{"title":"通过测定戈谢病患者的总抗氧化能力和总氧化能力来研究氧化过程。","authors":"Aynur Küçükçongar Yavaş, Eylem Şerife Kalkan, Özlem Ünal Uzun, Mehmet Gunduz, Özcan Erel","doi":"10.1055/a-2515-2164","DOIUrl":null,"url":null,"abstract":"<p><p>Gaucher disease is caused by mutations in the GBA1 gene, which encodes the β-glucocerebrosidase enzyme. The deficiency of this enzyme result in glucosylceramide and glucosylsphingosine accumulation, within lysosomes and resulted triggering inflammation and accumulating substrates affect multiple organ systems, causing progressive cellular damage. Evidence has shown that the accumulation of glucosylceramide in macrophages is associated with inflammatory processes, reactive oxygen species production and an imbalance between the pro-oxidants and the antioxidant reserve, resulting in oxidative stress and inflammation. The aim of this study was to compare the oxidative stress status between patients with Gaucher disease and healthy controls.Case-control study This study included 10 patients with Gaucher disease aged between 2-40 years, and 30 healthy controls. Total antioxidant capacity and total oxidant capacity parameters between these groups were compared. Although the total antioxidant capacity value of the case group was higher, it was not significant. The total oxidant capacity and oxidative stress index values were significantly higher in the patient group (p<0.05). Our study showed that oxidative stress increased in patients with Gaucher disease. The results of our study may guide the application of antioxidant treatment in Gaucher disease patients as a supportive treatment.</p>","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":""},"PeriodicalIF":1.2000,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Investigation of the Oxidative Process by Measuring Total Antioxidant Capacity and Total Oxidant Capacity in Patients with Gaucher Disease.\",\"authors\":\"Aynur Küçükçongar Yavaş, Eylem Şerife Kalkan, Özlem Ünal Uzun, Mehmet Gunduz, Özcan Erel\",\"doi\":\"10.1055/a-2515-2164\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Gaucher disease is caused by mutations in the GBA1 gene, which encodes the β-glucocerebrosidase enzyme. The deficiency of this enzyme result in glucosylceramide and glucosylsphingosine accumulation, within lysosomes and resulted triggering inflammation and accumulating substrates affect multiple organ systems, causing progressive cellular damage. Evidence has shown that the accumulation of glucosylceramide in macrophages is associated with inflammatory processes, reactive oxygen species production and an imbalance between the pro-oxidants and the antioxidant reserve, resulting in oxidative stress and inflammation. The aim of this study was to compare the oxidative stress status between patients with Gaucher disease and healthy controls.Case-control study This study included 10 patients with Gaucher disease aged between 2-40 years, and 30 healthy controls. Total antioxidant capacity and total oxidant capacity parameters between these groups were compared. Although the total antioxidant capacity value of the case group was higher, it was not significant. The total oxidant capacity and oxidative stress index values were significantly higher in the patient group (p<0.05). Our study showed that oxidative stress increased in patients with Gaucher disease. The results of our study may guide the application of antioxidant treatment in Gaucher disease patients as a supportive treatment.</p>\",\"PeriodicalId\":17846,\"journal\":{\"name\":\"Klinische Padiatrie\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2025-05-05\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Klinische Padiatrie\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1055/a-2515-2164\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Klinische Padiatrie","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1055/a-2515-2164","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}
Investigation of the Oxidative Process by Measuring Total Antioxidant Capacity and Total Oxidant Capacity in Patients with Gaucher Disease.
Gaucher disease is caused by mutations in the GBA1 gene, which encodes the β-glucocerebrosidase enzyme. The deficiency of this enzyme result in glucosylceramide and glucosylsphingosine accumulation, within lysosomes and resulted triggering inflammation and accumulating substrates affect multiple organ systems, causing progressive cellular damage. Evidence has shown that the accumulation of glucosylceramide in macrophages is associated with inflammatory processes, reactive oxygen species production and an imbalance between the pro-oxidants and the antioxidant reserve, resulting in oxidative stress and inflammation. The aim of this study was to compare the oxidative stress status between patients with Gaucher disease and healthy controls.Case-control study This study included 10 patients with Gaucher disease aged between 2-40 years, and 30 healthy controls. Total antioxidant capacity and total oxidant capacity parameters between these groups were compared. Although the total antioxidant capacity value of the case group was higher, it was not significant. The total oxidant capacity and oxidative stress index values were significantly higher in the patient group (p<0.05). Our study showed that oxidative stress increased in patients with Gaucher disease. The results of our study may guide the application of antioxidant treatment in Gaucher disease patients as a supportive treatment.
期刊介绍:
Das Forum für wissenschaftliche Information in der Kinderheilkunde
ausgewählte Originalarbeiten aus allen Bereichen der Pädiatrie
Visite: Ihr Forum für interessante Krankengeschichten und außergewöhnliche Kasuistiken
aktuelle Fortschritte in Diagnostik und Therapie
jährliche Schwerpunkthefte: Ergebnisse der pädiatrischen Onkologie
plus Medizin und Markt
topaktuelle Informationen aus der Industrie