Hypofibrinogenaemia resulting from novel single nucleotide deletion at codon Bbeta58 (3404del A) associated with thrombotic stroke in infancy.
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Biomedical subjects
Publications and source records attributed to Alison Matsunaga.
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Although thrombosis is less frequent in children than in adults, it represents a significant source of morbidity and mortality. Multiple factors. both genetic and acquired. contribute to the development of thrombosis in chiidren. Thrombosis in a child warrants investigation of potential underlying prothrombotic conditions. The risk of thrombosis in children with heterozygous deficiencies is not clearly defined, but it appears that children who are heterozygous for more than one risk factor or who have a combination of inherited and acquired defects are at higher risk for thrombosis. Treatment of thrombosis primarily involves a rapidly acting anticoaguiant such as heparin or LMWH to prevent extension, and long-term anticoagulation with warfarin may be instituted to prevent recurrence. Thrombolytic therapy with recombinant tissue plasminogen activator also appears to be safe and effective in children. Prospective and multicenter studies are still needed to clarify the contribution of specific prothrombotic disorders to childhood TE so that evidence-based treatment recommendations can be made.