Therapy-resistant anaemia in congenital nephrotic syndrome of the Finnish type--implication of EPO, transferrin and transcobalamin losses.
Congenital nephrotic syndrome of the Finnish type (CNF) is due to NPHS1 mutation and is responsible for a variety of urinary protein losses. We report the case of a 4-month-old girl with a particularly severe form (proteinuria approximately 150 g/l) of CNF. She developed severe non-regenerative anaemia requiring bi-monthly blood transfusions despite daily EPO (600 UI/kg) and iron supplementation. Epoetin pharmacokinetics revealed a urinary loss of 27% of the given dose within the first 24 h after IV injection. However, plasma levels remained increased after 24 h (228 UI/l). Plasma transferrin and transcobalamin levels were undetectable. Atransferrinaemia and atranscobalaminaemia seem to be responsible for disturbed erythropoiesis.
Toubiana
Julie
J
Department of Pediatric Nephrology, Armand Trousseau Hospital, 26 Avenue du Docteur Arnold Netter, 75012 Paris, France.
Schlageter
Marie-Hélène
MH
Aoun
Bilal
B
Dunand
Olivier
O
Vitkevic
Renata
R
Bensman
Albert
A
Ulinski
Tim
T
D000740:Anemia / Q000097:blood / Q000209:etiology / Q000628:therapy*; D001803:Blood Transfusion; D004921:Erythropoietin / Q000008:administration & dosage / Q000097:blood / Q000652:urine*; D005260:Female; D006397:Hematinics / Q000008:administration & dosage / Q000097:blood / Q000652:urine*; D006801:Humans; D007231:Infant, Newborn; D009392:Nephrectomy; D009404:Nephrotic Syndrome / Q000150:complications / Q000151:congenital / Q000235:genetics / Q000628:therapy*; D014155:Transcobalamins / Q000032:analysis / Q000652:urine*; D014168:Transferrin / Q000032:analysis / Q000652:urine*
D006397:Hematinics; D014155:Transcobalamins; D014168:Transferrin; D004921:Erythropoietin