Xanthinuria Type 1 with a Novel Mutation in Xanthine Dehydrogenase and a Normal Endothelial Function

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 e...

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Detalles Bibliográficos
Autores principales: Miyazaki, Satoshi, Hamada, Toshihiro, Sugihara, Shinobu, Mizuta, Einosuke, Endo, Yusuke, Ohtahara, Akira, Komatsu, Koji, Kuwabara, Masanari, Fukuuchi, Tomoko, Kaneko, Kiyoko, Ichida, Kimiyoshi, Ogino, Kazuhide, Ninomiya, Haruaki, Yamamoto, Kazuhiro, Nakamura, Takashi, Hisatome, Ichiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9152847/
https://www.ncbi.nlm.nih.gov/pubmed/35491177
http://dx.doi.org/10.2169/internalmedicine.7897-21
Descripción
Sumario: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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