Abstract
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.
Keywords:
Adaptor protein 3; Albinism; Biogenesis of lysosome-related organelle complex; Hermansky-Pudlak syndrome; Interstitial lung disease; Pulmonary fibrosis.
Copyright © 2016 Elsevier Inc. All rights reserved.
Publication types
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Research Support, N.I.H., Extramural
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Review
MeSH terms
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Albinism / complications
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Albinism / physiopathology
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Albinism, Oculocutaneous / etiology
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Albinism, Oculocutaneous / physiopathology
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Arteriovenous Malformations / etiology
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Arteriovenous Malformations / physiopathology*
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Blood Coagulation Disorders / etiology
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Blood Coagulation Disorders / physiopathology*
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Crohn Disease / etiology
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Crohn Disease / physiopathology
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Epistaxis / etiology
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Epistaxis / physiopathology
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Gastrointestinal Diseases / etiology
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Gastrointestinal Diseases / physiopathology
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Hemorrhagic Disorders / complications
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Hemorrhagic Disorders / physiopathology
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Hermanski-Pudlak Syndrome / complications
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Hermanski-Pudlak Syndrome / physiopathology*
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Humans
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Hypertension, Pulmonary / etiology
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Hypertension, Pulmonary / physiopathology*
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Intracranial Arteriovenous Malformations / etiology
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Intracranial Arteriovenous Malformations / physiopathology*
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Liver Diseases / etiology
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Liver Diseases / physiopathology
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Pulmonary Artery / abnormalities
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Pulmonary Fibrosis / etiology
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Pulmonary Fibrosis / physiopathology*
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Pulmonary Veins / abnormalities
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Telangiectasis / etiology
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Telangiectasis / physiopathology
Supplementary concepts
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Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
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Hermansky Pudlak syndrome 2