A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia [PDF]
BMC Pediatrics, 2018 Background Renal hypouricemia is a rare heterogeneous inherited disorder characterized by impaired tubular uric acid transport, reabsorption insufficiency and /or acceleration of secretion.
Dinesha Maduri Vidanapathirana +3 more
doaj +3 more sources
Renal hypouricemia type 2 with SLC2A9 compound heterozygous variants: a case report of recurrent acute kidney injury triggered by low-intensity exercise [PDF]
Frontiers in NephrologyRenal hypouricemia (RHUC) is a rare genetic disorder characterized by impaired uric acid reabsorption which leads to persistently low serum uric acid levels.
Niranjana Rekha Paladugu +1 more
doaj +4 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
Hypouricemia and Urate Transporters
Biomedicines, 2022 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 type.
Naoyuki Otani +4 more
doaj +2 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
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
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
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
Non-urate transporter 1, non-glucose transporter member 9-related renal hypouricemia and acute renal failure accompanied by hyperbilirubinemia after anaerobic exercise: a case report [PDF]
BMC Nephrology, 2019 Background Renal hypouricemia (RHUC) is an inherited heterogenous disorder caused by faulty urate reabsorption transporters in the renal proximal tubular cells. Anaerobic exercise may induce acute kidney injury in individuals with RHUC that is not caused
Yoshitaka Furuto +6 more
doaj +2 more sources
Differential associations of transient hyperuricemia and transient hypouricemia with annual changes in estimated glomerular filtration rate in healthy participants: an observational study [PDF]
BMC NephrologyBackground Dysuricemia, encompassing both hyperuricemia (serum uric acid: SUA > 7 mg/dl) and hypouricemia (SUA ≤ 3 mg/dL), has been linked to cardio-renal risks, but it remains unclear whether consistent or transient dysuricemia contributes to the risk ...
Naoyuki Otani +7 more
doaj +2 more sources