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 +4 more sources
Duloxetine‐induced syndrome of inappropriate antidiuretic hormone secretion in a patient with neuropathic pain [PDF]
Clinical Case ReportsKey Clinical Message Syndrome of inappropriate antidiuretic hormone secretion (SIADH) induces hyponatremia accompanied by uric acid reduction. We report a case of a patient with small‐cell lung cancer who developed SIADH with hypouricemia after ...
Nobuyuki Takahashi +4 more
doaj +3 more sources
A Case of Idiopathic Renal Hypouricemia with Gene Mutation Showing General Weakness and Incidental Renal Stone [PDF]
Childhood Kidney Diseases, 2021 Idiopathic renal hypouricemia (iRHUC) is a rare hereditary disease caused by a defect in urate handling of renal tubules. Type 1 renal hypouricemia (RHUC1) is diagnosed with confirmation of a mutation in SLC22A12 gene which encodes a renal urate-anion ...
Jin Woon Joung +3 more
doaj +2 more sources
Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes [PDF]
Scientific Reports, 2019 Differentiating between inherited renal hypouricemia and transient hypouricemic status is challenging. Here, we aimed to describe the genetic background of hypouricemia patients using whole-exome sequencing (WES) and assess the feasibility for genetic ...
Do Hyeon Cha +12 more
doaj +3 more sources
Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia [PDF]
Biomedicines, 2021 Renal hypouricemia is a rare genetic disorder. Hypouricemia can present as renal stones or exercise-induced acute renal failure, but most cases are asymptomatic.
Jaeho Yoon +8 more
doaj +4 more sources
Scientific Reports, 2022 Hypouricemia in children including renal hypouricemia, which is a major cause of exercise-induced acute renal injury (EIAKI), is an important clinical problem, in addition to hyperuricemia.
Yuhei Aoki +9 more
doaj +2 more sources
Causes of Hypouricemia Among Outpatients [PDF]
Laboratory Medicine, 2008 Background The aim of this study was to examine the ratio and underlying causes of hypouricemia in patients visiting our outpatient clinics. The association between hypouricemia and uricosuria and other renal tubular defects was also studied. Methods Serum uric acid levels were determined by uricase methods in 18,330 serum samples.
Balaban, Yasemin +2 more
openaire +4 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
Hypothetical Mechanism of Exercise-Induced Acute Kidney Injury Associated with Renal Hypouricemia
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
doaj +2 more sources
Applied Sciences, 2019 Renal hypouricemia (RHUC) is caused by an inherited defect in the main (reabsorptive) renal urate transporters, URAT1 and GLUT9. RHUC is characterized by decreased concentrations of serum uric acid and an increase in its excretion fraction.
Blanka Stiburkova +6 more
doaj +2 more sources