Combined Protein C and Protein S Deficiency in a Family with Repetitive Thromboembolism and Segregated Gene Mutations
نویسندگان
چکیده
منابع مشابه
Protein C deficiency in a family with thromboembolism and identified gene mutations.
Protein C is the central component of the major anti-thrombotic regulatory system, and individuals with hereditary protein C deficiency tend to have an increased risk of thromboembolism. During the last several years, mutations causing protein C deficiency have been identified. In the present study, we report familial cases with three nucleotide substitutions: One is a missense mutation Arg169T...
متن کاملRisk of venous thromboembolism and clinical manifestations in carriers of antithrombin, protein C, protein S deficiency, or activated protein C resistance: a multicenter collaborative family study.
Deficiencies of antithrombin (AT), protein C (PC) or protein S (PS), and activated protein C resistance (APCR) are very well-established coagulation defects predisposing to venous thromboembolism (VTE). We performed a retrospective cohort family study to assess the risk for VTE in individuals with AT, PC, or PS deficiency, or APCR. Five hundred thirteen relatives from 9 Italian centers were sel...
متن کاملLacunar infarction in child with Protein S deficiency: a case report
Abstract Arterial ischemic stroke defines as a new focal neurologic deficit that lasted 24 hours or longer. Stroke is relatively rare in children and incidence of cerebrovascular disease is 1 per 4000 in neonates and 1 per 7000 to 1 per 70000 in older children (1 month to 18 years). Protein S deficiency is one of the causes of the stroke in children. Major manifestations of protein S deficienc...
متن کاملProtein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism
Hereditary protein C (PC) deficiency is an autosomal dominant disorder associated with a high risk of venous thromboembolism (VTE). Here we report a case of inherited PC deficiency associated with recurrent deep venous thrombosis. Two mutations were revealed in PROC (c.1152C>G, p.N384K and c.1207G>T, p.G403W) by genetic testing. Results from this case suggest that the inherited PC deficiency du...
متن کاملThe risk of recurrent venous thromboembolism in patients with inherited deficiency of natural anticoagulants antithrombin, protein C and protein S.
Few data are available on the risk of recurrent venous thromboembolism (VTE) associated with the rare inherited deficiencies of natural anticoagulants. We studied 602 patients with previous VTE: the incidence of first recurrence in the absence of anticoagulation was retrospectively estimated in 64 patients with deficiency of antithrombin (AT, n=14), protein C (PC, n=28), or protein S (PS, n=22)...
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 2003
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.42.268