AI Article Synopsis
- Hermansky-Pudlak syndrome (HPS)-associated pulmonary fibrosis (HPS-PF) is a serious lung disease that significantly impacts the health of HPS patients and is linked to problems in specialized lung cells and immune responses.
- Recent studies have shown that the proteins involved in HPS are crucial for the function of these lung cells, but the exact causes of HPS-PF and effective treatments are still not well understood.
- This review highlights recent findings on the mechanisms behind HPS-PF and discusses current treatment options, aiming to enhance our knowledge and inspire new therapeutic approaches.
Article Abstract
Hermansky-Pudlak syndrome (HPS)-associated pulmonary fibrosis (HPS-PF) is a progressive lung disease that is a major cause of morbidity and mortality in HPS patients. Previous studies have demonstrated that the HPS proteins play an essential role in the biogenesis and function of lysosome-related organelles (LROs) in alveolar epithelial type II (AT2) cells and found that HPS-PF is associated with dysfunction of AT2 cells and abnormal immune reactions. Despite recent advances in research on HPS and the pathology of HPS-PF, the pathological mechanisms underlying HPS-PF remain poorly understood, and no effective treatment has been established. Therefore, it is necessary to refresh the progress in the pathogenesis of HPS-PF to increase our understanding of the pathogenic mechanism of HPS-PF and develop targeted therapeutic strategies. This review summarizes the recent progress in the pathogenesis of HPS-PF provides information about the current treatment strategies for HPS-PF, and hopefully increases our understanding of the pathogenesis of HPS-PF and offers thoughts for new therapeutic interventions.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11508683 | PMC |
| http://dx.doi.org/10.3390/ijms252011270 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Pathogenesis and Therapy of Hermansky-Pudlak Syndrome (HPS)-Associated Pulmonary Fibrosis.
Int J Mol Sci
October 2024
School of Medicine, Jiangsu University, 301 Xuefu Road, Zhenjiang 212013, China.
Article Synopsis
- Hermansky-Pudlak syndrome (HPS)-associated pulmonary fibrosis (HPS-PF) is a serious lung disease that significantly impacts the health of HPS patients and is linked to problems in specialized lung cells and immune responses.
- Recent studies have shown that the proteins involved in HPS are crucial for the function of these lung cells, but the exact causes of HPS-PF and effective treatments are still not well understood.
- This review highlights recent findings on the mechanisms behind HPS-PF and discusses current treatment options, aiming to enhance our knowledge and inspire new therapeutic approaches.
CB R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky-Pudlak syndrome.
Clin Transl Med
July 2021
Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder which, in its most common and severe form, HPS-1, leads to fatal adult-onset pulmonary fibrosis (PF) with no effective treatment. We evaluated the role of the endocannabinoid/CB R system and inducible nitric oxide synthase (iNOS) for dual-target therapeutic strategy using human bronchoalveolar lavage fluid (BALF), lung samples from patients with HPS and controls, HPS-PF patient-derived lung fibroblasts, and bleomycin-induced PF in pale ear mice (HPS1 ). We found overexpression of CB R and iNOS in fibrotic lungs of HPSPF patients and bleomycin-infused pale ear mice.
View Article and Find Full Text PDFHermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics.
Front Pharmacol
March 2021
Department of Molecular Microbiology and Immunology, Brown University, Providence, RI, United States.
Hermansky-Pudlak Syndrome (HPS) is a rare, genetic, multisystem disorder characterized by oculocutaneous albinism (OCA), bleeding diathesis, immunodeficiency, granulomatous colitis, and pulmonary fibrosis. HPS pulmonary fibrosis (HPS-PF) occurs in 100% of patients with subtype HPS-1 and has a similar presentation to idiopathic pulmonary fibrosis. Upon onset, individuals with HPS-PF have approximately 3 years before experiencing signs of respiratory failure and eventual death.
View Article and Find Full Text PDFHermansky-Pudlak syndrome-associated pneumothorax with rapid progression of respiratory failure: a case report.
BMC Pulm Med
October 2020
Department of Respiratory Medicine, Juntendo University Graduate School of Medicine, 3-1-3 Hongo, Bunkyo-Ku, Tokyo, 113-8431, Japan.
Background: Hermansky-Pudlak syndrome (HPS) is an extremely rare disease with pulmonary fibrosis (PF), oculocutaneous albinism, induced platelet dysfunction, and granulomatous colitis. Although patients with HPS-associated PF (HPS-PF) often receive treatment with anti-fibrotic agents, including pirfenidone, many HPS-PF cases are progressive. The development of pneumothorax is known to be rare in HPS-PF.
View Article and Find Full Text PDFHermansky-Pudlak Syndrome.
Semin Respir Crit Care Med
April 2020
Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Hermansky-Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis (PF) in some HPS subtypes. During middle adulthood, ground-glass opacities, reticulation, and traction bronchiectasis develop with progression of PF. HPS is an orphan disease occurring in 1 in 500,000 to 1,000,000 individuals worldwide, though the prevalence is 1 in 1,800 in individuals with Puerto Rican heritage.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!