Gaucher’s Disease – current state of knowledge and future perspectives?
Introduction and purpose: Gaucher's Disease (GD), a rare genetic disorder, is a difficult challenge in genetic and metabolic disorders. The aim of this review is to provide an exploration of GD, spanning its pathophysiology to the latest advancements in diagnostic and therapeutic innovations....
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Kazimierz Wielki University
2024-03-01
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| Series: | Journal of Education, Health and Sport |
| Subjects: | |
| Online Access: | https://apcz.umk.pl/JEHS/article/view/49507 |
| _version_ | 1797236856789663744 |
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| author | Katarzyna Szymańska Julia Krasnoborska Sylwia Samojedny Maciej Superson Katarzyna Szmyt Kamil Walczak Klaudia Wilk-Trytko Łukasz Zarębski |
| author_facet | Katarzyna Szymańska Julia Krasnoborska Sylwia Samojedny Maciej Superson Katarzyna Szmyt Kamil Walczak Klaudia Wilk-Trytko Łukasz Zarębski |
| author_sort | Katarzyna Szymańska |
| collection | DOAJ |
| description |
Introduction and purpose: Gaucher's Disease (GD), a rare genetic disorder, is a difficult challenge in genetic and metabolic disorders. The aim of this review is to provide an exploration of GD, spanning its pathophysiology to the latest advancements in diagnostic and therapeutic innovations. In this review we aimed to underscore the challenges it presents and the ongoing efforts to overcome them.
State of knowledge: GD, characterized by the accumulation of glucocerebroside, involves molecular, cellular, and systemic dysfunctions. At the molecular level, mutations in the GBA gene give rise to diverse manifestations, influencing disease severity. Cellular disruptions lead to lysosomal dysfunction, altered calcium homeostasis, and chronic inflammation, impacting various organ systems. Diagnostic approaches involve biomarkers, genetic testing, and imaging studies, each playing a crucial role in confirming the disease type and assessing its grade.
Summary: Management and treatment strategies for GD have evolved, with enzyme replacement therapy and substrate reduction therapy serving as the basics. However, challenges persist, including limited efficacy in treating neurological symptoms and the high cost of treatments. The review highlights ongoing research and future perspectives in GD therapy.
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| first_indexed | 2024-04-24T17:10:30Z |
| format | Article |
| id | doaj.art-5eb46aaa971141faba222801afce2d42 |
| institution | Directory Open Access Journal |
| issn | 2391-8306 |
| language | English |
| last_indexed | 2024-04-24T17:10:30Z |
| publishDate | 2024-03-01 |
| publisher | Kazimierz Wielki University |
| record_format | Article |
| series | Journal of Education, Health and Sport |
| spelling | doaj.art-5eb46aaa971141faba222801afce2d422024-03-28T11:53:55ZengKazimierz Wielki UniversityJournal of Education, Health and Sport2391-83062024-03-016410.12775/JEHS.2024.64.009Gaucher’s Disease – current state of knowledge and future perspectives? Katarzyna Szymańska0Julia Krasnoborska1Sylwia Samojedny2Maciej Superson3Katarzyna Szmyt4Kamil Walczak5Klaudia Wilk-Trytko6Łukasz Zarębski7University Clinical Hospital Fryderyk Chopin, Szopena 2, 35-055 Rzeszów, PolandMedicadent Clinic, Piątkowska 110A, 60-649 Poznań, PolandUniversity Clinical Hospital Fryderyk Chopin, Szopena 2, 35-055 Rzeszów, PolandUniversity Clinical Hospital Fryderyk Chopin, Szopena 2, 35-055 Rzeszów, PolandUniversity Clinical Hospital Fryderyk Chopin, Szopena 2, 35-055 Rzeszów, PolandUniversity Clinical Hospital Fryderyk Chopin, Szopena 2, 35-055 Rzeszów, PolandUniversity Clinical Hospital Fryderyk Chopin, Szopena 2, 35-055 Rzeszów, PolandUniversity Clinical Hospital Fryderyk Chopin, Szopena 2, 35-055 Rzeszów, Poland Introduction and purpose: Gaucher's Disease (GD), a rare genetic disorder, is a difficult challenge in genetic and metabolic disorders. The aim of this review is to provide an exploration of GD, spanning its pathophysiology to the latest advancements in diagnostic and therapeutic innovations. In this review we aimed to underscore the challenges it presents and the ongoing efforts to overcome them. State of knowledge: GD, characterized by the accumulation of glucocerebroside, involves molecular, cellular, and systemic dysfunctions. At the molecular level, mutations in the GBA gene give rise to diverse manifestations, influencing disease severity. Cellular disruptions lead to lysosomal dysfunction, altered calcium homeostasis, and chronic inflammation, impacting various organ systems. Diagnostic approaches involve biomarkers, genetic testing, and imaging studies, each playing a crucial role in confirming the disease type and assessing its grade. Summary: Management and treatment strategies for GD have evolved, with enzyme replacement therapy and substrate reduction therapy serving as the basics. However, challenges persist, including limited efficacy in treating neurological symptoms and the high cost of treatments. The review highlights ongoing research and future perspectives in GD therapy. https://apcz.umk.pl/JEHS/article/view/49507Gaucher's Diseaselysosomal storage disorderglucocerebrosidaseenzyme replacement therapysubstrate reduction therapy |
| spellingShingle | Katarzyna Szymańska Julia Krasnoborska Sylwia Samojedny Maciej Superson Katarzyna Szmyt Kamil Walczak Klaudia Wilk-Trytko Łukasz Zarębski Gaucher’s Disease – current state of knowledge and future perspectives? Journal of Education, Health and Sport Gaucher's Disease lysosomal storage disorder glucocerebrosidase enzyme replacement therapy substrate reduction therapy |
| title | Gaucher’s Disease – current state of knowledge and future perspectives? |
| title_full | Gaucher’s Disease – current state of knowledge and future perspectives? |
| title_fullStr | Gaucher’s Disease – current state of knowledge and future perspectives? |
| title_full_unstemmed | Gaucher’s Disease – current state of knowledge and future perspectives? |
| title_short | Gaucher’s Disease – current state of knowledge and future perspectives? |
| title_sort | gaucher s disease current state of knowledge and future perspectives |
| topic | Gaucher's Disease lysosomal storage disorder glucocerebrosidase enzyme replacement therapy substrate reduction therapy |
| url | https://apcz.umk.pl/JEHS/article/view/49507 |
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