Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2

• Published in: Nephrology, dialysis, transplantation Vol. 27; no. 3; pp. 1035 - 1041
• Main Authors: Dinour, D., Gray, N. K., Ganon, L., Knox, A. J. S., Shalev, H., Sela, B.-A., Campbell, S., Sawyer, L., Shu, X., Valsamidou, E., Landau, D., Wright, A. F., Holtzman, E. J.
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.03.2012
• Subjects: Adult; Aged, 80 and over; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Animals; Associated diseases and complications; Biological and medical sciences; Child; Child, Preschool; Diabetes. Impaired glucose tolerance; Emergency and intensive care: renal failure. Dialysis management; Endocrine pancreas. Apud cells (diseases); Endocrinopathies; Female; Glucose Transport Proteins, Facilitative - genetics; Homozygote; Humans; Intensive care medicine; Male; Medical sciences; Models, Molecular; Molecular Dynamics Simulation; Mutation - genetics; Pedigree; Renal Tubular Transport, Inborn Errors - blood; Renal Tubular Transport, Inborn Errors - genetics; Uric Acid - blood; Urinary Calculi - blood; Urinary Calculi - genetics; Xenopus laevis - genetics; Xenopus laevis - metabolism; Young Adult; Kidney disease; Urinary system disease; Hemodialysis; Metabolic diseases; Uric acid; Homozygosity; Enzymopathy; SLC2A9; Extrarenal dialysis; URAT1; Renal failure; GLUT9; hereditary renal hypouricemia; Purine; Hypouricemia; Mutation

Elevated serum uric acid (UA) is associated with gout, hypertension, cardiovascular and renal disease. 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 (EIA...