Summary
Amniotic fluid from a PiZZ, a1-AT deficient infant had antiprotease levels (T.I.C. and a1-AT) that were 10% or less than control amniotic fluids. Studies on the cord blood and postpartum sera in this infant, in conjunction with parallel studies on the mother at term and subsequently, suggest that there is virtually no transfer of a1-AT across the feto-maternal unit.
References
Eriksson, S.: Studies in alpha1-antitrypsin deficiency. Acta med. scand., Suppl. 177, 1 (1965)
Fagerhol, M., Laurell, C.: The polymorphisms of “prealbumins” and alpha1-antitrypsin in human sera. Clin. chim. Acta 16, 199 (1967)
Ganrot, P. O., Bjerre, B.: Alpha1-antitrypsin and alpha2-macroglobulin concentration in serum during pregnancy. Acta obstet. gynec. scand. 46, 126 (1967)
Hoffmann, S., Grob, P. J., Hany, A.: Alpha1-antitrypsin-Genotyp-Bestimmung. Schweiz. med. Wschr. 103, 100 (1973)
Kaiser, D., Rennert, O. M., Joller-Jemelka, S., Goetz, H., Sollberger, H., Kehrli, P.: a1-Antitrypsin-Mangel: Kombination von Lungenemphysem und Leberzirrhose im frühen Kindesalter. Klin. Wschr. (in press)
Laurell, C. B.: Electrophoretic microheterogeneity of serum alpha1-antitrypsin. Scand. J. clin. Invest. 17, 271 (1965)
Lowry, O., Rosebrough, N., Farr, A., Randall, J.: Protein measurement with the folinphenol reagent. J. biol. Chem. 193, 265 (1951)
Kueppers, F.: Alpha1-antitrypsin levels and electrophoretic patterns of several deficient phenotypes. Humangenetik 15, 1 (1972)
Mancini, M., Carbonara, A., Heremans, F.: Immunochemical quantitation of antigens by single radial-immunodiffusion. Immunochem. 2, 234 (1965)
Maurer, H. R.: Disk-Electrophorese. Berlin: Walter de Gruyter 1968
Monaghan, J., Horn, D., Brock, D.: Alpha1-antitrypsin in amniotic fluid. Lancet 1973 II, 619
Sharp, H., Bridges, R., Krivit, W., Freier, L.: Cirrhosis associated with alpha1-antitrypsin deficiency: a previously unrecognized inherited disorder. J. Lab. clin. Med. 73, 934 (1969)
Sharp, H., Freier, E.: Familial cirrhosis. In: Pulmonary emphysema and proteolysis (ed. Ch. Mittman), p. 101. New York-London: Academic Press 1972
Sutcliffe, R., Brock, D.: Immunological studies on the nature and origin of the major proteins in amniotic fluid. J. Obstet. Gynaec. Brit. Cwlth 80, 721 (1973)
Talamo, R., Levison, H., Lynch, M., Hercz, A., Hyslop, A., Bain, H.: Symptomatic pulmonary emphysema in childhood associated with hereditary a1-antitrypsin. J. Pediat. 79, 20 (1971)
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Kaiser, D., Rennert, O.M., Goedde, H.W. et al. Studies of amniotic fluid and cord blood in an infant with alpha1-antitrypsin deficiency. Hum Genet 25, 241–245 (1974). https://doi.org/10.1007/BF00281434
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DOI: https://doi.org/10.1007/BF00281434