[Pneumothorax as an early indication for a genetic disorder]

Lore van Riel1,2, Irma van de Beek3, Rob M F Wolthuis1

  • 1Amsterdam UMC, afd. Humane Genetica, Amsterdam.

Summary

Spontaneous pneumothorax can indicate underlying hereditary disorders. Early diagnosis through clinical evaluation and DNA testing benefits patients and families, enabling crucial screenings like for kidney cancer.

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Pneumothorax can be even further classified as spontaneous, traumatic, and tension pneumothorax.
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