Introduction: Hypouricemia may be caused by disorders leading to decreased UA production, oxidation of UA to allantoin by drugs or increased renal tubular loss of filtered UA, renal hypouricemia (RHUC). RHUC may be resulted from familial or acquired disorders. Familial RHUC cases are classified according to the gene affected as type 1 (SLC22A12 gene) and type 2 (SLC2A9). Clinical importance of RHUC entity is mainly determined by emerging of acute kidney injury (AKI) after strenuous exercise and urolithiasis.
Case Presentation: Here, we report a case of RHUC with increased fractional excretion of uric acid value of more than 100%, serum uric acid level of nearly zero, and exercise-induced AKI episodes clinically and a new unpublished homozygous (biallelic) mutation of c.1419+2T>G (IVS11+2T>G) in the SLC2A9 gene genetically for the first time to our knowledge.
Conclusion: Clinicians should be aware of this rare entity defined as hereditary RHUC in order to provide long term renoprotection by advisements like simple precautions such as avoiding severe exercises.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.nefro.2021.07.006 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Renal hypouricemia type 2 with SLC2A9 compound heterozygous variants: a case report of recurrent acute kidney injury triggered by low-intensity exercise.
Front Nephrol
October 2024
Department of Nephrology, AIG (Mayo Clinic Care Network) Hospitals, Hyderabad, Telangana, India.
Renal hypouricemia (RHUC) is a rare genetic disorder characterized by impaired uric acid reabsorption which leads to persistently low serum uric acid levels. This condition predisposes individuals to complications such as uric acid kidney stones and exercise-induced acute kidney injury (EIAKI). Although mutations in SLC22A12 and SLC2A9 are commonly implicated in RHUC, the precise pathophysiological mechanisms, particularly those contributing to AKI, remain incompletely understood.
View Article and Find Full Text PDFAnnual change in eGFR in renal hypouricemia: a retrospective pilot study.
Clin Exp Nephrol
October 2024
Department of Cardiology, National Hospital Organization, Yonago Medical Center, Yonago, Japan.
Article Synopsis
- Some people with a condition called renal hypouricemia (RHU) have very low levels of uric acid, which might be linked to kidney problems, but we don’t know much about how it affects kidney function.
- A study looked at 13 RHU patients over about 5.5 years and found that their kidney function (eGFR) didn't get worse, while it did for others without RHU.
- RHU patients with different types of genetic mutations also showed no major differences in how their kidney function changed over time.
A case of renal hypouricemia due to T217M mutation in SLC22A12 incidentally associated with IgA nephropathy.
Clin Case Rep
September 2024
Department of Nephrology, Rheumatology, Endocrinology and Metabolism Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan.
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. Hypouricemia was susceptible to oxidative stress, but IgA nephropathy in the patient with hypouricemia could be treated with steroid pulse therapy without adverse events.
View Article and Find Full Text PDFUnmasking the silent culprit: recurrent exercise-induced acute kidney injury in a Chinese adolescent with renal hypouricemia.
Ren Fail
December 2024
Department of Nephrology, Affiliated Hospital of Jining Medical College, Jining, Shandong, China.
Primary renal hypouricemia (RHUC) is a rare autosomal recessive disorder with a mean duration of end-stage acute kidney injury (EIAKI) of 14 days. The pathogenesis of EIAKI in patients with RHUC remains unclear. Several hypotheses have been proposed, including those related to the renal vasoconvulsive effect and the elevating effect of xanthine oxidase (XO).
View Article and Find Full Text PDFDonor-Derived Hereditary Renal Hypouricemia.
Kidney Int Rep
June 2024
Department of Nephrology, IQRAA International Hospital and Research Centre, Calicut, India.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!