Abstract |
Genetic predisposition of thromboembolism depends on the racial background. Factor V Leiden (G1691A) and factor II mutation (G20210A) are the leading causes of inherited thrombophilias in Caucasians, but are not found in Asian ancestries. Protein S (PS), protein C (PC) and antithrombin (AT) activity are reportedly low in 65% of adult Japanese patients with deep vein thrombosis. Approximately half of the patients with each deficiency carry the heterozygous mutation of PS (PROS1; 20%), PC (PROC; 10%), and AT genes (SERPINC1: 5%). Recently, several studies have revealed an outline of inherited thrombophilias in Japanese children. Congenital thrombophilias in 48 patients less than age 20 years consisted of 45% PC deficiency, 15% PS deficiency and 10% AT deficiency, along with other causes. All PS- and AT-deficient patients had a heterozygous mutation of the respective gene. On the other hand, PC-deficient patients were considered to carry the homozygous or compound heterozygous mutation in 50%, the heterozygous mutation in 25%, and unknown causes in the remaining 25% of patients. Half of unrelated patients with homozygous or compound heterozygous PROC mutations carried PC-nagoya (1362delG), while their parents with its heterozygous mutation were asymptomatic. Most of the PC-deficient patients developed intracranial lesion and/or purpura fulminans within 2 weeks after birth. Non-inherited PC deficiency also conveyed thromboembolic events in early infancy. The molecular epidemiology of thrombosis in Asian children would provide a clue to establish the early intervention and optimal anticoagulant therapy in pediatric PC deficiency.
|
Authors | Shouichi Ohga, Akira Ishiguro, Yukihiro Takahashi, Midori Shima, Masashi Taki, Masatoki Kaneko, Kotaro Fukushima, Dongchon Kang, Toshiro Hara, Japan Childhood Thrombophilia Study Group |
Journal | Pediatrics international : official journal of the Japan Pediatric Society
(Pediatr Int)
Vol. 55
Issue 3
Pg. 267-71
(Jun 2013)
ISSN: 1442-200X [Electronic] Australia |
PMID | 23521084
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
|
Copyright | © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society. |
Chemical References |
- Anticoagulants
- Antithrombins
- Protein C
- Protein S
|
Topics |
- Adolescent
- Anticoagulants
(therapeutic use)
- Antithrombins
(blood)
- Blood Coagulation Tests
- Child
- Child, Preschool
- Diagnosis, Differential
- Early Diagnosis
- Early Medical Intervention
- Humans
- Infant
- Infant, Newborn
- Japan
- Protein C
(metabolism)
- Protein C Deficiency
(blood, diagnosis, drug therapy)
- Protein S
(metabolism)
- Protein S Deficiency
(blood, diagnosis, drug therapy, genetics)
- Reference Values
- Thrombophilia
(blood, diagnosis, genetics)
|