title: Thrombosis in congenital deficiencies of AT III, protein C or protein S: a study of 44 children.
abstract: Congenital deficiency in coagulation inhibitors is a cause of hereditary thrombotic disease. The severity of symptoms is variable and depends on the type of deficit. In this paper, 44 children suffering from deep venous thrombosis, with a mean age of 5 years, were studied. A search for Lupus anticoagulant (LA) and coagulation inhibitor deficiency showed: 3/44 cases (6.8%) had protein S deficiency, 2/44 cases (4.5%) had protein C deficiency, 1/44 cases (2.3%) had deficiencies in both protein C and S; no cases of AT III deficiency and LA was positive in 2/44 cases (4.5%). Only 1 case of APC resistance out of 13 studied was found. Four family studies were performed and confirmed the congenital origin of the disorder.
authors.affiliation: Laboratoire d'Hématologie et Banque du Sang, Hôpital d'Enfants de Tunis, Bab Saadoun, Tunisie.
authors.forename: N H
authors.initials: NH
authors.lastname: Toumi
authors.forename: F
authors.initials: F
authors.lastname: Khaldi
authors.forename: S
authors.initials: S
authors.lastname: Ben Becheur
authors.forename: A
authors.initials: A
authors.lastname: Hammou
authors.forename: B
authors.initials: B
authors.lastname: Bouttière
authors.forename: J
authors.initials: J
authors.lastname: Sampol
authors.forename: K
authors.initials: K
authors.lastname: Boukef
mesh_terms: D000293:Adolescent; D000990:Antithrombin III / Q000378:metabolism; D020152:Antithrombin III Deficiency; D019774:Blood Coagulation Factor Inhibitors / Q000172:deficiency* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016682:Lupus Coagulation Inhibitor / Q000378:metabolism; D008297:Male; D011486:Protein C / Q000378:metabolism; D020151:Protein C Deficiency; D017293:Protein S / Q000378:metabolism; D018455:Protein S Deficiency / Q000150:complications*; D013924:Thrombophlebitis / Q000209:etiology* / Q000378:metabolism
chemical_list: D019774:Blood Coagulation Factor Inhibitors; D016682:Lupus Coagulation Inhibitor; D011486:Protein C; D017293:Protein S; D000990:Antithrombin III