S. Miyazaki, T. Hamada, S. Sugihara, E. Mizuta, Yusuke Endo, A. Ohtahara, K. Komatsu, M. Kuwabara, T. Fukuuchi, K. Kaneko, K. Ichida, K. Ogino, H. Ninomiya, K. Yamamoto, Takashi Nakamura, I. Hisatome
{"title":"黄嘌呤脱氢酶突变和内皮功能正常的1型黄嘌呤尿","authors":"S. Miyazaki, T. Hamada, S. Sugihara, E. Mizuta, Yusuke Endo, A. Ohtahara, K. Komatsu, M. Kuwabara, T. Fukuuchi, K. Kaneko, K. Ichida, K. Ogino, H. Ninomiya, K. Yamamoto, Takashi Nakamura, I. Hisatome","doi":"10.2169/internalmedicine.7897-21","DOIUrl":null,"url":null,"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.","PeriodicalId":77259,"journal":{"name":"Medicina interna (Bucharest, Romania : 1991)","volume":"61 1","pages":"1383 - 1386"},"PeriodicalIF":0.0000,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":"{\"title\":\"Xanthinuria Type 1 with a Novel Mutation in Xanthine Dehydrogenase and a Normal Endothelial Function\",\"authors\":\"S. Miyazaki, T. Hamada, S. Sugihara, E. Mizuta, Yusuke Endo, A. Ohtahara, K. Komatsu, M. Kuwabara, T. Fukuuchi, K. Kaneko, K. Ichida, K. Ogino, H. Ninomiya, K. Yamamoto, Takashi Nakamura, I. Hisatome\",\"doi\":\"10.2169/internalmedicine.7897-21\",\"DOIUrl\":null,\"url\":null,\"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.\",\"PeriodicalId\":77259,\"journal\":{\"name\":\"Medicina interna (Bucharest, Romania : 1991)\",\"volume\":\"61 1\",\"pages\":\"1383 - 1386\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Medicina interna (Bucharest, Romania : 1991)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2169/internalmedicine.7897-21\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medicina interna (Bucharest, Romania : 1991)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2169/internalmedicine.7897-21","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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 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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