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α–Antitrypsin Deficiency

Authors

  • Daniel Alagille

    Corresponding author
    1. Unité de Recherche d'Hépatologie Infantile, INSERM U 56 and Clinique de Pédiatrie, Uniuersité Paris-Sud, Département de Pédiatrie, Hǒpital de Bicětre, 78 rue du Général-Leclerc, 94270 he Kremlin-Bicětre, France
    • Daniel Alagille, M.D., Clinique de Pédiatrie, Université Paris-Sud, Département de Pédiatrie, Hǒpital de Bicétre, 78 rue du Général-LecLerc, 94270 Le Kremlin-Bicětre, France.
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Abstract

Liver disease related to a–1–antitrypsin deficiency occurs only in Pi ZZ homozygous children. Eleven per cent of Pi ZZ infants present with prolonged neonatal cholestasis. In our group, 25 of 45 Pi ZZ infants with prolonged neonatal cholestasis presented with later cirrhosis. Persistence of jaundice beyond the sixth month of age, early development of splenomegaly, persistence of hard hepatomegaly and liver function abnormalities, and early portal fibrosis have a poor prognostic significance. The most severe course occurs in infants with an early histologic pattern of paucity of interlobular bile ducts. Portal hypertension was present in 19 of 25 children presenting with cirrhosis; 8 of 25 Pi ZZ children with cirrhosis died during childhood.

Long-term protein-restricted diet and portal systemic shunts were helpful in treatment of four Pi ZZ children with cirrhosis; however, the long-term course in Pi ZZ children with cirrhosis is unpredictable.

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