Journal
CLINICS IN CHEST MEDICINE
Volume 37, Issue 3, Pages 505-+Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.ccm.2016.04.012
Keywords
Pulmonary fibrosis; Interstitial lung disease; Albinism; Biogenesis of lysosome-related organelle complex; Adaptor protein 3; Hermansky-Pudlak syndrome
Categories
Funding
- NIH/NHLBI [R01 HL119503]
- NIH/NCATS/NHLBI [U54 HL127672]
- ATS Foundation/American Lung Association
- NCATS
- National Heart, Lung, and Blood Institute
- Rare Lung Diseases Consortium is part of the Rare Diseases Clinical Research Network
- Office of Rare Diseases Research (ORDR)
- National Center for Advancing Translational Sciences (NCATS)
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Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diatheses, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4. HPS pulmonary fibrosis shows many of the clinical, radiologic, and histologic features found in idiopathic pulmonary fibrosis, but occurs at a younger age. Despite knowledge of the underlying genetic defects, there are currently no definitive therapeutic or preventive approaches for HPS pulmonary fibrosis other than lung transplant.
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