Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease
Objective: To provide strategies for monitoring and treating severe lung involvement in Gaucher disease. Study design: We reviewed the chart of a 5-year-old boy who developed rapidly progressive, severe infiltrative lung involvement of Gaucher disease (GD) and improved after allogeneic hematopoietic...
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| Format: | Article |
| Language: | English |
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Elsevier
2020-12-01
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| Series: | Molecular Genetics and Metabolism Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426920300987 |
| _version_ | 1818952715240210432 |
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| author | Fu-Shiuan Lee Hsiu-Ju Yen Dau-Ming Niu Giun-Yi Hung Chih-Ying Lee Yi-Chen Yeh Paul Chih-Hsueh Chen Sheng-Kai Chang Chia-Feng Yang |
| author_facet | Fu-Shiuan Lee Hsiu-Ju Yen Dau-Ming Niu Giun-Yi Hung Chih-Ying Lee Yi-Chen Yeh Paul Chih-Hsueh Chen Sheng-Kai Chang Chia-Feng Yang |
| author_sort | Fu-Shiuan Lee |
| collection | DOAJ |
| description | Objective: To provide strategies for monitoring and treating severe lung involvement in Gaucher disease. Study design: We reviewed the chart of a 5-year-old boy who developed rapidly progressive, severe infiltrative lung involvement of Gaucher disease (GD) and improved after allogeneic hematopoietic stem cell transplant (HSCT), along with other case studies reported before December 2019. He was diagnosed with GD (homozygous mutation at c.1448 T > C, p.L483P), and started receiving enzyme replacement therapy (ERT) at 17 months old. He developed respiratory distress symptoms after 45 months of ERT; chest imaging reported diffuse interstitial infiltration of the bilateral lungs and consolidations at the right lungs. Allogeneic HSCT using cells from a matched unrelated donor was performed four months upon progressive respiratory symptoms. Results: His respiratory symptoms subsided in one month; chest imaging improvement, pulmonary function test improvement, and normalized activity of β-glucocerebrosidase were reported in three months. Conclusion: This is the first report of a patient who received early and regular ERT but developed severe infiltrative lung involvement and recovered after allogeneic HSCT. Based on study results, we suggest regular chest imaging, even for asymptomatic patients. For patients with severe lung involvement, rapid deterioration, and unresponsive to higher ERT dosages, allogeneic HSCT should be considered. |
| first_indexed | 2024-12-20T09:54:47Z |
| format | Article |
| id | doaj.art-7d0c48e7a2914dac87bf2baec12f3342 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-20T09:54:47Z |
| publishDate | 2020-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-7d0c48e7a2914dac87bf2baec12f33422022-12-21T19:44:29ZengElsevierMolecular Genetics and Metabolism Reports2214-42692020-12-0125100652Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher diseaseFu-Shiuan Lee0Hsiu-Ju Yen1Dau-Ming Niu2Giun-Yi Hung3Chih-Ying Lee4Yi-Chen Yeh5Paul Chih-Hsueh Chen6Sheng-Kai Chang7Chia-Feng Yang8Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang-Ming University, Taipei, TaiwanDepartment of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang-Ming University, Taipei, TaiwanDepartment of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang-Ming University, Taipei, TaiwanDepartment of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang-Ming University, Taipei, TaiwanDepartment of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang-Ming University, Taipei, TaiwanSchool of Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, TaiwanSchool of Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, TaiwanDepartment of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang-Ming University, Taipei, TaiwanDepartment of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang-Ming University, Taipei, Taiwan; Corresponding author at: Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.Objective: To provide strategies for monitoring and treating severe lung involvement in Gaucher disease. Study design: We reviewed the chart of a 5-year-old boy who developed rapidly progressive, severe infiltrative lung involvement of Gaucher disease (GD) and improved after allogeneic hematopoietic stem cell transplant (HSCT), along with other case studies reported before December 2019. He was diagnosed with GD (homozygous mutation at c.1448 T > C, p.L483P), and started receiving enzyme replacement therapy (ERT) at 17 months old. He developed respiratory distress symptoms after 45 months of ERT; chest imaging reported diffuse interstitial infiltration of the bilateral lungs and consolidations at the right lungs. Allogeneic HSCT using cells from a matched unrelated donor was performed four months upon progressive respiratory symptoms. Results: His respiratory symptoms subsided in one month; chest imaging improvement, pulmonary function test improvement, and normalized activity of β-glucocerebrosidase were reported in three months. Conclusion: This is the first report of a patient who received early and regular ERT but developed severe infiltrative lung involvement and recovered after allogeneic HSCT. Based on study results, we suggest regular chest imaging, even for asymptomatic patients. For patients with severe lung involvement, rapid deterioration, and unresponsive to higher ERT dosages, allogeneic HSCT should be considered.http://www.sciencedirect.com/science/article/pii/S2214426920300987Lysosomal storage diseaseInfiltrative lung diseaseGlucocerebrosidase |
| spellingShingle | Fu-Shiuan Lee Hsiu-Ju Yen Dau-Ming Niu Giun-Yi Hung Chih-Ying Lee Yi-Chen Yeh Paul Chih-Hsueh Chen Sheng-Kai Chang Chia-Feng Yang Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease Molecular Genetics and Metabolism Reports Lysosomal storage disease Infiltrative lung disease Glucocerebrosidase |
| title | Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease |
| title_full | Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease |
| title_fullStr | Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease |
| title_full_unstemmed | Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease |
| title_short | Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease |
| title_sort | allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in gaucher disease |
| topic | Lysosomal storage disease Infiltrative lung disease Glucocerebrosidase |
| url | http://www.sciencedirect.com/science/article/pii/S2214426920300987 |
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