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

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.

journal_name

Pediatr Hematol Oncol

authors

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

doi

10.1080/08880010701198811

subject

Has Abstract

pub_date

2007-04-01 00:00:00

pages

199-204

issue

3

eissn

0888-0018

issn

1521-0669

pii

777580130

journal_volume

24

pub_type

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