• Clinics in chest medicine · Sep 2016

    Review

    Hermansky-Pudlak Syndrome.

    • Souheil El-Chemaly and Lisa R Young.
    • Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.
    • Clin. Chest Med. 2016 Sep 1; 37 (3): 505-11.

    AbstractHermansky-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.Copyright © 2016 Elsevier Inc. All rights reserved.

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