Homozygous Antithrombin Deficiency in Adolescents Presenting With Lower Extremity Thrombosis and Renal Complications Two Case Reports From Turkey


SARPER N. , Orlando C., DEMİRSOY U. , Gelen S. , Jochmans K.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, vol.36, no.3, 2014 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 36 Issue: 3
  • Publication Date: 2014
  • Doi Number: 10.1097/mph.0000000000000033
  • Title of Journal : JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Abstract

We present 2 cases of lower extremity deep venous thrombosis in 2 gypsy adolescents from related families. The patients had low antithrombin activity levels and inherited homozygous antithrombin deficiency was confirmed by molecular analysis (Leu131Phe mutation). One patient had a history of nephrectomy at the age of 9 due to nonfunctioning kidney and 2 siblings died at 4 months of age. His mother had 3 fetal losses in the third trimester. The other propositus had an elder sister who suffered from postpartum deep vein thrombosis and pulmonary embolism. Heterozygous mutation was demonstrated in both parents.