{"title":"Cystinuria.","authors":"S. Ezell","doi":"10.32388/t6zheh","DOIUrl":null,"url":null,"abstract":"An autosomal recessive inherited metabolic disorder caused by mutations in the SLC3A1 and SLC7A9 genes. It is characterized by deficient re-absorption of cystine in the proximal tubules of the kidney. It results in the formation of stones in the kidney, ureter, and urinary bladder.","PeriodicalId":7734,"journal":{"name":"American practitioner and digest of treatment","volume":"229 1","pages":"748"},"PeriodicalIF":0.0000,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"American practitioner and digest of treatment","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.32388/t6zheh","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
An autosomal recessive inherited metabolic disorder caused by mutations in the SLC3A1 and SLC7A9 genes. It is characterized by deficient re-absorption of cystine in the proximal tubules of the kidney. It results in the formation of stones in the kidney, ureter, and urinary bladder.