Gaucher's disease - a review of the most important information about the disease in Paediatrics
Gaucher disease is an autosomal recessive spirochete disease caused by a deficiency of the enzyme glucocerebrosidase. A mutation in the GBA1 gene induces the accumulation of abnormal products in macrophages resulting in the transformation into Gaucher cells in many organs. There are three main...
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Nicolaus Copernicus University in Toruń
2025-07-01
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| Series: | Quality in Sport |
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| Online Access: | https://apcz.umk.pl/QS/article/view/61358 |
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| author | Jakub Jarmołowicz Paulina Krzeszowska Aleksandra Kujawa Karolina Krochmal Adrianna Samoraj Jakub Zajączkowski Karolina Marrodán-Wojtczak Jan Wilk Kacper Stępniak Radosław Kuźma |
| author_facet | Jakub Jarmołowicz Paulina Krzeszowska Aleksandra Kujawa Karolina Krochmal Adrianna Samoraj Jakub Zajączkowski Karolina Marrodán-Wojtczak Jan Wilk Kacper Stępniak Radosław Kuźma |
| author_sort | Jakub Jarmołowicz |
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Gaucher disease is an autosomal recessive spirochete disease caused by a deficiency of the enzyme glucocerebrosidase. A mutation in the GBA1 gene induces the accumulation of abnormal products in macrophages resulting in the transformation into Gaucher cells in many organs. There are three main types of the disease, 1 being the most common type (non-neuropathic). The 2nd and 3rd types of the disease are neuropathic types and these occur mainly in childhood. Among paediatric patients, Gaucher's disease manifests mainly with enlargement of the liver, spleen, thrombocytopenia, anaemia, but skeletal, ocular and central nervous system symptoms may be present. Diagnosis based on enzymatic and genetic tests - analysis of the GBA1 gene mutation - is essential to prolong patients' lives, improve their quality of life and select an appropriate form of treatment. Currently, care for patients with this disease is based on ERT (enzyme replacement therapy), SRT (substrate replacement therapy). The disease is characterised by rather non-specific symptoms and course, and can be interpreted by physicians as a haematological-proliferative disease due to frequent changes in the structure of the liver, spleen and changes in blood morphological parameters. Increased awareness among doctors of the symptoms of this disease would allow earlier detection and implementation of treatment. This paper presents the current diagnostic and therapeutic methods and the characteristic symptoms any paediatrician may encounter. The challenges of diagnosing this disease are also highlighted.
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| format | Article |
| id | doaj-art-312554e50cab438292d84bba0398eaf4 |
| institution | Kabale University |
| issn | 2450-3118 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Nicolaus Copernicus University in Toruń |
| record_format | Article |
| series | Quality in Sport |
| spelling | doaj-art-312554e50cab438292d84bba0398eaf42025-08-20T03:30:39ZengNicolaus Copernicus University in ToruńQuality in Sport2450-31182025-07-014310.12775/QS.2025.43.61358Gaucher's disease - a review of the most important information about the disease in PaediatricsJakub Jarmołowicz0https://orcid.org/0000-0002-7574-1423Paulina Krzeszowska1https://orcid.org/0009-0001-5610-0006Aleksandra Kujawa2https://orcid.org/0009-0003-3538-8631Karolina Krochmal3https://orcid.org/0000-0002-1909-8429Adrianna Samoraj4https://orcid.org/0009-0006-8539-6551Jakub Zajączkowski5https://orcid.org/0009-0006-1722-4504Karolina Marrodán-Wojtczak6https://orcid.org/0009-0006-6941-166XJan Wilk7https://orcid.org/0009-0007-5805-2144Kacper Stępniak8https://orcid.org/0009-0007-0273-6029Radosław Kuźma9https://orcid.org/0009-0004-7914-7941Wrocław University Hospital Borowska 213, 50-556 WrocławLower Silesian Oncology CenterIndependent Public Healthcare Complex in PruszkówLower Silesian Oncology CenterIndependent Public Healthcare Complex in PruszkówWest Mazovia Health CentreCentral Clinical Hospital, Medical University of Warsaw, Stefana Banacha 1a, 02-097, WarsawMilitary Institute of Medicine - National Research InstituteWest Mazovia Health CentreCounty Hospital in Sochaczew Gaucher disease is an autosomal recessive spirochete disease caused by a deficiency of the enzyme glucocerebrosidase. A mutation in the GBA1 gene induces the accumulation of abnormal products in macrophages resulting in the transformation into Gaucher cells in many organs. There are three main types of the disease, 1 being the most common type (non-neuropathic). The 2nd and 3rd types of the disease are neuropathic types and these occur mainly in childhood. Among paediatric patients, Gaucher's disease manifests mainly with enlargement of the liver, spleen, thrombocytopenia, anaemia, but skeletal, ocular and central nervous system symptoms may be present. Diagnosis based on enzymatic and genetic tests - analysis of the GBA1 gene mutation - is essential to prolong patients' lives, improve their quality of life and select an appropriate form of treatment. Currently, care for patients with this disease is based on ERT (enzyme replacement therapy), SRT (substrate replacement therapy). The disease is characterised by rather non-specific symptoms and course, and can be interpreted by physicians as a haematological-proliferative disease due to frequent changes in the structure of the liver, spleen and changes in blood morphological parameters. Increased awareness among doctors of the symptoms of this disease would allow earlier detection and implementation of treatment. This paper presents the current diagnostic and therapeutic methods and the characteristic symptoms any paediatrician may encounter. The challenges of diagnosing this disease are also highlighted. https://apcz.umk.pl/QS/article/view/61358Gaucher diseaseGBA1Gaucher cellsERTSRT |
| spellingShingle | Jakub Jarmołowicz Paulina Krzeszowska Aleksandra Kujawa Karolina Krochmal Adrianna Samoraj Jakub Zajączkowski Karolina Marrodán-Wojtczak Jan Wilk Kacper Stępniak Radosław Kuźma Gaucher's disease - a review of the most important information about the disease in Paediatrics Quality in Sport Gaucher disease GBA1 Gaucher cells ERT SRT |
| title | Gaucher's disease - a review of the most important information about the disease in Paediatrics |
| title_full | Gaucher's disease - a review of the most important information about the disease in Paediatrics |
| title_fullStr | Gaucher's disease - a review of the most important information about the disease in Paediatrics |
| title_full_unstemmed | Gaucher's disease - a review of the most important information about the disease in Paediatrics |
| title_short | Gaucher's disease - a review of the most important information about the disease in Paediatrics |
| title_sort | gaucher s disease a review of the most important information about the disease in paediatrics |
| topic | Gaucher disease GBA1 Gaucher cells ERT SRT |
| url | https://apcz.umk.pl/QS/article/view/61358 |
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