title: Hermansky-Pudlak Syndrome.
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.
authors: Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.
authors: Souheil
authors: S
authors: El-Chemaly
authors: Division of Pulmonary Medicine, Department of Pediatrics, Vanderbilt University School of Medicine, 2200 Children's Way, Doctor's Office Tower 11215, Nashville, TN 37232, USA; Division of Allergy, Pulmonary, and Critical Care, Department of Medicine, Vanderbilt University School of Medicine, 1161 21st Avenue South, B-1220 Medical Center North, Nashville, TN 37232, USA. Electronic address: lisa.young@vanderbilt.edu.
authors: Lisa R
authors: LR
authors: Young
mesh_terms: D000417:Albinism / Q000150:complications / Q000503:physiopathology; D016115:Albinism, Oculocutaneous / Q000209:etiology / Q000503:physiopathology; D001165:Arteriovenous Malformations / Q000209:etiology / Q000503:physiopathology*; D001778:Blood Coagulation Disorders / Q000209:etiology / Q000503:physiopathology*; D003424:Crohn Disease / Q000209:etiology / Q000503:physiopathology; D004844:Epistaxis / Q000209:etiology / Q000503:physiopathology; D005767:Gastrointestinal Diseases / Q000209:etiology / Q000503:physiopathology; D006474:Hemorrhagic Disorders / Q000150:complications / Q000503:physiopathology; D022861:Hermanski-Pudlak Syndrome / Q000150:complications / Q000503:physiopathology*; D006801:Humans; D006976:Hypertension, Pulmonary / Q000209:etiology / Q000503:physiopathology*; D002538:Intracranial Arteriovenous Malformations / Q000209:etiology / Q000503:physiopathology*; D008107:Liver Diseases / Q000209:etiology / Q000503:physiopathology; D011651:Pulmonary Artery / Q000002:abnormalities; D011658:Pulmonary Fibrosis / Q000209:etiology / Q000503:physiopathology*; D011667:Pulmonary Veins / Q000002:abnormalities; D013684:Telangiectasis / Q000209:etiology / Q000503:physiopathology
keywords: Adaptor protein 3; Albinism; Biogenesis of lysosome-related organelle complex; Hermansky-Pudlak syndrome; Interstitial lung disease; Pulmonary fibrosis