Urinary Biomarkers as a Proxy for Congenital Central Hypoventilation Syndrome Patient Follow-Up

Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system and in particular of the respiratory control during sleep. No drug therapy is, to date, available; therefore, the survival of these patients depends on lifelong ventilatory support during sleep. Reactive oxygen species (ROS)-induced oxidative stress is a recognized risk factor involved in the pathogenesis of several chronic diseases. Therefore, monitoring systemic oxidative stress could provide important insights into CCHS outcomes. Because ROS-induced oxidative products are excreted as stable metabolites in urine, we performed an HPLC-MS/MS analysis for the quantitative determination of the three main representative oxidative biomarkers (i.e., diY, MDA, and 8-OHdG) in the urine of CCHS patients. Higher levels of urinary MDA were found in CCHS patients compared with age-matched control subjects. The noteworthy finding is the identification of urinary MDA as relevant biomarker of systemic oxidative status in CCHS patients. This study is a concise and smart communication about the impact that oxidative stress has in CCHS, and suggests the monitoring of urinary MDA levels as a useful tool for the management of these patients.

Automated summary

This study performed quantitative analysis of oxidative biomarkers in the urine of congenital central hypoventilation syndrome (CCHS) patients and found that levels of urinary MDA were elevated in these patients, suggesting its relevance as a biomarker for systemic oxidative status in CCHS. The study highlights the importance of monitoring oxidative stress in CCHS patients and provides a useful tool for their management.