[Renal transplantation in patients suffering from Fabry's disease. Kidney transplantation from an heterozygote subject to a subject without Fabry's disease].
We report the case of a renal transplantation performed with the kidney of an asymptomatic female carrier of Fabry's disease. The recipient, her daughter, had normal alpha-galactosidase levels. Eight years after transplantation, the characteristic lesions of the glomerular epithelial cells, noted as early as 11 days after transplantation, are unchanged on the successive biopsies. This observation suggests that 1) some heterozygotes (perhaps all of them) have glomerular changes, 2) the glomerular changes are not modified if the kidney is placed in a normal enzymatic "environment".
D000328:Adult; D001706:Biopsy; D000795:Fabry Disease / Q000235:genetics / Q000473:pathology; D005347:Fibroblasts / Q000378:metabolism; D005696:Galactosidases / Q000378:metabolism / Q000652:urine; D006579:Heterozygote; D006801:Humans; D007668:Kidney / Q000648:ultrastructure; D007678:Kidney Glomerulus / Q000473:pathology* / Q000648:ultrastructure; D016030:Kidney Transplantation; D007962:Leukocytes / Q000378:metabolism; D008875:Middle Aged; D009404:Nephrotic Syndrome / Q000601:surgery; D014019:Tissue Donors; D014184:Transplantation, Homologous
D005696:Galactosidases
La transplantation rénale chez les sujets atteints de maladie de Fabry Transplantation du rein d'un sujet hétérozygote à un sujet sain