Renal hypouricemia

A hereditary disorder characterized by impaired URIC ACID reabsorption at the apical membrane of PROXIMAL RENAL TUBULE cells. It may be asymptomatic, but about 10% of patients experience NEPHROLITHIASIS and exercise-induced ACUTE RENAL FAILURE. A mutation in the SLC22A12 gene has been identified. OMIM: 220150

Also Known As:

Networked: 126 relevant articles (4 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Acute Kidney Injury (Acute Renal Failure)
2.	Inborn Genetic Diseases (Disease, Hereditary)
3.	Nephrolithiasis
4.	Urolithiasis
5.	Hematuria

Experts

1.	Ichida, Kimiyoshi: 15 articles (01/2022 - 01/2004)
2.	Stiburkova, Blanka: 12 articles (11/2021 - 04/2011)
3.	Endou, Hitoshi: 10 articles (10/2008 - 09/2003)
4.	Hosoyamada, Makoto: 9 articles (12/2021 - 01/2004)
5.	Matsuo, Hirotaka: 6 articles (08/2021 - 04/2005)
6.	Nakayama, Akiyoshi: 5 articles (08/2021 - 12/2008)
7.	Shinomiya, Nariyoshi: 5 articles (08/2021 - 12/2008)
8.	Sebesta, Ivan: 5 articles (08/2016 - 04/2011)
9.	Enomoto, Atsushi: 5 articles (06/2005 - 09/2003)
10.	Kanai, Yoshikatsu: 4 articles (01/2014 - 09/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Renal hypouricemia:

1.	Uric Acid (Urate)IBA 04/01/2019 - "Renal hypouricemia (RHUC) is a disease caused by dysfunction of renal urate reabsorption transporters; however, diagnostic guidance and guidelines for RHUC have been lacking, partly due to the low evidence level of studies on RHUC. " 07/01/2004 - "In the present study, we analyzed SLC22A12 in seven unrelated Japanese patients with renal hypouricemia whose serum level of urate was less than 1.0 mg/dl, and their family members. " 01/01/1998 - "In 16 Japanese patients with isolated renal hypouricemia, urate metabolism was measured using the urate clearance study and the subtype of renal hypouricemia [defective presecretory reabsorption (Pre), defective postsecretory reabsorption (Post), enhanced tubular secretion (Secretion) and defective presecretory and postsecretory reabsorption (Pre&Post)] were determined by the pharmacological tests. " 11/16/2023 - "Renal hypouricemia (RHUC), a rare inherited disorder characterized by impaired uric acid reabsorption and subsequent profound hypouricemia, occurs mainly due to variants in SLC22A12 or SLC2A9. " 07/01/2023 - "Characterization of Urate Metabolism and Complications of Patients with Renal Hypouricemia."
2.	XanthineIBA 01/01/1989 - "Renal handling of hypoxanthine and xanthine in normal subjects and in cases of idiopathic renal hypouricemia." 02/01/1988 - "Renal handling of hypoxanthine and xanthine in normal subjects and in four cases of idiopathic renal hypouricemia." 01/01/1992 - "Decreased renal clearance of xanthine and hypoxanthine in a patient with renal hypouricemia: a new defect in renal handling of purines." 11/01/1994 - "The effect of drugs that alter the renal tubular transport of urate in the renal excretion of the oxypurines, hypoxanthine (Hx) and xanthine (X), was used to analyze the tubular mechanisms involved in oxypurine excretion in normal subjects and in patients with idiopathic renal hypouricemia. " 02/01/1988 - "Pyrazinamide (PZA) was used to study the renal handling of hypoxanthine, xanthine and uric acid in 2 normal subjects and in 4 patients with idiopathic renal hypouricemia; one patient was classified as having a postsecretory reabsorption defect, whereas the others were classified as having a presecretory reabsorption defect. "
3.	HypoxanthineIBA 07/02/2022 - "The results showed that the subjects with renal hypouricemia had significantly lower blood hypoxanthine levels and increased urinary hypoxanthine excretion after exercise than healthy subjects. " 07/02/2022 - "As hypoxanthine is a precursor for adenosine triphosphate (ATP) production via the salvage pathway, loss of hypoxanthine after exercise in patients with renal hypouricemia may cause ATP loss in the renal tubules and consequent tissue damage." 01/01/1989 - "Renal handling of hypoxanthine and xanthine in normal subjects and in cases of idiopathic renal hypouricemia." 02/01/1988 - "Renal handling of hypoxanthine and xanthine in normal subjects and in four cases of idiopathic renal hypouricemia." 01/01/1992 - "Decreased renal clearance of xanthine and hypoxanthine in a patient with renal hypouricemia: a new defect in renal handling of purines."
4.	PurinesIBA 01/01/1992 - "Decreased renal clearance of xanthine and hypoxanthine in a patient with renal hypouricemia: a new defect in renal handling of purines."
5.	PyrazinamideFDA LinkGeneric 08/01/1996 - "A benzbromarone/pyrazinamide test suggested that renal hypouricemia was due to defective proximal tubular reabsorption of uric acid at a presecretory site. " 06/01/1979 - "The magnitude of renal urate clearance and the effects on it of probenecid and pyrazinamide suggest the inborn renal hypouricemia to be of two types, due to defective re-secretory tubular urate reabsorption and to total defective tubular urate reabsorption. " 01/01/1977 - "The abnormality described in this family is defined as familial renal hypouricemia due to an isolated renal tubular defect with attenuated response of uric acid clearance to probenecid and pyrazinamide." 01/01/1996 - "Uric acid transport in fanconi syndrome with marked renal hypouricemia: analysis using pyrazinamide and benzbromarone." 02/01/1988 - "Pyrazinamide (PZA) was used to study the renal handling of hypoxanthine, xanthine and uric acid in 2 normal subjects and in 4 patients with idiopathic renal hypouricemia; one patient was classified as having a postsecretory reabsorption defect, whereas the others were classified as having a presecretory reabsorption defect. "
6.	CarbonIBA 03/01/1983 - "In this study the transport of urate labelled with carbon 14 by the erythrocytes of four patients with familial renal hypouricemia was identical to that of five healthy controls. "
7.	urate transporterIBA 07/13/2022 - "A genetic defect in urate transporter 1 (URAT1) is the major cause of renal hypouricemia (RHUC). " 01/29/2016 - "Urate transporter 1 (URAT1/SLC22A12), a urate transporter gene, is a causative gene for renal hypouricemia type 1. Among several reported nonsynonymous URAT1 variants, R90H (rs121907896) and W258X (rs121907892) are frequent causative mutations for renal hypouricemia. " 12/01/2015 - "Since the diagnosis of the patient was familial renal hypouricemia with exercise-induced AKI, we performed genotyping of SLC22A12, which encodes human urate transporter 1. The diagnosis was confirmed by the detection of a homozygous mutation of W258X. " 01/01/2014 - "Two types were distinguished: a) renal hypouricemia type 1, caused by the defects in the SLC22A12 gene coding the human urate transporter 1 (hURAT1) and b) renal hypouricemia type 2, caused by the defects in the SLC2A9 gene, which encodes GLUT9 transporter. " 05/01/2006 - "A case of renal hypouricemia caused by urate transporter 1 gene mutations."
8.	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 12/01/2008 - "Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia." 01/01/2014 - "We have previously reported that urate transporter 1 (URAT1/SLC22A12) and glucose transporter 9 (GLUT9/SLC2A9) are causative genes for renal hypouricemia type 1 (RHUC1) and renal hypouricemia type 2 (RHUC2), respectively. " 11/26/2019 - "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." 01/01/2023 - "Renal hypouricemia is related to genetic defects of the uric acid tubular transporters urate transporter 1 and glucose transporter 9. Patients with renal hypouricemia can be completely asymptomatic or can develop uric acid kidney stones or acute kidney injury, particularly after exercise. "
9.	Probenecid (Benemid)FDA LinkGeneric 12/01/1996 - "Overexcretion of urine is caused by familial renal hypouricemia, Fanconi's syndrome, diabetes mellitus and treatments with benzbromarone and probenecid. " 06/01/1979 - "The magnitude of renal urate clearance and the effects on it of probenecid and pyrazinamide suggest the inborn renal hypouricemia to be of two types, due to defective re-secretory tubular urate reabsorption and to total defective tubular urate reabsorption. " 01/01/1977 - "The abnormality described in this family is defined as familial renal hypouricemia due to an isolated renal tubular defect with attenuated response of uric acid clearance to probenecid and pyrazinamide." 01/01/2004 - "The findings indicate that SLC22A12 was responsible for most renal hypouricemia and that URAT1 is the primary reabsorptive urate transporter, targeted by pyrazinamide, benzbromarone, and probenecid in vivo."
10.	BenzbromaroneIBA 12/01/1996 - "Overexcretion of urine is caused by familial renal hypouricemia, Fanconi's syndrome, diabetes mellitus and treatments with benzbromarone and probenecid. " 08/01/1996 - "A benzbromarone/pyrazinamide test suggested that renal hypouricemia was due to defective proximal tubular reabsorption of uric acid at a presecretory site. " 01/01/1996 - "Uric acid transport in fanconi syndrome with marked renal hypouricemia: analysis using pyrazinamide and benzbromarone." 01/01/2004 - "The findings indicate that SLC22A12 was responsible for most renal hypouricemia and that URAT1 is the primary reabsorptive urate transporter, targeted by pyrazinamide, benzbromarone, and probenecid in vivo."

Therapies and Procedures

1.	Renal Dialysis (Hemodialysis) 05/01/2012 - "A case of renal hypouricemia and a G774A gene mutation causing acute renal injury that was improved by hemodialysis."
2.	Therapeutics 03/01/2014 - "Furthermore, our data imply that GH therapy exerted only a marginal effect on the growth of this patient, and that renal hypouricemia may be a novel complication of FHS." 06/01/2003 - "Because idiopathic renal hypouricemia can be associated with exercise-induced ARF and chronic renal dysfunction, careful antihypertensive therapy and follow-up evaluation of renal function might be necessary for hypertensive patients with idiopathic renal hypouricemia." 06/01/2003 - "A case of exercise-induced acute renal failure in a patient with idiopathic renal hypouricemia developed during antihypertensive therapy with losartan and trichlormethiazide."
3.	Kidney Transplantation 01/01/2022 - "Renal hypouricemia in a recipient of living-donor kidney transplantation: a case report and literature review."
4.	Transplantation 01/01/2020 - "Transplantation of a kidney with a heterozygous mutation in the SLC22A12 (URAT1) gene causing renal hypouricemia: a case report."
5.	Lithotripsy (Extracorporeal Shockwave Lithotripsy) 06/01/1993 - "To our knowledge this is the youngest reported case of hereditary renal hypouricemia and 1 of the youngest patients to be treated with extracorporeal shock wave lithotripsy."