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

Kendirli T., ÇİFTCİ E., Ince E., Yurdakul E., KANSU TANCA A., Akar N.

PEDIATRIC HEMATOLOGY AND ONCOLOGY, vol.24, no.3, pp.199-204, 2007 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 24 Issue: 3
  • Publication Date: 2007
  • Doi Number: 10.1080/08880010701198811
  • Journal Name: PEDIATRIC HEMATOLOGY AND ONCOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.199-204
  • Keywords: child, endothelial protein C receptor, homozygous 23 bp insertion, sepsis, OPEN-LABEL, MICE
  • Ankara University Affiliated: Yes

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.