Age-specific onset and distribution of the natural anticoagulant deficiency in pediatric thromboembolism.
Pediatr Res
; 79(1-1): 81-6, 2016 Jan.
Article
en En
| MEDLINE
| ID: mdl-26372516
ABSTRACT
BACKGROUND:
The early diagnosis of inherited thrombophilia in children is challenging because of the rarity and hemostatic maturation.METHODS:
We explored protein C (PC), protein S (PS), and antithrombin (AT) deficiencies in 306 thromboembolic patients aged ≤20 y using the screening of plasma activity and genetic analysis.RESULTS:
Reduced activities were determined in 122 patients (40%). Low PC patients were most frequently found in the lowest age group (0-2 y, 45%), while low PS or low AT patients were found in the highest age group (16-20 y; PS 30% and AT 20%). Genetic study was completed in 62 patients having no other causes of thromboembolism. Mutations were determined in 18 patients (8 PC, 8 PS, and 2 AT genes). Six of eight patients with PC gene mutation were found in age 0-2 y (75%), while six of eight patients with PS gene mutation were in 7-20 y. Two AT gene-mutated patients were older than 4 y. Four PC-deficient and two PS-deficient patients carried compound heterozygous mutations. All but one PC gene-mutated patient suffered from intracranial thromboembolism, while PS/AT gene-mutated patients mostly developed extracranial venous thromboembolism.CONCLUSION:
Stroke in low PC infants and deep vein thrombosis in low PS/AT school age children could be targeted for genetic screening of pediatric thrombophilias.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Tromboembolia
/
Deficiencia de Proteína S
/
Trombofilia
/
Deficiencia de Antitrombina III
/
Resistencia a la Proteína C Activada
/
Deficiencia de Proteína C
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Screening_studies
País como asunto:
Asia
Idioma:
En
Año:
2016
Tipo del documento:
Article