{"title":"一名患有 2 型黄嘌呤尿症的年轻男性成功接受了肾移植手术。","authors":"Mahesh Kota, Rajasekara Chakravarthi Madarasu, Vijay Varma Penmetsa, Srinivas Gutta, Aniketh Naidu","doi":"10.25259/ijn_509_23","DOIUrl":null,"url":null,"abstract":"<p><p>Type-II Xanthanuria is an genetic disorder associated with diminished serum uric acid levels. Patients with xanthanuria has absence of xanthine oxidase or xanthine dehydrogenase activity, the enzyme that converts hypoxanthine to xanthine and xanthine to uric acid. Deficiency of these enzyme leads to elevated levels of xanthine in urine which further leads to precipitation of xanthine in urine which further helps to formation of renal stones and ultimately leads to chronic kidney disease and end stage renal disease. We report a 23 years old male, who reached ESRD due to Type 2 xanthinuria, which was confirmed by genetic studies, who later successfully underwent renal transplant surgery and currently having normal life with functioning graft.</p>","PeriodicalId":0,"journal":{"name":"","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11326788/pdf/","citationCount":"0","resultStr":"{\"title\":\"Successful Kidney Transplantation in a Young Male with Type 2 Xanthinuria.\",\"authors\":\"Mahesh Kota, Rajasekara Chakravarthi Madarasu, Vijay Varma Penmetsa, Srinivas Gutta, Aniketh Naidu\",\"doi\":\"10.25259/ijn_509_23\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Type-II Xanthanuria is an genetic disorder associated with diminished serum uric acid levels. Patients with xanthanuria has absence of xanthine oxidase or xanthine dehydrogenase activity, the enzyme that converts hypoxanthine to xanthine and xanthine to uric acid. Deficiency of these enzyme leads to elevated levels of xanthine in urine which further leads to precipitation of xanthine in urine which further helps to formation of renal stones and ultimately leads to chronic kidney disease and end stage renal disease. We report a 23 years old male, who reached ESRD due to Type 2 xanthinuria, which was confirmed by genetic studies, who later successfully underwent renal transplant surgery and currently having normal life with functioning graft.</p>\",\"PeriodicalId\":0,\"journal\":{\"name\":\"\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0,\"publicationDate\":\"2024-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11326788/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.25259/ijn_509_23\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/6/24 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.25259/ijn_509_23","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/6/24 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
摘要
II 型黄嘌呤尿症是一种与血清尿酸水平降低有关的遗传性疾病。黄嘌呤尿症患者缺乏黄嘌呤氧化酶或黄嘌呤脱氢酶活性,而这些酶能将次黄嘌呤转化为黄嘌呤,再将黄嘌呤转化为尿酸。缺乏这些酶会导致尿液中黄嘌呤水平升高,进而导致尿液中黄嘌呤沉淀,进一步帮助形成肾结石,最终导致慢性肾病和终末期肾病。我们报告了一名 23 岁的男性患者,他因 2 型黄嘌呤尿而导致终末期肾病,经基因研究证实,他后来成功接受了肾移植手术,目前生活正常,移植肾功能正常。
Successful Kidney Transplantation in a Young Male with Type 2 Xanthinuria.
Type-II Xanthanuria is an genetic disorder associated with diminished serum uric acid levels. Patients with xanthanuria has absence of xanthine oxidase or xanthine dehydrogenase activity, the enzyme that converts hypoxanthine to xanthine and xanthine to uric acid. Deficiency of these enzyme leads to elevated levels of xanthine in urine which further leads to precipitation of xanthine in urine which further helps to formation of renal stones and ultimately leads to chronic kidney disease and end stage renal disease. We report a 23 years old male, who reached ESRD due to Type 2 xanthinuria, which was confirmed by genetic studies, who later successfully underwent renal transplant surgery and currently having normal life with functioning graft.