title: [Prenatal diagnosis of alpha-1-antitrypsin phenotype. Case record and prognosis in severe alpha-antitrypsin deficiency Pi ZZ (author's transl)].
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.
mesh_terms: D005260:Female; D006801:Humans; D007525:Isoelectric Focusing; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D019896:alpha 1-Antitrypsin Deficiency
vernacular_title: Pränataler Ausschluss eines Alpha-1-antitrypsinmangels. Kasuistik und Prognose bei Phänotyp Pi Z.