Hermansky-Pudlak Syndrome: An unusual pattern of pulmonary fibrosis
Hermansky-Pudlak Syndrome is a rare genetic cause of pulmonary fibrosis, associated with albinism, nystagmus, and a bleeding diathesis. Histologically, Hermansky-Pudlak Syndrome Pulmonary Fibrosis (HPS-PF) typically resembles usual interstitial pneumonia (UIP), however radiologically this is not alw...
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Elsevier
2024-01-01
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| Series: | Respiratory Medicine Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213007124001461 |
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| author | Matthew Donnan Samantha Ellis Ian Glaspole |
| author_facet | Matthew Donnan Samantha Ellis Ian Glaspole |
| author_sort | Matthew Donnan |
| collection | DOAJ |
| description | Hermansky-Pudlak Syndrome is a rare genetic cause of pulmonary fibrosis, associated with albinism, nystagmus, and a bleeding diathesis. Histologically, Hermansky-Pudlak Syndrome Pulmonary Fibrosis (HPS-PF) typically resembles usual interstitial pneumonia (UIP), however radiologically this is not always the case with a range of features described in the current literature. HPS-PF typically occurs earlier in life than idiopathic pulmonary fibrosis (IPF) and there is limited evidence to support the use of antifibrotic therapy. Given the rarity and potential clinical outcomes of the disease, further research is required. This may be aided by the inclusion of patient with HPS-PF in registry databases. |
| format | Article |
| id | doaj-art-5e93babbdf5745d2baf587de782d32d2 |
| institution | OA Journals |
| issn | 2213-0071 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Respiratory Medicine Case Reports |
| spelling | doaj-art-5e93babbdf5745d2baf587de782d32d22025-08-20T02:38:11ZengElsevierRespiratory Medicine Case Reports2213-00712024-01-015210212310.1016/j.rmcr.2024.102123Hermansky-Pudlak Syndrome: An unusual pattern of pulmonary fibrosisMatthew Donnan0Samantha Ellis1Ian Glaspole2Department of Respiratory Medicine, Alfred Health, Melbourne, AustraliaDepartment of Radiology, Alfred Health, Melbourne, Australia; Department of Surgery, Monash University, Alfred Health, Melbourne, AustraliaDepartment of Respiratory Medicine, Alfred Health, Melbourne, Australia; Central Clinical School, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Australia; Corresponding author. Department of Respiratory Medicine, Alfred Health, 55 Commercial Rd, Melbourne, 3004, Australia.Hermansky-Pudlak Syndrome is a rare genetic cause of pulmonary fibrosis, associated with albinism, nystagmus, and a bleeding diathesis. Histologically, Hermansky-Pudlak Syndrome Pulmonary Fibrosis (HPS-PF) typically resembles usual interstitial pneumonia (UIP), however radiologically this is not always the case with a range of features described in the current literature. HPS-PF typically occurs earlier in life than idiopathic pulmonary fibrosis (IPF) and there is limited evidence to support the use of antifibrotic therapy. Given the rarity and potential clinical outcomes of the disease, further research is required. This may be aided by the inclusion of patient with HPS-PF in registry databases.http://www.sciencedirect.com/science/article/pii/S2213007124001461Hermansky-Pudlak SyndromePulmonary fibrosisGeneticsComputed tomography |
| spellingShingle | Matthew Donnan Samantha Ellis Ian Glaspole Hermansky-Pudlak Syndrome: An unusual pattern of pulmonary fibrosis Respiratory Medicine Case Reports Hermansky-Pudlak Syndrome Pulmonary fibrosis Genetics Computed tomography |
| title | Hermansky-Pudlak Syndrome: An unusual pattern of pulmonary fibrosis |
| title_full | Hermansky-Pudlak Syndrome: An unusual pattern of pulmonary fibrosis |
| title_fullStr | Hermansky-Pudlak Syndrome: An unusual pattern of pulmonary fibrosis |
| title_full_unstemmed | Hermansky-Pudlak Syndrome: An unusual pattern of pulmonary fibrosis |
| title_short | Hermansky-Pudlak Syndrome: An unusual pattern of pulmonary fibrosis |
| title_sort | hermansky pudlak syndrome an unusual pattern of pulmonary fibrosis |
| topic | Hermansky-Pudlak Syndrome Pulmonary fibrosis Genetics Computed tomography |
| url | http://www.sciencedirect.com/science/article/pii/S2213007124001461 |
| work_keys_str_mv | AT matthewdonnan hermanskypudlaksyndromeanunusualpatternofpulmonaryfibrosis AT samanthaellis hermanskypudlaksyndromeanunusualpatternofpulmonaryfibrosis AT ianglaspole hermanskypudlaksyndromeanunusualpatternofpulmonaryfibrosis |