Homozygous Antithrombin Deficiency in Adolescents Presenting With Lower Extremity Thrombosis and Renal Complications Two Case Reports From Turkey
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, cilt.36, sa.3, 2014 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 36 Sayı: 3
- Basım Tarihi: 2014
- Doi Numarası: 10.1097/mph.0000000000000033
- Dergi Adı: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Anahtar Kelimeler: antithrombin deficiency, thrombosis, heparin-binding site defects, Leu131Phe mutation, POLYMERIZATION, MUTATIONS, SEVERITY
- Kocaeli Üniversitesi Adresli: Evet
Özet
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.