{"title":"[家族性幼年肾病——一种遗传引起的肾脏疾病]。","authors":"S Demuth, C August","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>It is reported on the course of the autosomal recessive transmitted familiar juvenile nephronophthisis in 3 siblings. Direct symptoms are polydipsia and polyuria with terminal course of chronic renal failure which could treated by dialysis and transplantation. Examination of the safe (parents) and possible (healthy siblings) heterozygotes was without particularities.</p>","PeriodicalId":76863,"journal":{"name":"Zeitschrift fur Urologie und Nephrologie","volume":"83 9","pages":"505-9"},"PeriodicalIF":0.0000,"publicationDate":"1990-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Familial juvenile nephronophthisis--a genetically-caused kidney disease].\",\"authors\":\"S Demuth, C August\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>It is reported on the course of the autosomal recessive transmitted familiar juvenile nephronophthisis in 3 siblings. Direct symptoms are polydipsia and polyuria with terminal course of chronic renal failure which could treated by dialysis and transplantation. Examination of the safe (parents) and possible (healthy siblings) heterozygotes was without particularities.</p>\",\"PeriodicalId\":76863,\"journal\":{\"name\":\"Zeitschrift fur Urologie und Nephrologie\",\"volume\":\"83 9\",\"pages\":\"505-9\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1990-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Zeitschrift fur Urologie und Nephrologie\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Zeitschrift fur Urologie und Nephrologie","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
It is reported on the course of the autosomal recessive transmitted familiar juvenile nephronophthisis in 3 siblings. Direct symptoms are polydipsia and polyuria with terminal course of chronic renal failure which could treated by dialysis and transplantation. Examination of the safe (parents) and possible (healthy siblings) heterozygotes was without particularities.