Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Siena, Italy.
Dis Markers. 2012;33(4):179-83. doi: 10.3233/DMA-2012-0922.
Oxidative stress (OS) is involved in several human diseases, including obesity, diabetes, atherosclerosis, carcinogenesis, as well as genetic diseases. We previously found that OS occurs in Down Syndrome as well as in Beckwith-Wiedemann Syndrome (BWS). Here we describe the clinical case of a female patient with Prader Willi Syndrome (PWS), a genomic imprinting disorder, characterized by obesity, atherosclerosis and diabetes mellitus type 2, pathologies in which a continuous and important production of free radicals takes place. We verified the presence of OS by measuring a redox biomarkers profile including total hydroperoxides (TH), non protein-bound iron (NPBI), thiols (SH), advanced oxidation protein products (AOPP) and isoprostanes (IPs). Thus we introduced in therapy an antioxidant agent, namely potassium ascorbate with ribose (PAR), in addition to GH therapy and we monitored the redox biomarkers profile for four years. A progressive decrease in OS biomarkers occurred until their normalization. In the meantime a weight loss was observed together with a steady growth in standards for age and sex.
氧化应激（OS）涉及多种人类疾病，包括肥胖症、糖尿病、动脉粥样硬化、癌症发生以及遗传疾病。我们之前发现 OS 不仅存在于唐氏综合征中，也存在于贝克威思-威德曼综合征（BWS）中。在此，我们描述了一位女性普拉德-威利综合征（PWS）患者的临床病例，这是一种基因组印迹障碍，其特征为肥胖、动脉粥样硬化和 2 型糖尿病，这些病理状态中持续产生大量自由基。我们通过测量氧化应激生物标志物谱来验证 OS 的存在，包括总过氧化物（TH）、非蛋白结合铁（NPBI）、巯基（SH）、氧化蛋白产物（AOPP）和异前列腺素（IPs）。因此，我们在 GH 治疗的基础上引入了抗氧化剂，即抗坏血酸钾和核糖（PAR），并对氧化应激生物标志物谱进行了四年监测。OS 生物标志物呈逐渐下降趋势，直至恢复正常。在此期间，体重减轻的同时，与年龄和性别相关的标准稳步增长。
