Paniz Pourpashang, Arefeh Zahmatkesh, F. Nili, Zahra Pournasiri, Farzaneh Khosropour
{"title":"End stage renal disease due to primary hyperoxaluria in a 7-month infant; a case report","authors":"Paniz Pourpashang, Arefeh Zahmatkesh, F. Nili, Zahra Pournasiri, Farzaneh Khosropour","doi":"10.34172/jnp.2023.21475","DOIUrl":null,"url":null,"abstract":"Primary hyperoxaluria (PH) is a rare genetic metabolic disease presented severely in infants with end-stage renal disease (ESRD). Promoting diagnosis with aggressive management is essential in these patients. Here we presented a rare case of primary hyperoxaluria type 1 (PH1) in a seven-month infant girl who underwent dialysis with prospective kidney transplantation in the future.","PeriodicalId":16515,"journal":{"name":"Journal of Nephropathology","volume":"125 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Nephropathology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.34172/jnp.2023.21475","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Primary hyperoxaluria (PH) is a rare genetic metabolic disease presented severely in infants with end-stage renal disease (ESRD). Promoting diagnosis with aggressive management is essential in these patients. Here we presented a rare case of primary hyperoxaluria type 1 (PH1) in a seven-month infant girl who underwent dialysis with prospective kidney transplantation in the future.