Xanthinuria Type 1 with a Novel Mutation in Xanthine Dehydrogenase and a Normal Endothelial Function.
Intern Med
; 61(9): 1383-1386, 2022.
Article
em En
| MEDLINE
| ID: mdl-35491177
ABSTRACT
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.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Xantina Desidrogenase
/
Erros Inatos do Metabolismo
Limite:
Female
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Humans
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Middle aged
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article