Case Report: Novel treatment approach for severe interstitial lung disease in type 3 Gaucher disease
Gaucher Disease Type 3 (GD3) is a rare lysosomal storage disorder characterized by both visceral and neurological involvement. Pulmonary manifestations can significantly impact prognosis and quality of life. This case report highlights the challenges in managing severe pulmonary involvement in GD an...
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Frontiers Media S.A.
2025-06-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1604433/full |
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| author | Vincenza Gragnaniello Vincenza Gragnaniello Silvia Carraro Tiziana Zangardi Chiara Cazzorla Daniela Gueraldi Alberto B. Burlina Alberto B. Burlina |
| author_facet | Vincenza Gragnaniello Vincenza Gragnaniello Silvia Carraro Tiziana Zangardi Chiara Cazzorla Daniela Gueraldi Alberto B. Burlina Alberto B. Burlina |
| author_sort | Vincenza Gragnaniello |
| collection | DOAJ |
| description | Gaucher Disease Type 3 (GD3) is a rare lysosomal storage disorder characterized by both visceral and neurological involvement. Pulmonary manifestations can significantly impact prognosis and quality of life. This case report highlights the challenges in managing severe pulmonary involvement in GD and explores novel treatment approaches. We present a case of a patient with GD3, diagnosed through neonatal screening, who developed severe lung disease despite early initiation of enzyme replacement therapy (ERT). The patient, carrying compound heterozygous variants in the GBA1 gene (p.Leu483Pro, [p.His294Gln + p.Asp448His]), experienced respiratory distress requiring oxygen therapy from the age of 4 months. High-resolution computed tomography revealed a typical interstitial lung disease pattern. Despite ERT and a marked reduction in storage biomarkers, pulmonary symptoms persisted, accompanied by elevated inflammatory markers. We implemented a treatment regimen of systemic corticosteroids followed by hydroxychloroquine, resulting in clinical improvement. Furthermore, we observed a decrease in inflammatory biomarkers, such as TNF-alpha and Pp38 MAPK levels, providing insights into possible pathogenic mechanisms. This case underscores the limitations of ERT in addressing pulmonary manifestations of GD and highlights the need for personalized treatment strategies. It also emphasizes the importance of further research into the pathogenesis of pulmonary damage in Gaucher disease to develop more effective therapies for these challenging cases. The positive response to anti-inflammatory and immunomodulatory therapies suggests a potential role for these approaches in managing GD-related lung disease. |
| format | Article |
| id | doaj-art-7d46b48a507249a695f53df932c4e389 |
| institution | DOAJ |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-7d46b48a507249a695f53df932c4e3892025-08-20T03:10:02ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-06-011310.3389/fped.2025.16044331604433Case Report: Novel treatment approach for severe interstitial lung disease in type 3 Gaucher diseaseVincenza Gragnaniello0Vincenza Gragnaniello1Silvia Carraro2Tiziana Zangardi3Chiara Cazzorla4Daniela Gueraldi5Alberto B. Burlina6Alberto B. Burlina7Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, University of Padova, Padova, ItalyDivision of Inherited Metabolic Diseases, Department of Women's and Children's Health, University Hospital of Padova, Padova, ItalyUnit of Pediatric Allergy and Respiratory Medicine, Women’s and Children’s Health Department, University of Padova, Padova, ItalyPediatric Emergency Department, Department for Women’s and Children’s Health, University of Padua, Padua, ItalyDivision of Inherited Metabolic Diseases, Department of Women's and Children's Health, University Hospital of Padova, Padova, ItalyDivision of Inherited Metabolic Diseases, Department of Women's and Children's Health, University Hospital of Padova, Padova, ItalyDivision of Inherited Metabolic Diseases, Department of Women's and Children's Health, University of Padova, Padova, ItalyDivision of Inherited Metabolic Diseases, Department of Women's and Children's Health, University Hospital of Padova, Padova, ItalyGaucher Disease Type 3 (GD3) is a rare lysosomal storage disorder characterized by both visceral and neurological involvement. Pulmonary manifestations can significantly impact prognosis and quality of life. This case report highlights the challenges in managing severe pulmonary involvement in GD and explores novel treatment approaches. We present a case of a patient with GD3, diagnosed through neonatal screening, who developed severe lung disease despite early initiation of enzyme replacement therapy (ERT). The patient, carrying compound heterozygous variants in the GBA1 gene (p.Leu483Pro, [p.His294Gln + p.Asp448His]), experienced respiratory distress requiring oxygen therapy from the age of 4 months. High-resolution computed tomography revealed a typical interstitial lung disease pattern. Despite ERT and a marked reduction in storage biomarkers, pulmonary symptoms persisted, accompanied by elevated inflammatory markers. We implemented a treatment regimen of systemic corticosteroids followed by hydroxychloroquine, resulting in clinical improvement. Furthermore, we observed a decrease in inflammatory biomarkers, such as TNF-alpha and Pp38 MAPK levels, providing insights into possible pathogenic mechanisms. This case underscores the limitations of ERT in addressing pulmonary manifestations of GD and highlights the need for personalized treatment strategies. It also emphasizes the importance of further research into the pathogenesis of pulmonary damage in Gaucher disease to develop more effective therapies for these challenging cases. The positive response to anti-inflammatory and immunomodulatory therapies suggests a potential role for these approaches in managing GD-related lung disease.https://www.frontiersin.org/articles/10.3389/fped.2025.1604433/fullGaucher diseaseglucocerebrosidasenewborn screeninginterstitial lung diseasecorticosteroid therapyhydroxychloroquine |
| spellingShingle | Vincenza Gragnaniello Vincenza Gragnaniello Silvia Carraro Tiziana Zangardi Chiara Cazzorla Daniela Gueraldi Alberto B. Burlina Alberto B. Burlina Case Report: Novel treatment approach for severe interstitial lung disease in type 3 Gaucher disease Frontiers in Pediatrics Gaucher disease glucocerebrosidase newborn screening interstitial lung disease corticosteroid therapy hydroxychloroquine |
| title | Case Report: Novel treatment approach for severe interstitial lung disease in type 3 Gaucher disease |
| title_full | Case Report: Novel treatment approach for severe interstitial lung disease in type 3 Gaucher disease |
| title_fullStr | Case Report: Novel treatment approach for severe interstitial lung disease in type 3 Gaucher disease |
| title_full_unstemmed | Case Report: Novel treatment approach for severe interstitial lung disease in type 3 Gaucher disease |
| title_short | Case Report: Novel treatment approach for severe interstitial lung disease in type 3 Gaucher disease |
| title_sort | case report novel treatment approach for severe interstitial lung disease in type 3 gaucher disease |
| topic | Gaucher disease glucocerebrosidase newborn screening interstitial lung disease corticosteroid therapy hydroxychloroquine |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1604433/full |
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