ArticleEuropean respiratory review : an official journal of the European Respiratory Society2021
Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease.
Article in European respiratory review : an official journal of the European Respiratory Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.
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The trial behind it
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Who cites it
33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 51 citations in OpenAlex.
- Guideline
- Clinical characteristics and prognostic factors of Hermansky-Pudlak syndrome with or without pulmonary fibrosis: a systematic review.Therapeutic advances in respiratory diseasePooled it
- Assessment of patient-reported symptoms in Hermansky-Pudlak syndrome.Molecular genetics and metabolism · 2026Article
- Case report: Double-lung transplantation for Hermansky-Pudlak syndrome-associated pulmonary fibrosis and early-stage lung cancer.Frontiers in immunology · 2026Article
- Genetic Determinants of Progressive Pulmonary Fibrosis: A Comprehensive Review.International journal of molecular sciences · 2025Review
- Organoids in Genetic Disorders: from Disease Modeling to Translational Applications.Stem cell reviews and reports · 2025Review
- A multi-omics-empowered framework for precision diagnosis and treatment of lysosomal diseases.Journal of pharmaceutical analysis · 2025Review
- Spontaneous mutant in threespine stickleback connects endosome trafficking disorders and inflammatory bowel diseases via changes in the gut microbiome.bioRxiv : the preprint server for biology · 2025Article
- The necessity of geneticist and pulmonologist collaboration in the treatment of monogenic interstitial lung diseases in adults.Breathe (Sheffield, England) · 2025Review
- Review
- Insights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse model.FEBS letters · 2025Article
- Anandamide Is a Potential Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis.American journal of respiratory and critical care medicine · 2025Article
- Hermansky-Pudlak Syndrome Type 1 Presenting with Interstitial Lung Disease: A Report of a Rare Case from Saudi Arabia.The American journal of case reports · 2025Article
- Emergence of inflammatory fibroblasts with aging in Hermansky-Pudlak syndrome associated pulmonary fibrosis.Communications biology · 2025Article
- Impairment of Renal Function in Hermansky-Pudlak Syndrome.American journal of nephrology · 2025Article
- A 29-Year-Old Man With Type 2 Hermansky-Pudlak Syndrome and Wolff-Parkinson-White Syndrome: The Hypothesis of a Potential Link Between These Two Conditions.Case reports in medicine · 2025Article
- Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone.Internal medicine (Tokyo, Japan) · 2024Article
- Application of Forced Oscillation Technique in Assessing Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.Advances in respiratory medicine · 2024Article
- The faces of Long-COVID: interplay of symptom burden with socioeconomic, behavioral and healthcare factors.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2024Article
- Rare interstitial lung diseases: a narrative review.Journal of thoracic disease · 2024Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.