혈관증으로 발현된 Factor Ⅶ 결핍증 1례

초록

Factor Ⅶ deficiency has an estimated incidence of 1/500,000 in the general population and autosomal recessive pattern of inheritance. Factor Ⅶ deficiency is characterized by prolonged prothrombin time(PT), and normal activated partial thromboplastin time(aPTT) and bleeding time(BT). Definite diagnosis of this condition requires a specific Factor Ⅶ assay. The clinical features are variable and do not always correlate with the Factor Ⅶ level. We experienced a case of Factor Ⅶ deficiency presenting as hemarthroses in a 2-years-old girl, whose chief complaint was pain, swelling of right knee joint and limping gait. The laboratory findings were prolonged PT and prominent deficiency of factor Ⅶ. So, we report a case of Factor Ⅶ deficiency with a brief review of the related literature.

키워드