ReviewAnnals of the American Thoracic Society2016
Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.
Review in Annals of the American Thoracic Society, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 73 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
73 citing papers in PubMed, 1 synthesis or guideline pooled it, 115 citations in OpenAlex.
- Clinical characteristics and prognostic factors of Hermansky-Pudlak syndrome with or without pulmonary fibrosis: a systematic review.Therapeutic advances in respiratory diseasePooled it
- Co-optation of the regenerative role of type 2 alveolar cells in distal lung repair in mice by terminal airway epithelial cells in humans.bioRxiv : the preprint server for biology · 2026Article
- MRC2-mediated collagen internalization is reduced in fibrotic lung fibroblasts and increased upon phenotypic dedifferentiation.JCI insight · 2026Article
- Advances in our understanding of distal progenitors in idiopathic pulmonary fibrosis: implications for novel therapeutics.The European respiratory journal · 2026Review
- Human respiratory airway progenitors derived from pluripotent cells generate alveolar epithelial cells and model pulmonary fibrosis.Nature biotechnology · 2026Article
- Case Report: Hermansky-Pudlak syndrome type 1 with pulmonary involvement in a 62-year-old Caucasian woman with rheumatoid arthritis.Frontiers in immunology · 2026Article
- Genetic Determinants of Progressive Pulmonary Fibrosis: A Comprehensive Review.International journal of molecular sciences · 2025Review
- Molecular diagnosis of inherited platelet disorders: a tale of two realities - advanced vs. resource-limited setting.Thrombosis journal · 2025Review
- [Pulmonary involvement in rare systemic diseases-part 2 : Pulmonary manifestations in the context of lysosomal and metabolic storage diseases, phacomatosis, and neuromuscular disorders].Radiologie (Heidelberg, Germany) · 2025Article
- The necessity of geneticist and pulmonologist collaboration in the treatment of monogenic interstitial lung diseases in adults.Breathe (Sheffield, England) · 2025Review
- Hermansky-Pudlak Syndrome in the United States.Chest · 2025Article
- Age-related neutrophil activation in Hermansky-Pudlak Syndrome Type-1.Orphanet journal of rare diseases · 2025Article
- Review
- Emergence of inflammatory fibroblasts with aging in Hermansky-Pudlak syndrome associated pulmonary fibrosis.Communications biology · 2025Article
- Histological Findings of ETosis in Hermansky-Pudlak Syndrome with Pulmonary Fibrosis: A Follow-Up Case Report.Journal of chest surgery · 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
- Application of Forced Oscillation Technique in Assessing Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.Advances in respiratory medicine · 2024Article
- Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.International journal of molecular sciences · 2024Article
- Pathogenesis and Therapy of Hermansky-Pudlak Syndrome (HPS)-Associated Pulmonary Fibrosis.International journal of molecular sciences · 2024Review
- Rare interstitial lung diseases: a narrative review.Journal of thoracic disease · 2024Review
13 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder characterized by oculocutaneous albinism and a bleeding diathesis due to platelet dysfunction. More than 50% of cases worldwide are diagnosed on the Caribbean island of Puerto Rico. Genetic testing plays a growing role in diagnosis; however, not all patients with HPS have identified genetic mutations. In Puerto Rico, patients with HPS are often identified shortly after birth by their albinism, although the degree of hypopigmentation is highly variable. Ten subtypes have been described. Patients with HPS-1, HPS-2, and HPS-4 tend to develop pulmonary fibrosis in Puerto Rico; 100% of patients with HPS-1 develop HPS-PF. HPS-PF and idiopathic pulmonary fibrosis are considered similar entities (albeit with distinct causes) because both can show similar histological disease patterns. However, in contrast to idiopathic pulmonary fibrosis, HPS-PF manifests much earlier, often at 30-40 years of age. The progression of HPS-PF is characterized by the development of dyspnea and increasingly debilitating hypoxemia. No therapeutic interventions are currently approved by the U.S. Food and Drug Administration for the treatment of HPS and HPS-PF. However, the approval of two new antifibrotic drugs, pirfenidone and nintedanib, has prompted new interest in identifying drugs capable of reversing or halting the progression of HPS-PF. Thus, lung transplantation remains the only potentially life-prolonging treatment. At present, two clinical trials are recruiting patients with HPS-PF to identify biomarkers for disease progression. Advances in the diagnosis and management of these patients will require the establishment of multidisciplinary centers of excellence staffed by experts in this disease.
Indexed as
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What OpenQuestion holds
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.