[Diagnostic problems in alpha 1-antitrypsin deficiency (author's transl)].
Diagnostic problems in alpha 1-antitrypsin deficiency are shown by a case report about a seven weeks old infant. The typical morphological changes in a liver biopsy were suspicious for alpha 1-antitrypsindeficiency. This diagnosis was eventually established by repetition of serum electrophoresis and quantitative dterminations. In addition to prognosis, problems of therapy, prophylaxis, early diagnosis and counselling of affected families are discussed.
D001707:Biopsy, Needle; D001797:Blood Protein Electrophoresis; D006801:Humans; D007223:Infant; D008099:Liver / Q000473:pathology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis; D010641:Phenotype; D019896:alpha 1-Antitrypsin Deficiency
Diagnostische Probleme beim alpha 1-Antitrypsinmangel.