A family with a dominant form of idiopathic Fanconi syndrome leading to renal failure in adult life.
Three members of a family previously reported by Sheldon, Luder and Web in 1961 as having a benign tubular renal disease have since developed renal failure. One received a renal transplant but died following this. This form of apparently primary, dominantly-inherited Fanconi syndrome is a mild disease in childhood, but leads to renal failure in adult life.
D002675:Child, Preschool; D004200:Diseases in Twins; D005198:Fanconi Syndrome / Q000150:complications / Q000235:genetics*; D005260:Female; D005919:Glomerular Filtration Rate; D006801:Humans; D007674:Kidney Diseases / Q000209:etiology / Q000235:genetics* / Q000601:surgery; D016030:Kidney Transplantation; D008297:Male