[A case of hereditary angioneurotic edema provoked by functional insufficiency of C1-inactivator].
The hemolytic activity of complement, the concentration of C1-inactivator, of C1q and C4 components of complement as well as the activity of contact-activated kallikrein and the functional activity of C1-inactivator were studied in the plasma of a female patient with hereditary angioneurotic edema (HAE), of her mother, sister and normal donors. The hemolytic activity of complement, the concentration of C1-inactivator and C1q in the blood plasma of the persons examined turned out unchanged as compared with the same parameters in donors. Meanwhile in the patient with HAE and her mother with symptoms similar to HAE, the concentration of C4 appeared lower than that in the patient's sister not suffering from the disease and in donors. The activity of contact-activated kallikrein in the plasma of the patient's sister and mother exceeded the activity of the enzyme in donors. The least activity of plasma kallikrein was recorded in the proband. The functional activity of C1-inactivator in the proband constituted 50-60% of the activity of that parameter in her sister and donors. The magnitude of the functional activity of C1-inactivator in the patient's mother approximated its magnitude in the proband. Therefore, the development of HAE in the given case was mainly provoked by functional insufficiency of C1-inactivator. The magnitude of the spontaneous TAME-esterase kallikrein-like activity in the blood plasma of the patient with HAE remained within normal.
Didkovskiĭ
N A
NA
Paskhina
T S
TS
Rabinovich
S E
SE
Nartikova
V F
VF
Dvoretskiĭ
L I
LI
D000328:Adult; D000799:Angioedema / Q000097:blood / Q000235:genetics / Q000503:physiopathology*; D003174:Complement C1 Inactivator Proteins / Q000502:physiology*; D015922:Complement C1q / Q000032:analysis; D003181:Complement C4 / Q000032:analysis; D003165:Complement System Proteins / Q000032:analysis; D005260:Female; D006801:Humans; D007610:Kallikreins / Q000097:blood
D003174:Complement C1 Inactivator Proteins; D003181:Complement C4; D015922:Complement C1q; D003165:Complement System Proteins; D007610:Kallikreins
Sluchaĭ nasledstvennogo angionevroticheskkogo oteka, obuslovlennogo funktsional'noĭ nedostatochnost'iu C1- inaktivatora.