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Cockayne's syndrome and emphysema
Archives of Disease in Childhood
|September 1, 1978
Insights
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.
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.
Abstract:
A 5-year-old boy with Cockayne's syndrome is described. In addition to the recognised clinical features, he presented with severe fixed airways obstruction, and investigations confirmed clinical and physiological emphysema. In a disorder associated with many of the features of aging, it is probably that the presence of relative alpha-1-antitrypsin deficiency (1.5 g/l) in a child with PiMZ phenotype, contributed to his severe lung disease.