[Hermansky-Pudlak syndrome in 2 brothers with lung fibrosis]

Pneumologie. 1990 Feb:44 Suppl 1:563-4.
[Article in German]

Abstract

This is a report on two brothers with the Hermansky-Pudlak syndrome who developed pulmonary fibrosis. In the first, a gradual course lasting 13 years was observed, the patient finally died of long-standing colitis. His brother died of progressive respiratory failure 15 months after the subjective onset of the disease. Immunosuppressive therapy proved ineffective.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Biopsy
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Genes, Recessive*
  • Humans
  • Lung / pathology
  • Male
  • Pulmonary Fibrosis / genetics*
  • Syndrome