ArticleClinical and experimental nephrology2016
Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2.
Article in Clinical and experimental nephrology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 citations in OpenAlex.
- The association between genetic polymorphisms in ABCG2 and SLC2A9 and urate: an updated systematic review and meta-analysis.BMC medical genetics · 2020Pooled it
- ABCG2 transporter: Structural and functional associations with gout (Review).International journal of molecular medicine · 2026Review
- URAT1 inhibition in hyperuricemia and gout: from transporter biology to clinical precision therapy.Frontiers in immunology · 2026Review
- Renal hypouricemia type 2 in a patient with latent autoimmune diabetes in adults: a case report and literature review.BMC nephrology · 2025Review
- URAT1 and GLUT9 as drug targets in gout: progress in transporter-directed therapies and delivery technologies.Inflammopharmacology · 2025Review
- The Role of the Intestinal Microbiome in the Pathogenesis and Treatment of Hyperuricemia: A Review.Food science & nutrition · 2025Review
- Innovative modeling: a diet-induced quail model for progressive pathological changes in uric acid metabolism disorders.Frontiers in nutrition · 2025Article
- Unmasking the silent culprit: recurrent exercise-induced acute kidney injury in a Chinese adolescent with renal hypouricemia.Renal failure · 2024Article
- Biochemical characterization of renal hypouricemia-associated mutations in urate transporter genes using human cells.Human cell · 2024Article
- Examining the Association of Rare Allelic Variants in Urate TransportersDisease markers · 2024Article
- Renal hypouricemia complicated with kidney stone: a case report.Frontiers in medicine · 2024Article
- Recurrent exercise-induced acute kidney injury associated with hypouricemia: a case report and literature review.BMC nephrology · 2023Review
- The Mechanism of Sodium-Glucose Cotransporter-2 Inhibitors in Reducing Uric Acid in Type 2 Diabetes Mellitus.Diabetes, metabolic syndrome and obesity : targets and therapy · 2023Review
- Altered Serum Uric Acid Levels in Kidney Disorders.Life (Basel, Switzerland) · 2022Review
- Analysis of Purine Metabolism to Elucidate the Pathogenesis of Acute Kidney Injury in Renal Hypouricemia.Biomedicines · 2022Article
- Article
- Urate transport in health and disease.Best practice & research. Clinical rheumatology · 2021Review
- Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population.Biomedicines · 2021Article
- The impact of an URAT1 polymorphism on the losartan treatment of hypertension and hyperuricemia.Journal of clinical laboratory analysis · 2021Article
- Urate Transporters in the Kidney: What Clinicians Need to Know.Electrolyte & blood pressure : E & BP · 2021Review
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRenal hypouricemia is a rare heterogeneous inherited disorder characterized by impaired tubular uric acid transport with severe complications, such as acute kidney injury and nephrolithiasis. Type 1 is caused by a loss-of-function mutation in the SLC22A12 gene (URAT1), while type 2 is caused by defects in the SLC2A9 gene (GLUT9). METHODS AND
resultsIn this article we present clinical, biochemical and molecular genetics of two Czech patients. The serum uric acid in the probands was 57 and 98 µmol/l and expressed as an increase in the fractional excretion of uric acid (40 and 18 %). The sequencing analysis of SLC22A12 and SLC2A9 revealed novel variants p.R92C and p.R203C in URAT1 and p.G72D in GLUT9. Functional studies were performed for these novel variants and for previously reported variants p.I118HfsX27, p.G216R and p.N333S in GLUT9 responsible for renal hypouricemia in three probands from Czech Republic and United Kingdom. Functional studies showed significantly decreased urate uptake for all variants. However, urate uptake of GLUT9 variants prepared for both isoforms were not significantly different.
conclusionsThis is the first complex function characterization of non-synonymous allelic variants in patients with renal hypouricemia regarding both GLUT9 isoforms. Our finding of defects in the SLC2A9 and SLC22A12 genes show the following: renal hypouricemia is not restricted to East Asia populations; urate uptake of GLUT9 variants prepared for both isoforms were not significantly different; renal hypouricemia type 2 has more wide clinical variability than type 1; the phenotypic severity of renal hypouricemia is not correlated with results of functional characterizations of URAT1 and GLUT9 variants.
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