Clinical manifestations of protein C deficiency: a spectrum within one family
نویسندگان
چکیده
منابع مشابه
Ophthalmic manifestations of neonatal protein C deficiency.
Protein C is a vitamin K dependent plasma zymogen which acts by regulating coagulation by its specific inactivation of factors V and VII, and facilitates fibrinolysis by elevating circulating plasminogen activator levels. Protein C deficiency is a rare condition which predisposes to episodes ofpotentially blinding and lethal thromboembolism. In the newborn period, congenital protein C deficienc...
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 کاملThe Clinical Spectrum of Heterozygous Protein C Deficiency in a Large New England
A family with a high incidence of venous thromboembolism was investigated. We performed medical evaluations on 1 84 of the 41 1 surviving members of the pedigree. which allowed assignment of individuals into positive, equivocal. or negative categories with respect to their clinical histories of thrombosis. Subjects with antigenic levels of protein C less than 66% of a normal plasma pool were cl...
متن کاملThe clinical spectrum of heterozygous protein C deficiency in a large New England kindred.
A family with a high incidence of venous thromboembolism was investigated. We performed medical evaluations on 184 of the 411 surviving members of the pedigree, which allowed assignment of individuals into positive, equivocal, or negative categories with respect to their clinical histories of thrombosis. Subjects with antigenic levels of protein C less than 66% of a normal plasma pool were clas...
متن کاملClinical manifestations of mannan-binding lectin deficiency.
Mannan-binding lectin (MBL) is a plasma protein of the innate immune system with the ability to initiate antimicrobial and inflammatory actions. MBL deficiency is common. More than 10% of the general population may, depending on definition, be classified as MBL deficient, underlining the redundancy of the immune system. Ongoing research attempt to illuminate at which conditions MBL deficiency m...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2001
ISSN: 0007-1161
DOI: 10.1136/bjo.85.2.238d