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a1-Antitrypsin-Mangel: Kombination von Lungenemphysem und Lebercirrhose im frühen Kindesalter

a 1 -Anti-trypsin-deficiency: Combination of pulmonary emphysema and liver cirrhosis in infancy

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Summary

The combination of pulmonary emphysema and liver cirrhosis in early childhood is documented for the first time in a 3 1/2 year old girl with homozygous (ZZ) deficiency of a1-antitrypsin. Examination of relatives in the generation of parents and grand parents revealed 7 heterozygous (MZ) 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 determination 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.

Zusammenfassung

Bei einer jetzt 3 1/2 jährigen Patientin wird erstmals über das gemeinsame Auftreten von Lungenemphysem und biliärer Lebercirrhose bei homozygotem a1-Antitrypsinmangel (Typ ZZ) schon im frühen Kindesalter berichtet. Unter den 12 untersuchten Blutsverwandten der Eltern- und Großelterngeneration fanden sich 7 Heterozygote (MZ) und 5 Gesunde (MM). Die Genotypbestimmung korrelierte vollständig mit den Werten der Trypsinhemmkapazität im Serum, weniger gut jedoch mit den a1-Antitrypsinkonzentrationen. Bei 4 Heterozygoten fanden sich von der Norm abweichende Lungenfunktionsproben. In den Tränen aller Probanden war hohe Antiproteasenaktivität vorhanden, die jedoch immunologisch nicht mit dem a1-Antitrypsin des Serums identisch war. Auch die Antiproteasenaktivität des Nasensekretes spiegelt nicht die genetisch determinierten unterschiedlichen Serumkonzentrationen von a1-Antitrypsin wider.

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Authors and Affiliations

  1. Universitäts-Kinderklinik Bern und Immunologische Abteilung der Medizinischen Universitätsklinik Zürich, Switzerland

    D. Kaiser, O. M. Rennert, H. Joller-Jemelka, H. Götze, H. Sollberger & P. Kehrli

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  1. D. Kaiser
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  2. O. M. Rennert
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  3. H. Joller-Jemelka
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  4. H. Götze
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  5. H. Sollberger
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  6. P. Kehrli
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Mit Unterstützung des Schweizerischen Nationalfonds der „Roche Research Foundation for Scientific Exchange and Biomedical Collaboration with Switzerland“ und der NCFRF, USA.

Wir danken Herrn Prof. Bachofen, Pneumologische Abteilung der Medizinischen Universitätsklinik Bern für die freundliche Durchführung der Lungenfunktionsteste.

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Kaiser, D., Rennert, O.M., Joller-Jemelka, H. et al. a1-Antitrypsin-Mangel: Kombination von Lungenemphysem und Lebercirrhose im frühen Kindesalter. Klin Wochenschr 53, 117–124 (1975). https://doi.org/10.1007/BF01466714

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