Therapy-resistant anaemia in congenital nephrotic syndrome of the Finnish type--implication of EPO, transferrin and transcobalamin losses.
Nephrol Dial Transplant
; 24(4): 1338-40, 2009 Apr.
Article
em En
| MEDLINE
| ID: mdl-19153070
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transcobalaminas
/
Transferrina
/
Eritropoetina
/
Hematínicos
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Anemia
/
Síndrome Nefrótica
Tipo de estudo:
Etiology_studies
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article