Exploration of Bone Alterations in Gaucher Disease Type 1: A Global and Systematic Analysis of Scientific Knowledge
Abstract Gaucher disease type 1 (GD1) is the most common lysosomal storage disorder, characterized by hepatomegaly, splenomegaly, anemia, thrombocytopenia, and skeletal manifestations, which significantly affect quality of life. This systematic review aimed to assess the current state of the disease...
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2025-05-01
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| Series: | Journal of Inborn Errors of Metabolism and Screening |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942025000100401&lng=en&tlng=en |
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| author | Daniela Arturo-Terranova Lina Johanna Moreno Giraldo José María Satizabal Soto |
| author_facet | Daniela Arturo-Terranova Lina Johanna Moreno Giraldo José María Satizabal Soto |
| author_sort | Daniela Arturo-Terranova |
| collection | DOAJ |
| description | Abstract Gaucher disease type 1 (GD1) is the most common lysosomal storage disorder, characterized by hepatomegaly, splenomegaly, anemia, thrombocytopenia, and skeletal manifestations, which significantly affect quality of life. This systematic review aimed to assess the current state of the disease, focusing on skeletal manifestations. A systematic search was conducted between 2000 and February 2024 in multiple languages using PRISMA-ScR and JBI methods. A total of 96 studies were identified: 23 systematic reviews, 23 descriptive studies, 17 case reports, 13 experimental studies, 10 retrospective studies, 4 observational studies, 4 prospective studies, and 2 cross-sectional studies. The highest number of articles on the topic was published in 2015, and the countries with the most publications were the USA, Italy, Brazil, and Argentina over the 23 years covered in the search. These studies cover various aspects of GD1, including skeletal features, patient phenotypes, clinical annotations, diagnostics, therapies, and patient perspectives. Despite advances, challenges such as disease heterogeneity and inconsistent results persist. This review underscores the importance of further research to improve understanding and management of GD1, with an emphasis on skeletal manifestations. |
| format | Article |
| id | doaj-art-c68c64a906bd4d5782dedcfe6efb567a |
| institution | Kabale University |
| issn | 2326-4594 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | SciELO |
| record_format | Article |
| series | Journal of Inborn Errors of Metabolism and Screening |
| spelling | doaj-art-c68c64a906bd4d5782dedcfe6efb567a2025-08-20T03:52:11ZengSciELOJournal of Inborn Errors of Metabolism and Screening2326-45942025-05-011310.1590/2326-4594-jiems-2024-0002Exploration of Bone Alterations in Gaucher Disease Type 1: A Global and Systematic Analysis of Scientific KnowledgeDaniela Arturo-Terranovahttps://orcid.org/0000-0002-5914-0601Lina Johanna Moreno Giraldohttps://orcid.org/0000-0002-2182-3757José María Satizabal Sotohttps://orcid.org/0000-0002-0317-6664Abstract Gaucher disease type 1 (GD1) is the most common lysosomal storage disorder, characterized by hepatomegaly, splenomegaly, anemia, thrombocytopenia, and skeletal manifestations, which significantly affect quality of life. This systematic review aimed to assess the current state of the disease, focusing on skeletal manifestations. A systematic search was conducted between 2000 and February 2024 in multiple languages using PRISMA-ScR and JBI methods. A total of 96 studies were identified: 23 systematic reviews, 23 descriptive studies, 17 case reports, 13 experimental studies, 10 retrospective studies, 4 observational studies, 4 prospective studies, and 2 cross-sectional studies. The highest number of articles on the topic was published in 2015, and the countries with the most publications were the USA, Italy, Brazil, and Argentina over the 23 years covered in the search. These studies cover various aspects of GD1, including skeletal features, patient phenotypes, clinical annotations, diagnostics, therapies, and patient perspectives. Despite advances, challenges such as disease heterogeneity and inconsistent results persist. This review underscores the importance of further research to improve understanding and management of GD1, with an emphasis on skeletal manifestations.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942025000100401&lng=en&tlng=enGaucher DiseaseLysosomal Storage DisordersSkeletal ManifestationsSystematic ReviewQuality of Life |
| spellingShingle | Daniela Arturo-Terranova Lina Johanna Moreno Giraldo José María Satizabal Soto Exploration of Bone Alterations in Gaucher Disease Type 1: A Global and Systematic Analysis of Scientific Knowledge Journal of Inborn Errors of Metabolism and Screening Gaucher Disease Lysosomal Storage Disorders Skeletal Manifestations Systematic Review Quality of Life |
| title | Exploration of Bone Alterations in Gaucher Disease Type 1: A Global and Systematic Analysis of Scientific Knowledge |
| title_full | Exploration of Bone Alterations in Gaucher Disease Type 1: A Global and Systematic Analysis of Scientific Knowledge |
| title_fullStr | Exploration of Bone Alterations in Gaucher Disease Type 1: A Global and Systematic Analysis of Scientific Knowledge |
| title_full_unstemmed | Exploration of Bone Alterations in Gaucher Disease Type 1: A Global and Systematic Analysis of Scientific Knowledge |
| title_short | Exploration of Bone Alterations in Gaucher Disease Type 1: A Global and Systematic Analysis of Scientific Knowledge |
| title_sort | exploration of bone alterations in gaucher disease type 1 a global and systematic analysis of scientific knowledge |
| topic | Gaucher Disease Lysosomal Storage Disorders Skeletal Manifestations Systematic Review Quality of Life |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942025000100401&lng=en&tlng=en |
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