C1 inhibitor and diagnosis of hereditary angioedema in newborns.
Symptoms of hereditary angioedema may present during the child's first years. Attacks may be a particular threat to the narrower airway of the child. An early diagnosis is most valuable because effective C1 inhibitor (C1 INH) concentrate is available. We present a reference area for the antigenic and functional determination of C1 INH by using uncontaminated umbilical cord blood from 80 normal newborns collected by puncturing vessels in the newly delivered placenta. We examined two full-term babies (1 and 2) from mothers with hereditary angioedema type I the same way. The concentration of C1 INH antigen was determined by radial immunodiffusion. The C1 INH functional assay was based on the addition of a known quantity of C1s, which enzymatically splits a chromogenic substrate. The test was performed in the presence of methylamine and heparin in a kinetic microtiter plate assay. Citrated plasma was used in both assays. The data obtained in the 80 cord blood samples (2.5-97.5 percentile) were 0.11-0.22 g/L for C1 INH antigen (adults, 0.15-0.33 g/L) and 47.2-85.9% for C1 INH function (percentage of adults). In cord blood, baby 1 had an antigenic value of 0.12 g/L (7.5 percentile) and C1 INH function of 61.8% (42 percentile). The corresponding values for baby 2 in cord blood were less than 0.05 g/L (0.106 g/L < 2.5 percentile) and 34.3% (12.9% < 2.5 percentile). Baby 2 had markedly lower C4 values yet much higher C4 activation products than baby 1. At 4 mo, baby 1 had an antigenic C1 INH value of 0.24 g/L.(ABSTRACT TRUNCATED AT 250 WORDS)
Nielsen
E W
EW
Department of Anaesthesiology, Nordland Central Hospital, Bodö, Norway.
Johansen
H T
HT
Holt
J
J
Mollnes
T E
TE
D000799:Angioedema / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D000941:Antigens / Q000097:blood; D003174:Complement C1 Inactivator Proteins / Q000032:analysis* / Q000276:immunology; D005260:Female; D005312:Fetal Blood / Q000737:chemistry* / Q000276:immunology; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D012016:Reference Values
D000941:Antigens; D003174:Complement C1 Inactivator Proteins