Homozygous protein C deficiency--management with protein C concentrate.
Two unrelated female infants with homozygous protein C (Pr C) deficiency are reported. Both are of U.K. Pakistani origin and in each case the parents are consanguinous. A previous sibling had died in each family. Both sets of parents were shown to be carriers. The concentration of Pr C in both infants was low at birth. Both developed necrotic skin lesions (purpura fulminans) and responded well to Pr C concentrate. Both are developing normally although one has visual impairment due to retinal artery thrombosis which occurred before treatment was commenced. Both infants are treated with intravenous Pr C concentrate administered daily by the parents at home. Studies of the half-life of exogenous Pr C in one of the patients has shown an increase from 2.7 to 10.8 h during the course of treatment thus enabling it to be administered once daily while still maintaining effective plasma concentrations. In the other patient half-life has fluctuated but Pr C is also given once daily. This is the first report of this condition being treated in this way in the United Kingdom.


CONCLUSIONS
Infusion of Pr C is a safe and efficient way of treating infants with homozygous Pr C deficiency in the medium term.
Baliga
V
V
Department of Paediatrics, Newham General Hospital, Plaistow, London, UK.
Thwaites
R
R
Tillyer
M L
ML
Minford
A
A
Parapia
L
L
Allgrove
J
J
D001780:Blood Coagulation Tests; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003241:Consanguinity; D004334:Drug Administration Schedule; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D011486:Protein C / Q000008:administration & dosage; D020151:Protein C Deficiency; D011693:Purpura / Q000235:genetics* / Q000628:therapy
D011486:Protein C