Pr�nataler Ausschlu� eines Alpha-1-Antitrypsinmangels

Abstract

A mother had a child with cirrhosis of the liver and alpha-1-antitrypsin deficiency. In a subsequent pregnancy the fetal phenotype Pi MZ was detected by isoelectrofocusing in the amniotic fluid. Quantitative assay of alpha-1-antitrypsin gave results in the normal range. Umbilical vein blood analysis confirmed the antenatal findings. In this case it has been possible to rule out the disease before birth. In this context the clinical importance of alpha-1-antitrypsin deficiency is stressed, its frequency in the European and North-American population and the prognosis with phenotype Pi Z.

Prenatal diagnosis and prognosis in α1‐antitrypsin deficiencyPi ZZ

“…~-AT deficiency is considered one of the most fi'equent congenital disorders of protein metabolism. Hitherto there existed 18 studies on gene frequencies (Roth et al, 1980a) in blood donors in western Europe. The geographic distribution of the Pi Z alleles proved to be different.…”

“…The frequency is the highest for Sweden with 1:40; the median value for Europe is 1 : 140, that is to say the frequency of the homozygous deficiency state PiZZ amounts to the square, 1 : 19 600, according to the formula given by Hardy and Weinberg. For the USA the median value for homozygous deficiency state works out at 1:4400 adults (Roth et al, 1980a).…”