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    Pediatr Hematol Oncol. 2007 Apr-May;24(3):199-204.

    Homozygous 23-bp insertion of endothelial protein c receptor gene in a child with fatal sepsis.

    Kendirli T, Ciftçi E, Ince E, Yurdakul E, Kansu A, Akar N.

    Source

    Pediatric Intensive Care Unit, Ankara University School of Medicine, Ankara, Turkey.

    Abstract

    Endothelial protein C receptor (EPCR) is primarily localized on the endothelial cells of large blood vessels and is very low or absent in the microvascular endothelium of most tissues. EPCR augments the thrombin/thrombomodulin-dependent activation of protein C by 5- to 20-fold. EPCR appears to be physiologically significant in the control of blood coagulation and inflammation and in the host response to gram-negative sepsis. Here, the authors report an 8-month-old boy, who had chronic liver disease due to undetermined cause. He had Staphylococcus aureus and Candida albicans sepsis and died due to gastrointestinal, lung, and peritoneal bleeding during follow-up. Serum soluble EPCR level of the patient was high (225 ng/mL) during sepsis. A homozygous 23-bp insertion of EPCR gene was demonstrated. This case indicates the importance the EPCR gene plaus in pediatric sepsis. Homozygous 23-bp insertion of the EPCR gene may be associated with a tendency to sepsis and poor outcome.

    PMID:
    17454790
    [PubMed - indexed for MEDLINE]

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