[Diagnostic problems in alpha 1-antitrypsin deficiency (author's transl)].

Abstract

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.