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Related Experiment Videos

Cockayne's syndrome and emphysema.

M Cunningham, S Godfrey, W M Moffat

    Archives of Disease in Childhood
    |September 1, 1978
    PubMed
    Summary

    A child with Cockayne syndrome developed severe lung disease, including emphysema and fixed airways obstruction. This was likely worsened by a mild genetic deficiency in alpha-1-antitrypsin, a protein that protects the lungs.

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    Area of Science:

    • Pediatric Pulmonology
    • Medical Genetics
    • Rare Diseases

    Background:

    • Cockayne syndrome is a rare premature aging disorder with diverse clinical manifestations.
    • Severe respiratory complications, such as emphysema and airway obstruction, are not typically highlighted features of Cockayne syndrome.
    • Alpha-1-antitrypsin deficiency is a known genetic risk factor for emphysema.