J Pediatr Hematol Oncol. 2008 Feb;30(2):166-71.

Severe congenital protein C deficiency: description of a new mutation and prophylactic protein C therapy and in vivo pharmacokinetics.

Tcheng WY, Dovat S, Gurel Z, Donkin J, Wong WY.

Source

Division of Hematology-Oncology, Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA, USA.

Abstract

Severe congenital protein C deficiency is a rare life-threatening 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 Arg169 to Trp mutation, and a novel mutation that changes Cys17 into a stop codon.

PMID:: 18376272; [PubMed - indexed for MEDLINE]

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