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Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease

Tadafumi Yokoyama, Bernadette R. Gochuico
European Respiratory Review 2021 30: 200193; DOI: 10.1183/16000617.0193-2020
Tadafumi Yokoyama
1Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
2Dept of Pediatrics, Kanazawa University, Kanazawa, Japan
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Bernadette R. Gochuico
1Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
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  • For correspondence: gochuicb@mail.nih.gov
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  • FIGURE 1
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    FIGURE 1

    Clinical features of Hermansky–Pudlak syndrome (HPS). a, b) Hypopigmentation of a) hair and b) skin and iris of a Puerto Rican male. c) δ-granules are absent in platelets from a patient with HPS-1 imaged using whole-mount transmission electron microscopy. Scale bar: 2 μm. d) Bilateral interstitial infiltrates are found in a chest radiograph of a 50-year-old female with HPS pulmonary fibrosis. e) Fibrotic lung tissue stained with haematoxylin and eosin and f) unstained renal epithelial cells isolated from urine derived from a subject with HPS-1 show abnormal intracellular deposits. Scale bar: 20 μm.

  • FIGURE 2
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    FIGURE 2

    Relationships of protein complexes involved in Hermansky–Pudlak syndrome (HPS), biogenesis of intracellular organelles and clinical manifestations of disease. Four stages (I–IV) of melanosome maturation and platelet δ-granule (dense granule), lamellar body and lysosome formation via the endosomal pathway from the TGN are shown. Defects in these vesicles are associated with oculocutaneous albinism, bleeding diathesis, pulmonary fibrosis and excessive cellular deposits in HPS. Protein complexes associated with HPS, including AP-3, BLOC-1, BLOC-2 and BLOC-3, and a Rab32/38 guanine nucleotide exchange factor comprised of HPS1 and HPS4 protein subunits, are involved in the formation of melanosomes, platelet δ-granules, lamellar bodies and lysosomes. TGN: trans-Golgi network; AP: adaptor protein; BLOC: biogenesis of lysosome-related organelles complex.

  • FIGURE 3
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    FIGURE 3

    Computed tomography (CT) scan and histopathological images of Hermansky–Pudlak syndrome (HPS) pulmonary fibrosis. a) Supine and b) prone CT scan images of a 47-year-old subject with moderate HPS pulmonary fibrosis show bilateral ground-glass opacities, reticulations and honeycombing. c) CT scan image of a 38-year-old subject with HPS pulmonary fibrosis demonstrates bilateral ground-glass opacities, traction bronchiectasis, reticulations and honeycombing. d) Aggregates of foamy alveolar macrophages, vacuolated hyperplastic type II alveolar epithelial cells containing enlarged lamellar bodies, and interstitial accumulation of cells and extracellular matrix are found in lung tissue from a subject with HPS pulmonary fibrosis. Haematoxylin and eosin staining. Scale bar: 20 μm.

Tables

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  • TABLE 1

    Hermansky–Pudlak syndrome (HPS)-associated genes, loci, proteins and complexes

    HPS typeGene#LocusProteinComplex
    HPS-1HPS110q23.1HPS1BLOC-3
    HPS-2AP3B15q14.1AP-3 complex β3A subunitAP-3
    HPS-3HPS33q24HPS3BLOC-2
    HPS-4HPS422q11.2–q12.2HPS4BLOC-3
    HPS-5HPS511p15–p13HPS5BLOC-2
    HPS-6HPS610q24.3HPS6BLOC-2
    HPS-7DTNBP16p22.3DysbindinBLOC-1
    HPS-8BLOC1S319q13BLOC-1 subunit 3BLOC-1
    HPS-9PLDN15q15PallidinBLOC-1
    HPS-10AP3D119p13.3AP-3 complex δ1 subunitAP-3

    AP: adaptor protein; BLOC: biogenesis of lysosome-related organelles complex. #: see www.genecards.org for aliases.

    • TABLE 2

      Clinical features of Hermansky–Pudlak syndrome (HPS) pulmonary fibrosis and idiopathic pulmonary fibrosis (IPF)

      HPS-1 or HPS-4 pulmonary fibrosisHPS-2 pulmonary fibrosisIPF
      Onset of pulmonary symptomsMiddle ageChildren or young adults>50 years of age
      Acute exacerbationsYesUnknownYes
      Oculocutaneous albinismYesYesNo
      NystagmusYesYesNo
      Excessive bleedingYesYesNo
      HRCT scan finding of ground-glass opacificationYesYesNo
      Type II epithelial cell enlargementYesYesNo
      Giant lamellar bodiesYesYesNo
      Foamy alveolar macrophagesYesUnknownNo
      Ceroid lipofuscin tissue depositionYesYesNo
      Pulmonary histopathologyUIP, NSIP, DADUIP, NSIP, DIPUIP

      HRCT: high-resolution computed tomography; UIP: usual interstitial pneumonia; NSIP: nonspecific interstitial pneumonia; DAD: diffuse alveolar damage; DIP: desquamative interstitial pneumonitis.

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      Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease
      Tadafumi Yokoyama, Bernadette R. Gochuico
      European Respiratory Review Mar 2021, 30 (159) 200193; DOI: 10.1183/16000617.0193-2020

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      Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease
      Tadafumi Yokoyama, Bernadette R. Gochuico
      European Respiratory Review Mar 2021, 30 (159) 200193; DOI: 10.1183/16000617.0193-2020
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      • Article
        • Abstract
        • Abstract
        • Introduction
        • Genetics of HPS pulmonary fibrosis
        • Pathobiology of HPS
        • Clinical features of HPS pulmonary fibrosis
        • Diagnosis, management and treatment of HPS pulmonary fibrosis
        • Conclusions
        • Acknowledgements
        • Footnotes
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