Document Detail


Therapy-resistant anaemia in congenital nephrotic syndrome of the Finnish type--implication of EPO, transferrin and transcobalamin losses.
MedLine Citation:
PMID:  19153070     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Julie Toubiana; Marie-Hélène Schlageter; Bilal Aoun; Olivier Dunand; Renata Vitkevic; Albert Bensman; Tim Ulinski
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2009-01-18
Journal Detail:
Title:  Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association     Volume:  24     ISSN:  1460-2385     ISO Abbreviation:  Nephrol. Dial. Transplant.     Publication Date:  2009 Apr 
Date Detail:
Created Date:  2009-03-23     Completed Date:  2009-08-07     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8706402     Medline TA:  Nephrol Dial Transplant     Country:  England    
Other Details:
Languages:  eng     Pagination:  1338-40     Citation Subset:  IM    
Affiliation:
Department of Pediatric Nephrology, Armand Trousseau Hospital, 26 Avenue du Docteur Arnold Netter, 75012 Paris, France.
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MeSH Terms
Descriptor/Qualifier:
Anemia / blood,  etiology,  therapy*
Blood Transfusion
Erythropoietin / administration & dosage,  blood,  urine*
Female
Hematinics / administration & dosage,  blood,  urine*
Humans
Infant, Newborn
Nephrectomy
Nephrotic Syndrome / complications,  congenital,  genetics,  therapy*
Transcobalamins / analysis,  urine*
Transferrin / analysis,  urine*
Chemical
Reg. No./Substance:
0/Hematinics; 0/Transcobalamins; 11096-26-7/Erythropoietin; 11096-37-0/Transferrin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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