title: Congenital erythropoietic porphyria associated with nephrotic syndrome and renal siderosis.
abstract: A 9-year-old boy with typical features of congenital erythropoietic porphyria who had received more than 50 blood transfusions developed the steroid-resistant nephrotic syndrome in the presence of normal glomerular function and glucosuria. Renal biopsy showed focal segmental glomerulosclerosis and widespread iron deposits. Magnetic resonance scanning revealed advanced siderosis of liver and kidneys. During a 4 year treatment by desferrioxamine the serum ferritin level was reduced, proteinuria dropped and serum proteins increased whilst glomerular filtration decreased slowly. It is suggested that the nephrotic syndrome may be a consequence of renal siderosis amenable to iron-chelating therapy.
authors.affiliation: Department of Paediatrics, University of Heidelberg, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Lange
authors.forename: K
authors.initials: K
authors.lastname: Hofweber
authors.forename: R
authors.initials: R
authors.lastname: Waldherr
authors.forename: K
authors.initials: K
authors.lastname: Schärer
mesh_terms: D000893:Anti-Inflammatory Agents / Q000008:administration & dosage / Q000627:therapeutic use; D002648:Child; D003676:Deferoxamine / Q000008:administration & dosage / Q000627:therapeutic use; D005919:Glomerular Filtration Rate; D006801:Humans; D007502:Iron Chelating Agents / Q000008:administration & dosage / Q000627:therapeutic use; D007668:Kidney / Q000503:physiopathology*; D008099:Liver / Q000503:physiopathology; D008297:Male; D009404:Nephrotic Syndrome / Q000209:etiology*; D017092:Porphyria, Erythropoietic / Q000150:complications* / Q000188:drug therapy; D011241:Prednisone / Q000008:administration & dosage / Q000627:therapeutic use; D012806:Siderosis / Q000188:drug therapy / Q000209:etiology* / Q000503:physiopathology*
chemical_list: D000893:Anti-Inflammatory Agents; D007502:Iron Chelating Agents; D003676:Deferoxamine; D011241:Prednisone