Hermansky-Pudlak Syndrome - 10/08/16

Doi : 10.1016/j.ccm.2016.04.012

Souheil El-Chemaly, MD, MPH ^a, Lisa R. Young, MD ^b,^c,^⁎
^a Division of Pulmonary and Critical Care Medicine, Brigham and Women’s Hospital, Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA
^b 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
^c 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

^∗Corresponding author. Division of Pulmonary Medicine, Vanderbilt University Medical Center, 2200 Children’s Way, Doctor’s Office Tower 11215, Nashville, TN 37232.Division of Pulmonary MedicineVanderbilt University Medical Center2200 Children’s WayDoctor’s Office Tower 11215NashvilleTN37232

Résumé

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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Keywords : Pulmonary fibrosis, Interstitial lung disease, Albinism, Biogenesis of lysosome-related organelle complex, Adaptor protein 3, Hermansky-Pudlak syndrome

Plan

Diagnosis of Interstitial Lung Disease

Natural history and prognosis

Clinical management

Management of Pulmonary Disease

Pirfenidone in Hermansky-Pudlak Syndrome with Pulmonary Fibrosis

Lung Transplantation

Additional Recommendations for Pulmonary Management

Management of Extrapulmonary Complications

Future directions

Summary

Disclosure: The authors have nothing to disclose.

Funding: NIH/NHLBIR01 HL119503, NIH/NCATS/NHLBIU54 HL127672 (L.R. Young). The Rare Lung Diseases Consortium is part of the Rare Diseases Clinical Research Network, an initiative of the Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS), with funding through collaboration between NCATS and the National Heart, Lung, and Blood Institute. S. El-Chemaly receives research grant funding from the ATS Foundation/American Lung Association.