Mritunjay Kumar, S. Sushanth Kumar, A. Sharma, R. Kumari
{"title":"x连锁alport综合征表现为双侧晶状体和终末期肾脏疾病","authors":"Mritunjay Kumar, S. Sushanth Kumar, A. Sharma, R. Kumari","doi":"10.4103/jina.jina_19_18","DOIUrl":null,"url":null,"abstract":"Alport syndrome (AS) is a type of inherited nephropathy characterized by hematuria, proteinuria, and progressive renal failure; often associated with extrarenal manifestations such as sensorineural deafness and anterior lenticonus. X-linked AS causes end-stage kidney disease in young male patients, sometimes without prominent clinical manifestation beforehand due to its heterogeneous phenotype. Here, we report a case of AS where ignorance of visual and auditory symptoms led to progression to end-stage renal disease.","PeriodicalId":158840,"journal":{"name":"Journal of Integrative Nephrology and Andrology","volume":"302 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2019-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"X-linked alport syndrome presenting as bilateral lenticonus and end-stage renal disease\",\"authors\":\"Mritunjay Kumar, S. Sushanth Kumar, A. Sharma, R. Kumari\",\"doi\":\"10.4103/jina.jina_19_18\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Alport syndrome (AS) is a type of inherited nephropathy characterized by hematuria, proteinuria, and progressive renal failure; often associated with extrarenal manifestations such as sensorineural deafness and anterior lenticonus. X-linked AS causes end-stage kidney disease in young male patients, sometimes without prominent clinical manifestation beforehand due to its heterogeneous phenotype. Here, we report a case of AS where ignorance of visual and auditory symptoms led to progression to end-stage renal disease.\",\"PeriodicalId\":158840,\"journal\":{\"name\":\"Journal of Integrative Nephrology and Andrology\",\"volume\":\"302 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Integrative Nephrology and Andrology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/jina.jina_19_18\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Integrative Nephrology and Andrology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/jina.jina_19_18","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
X-linked alport syndrome presenting as bilateral lenticonus and end-stage renal disease
Alport syndrome (AS) is a type of inherited nephropathy characterized by hematuria, proteinuria, and progressive renal failure; often associated with extrarenal manifestations such as sensorineural deafness and anterior lenticonus. X-linked AS causes end-stage kidney disease in young male patients, sometimes without prominent clinical manifestation beforehand due to its heterogeneous phenotype. Here, we report a case of AS where ignorance of visual and auditory symptoms led to progression to end-stage renal disease.