Inherited Heterozygous Protein C Deficiency and Dysfunctional Protein S with Recurrent Venous Thrombotic Diseases. A Study of Three Generations of a Japanese Family
| Autor: | Akira Ito, Toshiyuki Sakata, Hiroshi Matsuo, Nobuko Tsushima, Toshikazu Hashizume, Keizaburo Oozono |
|---|---|
| Rok vydání: | 1992 |
| Předmět: |
Adult
Male medicine.medical_specialty Ticlopidine Adolescent medicine.drug_class Enzyme-Linked Immunosorbent Assay Dysfunctional family Protein S Immunoenzyme Techniques Japan Antigen Internal medicine Internal Medicine Humans Medicine Recurrent venous thrombosis biology business.industry Heterozygous protein C deficiency Anticoagulant Protein C Deficiency General Medicine Femoral Vein Middle Aged Thrombophlebitis medicine.disease Urokinase-Type Plasminogen Activator Pedigree Venous thrombosis Endocrinology Immunology biology.protein Female Warfarin Three generations business |
| Zdroj: | Internal Medicine. 31:1197-1200 |
| ISSN: | 1349-7235 0918-2918 |
| DOI: | 10.2169/internalmedicine.31.1197 |
| Popis: | We describe a rare occurence of a family affected with venous thrombosis, exhibiting a protein C (PC) deficiency and dysfunctional protein S (PS). The propositus and his father developed recurrent venous thrombosis. Their PC deficiency was characterized by low levels of both antigen and activity, and their dysfunctional PS was suggested by low PS activities despite the presence of normal free PS antigen. Over three generations, six family members had a PC deficiency, and three had both a PC deficiency and a dysfunctional PS. The mode of inheritance of PC deficiency appears to be autosomal dominant.(Internal Medicine 31 : 1197-1200, 1992) |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|