Article
Xanthinuria Type 1 with a Novel Mutation in Xanthine Dehydrogenase and a Normal Endothelial Function.
Internal medicine (Tokyo, Japan) - 1 Jan 2022
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
Abstract excerpt
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...
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