Riassunto
Il deficit in α1-antitripsina è un difetto genetico relativamente comune, ed è stato stabilito che nella sua forma omozigote ricorre in una su 1.500 persone. Esso possiede interesse clinico ed è dotato di aspetto caratteristico all’elettroforesi. È soprattutto interessante la sua correlazione con l’enfisema ad insorgenza precoce, in cui è presente nel 100% dei casi. Questa sindrome sembra inoltre provocare, negli individui portatori, predisposizione alle epatopatie, in particolare alla cirrosi epatica giovanile. L’A. traccia un quadro riassuntivo delle conoscenze sull’argomento.
Summary
α1-antitrypsin deficiency is a relatively common genetic defect, which in its homozygous form has been estimated to occur in every 1,500th individual. It is of clinical interest and has a typical picture in electrophoresis. It is of interest, above all, owing to its almost 100% correlation with emphysema, when this disease makes an early onset. The condition also seems to predispose the individual concerned to liver disease, chiefly juvenile cirrhosis. The author summarizes our present knowledge in this sphere.
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Hood, B., Eriksson, S. α1-Antitrypsin deficiency. La Ricerca Clin. Lab. 4, 14–61 (1974). https://doi.org/10.1007/BF03055039
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DOI: https://doi.org/10.1007/BF03055039