Premium
Congenital erythropoietic porphyria associated with nephrotic syndrome and renal siderosis
Author(s) -
Lange B,
Hofweber K,
Waldherr R,
Schärer K
Publication year - 1995
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1995.tb13561.x
Subject(s) - medicine , nephrotic syndrome , siderosis , porphyria
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.