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Alpha 1-antitrypsin deficiency.

M L Ellett

    Gastroenterology Nursing : the Official Journal of the Society of Gastroenterology Nurses and Associates
    |December 1, 1991
    PubMed
    Summary

    Alpha-1 Antitrypsin Deficiency (AATD) causes liver disease in children and emphysema in adults. Replacement therapy with human alpha 1-protease inhibitor may halt lung damage in AATD patients.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Pulmonology

    Background:

    • Alpha-1 Antitrypsin (AAT) is a polymorphic protein, with common alleles M, S, and Z.
    • Alpha-1 Antitrypsin Deficiency (AATD) results from inherited AAT variants, leading to abnormal protein accumulation and reduced serum levels.
    • AATD is linked to pediatric liver disease and adult-onset emphysema, exacerbated by smoking.

    Purpose of the Study:

    • To review the pathophysiology and current therapeutic strategies for Alpha-1 Antitrypsin Deficiency.
    • To evaluate the efficacy of replacement therapy in managing AATD-associated pulmonary damage.

    Main Methods:

    • Review of existing literature on AATD genetics, clinical manifestations, and treatment options.
    • Analysis of data regarding the effectiveness of Prolastin (human alpha 1-protease inhibitor) in AATD patients.

    Main Results:

    • Infants with PiZZ genotype have significantly reduced AAT serum concentrations (approx. 16% of normal).
    • Weekly intravenous Prolastin administration aims to maintain serum AAT levels above 80 mg/dl, showing promise in arresting pulmonary damage.
    • The impact of Prolastin on AATD-related liver disease remains undetermined. Early results of aerosolized recombinant alpha 1-protease inhibitor are promising.

    Conclusions:

    • AATD is an inherited metabolic disorder with significant pulmonary and hepatic consequences.
    • Intravenous replacement therapy with human alpha 1-protease inhibitor appears effective in halting lung damage progression in AATD.
    • Further research is needed to ascertain the effects on liver disease and explore novel delivery methods like aerosolized inhibitors.

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