Hypothetical Mechanism of Exercise-Induced Acute Kidney Injury Associated With Renal Hypouricemia [PDF]
Biomedicines, 2021 Renal hypouricemia (RHUC) is a hereditary disease that presents with increased renal urate clearance and hypouricemia due to genetic mutations in the urate transporter URAT1 or GLUT9 that reabsorbs urates in the renal proximal tubule.
Makoto Hosoyamada
exaly +4 more sources
Exercise-Induced Acute Kidney Injury in a Police Officer With Hereditary Renal Hypouricemia [PDF]
Case Reports in Nephrology and Dialysis, 2019 Hereditary renal hypouricemia is characterized by hypouricemia with hyper-uric acid clearance due to a defect in renal tubular transport. Patients with hereditary renal hypouricemia have a higher risk of exercise-induced acute kidney injury (EAKI) and ...
Yoshio Shimizu +2 more
exaly +4 more sources
Donor-Derived Hereditary Renal Hypouricemia [PDF]
Kidney International ReportsShabna Sulaiman +10 more
doaj +4 more sources
Analysis of Purine Metabolism to Elucidate the Pathogenesis of Acute Kidney Injury in Renal Hypouricemia [PDF]
Biomedicines, 2022 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 yet been established.
Daisuke Miyamoto +9 more
doaj +2 more sources
Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2 [PDF]
Frontiers in Genetics, 2023 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 into type 1 and type 2 based on causative genes encoding physiologically ...
Yu Toyoda +17 more
doaj +2 more sources
Genotype-Informed Characterization of Mild Renal Hypouricemia [PDF]
Kidney International ReportsIntroduction: Renal hypouricemia is caused by pathogenic variants in SLC22A12 and SLC2A9 . Current diagnostic thresholds based on serum uric acid (UA) (SUA < 2 mg/dl) and fractional excretion of UA (FEUA > 10%) may overlook individuals with monoallelic ...
Noa Carrera +10 more
doaj +2 more sources
Mutation in the SLC2A9 Gene: A New Family with Familial Renal Hypouricemia Type 2 [PDF]
Case Reports in Nephrology, 2021 Familial renal hypouricemia is a rare genetic disorder characterized by a defect in renal tubular urate reabsorption. Some patients present with exercise-induced acute kidney injury and nephrolithiasis.
Christian Maalouli +3 more
doaj +2 more sources
A case of renal hypouricemia due to T217M mutation in SLC22A12 incidentally associated with IgA nephropathy [PDF]
Clinical Case ReportsKey Clinical Message A T217M heterozygous mutation in the SLC22A12 gene caused renal hypouricemia; this patient with IgA nephropathy had no findings other than IgA nephropathy on renal biopsy.
Yoshimasa Sakurabu +15 more
doaj +2 more sources
Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population [PDF]
Biomedicines, 2021 Renal hypouricemia (RHUC) is caused by an inherited defect in the main reabsorption system of uric acid, SLC22A12 (URAT1) and SLC2A9 (GLUT9). RHUC is characterized by a decreased serum uric acid concentration and an increase in its excreted fraction ...
Blanka Stiburkova +7 more
doaj +2 more sources
Diagnostic Tests for Primary Renal Hypouricemia
Nucleosides, Nucleotides and Nucleic Acids, 2011 Primary renal hypouricemia is a genetic disorder characterized by defective renal uric acid (UA) reabsorption with complications such as nephrolithiasis and exercise-induced acute renal failure. The known causes are: defects in the SLC22A12 gene, encoding the human urate transporter 1 (hURAT1), and also impairment of voltage urate transporter (URATv1),
Ivan Sebesta +2 more
exaly +5 more sources