Hermansky-Pudlak syndrome complicated by pulmonary fibrosis.

@article{Carter2012HermanskyPudlakSC,
  title={Hermansky-Pudlak syndrome complicated by pulmonary fibrosis.},
  author={Brett W Carter},
  journal={Proceedings},
  year={2012},
  volume={25 1},
  pages={76-7}
}
A 45-year-old woman from Puerto Rico presented to the emergency department with progressively worsening dyspnea over a 3to 4-day period. She had been diagnosed with type 1 Hermansky-Pudlak syndrome complicated by pulmonary fi brosis 4 years earlier. Previous renal biopsy demonstrated nephrosclerosis secondary to HermanskyPudlak syndrome. A brother also had Hermansky-Pudlak syndrome complicated by pulmonary fi brosis. Despite receiving 6 L of oxygen via nasal cannula at home, her oxygen… CONTINUE READING