title: Early onset of abdominal venous thrombosis in a newborn with homozygous type II heparin-binding site antithrombin deficiency.
abstract: : The overall incidence of thromboembolic events in the neonatal period is 5 per 100 000 births, wherein more than 40% of all such manifestations are symptomatic renal vein thromboses. We describe the case of a newborn female who developed extensive thrombosis, which filled the inferior vena cava and renal vein and was diagnosed in the first weeks of life. A homozygous type II heparin-binding site antithrombin deficiency (c. 391C>T, p. Leu131Phe) was detected in the background. Despite the timely diagnosis and appropriate treatment, clinical signs of renal insufficiency, because of left kidney atrophy and arterial hypertension, were observed. Our case demonstrates the seriousness of the consequences arising after early onset of venous thrombosis caused by homozygous type II heparin-binding site antithrombin deficiency. In addition to prompt diagnosis, of huge importance is the determination of inherited thrombophilia, as it significantly affects therapeutic treatment and indicates that long-term follow-up is mandatory.
authors.affiliation: aFaculty of Medicine, University of Belgrade bHemostasis Department, Blood Transfusion Institute of Serbia, Belgrade cMedical Faculty Novi Sad, University of Novi Sad Institute of Laboratory Medicine, Clinical Center of Vojvodina, Novi Sad dUniversity Children's Hospital, Belgrade eInstitute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Siberia fFaculty of Medicine, Division of Clinical Laboratory Research, Department of Laboratory Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Mirjana
authors.initials: M
authors.lastname: Kovac
authors.forename: Gorana
authors.initials: G
authors.lastname: Mitic
authors.forename: Milos
authors.initials: M
authors.lastname: Jesic
authors.forename: Valentina
authors.initials: V
authors.lastname: Djordjevic
authors.forename: Laszlo
authors.initials: L
authors.lastname: Muszbek
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Bereczky
mesh_terms: D005260:Female; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D019851:Thrombophilia / Q000150:complications*; D020246:Venous Thrombosis / Q000188:drug therapy / Q000209:etiology*