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Hypouricemia, renal, 2(RHUC2)

MedGen UID:
436974
Concept ID:
C2677549
Disease or Syndrome
Synonyms: HYPOURICEMIA, RENAL, 2, AUTOSOMAL DOMINANT; HYPOURICEMIA, RENAL, 2, AUTOSOMAL RECESSIVE
 
Gene (location): SLC2A9 (4p16.1)
 
Monarch Initiative: MONDO:0012793
OMIM®: 612076

Definition

Renal hypouricemia is a common inherited disorder characterized by impaired renal urate reabsorption and subsequent low serum urate levels. It may be associated with severe complications such as exercise-induced acute renal failure (EIARF) and nephrolithiasis (summary by Matsuo et al., 2008). For additional phenotypic information and a discussion of genetic heterogeneity of renal hypouricemia, see RHUC1 (220150). [from OMIM]

Additional description

From MedlinePlus Genetics
People with renal hypouricemia have little to no urate in their blood; they release an excessive amount of it in the urine. In many affected individuals, renal hypouricemia causes no signs or symptoms. However, some people with this condition develop kidney problems. After strenuous exercise, they can develop exercise-induced acute kidney injury, which causes pain in their sides and lower back as well as nausea and vomiting that can last several hours.

Because an excessive amount of urate passes through the kidneys to be excreted in urine in people with renal hypouricemia, they have an increased risk of developing kidney stones (nephrolithiasis) formed from urate crystals. These urate stones can damage the kidneys and lead to episodes of blood in the urine (hematuria). Rarely, people with renal hypouricemia develop life-threatening kidney failure.

Renal hypouricemia is a kidney (renal) disorder that results in a reduced amount of urate in the blood. Urate is a byproduct of certain normal chemical reactions in the body. In the bloodstream it acts as an antioxidant, protecting cells from the damaging effects of unstable molecules called free radicals. However, having too much urate in the body is toxic, so excess urate is removed from the body in urine.  https://medlineplus.gov/genetics/condition/renal-hypouricemia

Clinical features

From HPO
Nephrolithiasis
MedGen UID:
98227
Concept ID:
C0392525
Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Hypouricemia
MedGen UID:
113163
Concept ID:
C0221333
Finding
An abnormally low level of uric acid in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Peces R, Mena R, Peces C, Cuesta E, Selgas R, Barruz P, Lapunzina P, Nevado J
Clin Genet 2020 Jun;97(6):857-868. Epub 2020 Mar 25 doi: 10.1111/cge.13738. PMID: 32166738
Chiba T, Matsuo H, Nagamori S, Nakayama A, Kawamura Y, Shimizu S, Sakiyama M, Hosoyamada M, Kawai S, Okada R, Hamajima N, Kanai Y, Shinomiya N
Nucleosides Nucleotides Nucleic Acids 2014;33(4-6):261-5. doi: 10.1080/15257770.2013.857781. PMID: 24940677

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