[The molecular expression of C1 esterase inhibitor in hereditary angioneurotic oedema. Study of 32 families (author's transl)].
Seventy seven patients from 32 families suffereing from angioneurotic oedema were studied and a single theory of the disorder is suggested. The functional abnormality of alpha2 neuraminoglycoprotein (NGP) or of C1 esterase inhibitor is related involvement of the structure gene (s) controlling its synthesis. Particular immunochemical characteristics of the inhibitor seen in severals families and remaining constant through a number of generations would indicate the existence of a phenomenon of functional haploidism in these heterozygous patients. Treatment of the condition with androgens suggests the existence of two varieties of alpha2 NGP molecules which are differentiated on the basis of their complete or incomplete glycoconjugation in the hepatocyte.
D000728:Androgens / Q000627:therapeutic use; D000799:Angioedema / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D005260:Female; D005796:Genes; D006023:Glycoproteins / Q000235:genetics; D006238:Haploidy; D006242:Haptoglobins / Q000032:analysis; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype
D000728:Androgens; D003174:Complement C1 Inactivator Proteins; D006023:Glycoproteins; D006242:Haptoglobins
Expression moléculaire de l'inhibiteur de la C1 estérase au cours de l'oedème angio-neurotique héréditaire.