Case report: Fibrotic interstitial lung disease as the initial manifestation of hereditary pulmonary alveolar proteinosis caused by CSF2RB mutation
A 50-year-old male was admitted to the hospital with a 3-year history of dyspnea and cough. Chest high-resolution computed tomography (HRCT) did not show typical features of pulmonary alveolar proteinosis (PAP), but rather atypical features of interstitial lung disease with fibrosis. The diagnosis o...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2024-01-01
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| Series: | Frontiers in Pharmacology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fphar.2023.1252193/full |
| _version_ | 1797362565947326464 |
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| author | Qiuhong Li Huikang Xie Manhui Li Kebin Cheng |
| author_facet | Qiuhong Li Huikang Xie Manhui Li Kebin Cheng |
| author_sort | Qiuhong Li |
| collection | DOAJ |
| description | A 50-year-old male was admitted to the hospital with a 3-year history of dyspnea and cough. Chest high-resolution computed tomography (HRCT) did not show typical features of pulmonary alveolar proteinosis (PAP), but rather atypical features of interstitial lung disease with fibrosis. The diagnosis of PAP was confirmed through transbronchial lung cryobiopsy. Whole exome sequencing identified a rare homozygous frame shift mutation (c.304_305del:p.S102Ffs*5) in exon 3 of the CSF2RB gene in our patient. This case represents a rare occurrence of fibrotic interstitial lung disease in PAP. |
| first_indexed | 2024-03-08T16:09:44Z |
| format | Article |
| id | doaj.art-c8b2c54657e24658b63d14932db53ee7 |
| institution | Directory Open Access Journal |
| issn | 1663-9812 |
| language | English |
| last_indexed | 2024-03-08T16:09:44Z |
| publishDate | 2024-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pharmacology |
| spelling | doaj.art-c8b2c54657e24658b63d14932db53ee72024-01-08T04:12:27ZengFrontiers Media S.A.Frontiers in Pharmacology1663-98122024-01-011410.3389/fphar.2023.12521931252193Case report: Fibrotic interstitial lung disease as the initial manifestation of hereditary pulmonary alveolar proteinosis caused by CSF2RB mutationQiuhong Li0Huikang Xie1Manhui Li2Kebin Cheng3Department of Respiratory and Critical Care Medicine, Shanghai Pulmonary Hospital, School of Medicine, Tongji University, Shanghai, ChinaDepartment of Pathology, Shanghai Pulmonary Hospital, School of Medicine, Tongji University, Shanghai, ChinaDepartment of Respiratory and Critical Care Medicine, Shanghai Pulmonary Hospital, School of Medicine, Tongji University, Shanghai, ChinaDepartment of Respiratory and Critical Care Medicine, Shanghai Pulmonary Hospital, School of Medicine, Tongji University, Shanghai, ChinaA 50-year-old male was admitted to the hospital with a 3-year history of dyspnea and cough. Chest high-resolution computed tomography (HRCT) did not show typical features of pulmonary alveolar proteinosis (PAP), but rather atypical features of interstitial lung disease with fibrosis. The diagnosis of PAP was confirmed through transbronchial lung cryobiopsy. Whole exome sequencing identified a rare homozygous frame shift mutation (c.304_305del:p.S102Ffs*5) in exon 3 of the CSF2RB gene in our patient. This case represents a rare occurrence of fibrotic interstitial lung disease in PAP.https://www.frontiersin.org/articles/10.3389/fphar.2023.1252193/fullCSF2RBfibrotic interstitial lung diseasechest high-resolution computed tomographymutationpulmonary alveolar proteinosis |
| spellingShingle | Qiuhong Li Huikang Xie Manhui Li Kebin Cheng Case report: Fibrotic interstitial lung disease as the initial manifestation of hereditary pulmonary alveolar proteinosis caused by CSF2RB mutation Frontiers in Pharmacology CSF2RB fibrotic interstitial lung disease chest high-resolution computed tomography mutation pulmonary alveolar proteinosis |
| title | Case report: Fibrotic interstitial lung disease as the initial manifestation of hereditary pulmonary alveolar proteinosis caused by CSF2RB mutation |
| title_full | Case report: Fibrotic interstitial lung disease as the initial manifestation of hereditary pulmonary alveolar proteinosis caused by CSF2RB mutation |
| title_fullStr | Case report: Fibrotic interstitial lung disease as the initial manifestation of hereditary pulmonary alveolar proteinosis caused by CSF2RB mutation |
| title_full_unstemmed | Case report: Fibrotic interstitial lung disease as the initial manifestation of hereditary pulmonary alveolar proteinosis caused by CSF2RB mutation |
| title_short | Case report: Fibrotic interstitial lung disease as the initial manifestation of hereditary pulmonary alveolar proteinosis caused by CSF2RB mutation |
| title_sort | case report fibrotic interstitial lung disease as the initial manifestation of hereditary pulmonary alveolar proteinosis caused by csf2rb mutation |
| topic | CSF2RB fibrotic interstitial lung disease chest high-resolution computed tomography mutation pulmonary alveolar proteinosis |
| url | https://www.frontiersin.org/articles/10.3389/fphar.2023.1252193/full |
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