Familial occurrence of C1-inhibitor deficiency and the effect of treatment.
Seventy one persons (67 children and 4 of their mothers) who came to the out-patient department of our hospital because of recurrent edemas of subcutaneous tissue and mucous membranes were the subjects of study. Serum haemolytic activity of complement and concentration of C1-esterase inhibitor, C1q, C4 and C3 were measured. Twenty six persons were related: altogether 12 families were studied, mostly sisters and brothers. In six patients (k 8.5% of the group studied) inherited type I defect of C1-inhibitor was detected and the diagnosis of angioneurotic edema confirmed. The results of complement determination in these patients (5 girls and 1 mother) were compared to the rest of the group and to healthy blood donors and showed clear differences in concentrations of C1-inhibitor, C1q, C4 and in haemolytic activity. Treatment consisted of fibrinolysis inhibitor, epsilon-aminocaproic acid and of antihistamine drugs. The value of this kind of therapy in the treatment of a very well responding child is discussed.
Madaliński
K
K
Department of Immunology, Children's Memorial Hospital, Warsaw.
Sabbouh
K
K
Imielska
D
D
Chorazykiewicz
M
M
D000293:Adolescent; D015119:Aminocaproic Acid / Q000627:therapeutic use; D000728:Androgens / Q000627:therapeutic use; D000799:Angioedema / Q000097:blood / Q000188:drug therapy / Q000235:genetics*; D002648:Child; D003174:Complement C1 Inactivator Proteins / Q000172:deficiency* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D000728:Androgens; D003174:Complement C1 Inactivator Proteins; D015119:Aminocaproic Acid