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  • Title: [Liver diseases in alpha 1 antitrypsin deficiency syndrome in children].
    Author: Cario WR.
    Journal: Gastroenterol J; 1990; 49(4):141-50. PubMed ID: 2331311.
    Abstract:
    About 15% of children with alpha-1-antitrypsin-deficiency with proteinase inhibitor type ZZ develop hepatopathy, uninfluenceable in its course. These children already show symptoms of severe cholestatic hepatitis in early infancy as became obvious from data of 13 children being patients in the authors care and suffering from hepatic cirrhosis with alpha-1-antitrypsin-deficiency. At present liver transplantation is the only causal possibility of therapy. Even without highly specialized laboratory the non-laboratory assistant will recognize at least the homozygous alpha-1-antitrypsin-deficiency (PI-ZZ). The therapeutic approach must be directed on treating the patients in such a way that liver transplantation will be possible at a favourable moment and under good conditions. Since PI-ZZ family members suffer similar course of hepatopathy, genetic counsel is of special significance.
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