Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Viale Mario Bracci 36, 53100, Siena, Italy.
Anticancer Res. 2013 Feb;33(2):691-5.
Costello syndrome is a rare genetic condition characterized by coarse facies, short stature, loose folds of skin especially on hands and feet, severe feeding difficulties and failure to thrive. Other features include cardiac anomalies, developmental disability and increased risk of neoplasms. Given the link between oxidative stress (OS) and carcinogenesis, we tested the hypothesis that OS occurs in this syndrome, supposing its role both in cancer development and in other clinical features.
We describe four cases with Costello syndrome in which we verified the presence of OS by measuring a redox biomarker profile including total hydroperoxides, non-protein-bound iron, advanced oxidation protein products, thyols, carbonyl groups and isoprostanes. Thus, we introduced an antioxidant agent, namely potassium ascorbate with ribose (PAR) into the therapy and monitored the redox profile every three months to verify its efficacy.
A progressive decrease in OS biomarkers occurred, together with an improvement in the clinical features of the patients.
OS was proven in all four cases of Costello syndrome. The antioxidant therapy with PAR demonstrated positive effects. These promising results need further research to confirm the relevance of OS and the efficacy of PAR therapy in Costello syndrome.
Costello 综合征是一种罕见的遗传性疾病，其特征为面容粗糙、身材矮小、手脚皮肤褶皱松弛、严重的喂养困难和生长发育迟缓。其他特征包括心脏异常、发育障碍和肿瘤风险增加。鉴于氧化应激（OS）与致癌作用之间存在联系，我们假设 OS 发生在这种综合征中，推测其在癌症发展和其他临床特征中的作用。
我们描述了 4 例 Costello 综合征患者，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、非蛋白结合铁、高级氧化蛋白产物、硫醇、羰基和异前列腺素。因此，我们将抗氧化剂，即抗坏血酸钾和核糖（PAR）引入治疗中，并每三个月监测一次氧化还原谱，以验证其疗效。
OS 生物标志物呈进行性下降，患者的临床特征也有所改善。
在所有 4 例 Costello 综合征患者中均证实存在 OS。PAR 的抗氧化治疗显示出积极的效果。这些有希望的结果需要进一步的研究来证实 OS 的相关性和 PAR 治疗在 Costello 综合征中的疗效。
