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; Ichiro Hisatome

doi:10.2169/internalmedicine.7897-21

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, Ichiro Hisatome

Author information

Satoshi Miyazaki
Division of Cardiology, Fujii Masao Memorial Hospital, Japan
Toshihiro Hamada
Department of Community-Based Family Medicine, Tottori University, Faculty of Medicine, Japan
Shinobu Sugihara
Health Service Center, Shimane University, Japan
Einosuke Mizuta
Department of Cardiology, San-in Rosai Hospital, Japan
Yusuke Endo
Advanced Medicine, Innovation and Clinical Research Center, Tottori University Hospital, Japan
Akira Ohtahara
Department of Cardiology, San-in Rosai Hospital, Japan
Koji Komatsu
Department of Psychiatry Disease, Tottori University, Japan
Masanari Kuwabara
Department of Cardiology, Toranomon Hospital, Japan
Tomoko Fukuuchi
Laboratory of Biomedical and Analytical Sciences, Faculty of Pharma-Science, Teikyo University, Japan
Kiyoko Kaneko
Faculty of Pharmaceutical Sciences, Teikyo Heisei University, Japan
Kimiyoshi Ichida
Department of Pathophysiology, Tokyo University of Pharmacy and Life Sciences, Japan
Kazuhide Ogino
Department of Cardiology, Japanese Red Cross Tottori Hospital, Japan
Haruaki Ninomiya
Department of Biological Regulation, Tottori University Faculty of Medicine, Japan
Kazuhiro Yamamoto
Division of Cardiovascular Medicine, Department of Molecular Medicine and Therapeutics, Faculty of Medicine, Tottori University, Japan
Takashi Nakamura
Sanwa Kagaku Kenkyusho, Japan
Ichiro Hisatome
Department of Cardiovascular Medicine, Yonago Medical Center, Japan

Keywords: xanthinuria type1, XDH gene, endothelial function

JOURNAL OPEN ACCESS

2022 Volume 61 Issue 9 Pages 1383-1386

DOI https://doi.org/10.2169/internalmedicine.7897-21

Details

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.

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