PMID: 8580639Nov 1, 1995Paper

Congenital erythropoietic porphyria associated with nephrotic syndrome and renal siderosis

Acta Paediatrica
B LangeK Schärer

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.

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Citations

Apr 29, 1998·Clinics in Dermatology·G H Elder
Jan 1, 1997·European Journal of Clinical Chemistry and Clinical Biochemistry : Journal of the Forum of European Clinical Chemistry Societies·A G FreesemannM O Doss
Jul 24, 2012·The British Journal of Dermatology·R P KatugampolaA V Anstey
Mar 13, 2016·British Journal of Haematology·Elena Di PierroFrancesca Granata
Jan 26, 2006·Diabetic Medicine : a Journal of the British Diabetic Association·S von SengbuschV Wagner

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