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

Autor:	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, Ichiro, Hisatome
Rok vydání:	2022
Předmět:	Xanthine Dehydrogenase Mutation Internal Medicine Humans Female General Medicine Middle Aged Metabolism Inborn Errors Uric Acid
Zdroj:	Internal Medicine. 61:1383-1386
ISSN:	1349-7235 0918-2918
Popis:	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 CT (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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e95f90bd119d50c20aecdf4fe7e10a0 https://doi.org/10.2169/internalmedicine.7897-21 Zobrazit plný text záznamu