Caeruloplasmin isoforms in Wilson's disease in neonates
Division of Cardiological Sciences (Metabolic
Medicine), St George's Hospital Medical School,
Cranmer Terrace, London SW17 ORE
Correspondence to: Professor Carol A Seymour. Email: cseymour{at}sghms.ac.uk
Accepted 30
March 1998
Aim
To investigate the neonatal diagnosis
of Wilson's disease from caeruloplasmin isoforms in cord blood.
METHODSSerum caeruloplasmin isoforms were
measured in 5-10 ml cord blood from 10 fresh umbilical cords using
sodium dodecyl polyacrylamide gel electrophoresis (SDS PAGE) and
western blotting and analysed by densitometry. Total caeruloplasmin
concentrations were determined by nephelometry and caeruloplasmin
oxidase by p-nitrophenyldiamine.
RESULTSAlthough total caeruloplasmin
concentrations are reduced in neonates, the plasma isoform was
significantly reduced or absent in patients with Wilson's disease.
Sera from healthy neonates and from those with Wilson's disease had
reduced biliary isoforms.
CONCLUSIONIdentification of caeruloplasmin
isoforms may be a marker for Wilson's disease in neonates.
© 1998 by Archives of Disease in Childhood
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