[Alpha 1 antitrypsin deficiency in childhood].
The author deals with the clinical importance of the alpha-1-antitrypsin deficiency in form of a survey with tabular representation of own cases. Alpha-1-antitrypsin as an inactivator of proteolytically effective enzymes essentially participates in the localised effect of proteinases. A genetically determined decreased alpha-1-antitrypsin serum level (= alpha-1-antitrypsin deficiency) by this causally participates in the pathogenesis of certain hepatopathies and in the pulmonary emphysema appearing already at the carly adult age. Within differential-diagnostic considerations an alpha-1-antitrypsin deficiency should be excluded in: 1. etiologically unclear cholestasis in infancy, 2. etiologically unclear hepatopathy in childhood, and in 3. early emphysema.
D000328:Adult; D002648:Child; D004790:Enzyme Induction; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000473:pathology; D008107:Liver Diseases / Q000209:etiology; D008297:Male; D011656:Pulmonary Emphysema / Q000209:etiology; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology; D000515:alpha 1-Antitrypsin / Q000097:blood; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin
alpha1-Antitrypsin-Mangel im Kindesalter.