Abstract
We studied a family in which a 21/2 years old child exhibited liver cirrhosis in association with a1-AT deficiency of the PiZZ genotype. The diagnosis was established in the proband at the time her mother was again pregnant and in her 8th month of gestation. Antiprotease activity was measured by the trypsin inhibitory method of Eriksson and by immunodiffusion techniques. Amniotic fluid was obtained from the PiZ heterozygote prior to delivery by needle puncture of the amniotic membrane. This fluid was contrasted with term amniotic fluid from 5 PiMM women and 5 fluids obtained during the l6-l8th weeks of gestation for diagnosis of other genetic diseases. The term control specimens had a trypsin inhibitory capacity = 0.031-0.106 mg/ml, first trimester fluids = 0.073-0.175 mg/ml. Immunodiffusion indicated that serum a1-AT was present in amniotic fluid, concentration = 0.293 ± 0.078 mg/ml. The child from the pregnancy under study had hepatic disease and was a PiZZ homozygote. Her amniotic fluid had antitrypsin activity 10% of controls (0.006 mg/ml). The feasibility of antenatal diagnosis is suggested.
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Kaiser, D., Rennert, O. Antiprotease activity in amniotic fluid in a family with a1 antitrypsin deficiency (a1-AT). Pediatr Res 8, 905 (1974). https://doi.org/10.1203/00006450-197411000-00054
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DOI: https://doi.org/10.1203/00006450-197411000-00054