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.

Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases

“…18 Nephrotic syndrome has previously been reported in three cases of CEP. [30][31][32] Histological evidence of renal iron deposition was noted in one previous case with a history of repeated hypertransfusion similar to case 5. 32 Pancreatitis in association with CEP has not been previously reported and may be coincidental.…”

“…[30][31][32] Histological evidence of renal iron deposition was noted in one previous case with a history of repeated hypertransfusion similar to case 5. 32 Pancreatitis in association with CEP has not been previously reported and may be coincidental. However, haemolysis may result in gallstone formation, which in turn can cause pancreatitis.…”

Coexistence of Deficiencies of Uroporphyrinogen III Synthase and Decarboxylase in a Patient with Congenital Erythropoietic Porphyria and in His Family

“…During the subsequent years the clinical symptoms of congenital erythropoietic porphyria seen in the patient exacerbated and were accompanied by development of severe osteoporosis, renal and liver siderosis and nephrotic syndrome (10). Photosensitivity became obvious after phototherapy which was indicated because of severe jaundice.…”

Advances in understanding the pathogenesis of congenital erythropoietic porphyria

“…The longstanding anaemia can result in pancytopenia accompanied by purpura and epistaxis (Fritsch et al, 1997). Non-transfusion dependent iron overload accompanying anaemia can develop in the patients (Lange et al, 1995;Fritsch et al, 1997). In a few particular cases accompanied by thrombocytopenia, increased levels of fetal haemoglobin are displayed in Hb electrophoresis test (Phillips et al, 2007;Di Pierro et al, 2015).…”

“…It is not clear if there is any impact of serum vitamin D levels on skeletal manifestations, as the majority of the patients also have vitamin D insufficiency or deficiency. Nephrotic syndrome with histological evidence of renal iron deposition has been reported (Lange et al, 1995;Katugampola et al, 2012).…”