Homozygous antithrombin deficiency in adolescents presenting with lower extremity thrombosis and renal complications: two case reports from Turkey.
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.
*Department of Pediatrics, Division of Pediatric Hematology, Kocaeli University, Turkey †Department of Hematology, UZ Brussel Vrije Universiteit (VUB), Brussels, Belgium.
Nazan
N
Sarper
Christelle
C
Orlando
Uğur
U
Demirsoy
Sema A
SA
Gelen
Kristin
K
Jochmans
D000293:Adolescent; D000328:Adult; D000990:Antithrombin III / Q000235:genetics; D020152:Antithrombin III Deficiency / Q000175:diagnosis* / Q000628:therapy; D001780:Blood Coagulation Tests; D002675:Child, Preschool; D005190:Family; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007674:Kidney Diseases / Q000175:diagnosis*; D035002:Lower Extremity / Q000098:blood supply; D008297:Male; D009154:Mutation / Q000235:genetics; D011379:Prognosis; D011655:Pulmonary Embolism / Q000175:diagnosis*; D014421:Turkey; D020246:Venous Thrombosis / Q000175:diagnosis*
C542513:SERPINC1 protein, human; D000990:Antithrombin III