RESUMO
Whether or not extremely low levels of serum uric acid (SUA) in xanthinuria are associated with impairment of the endothelial function and exercise-induced acute kidney injury (EIAKI) is unclear. A 59-year-old woman without EIAKI or urolithiasis had undetectable levels of UA in serum and urine and elevated levels of hypoxanthine and xanthine in urine. A genetic analysis revealed homozygous mutations in the XDH gene [c.1585 C>T (p. Gln529*)]. Flow-mediated dilation was within the normal range. This is the first report of a case with extremely low levels of SUA, xanthinuria with novel mutations of xanthine dehydrogenase (XDH) and a normal endothelial function.
Assuntos
Erros Inatos do Metabolismo , Xantina Desidrogenase , Feminino , Humanos , Erros Inatos do Metabolismo/genética , Pessoa de Meia-Idade , Mutação/genética , Ácido Úrico , Xantina Desidrogenase/deficiência , Xantina Desidrogenase/genéticaRESUMO
Heredity hypouricemia is caused by renal hypouricemia or xanthinuria. Xanthinuria is divided into type 1 with deficiency of xanthine dehydrogenase and type 2 with xanthine dehydrogenase and aldehyde oxidase deficiency. We report a case of xanthinuria type 1 that developed with kidney failure. Hemodialysis was done for him, but kidney function was not improved, so a kidney transplant was performed for him. His serum uric acid was 0.1 mg/dl before and after transplantation.