{"title":"一例新的X连锁Alport综合征变异病例报告","authors":"R. Gaeta","doi":"10.24966/NRT-7313/100017","DOIUrl":null,"url":null,"abstract":"X-linked Alport syndrome is a rare hereditary disorder caused by variants of the COL4A5 gene. We describe a case of a 28 year old Caucasian male with a family history of end-stage renal disease presenting with episodic gross hematuria and nephrotic range proteinuria. Renal biopsy demonstrated focal segmental glomerulosclerosis with non-diagnostic ultrastructural findings. Next Generation Sequencing revealed a COL4A5 missense likely pathogenic variant, a substitution of adenine for guanine at nucleotide 901(c.901G>A) of the coding DNA predicting a glycine to serine substitution at amino acid 301 (p.Glyc301Ser). This variant has not been reported in literature or human genomic databases.","PeriodicalId":92035,"journal":{"name":"HSOA journal of nephrology & renal therapy","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2018-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Case Report of a Novel Variant of X-linked Alport Syndrome\",\"authors\":\"R. Gaeta\",\"doi\":\"10.24966/NRT-7313/100017\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"X-linked Alport syndrome is a rare hereditary disorder caused by variants of the COL4A5 gene. We describe a case of a 28 year old Caucasian male with a family history of end-stage renal disease presenting with episodic gross hematuria and nephrotic range proteinuria. Renal biopsy demonstrated focal segmental glomerulosclerosis with non-diagnostic ultrastructural findings. Next Generation Sequencing revealed a COL4A5 missense likely pathogenic variant, a substitution of adenine for guanine at nucleotide 901(c.901G>A) of the coding DNA predicting a glycine to serine substitution at amino acid 301 (p.Glyc301Ser). This variant has not been reported in literature or human genomic databases.\",\"PeriodicalId\":92035,\"journal\":{\"name\":\"HSOA journal of nephrology & renal therapy\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-11-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"HSOA journal of nephrology & renal therapy\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.24966/NRT-7313/100017\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"HSOA journal of nephrology & renal therapy","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.24966/NRT-7313/100017","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
A Case Report of a Novel Variant of X-linked Alport Syndrome
X-linked Alport syndrome is a rare hereditary disorder caused by variants of the COL4A5 gene. We describe a case of a 28 year old Caucasian male with a family history of end-stage renal disease presenting with episodic gross hematuria and nephrotic range proteinuria. Renal biopsy demonstrated focal segmental glomerulosclerosis with non-diagnostic ultrastructural findings. Next Generation Sequencing revealed a COL4A5 missense likely pathogenic variant, a substitution of adenine for guanine at nucleotide 901(c.901G>A) of the coding DNA predicting a glycine to serine substitution at amino acid 301 (p.Glyc301Ser). This variant has not been reported in literature or human genomic databases.