• Internal medicine · Jan 2022

    Case Reports

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

    • Satoshi Miyazaki, Toshihiro Hamada, Shinobu Sugihara, Einosuke Mizuta, Yusuke Endo, Akira Ohtahara, Koji Komatsu, Masanari Kuwabara, Tomoko Fukuuchi, Kiyoko Kaneko, Kimiyoshi Ichida, Kazuhide Ogino, Haruaki Ninomiya, Kazuhiro Yamamoto, Takashi Nakamura, and Ichiro Hisatome.
    • Division of Cardiology, Fujii Masao Memorial Hospital, Japan.
    • Intern. Med. 2022 Jan 1; 61 (9): 1383-1386.

    AbstractWhether 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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