{"title":"Sporadic Form of Glomerulocystic Kidney Disease in a Child: A Case Report.","authors":"Navpreet Kaur, Pradeep D, Ritambhra Nada, Anmol Bhatia, Lesa Dawman, Karalanglin Tiewsoh","doi":"10.4103/ijn.ijn_43_23","DOIUrl":null,"url":null,"abstract":"<p><p>Glomerulocystic kidney disease (GCKD) is a rare form of cystic renal disease. We report a four-week-old baby girl born to non-consanguineous parents; their antenatal third-trimester ultrasound showed severe oligohydramnios that required amnioinfusion. Post-natal ultrasound examination showed few tiny cysts (2-3mm) involving the cortices in bilateral kidneys. Kidney biopsy showed dilatation of Bowman's space and cystically dilated glomeruli, suggestive of GCKD. Whole exome sequencing revealed no pathogenic or likely pathogenic variant.</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/PMC11326791/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/ijn.ijn_43_23","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/8/4 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Glomerulocystic kidney disease (GCKD) is a rare form of cystic renal disease. We report a four-week-old baby girl born to non-consanguineous parents; their antenatal third-trimester ultrasound showed severe oligohydramnios that required amnioinfusion. Post-natal ultrasound examination showed few tiny cysts (2-3mm) involving the cortices in bilateral kidneys. Kidney biopsy showed dilatation of Bowman's space and cystically dilated glomeruli, suggestive of GCKD. Whole exome sequencing revealed no pathogenic or likely pathogenic variant.