{"title":"成人肾小球囊性肾病伴DNAH1突变1例报告","authors":"Abhilasha Soni, Manish Chaturvedy, Nitin Bajpai, Vikarn Vishwajeet, Rajesh Jhorawat","doi":"10.25259/IJN_130_2024","DOIUrl":null,"url":null,"abstract":"<p><p>Glomerulocystic kidney disease (GCKD) is a rare cause of cystic kidney disease. It is a disease of infants and neonates, but it can also be seen in adults. We present a case of a 22-year-old married female with renal failure who was later found to have GCKD on renal biopsy.</p>","PeriodicalId":13359,"journal":{"name":"Indian Journal of Nephrology","volume":"35 4","pages":"555-556"},"PeriodicalIF":0.8000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12392201/pdf/","citationCount":"0","resultStr":"{\"title\":\"Glomerulocystic Kidney Disease in an Adult with DNAH1 Mutation: A Case Report.\",\"authors\":\"Abhilasha Soni, Manish Chaturvedy, Nitin Bajpai, Vikarn Vishwajeet, Rajesh Jhorawat\",\"doi\":\"10.25259/IJN_130_2024\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Glomerulocystic kidney disease (GCKD) is a rare cause of cystic kidney disease. It is a disease of infants and neonates, but it can also be seen in adults. We present a case of a 22-year-old married female with renal failure who was later found to have GCKD on renal biopsy.</p>\",\"PeriodicalId\":13359,\"journal\":{\"name\":\"Indian Journal of Nephrology\",\"volume\":\"35 4\",\"pages\":\"555-556\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2025-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12392201/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Indian Journal of Nephrology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.25259/IJN_130_2024\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/6/29 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"UROLOGY & NEPHROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Indian Journal of Nephrology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.25259/IJN_130_2024","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/6/29 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"UROLOGY & NEPHROLOGY","Score":null,"Total":0}
Glomerulocystic Kidney Disease in an Adult with DNAH1 Mutation: A Case Report.
Glomerulocystic kidney disease (GCKD) is a rare cause of cystic kidney disease. It is a disease of infants and neonates, but it can also be seen in adults. We present a case of a 22-year-old married female with renal failure who was later found to have GCKD on renal biopsy.