[Congenital plasminogen deficiency in a Japanese family].
A Japanese family with congenital plasminogen deficiency was described. The propositus was a 43-year-old woman, who complained of the attack of tonic convulsion. Her maternal grandfather was died of myocardial infarction and grandmother died of cerebral infarction. Her mother had thrombosis of the left femoral artery at the age of 56 years. She was made a diagnosis of late onset epilepsy due to cerebral infarction or cerebral tumor by electroencephalography, brain CT, and brain MRI. Her plasma plasminogen activity determined using chromogenic substrate was 54%, and the plasma level of plasminogen antigen measured by single radial immunodiffusion was 4.8 mg/dl. Family studies revealed parallel decreases in plasminogen activity and antigen levels in her mother and second daughter. These data suggest that congenital plasminogen deficiency is inherited as an autosomal dominant defect in this family.
Uno
Y
Y
First Department of Internal Medicine, School of Medicine, University of Tokushima.
Shigekiyo
T
T
Saito
S
S
D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010958:Plasminogen / Q000172:deficiency* / Q000235:genetics; D013927:Thrombosis / Q000235:genetics*
D010958:Plasminogen