{"title":"法布里病患者的血清蝶呤、生物蝶呤、色氨酸和犬尿氨酸水平。","authors":"Tuğçe Uçar, Mehmet Şerif Cansever, Esra Isat, Tanyel Zubarioğlu, Ayşe Çiğdem Aktuğlu Zeybek, Birol Topçu, Nurhan Seyahi, Ertuğrul Kıykım","doi":"10.4274/balkanmedj.galenos.2024.2023-10-98","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Fabry disease is characterized by the accumulation of globotriaosylceramide. Substrate accumulation in lysosomes is thought to trigger an inflammatory response and is responsible for progressive organ damage through the induction of autoimmunity. The levels of pteridine and kynurenine pathway metabolites increase when immune activation is observed and are employed to monitor several diseases and determine prognosis.</p><p><strong>Aims: </strong>To elucidate the effects of immune activation on the pathophysiology of Fabry disease and to investigate the potential utility of pteridine and kynurenine metabolites.</p><p><strong>Study design: </strong>A prospective case-control study.</p><p><strong>Methods: </strong>In this study, 33 patients with Fabry disease and 33 age-and sex-matched healthy controls were included. Blood pteridine and kynurenine metabolites were studied in both groups. Organ involvement in Fabry disease and its correlation with the pteridine and kynurenine pathways were also investigated.</p><p><strong>Results: </strong>The patients’ neopterin and biopterin levels and the tryptophan/kynurenine ratio were statistically higher than those of the healthy control group (<i>p</i> < 0.05). A statistically significant association was found between neopterin levels and hypertrophic cardiomyopathy, cardiac arrhythmias, and GFR values (<i>p</i> = 0.044, <i>p</i> = 0.021, and <i>p</i> = 0.030, respectively), tryptophan and corneal verticillate, hearing loss and tinnitus (<i>p</i> = 0.010, <i>p</i> = 0.009 and <i>p</i> = 0.046, respectively), and kynurenine levels and valvular heart disease (<i>p</i> = 0.020).</p><p><strong>Conclusion: </strong>From the onset of the disease, patients with Fabry disease exhibited elevated levels of inflammation and immune activation. Furthermore, inflammation and immune activation markers can be used as early disease biomarkers.</p>","PeriodicalId":8690,"journal":{"name":"Balkan Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.9000,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10913122/pdf/","citationCount":"0","resultStr":"{\"title\":\"Serum Neopterin, Biopterin, Tryptophan, and Kynurenine Levels in Patients with Fabry Disease\",\"authors\":\"Tuğçe Uçar, Mehmet Şerif Cansever, Esra Isat, Tanyel Zubarioğlu, Ayşe Çiğdem Aktuğlu Zeybek, Birol Topçu, Nurhan Seyahi, Ertuğrul Kıykım\",\"doi\":\"10.4274/balkanmedj.galenos.2024.2023-10-98\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Fabry disease is characterized by the accumulation of globotriaosylceramide. Substrate accumulation in lysosomes is thought to trigger an inflammatory response and is responsible for progressive organ damage through the induction of autoimmunity. The levels of pteridine and kynurenine pathway metabolites increase when immune activation is observed and are employed to monitor several diseases and determine prognosis.</p><p><strong>Aims: </strong>To elucidate the effects of immune activation on the pathophysiology of Fabry disease and to investigate the potential utility of pteridine and kynurenine metabolites.</p><p><strong>Study design: </strong>A prospective case-control study.</p><p><strong>Methods: </strong>In this study, 33 patients with Fabry disease and 33 age-and sex-matched healthy controls were included. Blood pteridine and kynurenine metabolites were studied in both groups. Organ involvement in Fabry disease and its correlation with the pteridine and kynurenine pathways were also investigated.</p><p><strong>Results: </strong>The patients’ neopterin and biopterin levels and the tryptophan/kynurenine ratio were statistically higher than those of the healthy control group (<i>p</i> < 0.05). A statistically significant association was found between neopterin levels and hypertrophic cardiomyopathy, cardiac arrhythmias, and GFR values (<i>p</i> = 0.044, <i>p</i> = 0.021, and <i>p</i> = 0.030, respectively), tryptophan and corneal verticillate, hearing loss and tinnitus (<i>p</i> = 0.010, <i>p</i> = 0.009 and <i>p</i> = 0.046, respectively), and kynurenine levels and valvular heart disease (<i>p</i> = 0.020).</p><p><strong>Conclusion: </strong>From the onset of the disease, patients with Fabry disease exhibited elevated levels of inflammation and immune activation. 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引用次数: 0
摘要
背景:法布里病的特征是球形糖基甘油酰胺的积累。溶酶体中的底物积累被认为会引发炎症反应,并通过诱导自身免疫而造成器官的逐渐损伤。当观察到免疫激活时,蝶啶和犬尿氨酸途径代谢物的水平会升高,这些代谢物可用于监测多种疾病并确定预后:研究设计:前瞻性病例对照研究:本研究纳入了 33 名法布里病患者和 33 名年龄与性别匹配的健康对照者。对两组患者的血液蝶啶和犬尿氨酸代谢物进行了研究。研究还调查了法布里病的器官受累情况及其与蝶啶和犬尿氨酸途径的相关性:结果:患者的新蝶呤和双蝶呤水平以及色氨酸/犬尿氨酸比值均高于健康对照组(P < 0.05)。蝶呤水平与肥厚型心肌病、心律失常和 GFR 值(分别为 p = 0.044、p = 0.021 和 p = 0.030),色氨酸与角膜眩晕、听力损失和耳鸣(分别为 p = 0.010、p = 0.009 和 p = 0.046),犬尿氨酸水平与瓣膜性心脏病(p = 0.020)之间存在统计学意义:结论:法布里病患者从发病开始就表现出炎症和免疫激活水平升高。此外,炎症和免疫激活标记物可作为早期疾病的生物标记物。
Serum Neopterin, Biopterin, Tryptophan, and Kynurenine Levels in Patients with Fabry Disease
Background: Fabry disease is characterized by the accumulation of globotriaosylceramide. Substrate accumulation in lysosomes is thought to trigger an inflammatory response and is responsible for progressive organ damage through the induction of autoimmunity. The levels of pteridine and kynurenine pathway metabolites increase when immune activation is observed and are employed to monitor several diseases and determine prognosis.
Aims: To elucidate the effects of immune activation on the pathophysiology of Fabry disease and to investigate the potential utility of pteridine and kynurenine metabolites.
Study design: A prospective case-control study.
Methods: In this study, 33 patients with Fabry disease and 33 age-and sex-matched healthy controls were included. Blood pteridine and kynurenine metabolites were studied in both groups. Organ involvement in Fabry disease and its correlation with the pteridine and kynurenine pathways were also investigated.
Results: The patients’ neopterin and biopterin levels and the tryptophan/kynurenine ratio were statistically higher than those of the healthy control group (p < 0.05). A statistically significant association was found between neopterin levels and hypertrophic cardiomyopathy, cardiac arrhythmias, and GFR values (p = 0.044, p = 0.021, and p = 0.030, respectively), tryptophan and corneal verticillate, hearing loss and tinnitus (p = 0.010, p = 0.009 and p = 0.046, respectively), and kynurenine levels and valvular heart disease (p = 0.020).
Conclusion: From the onset of the disease, patients with Fabry disease exhibited elevated levels of inflammation and immune activation. Furthermore, inflammation and immune activation markers can be used as early disease biomarkers.
期刊介绍:
The Balkan Medical Journal (Balkan Med J) is a peer-reviewed open-access international journal that publishes interesting clinical and experimental research conducted in all fields of medicine, interesting case reports and clinical images, invited reviews, editorials, letters, comments and letters to the Editor including reports on publication and research ethics. The journal is the official scientific publication of the Trakya University Faculty of Medicine, Edirne, Turkey and is printed six times a year, in January, March, May, July, September and November. The language of the journal is English.
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The Balkan Medical Journal encourages and enables academicians, researchers, specialists and primary care physicians of Balkan countries to publish their valuable research in all branches of medicine. The primary aim of the journal is to publish original articles with high scientific and ethical quality and serve as a good example of medical publications in the Balkans as well as in the World.