TY - JOUR
T1 - Severe congenital protein C deficiency
T2 - Description of a new mutation and prophylactic protein C therapy and in vivo pharmacokinetics
AU - Tcheng, Wendy Y.
AU - Dovat, Sinisa
AU - Gurel, Zafer
AU - Donkin, Jennifer
AU - Wong, Wing Yen
PY - 2008/2
Y1 - 2008/2
N2 - Severe congenital protein C deficiency is a rare lifethreatening disorder that presents with purpura fulminans, disseminated intravascular coagulation, and thrombotic complications during the neonatal period. Affected children require acute replacement therapy with fresh frozen plasma or protein C concentrate, for example, Ceprotin (Baxter AG, Vienna). Long-term management and outcome is dependent on effective anticoagulation with warfarin, low-molecular weight heparin, or protein C concentrate. We describe the successful use of intravenous protein C concentrate for thrombotic prophylaxis in 2 sisters with severe type I protein C deficiency. Individualized long-term prophylactic regimens were developed based on clinical response. In vivo pharmacokinetic analyses of protein C concentrate were performed in each patient. Analysis of the protein C gene coding sequences identified 2 mutations in both patients, the previously described Arg 169 to Trp mutation, and a novel mutation that changes Cys 17 into a stop codon.
AB - Severe congenital protein C deficiency is a rare lifethreatening disorder that presents with purpura fulminans, disseminated intravascular coagulation, and thrombotic complications during the neonatal period. Affected children require acute replacement therapy with fresh frozen plasma or protein C concentrate, for example, Ceprotin (Baxter AG, Vienna). Long-term management and outcome is dependent on effective anticoagulation with warfarin, low-molecular weight heparin, or protein C concentrate. We describe the successful use of intravenous protein C concentrate for thrombotic prophylaxis in 2 sisters with severe type I protein C deficiency. Individualized long-term prophylactic regimens were developed based on clinical response. In vivo pharmacokinetic analyses of protein C concentrate were performed in each patient. Analysis of the protein C gene coding sequences identified 2 mutations in both patients, the previously described Arg 169 to Trp mutation, and a novel mutation that changes Cys 17 into a stop codon.
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U2 - 10.1097/MPH.0b013e31815d8943
DO - 10.1097/MPH.0b013e31815d8943
M3 - Article
C2 - 18376272
AN - SCOPUS:41949101630
VL - 30
SP - 166
EP - 171
JO - Journal of Pediatric Hematology/Oncology
JF - Journal of Pediatric Hematology/Oncology
SN - 1077-4114
IS - 2
ER -