

Y Dai, CH Lee - Cell Research, 2024 - nature.com
Urate is an endogenous product of purine metabolism in the liver. High urate levels in the
blood lead to gout, a very common and painful inflammatory arthritis. Excreted urate is …

URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia

F Claverie-Martin, J Trujillo-Suarez… - Clinica Chimica …, 2018 - Elsevier
Background Renal hypouricemia (RHUC), a rare inherited disorder characterized by
impaired uric acid (UA) reabsorption in the proximal tubule, is caused by mutations in …

Identification of two dysfunctional variants in the ABCG2 urate transporter associated with pediatric-onset of familial hyperuricemia and early-onset gout

Y Toyoda, K Pavelcová, J Bohatá, P Ješina… - International Journal of …, 2021 - mdpi.com
The ABCG2 gene is a well-established hyperuricemia/gout risk locus encoding a urate
transporter that plays a crucial role in renal and intestinal urate excretion. Hitherto, p. Q141K …

Xanthine oxidoreductase inhibitors suppress the onset of exercise-induced AKI in high HPRT activity Urat1-Uox double knockout mice

T Hosoya, S Uchida, S Shibata… - Journal of the …, 2022 - journals.lww.com
Background Hereditary renal hypouricemia type 1 (RHUC1) is caused by
URAT1/SLC22A12 dysfunction, resulting in urolithiasis and exercise-induced AKI (EIAKI) …

Analysis of purine metabolism to elucidate the pathogenesis of acute kidney injury in renal hypouricemia

D Miyamoto, N Sato, K Nagata, Y Sakai, H Sugihara… - Biomedicines, 2022 - mdpi.com
Renal hypouricemia is a disease caused by the dysfunction of renal urate transporters. This
disease is known to cause exercise-induced acute kidney injury, but its mechanism has not …

Metabolic syndrome, alcohol consumption and genetic factors are associated with serum uric acid concentration

B Stibůrková, M Pavlíková, J Sokolová, V Kožich - PloS one, 2014 - journals.plos.org
Objective Uric acid is the end product of purine metabolism in humans, and increased serum
uric acid concentrations lead to gout. The objective of the current study was to identify factors …

Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2

Y Toyoda, SK Cho, V Tasic, K Pavelcová… - Frontiers in …, 2023 - frontiersin.org
Renal hypouricemia (RHUC) is a pathological condition characterized by extremely low
serum urate and overexcretion of urate in the kidney; this inheritable disorder is classified …