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

Pulmonary fibrosis is a progressive interstitial lung disease of unknown aetiology with a poor prognosis. Studying genetic diseases associated with pulmonary fibrosis provides insights into the pathogenesis of the disease. Hermansky–Pudlak syndrome (HPS), a rare autosomal recessive disorder characte...

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Autores principales: Yokoyama, Tadafumi, Gochuico, Bernadette R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: European Respiratory Society 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9488956/
https://www.ncbi.nlm.nih.gov/pubmed/33536261
http://dx.doi.org/10.1183/16000617.0193-2020
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author Yokoyama, Tadafumi
Gochuico, Bernadette R.
author_facet Yokoyama, Tadafumi
Gochuico, Bernadette R.
author_sort Yokoyama, Tadafumi
collection PubMed
description Pulmonary fibrosis is a progressive interstitial lung disease of unknown aetiology with a poor prognosis. Studying genetic diseases associated with pulmonary fibrosis provides insights into the pathogenesis of the disease. Hermansky–Pudlak syndrome (HPS), a rare autosomal recessive disorder characterised by abnormal biogenesis of lysosome-related organelles, manifests with oculocutaneous albinism and excessive bleeding of variable severity. Pulmonary fibrosis is highly prevalent in three out of 10 genetic types of HPS (HPS-1, HPS-2 and HPS-4). Thus, genotyping of individuals with HPS is clinically relevant. HPS-1 tends to affect Puerto Rican individuals due to a genetic founder effect. HPS pulmonary fibrosis shares some clinical features with idiopathic pulmonary fibrosis (IPF), including dyspnoea, cough, restrictive lung physiology and computed tomography (CT) findings of fibrosis. In contrast to IPF, HPS pulmonary fibrosis generally affects children (HPS-2) or middle-aged adults (HPS-1 or HPS-4) and may be associated with ground-glass opacification in CT scans. Histopathology of HPS pulmonary fibrosis, and not IPF, shows vacuolated hyperplastic type II cells with enlarged lamellar bodies and alveolar macrophages with lipofuscin-like deposits. Antifibrotic drugs approved as treatment for IPF are not approved for HPS pulmonary fibrosis. However, lung transplantation has been performed in patients with severe HPS pulmonary fibrosis. HPS pulmonary fibrosis serves as a model for studying fibrotic lung disease and fibrosis in general.
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spelling pubmed-94889562022-11-14 Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease Yokoyama, Tadafumi Gochuico, Bernadette R. Eur Respir Rev Series Pulmonary fibrosis is a progressive interstitial lung disease of unknown aetiology with a poor prognosis. Studying genetic diseases associated with pulmonary fibrosis provides insights into the pathogenesis of the disease. Hermansky–Pudlak syndrome (HPS), a rare autosomal recessive disorder characterised by abnormal biogenesis of lysosome-related organelles, manifests with oculocutaneous albinism and excessive bleeding of variable severity. Pulmonary fibrosis is highly prevalent in three out of 10 genetic types of HPS (HPS-1, HPS-2 and HPS-4). Thus, genotyping of individuals with HPS is clinically relevant. HPS-1 tends to affect Puerto Rican individuals due to a genetic founder effect. HPS pulmonary fibrosis shares some clinical features with idiopathic pulmonary fibrosis (IPF), including dyspnoea, cough, restrictive lung physiology and computed tomography (CT) findings of fibrosis. In contrast to IPF, HPS pulmonary fibrosis generally affects children (HPS-2) or middle-aged adults (HPS-1 or HPS-4) and may be associated with ground-glass opacification in CT scans. Histopathology of HPS pulmonary fibrosis, and not IPF, shows vacuolated hyperplastic type II cells with enlarged lamellar bodies and alveolar macrophages with lipofuscin-like deposits. Antifibrotic drugs approved as treatment for IPF are not approved for HPS pulmonary fibrosis. However, lung transplantation has been performed in patients with severe HPS pulmonary fibrosis. HPS pulmonary fibrosis serves as a model for studying fibrotic lung disease and fibrosis in general. European Respiratory Society 2021-02-03 /pmc/articles/PMC9488956/ /pubmed/33536261 http://dx.doi.org/10.1183/16000617.0193-2020 Text en The content of this work is not subject to copyright. Design and branding are copyright ©ERS 2021. https://creativecommons.org/licenses/by-nc/4.0/This version is distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0.
spellingShingle Series
Yokoyama, Tadafumi
Gochuico, Bernadette R.
Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease
title Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease
title_full Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease
title_fullStr Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease
title_full_unstemmed Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease
title_short Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease
title_sort hermansky–pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease
topic Series
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9488956/
https://www.ncbi.nlm.nih.gov/pubmed/33536261
http://dx.doi.org/10.1183/16000617.0193-2020
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