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[Alpha-antitrypsin deficiency in infancy].

R Exss, H W Rotthauwe, P J Schattenberg

    Deutsche Medizinische Wochenschrift (1946)
    |February 7, 1975
    PubMed
    Summary
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    Alpha1-antitrypsin deficiency in infants presents as neonatal biliary stasis. Liver cells accumulate abnormal alpha1-antitrypsin protein aggregates, indicating a genetic liver disease.

    Area of Science:

    • Hepatology
    • Genetics
    • Immunology

    Context:

    • Alpha1-antitrypsin deficiency (AATD) is a genetic disorder.
    • Neonatal cholestasis can be a manifestation of AATD.
    • Liver disease progression in AATD varies significantly.

    Purpose:

    • To investigate the clinical, histological, and genetic features of alpha1-antitrypsin deficiency in two infants.
    • To characterize the ultrastructural and immunohistochemical findings of liver pathology in neonatal AATD.
    • To confirm the genetic basis and inheritance pattern of AATD in affected families.

    Summary:

    • Two infants with protease inhibitor (Pi) ZZ phenotype presented with neonatal biliary stasis.
    • Liver biopsies showed cytoplasmic inclusions positive for alpha1-antitrypsin within the endoplasmic reticulum.

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  • Histological and genetic studies confirmed autosomal co-dominant inheritance of the PiZ gene.

    • Impact:

    • This study highlights the importance of considering AATD in neonatal cholestasis.
    • Understanding the cellular mechanisms of AATD provides insights into protein misfolding diseases.
    • Early identification and genetic counseling are crucial for families affected by AATD.