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

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 e...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9152847/
https://www.ncbi.nlm.nih.gov/pubmed/35491177
http://dx.doi.org/10.2169/internalmedicine.7897-21
_version_ 1784717723725463552
author 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
author_facet 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
author_sort Miyazaki, Satoshi
collection PubMed
description 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.
format Online
Article
Text
id pubmed-9152847
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher The Japanese Society of Internal Medicine
record_format MEDLINE/PubMed
spelling pubmed-91528472022-06-13 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 Intern Med Case Report 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. The Japanese Society of Internal Medicine 2022-05-01 2022-05-01 /pmc/articles/PMC9152847/ /pubmed/35491177 http://dx.doi.org/10.2169/internalmedicine.7897-21 Text en Copyright © 2022 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
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
Xanthinuria Type 1 with a Novel Mutation in Xanthine Dehydrogenase and a Normal Endothelial Function
title Xanthinuria Type 1 with a Novel Mutation in Xanthine Dehydrogenase and a Normal Endothelial Function
title_full Xanthinuria Type 1 with a Novel Mutation in Xanthine Dehydrogenase and a Normal Endothelial Function
title_fullStr Xanthinuria Type 1 with a Novel Mutation in Xanthine Dehydrogenase and a Normal Endothelial Function
title_full_unstemmed Xanthinuria Type 1 with a Novel Mutation in Xanthine Dehydrogenase and a Normal Endothelial Function
title_short Xanthinuria Type 1 with a Novel Mutation in Xanthine Dehydrogenase and a Normal Endothelial Function
title_sort xanthinuria type 1 with a novel mutation in xanthine dehydrogenase and a normal endothelial function
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9152847/
https://www.ncbi.nlm.nih.gov/pubmed/35491177
http://dx.doi.org/10.2169/internalmedicine.7897-21
work_keys_str_mv AT miyazakisatoshi xanthinuriatype1withanovelmutationinxanthinedehydrogenaseandanormalendothelialfunction
AT hamadatoshihiro xanthinuriatype1withanovelmutationinxanthinedehydrogenaseandanormalendothelialfunction
AT sugiharashinobu xanthinuriatype1withanovelmutationinxanthinedehydrogenaseandanormalendothelialfunction
AT mizutaeinosuke xanthinuriatype1withanovelmutationinxanthinedehydrogenaseandanormalendothelialfunction
AT endoyusuke xanthinuriatype1withanovelmutationinxanthinedehydrogenaseandanormalendothelialfunction
AT ohtaharaakira xanthinuriatype1withanovelmutationinxanthinedehydrogenaseandanormalendothelialfunction
AT komatsukoji xanthinuriatype1withanovelmutationinxanthinedehydrogenaseandanormalendothelialfunction
AT kuwabaramasanari xanthinuriatype1withanovelmutationinxanthinedehydrogenaseandanormalendothelialfunction
AT fukuuchitomoko xanthinuriatype1withanovelmutationinxanthinedehydrogenaseandanormalendothelialfunction
AT kanekokiyoko xanthinuriatype1withanovelmutationinxanthinedehydrogenaseandanormalendothelialfunction
AT ichidakimiyoshi xanthinuriatype1withanovelmutationinxanthinedehydrogenaseandanormalendothelialfunction
AT oginokazuhide xanthinuriatype1withanovelmutationinxanthinedehydrogenaseandanormalendothelialfunction
AT ninomiyaharuaki xanthinuriatype1withanovelmutationinxanthinedehydrogenaseandanormalendothelialfunction
AT yamamotokazuhiro xanthinuriatype1withanovelmutationinxanthinedehydrogenaseandanormalendothelialfunction
AT nakamuratakashi xanthinuriatype1withanovelmutationinxanthinedehydrogenaseandanormalendothelialfunction
AT hisatomeichiro xanthinuriatype1withanovelmutationinxanthinedehydrogenaseandanormalendothelialfunction

Ejemplares similares