Your browser doesn't support javascript.
loading
Xanthinuria Type 1 with a Novel Mutation in Xanthine Dehydrogenase and a Normal Endothelial Function.
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.
Afiliação
  • Miyazaki S; Division of Cardiology, Fujii Masao Memorial Hospital, Japan.
  • Hamada T; Department of Community-Based Family Medicine, Tottori University, Faculty of Medicine, Japan.
  • Sugihara S; Health Service Center, Shimane University, Japan.
  • Mizuta E; Department of Cardiology, San-in Rosai Hospital, Japan.
  • Endo Y; Advanced Medicine, Innovation and Clinical Research Center, Tottori University Hospital, Japan.
  • Ohtahara A; Department of Cardiology, San-in Rosai Hospital, Japan.
  • Komatsu K; Department of Psychiatry Disease, Tottori University, Japan.
  • Kuwabara M; Department of Cardiology, Toranomon Hospital, Japan.
  • Fukuuchi T; Laboratory of Biomedical and Analytical Sciences, Faculty of Pharma-Science, Teikyo University, Japan.
  • Kaneko K; Faculty of Pharmaceutical Sciences, Teikyo Heisei University, Japan.
  • Ichida K; Department of Pathophysiology, Tokyo University of Pharmacy and Life Sciences, Japan.
  • Ogino K; Department of Cardiology, Japanese Red Cross Tottori Hospital, Japan.
  • Ninomiya H; Department of Biological Regulation, Tottori University Faculty of Medicine, Japan.
  • Yamamoto K; Division of Cardiovascular Medicine, Department of Molecular Medicine and Therapeutics, Faculty of Medicine, Tottori University, Japan.
  • Nakamura T; Sanwa Kagaku Kenkyusho, Japan.
  • Hisatome I; Department of Cardiovascular Medicine, Yonago Medical Center, Japan.
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.
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Xantina Desidrogenase / Erros Inatos do Metabolismo Limite: Female / Humans / Middle aged Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Xantina Desidrogenase / Erros Inatos do Metabolismo Limite: Female / Humans / Middle aged Idioma: En Ano de publicação: 2022 Tipo de documento: Article