Hereditary renal hypouricemia

Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF).

Nephrolithiasis

The presence of calculi (stones) in the kidneys.


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PMID (PMCID)
27116386
 MALE
A Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia.
Windpessl M, Ritelli M, Wallner M, Colombi M.
Am J Nephrol. 2016;43(4):245-50.
Hereditary renal hypouricemia (RHUC) is a genetically heterogenous disorder characterized by defective uric acid (UA) reabsorption resulting in hypouricemia and increased fractional excretion of UA; acute kidney injury (AKI) and nephrolithiasis are recognized complications.
21810765
 MIXED_SAMPLE Child
Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.
Dinour D, Gray NK, Ganon L, Knox AJ, Shalev H, Sela BA, Campbell S, Sawyer L, Shu X, Valsamidou E, Landau D, Wright AF, Holtzman EJ.
Nephrol Dial Transplant. 2012;27(3):1035-41.
Hereditary renal hypouricemia type 1 (RHUC1) is caused by mutations in the renal tubular UA transporter URAT1 and can be complicated by nephrolithiasis and exercise-induced acute renal failure (EIARF).
21148271
 MIXED_SAMPLE Adult
URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews.
Dinour D, Bahn A, Ganon L, Ron R, Geifman-Holtzman O, Knecht A, Gafter U, Rachamimov R, Sela BA, Burckhardt G, Holtzman EJ.
Nephrol Dial Transplant. 2011;26(7):2175-81.
Hereditary renal hypouricemia may be complicated by nephrolithiasis or exercise-induced acute renal failure.