[Alpha 1-anti trypsin-deficiency: combination of pulmonary emphysema and liver cirrhosis in infancy (author's transl)].
The combination of pulmonary emphysema and liver cirrhosis in early childhood is documented for the first time in a 31/2 year old girl with homozygous (ZZ) deficiency of a1-antitrypsin. Examination of relatives in the generation of parents and grand parents revealed 7 heterozygous (MS) and five normal members (MM). Lung function tests showed altered respiratory function in 4 out of these 7 heterozygous subjects. Measurement of trypsin inhibitory capacity in plasma gave a good correlation to the genotype, however determinations of a1-antitrypsin coincided with it to a lesser degree. A high trypsin inhibitory capacity was detected in the tears of the propositi, which was shown to be immunologically distinguishable from serum a1-antitrypsin. Similarly, antiprotease activity was demonstrated in nasal secretions. This too did not reflect the serum profile.
D000328:Adult; D001796:Blood Protein Disorders / Q000150:complications* / Q000175:diagnosis; D002675:Child, Preschool; D002779:Cholestasis / Q000150:complications; D003937:Diagnosis, Differential; D004590:Electrophoresis, Paper; D004899:Erythroblastosis, Fetal / Q000175:diagnosis; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D005779:Immunodiffusion; D008103:Liver Cirrhosis / Q000150:complications*; D008875:Middle Aged; D009297:Nasal Mucosa / Q000378:metabolism; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011506:Proteins / Q000032:analysis; D011656:Pulmonary Emphysema / Q000150:complications*; D012129:Respiratory Function Tests; D013666:Tears / Q000032:analysis; D000515:alpha 1-Antitrypsin / Q000097:blood; D019896:alpha 1-Antitrypsin Deficiency
D011506:Proteins; D000515:alpha 1-Antitrypsin
Alpha 1-Antitrypsin-Mangel: Kombination von Lungenemphysem und Lebercirrhose im frühen Kindesalter