TY - JOUR T1 - Systemic oxidative stress in congenital central hypoventilation syndrome JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.01497-2018 VL - 52 IS - 5 SP - 1801497 AU - Donatella Degl'Innocenti AU - Matteo Becatti AU - Marta Peruzzi AU - Claudia Fiorillo AU - Matteo Ramazzotti AU - Niccolò Nassi AU - Cinzia Arzilli AU - Raffaele Piumelli Y1 - 2018/11/01 UR - http://erj.ersjournals.com/content/52/5/1801497.abstract N2 - Congenital central hypoventilation syndrome (CCHS), also known as Ondine's curse, is a rare disorder characterised by severe hypoventilation during sleep and autonomic dysregulation [1, 2]. The incidence of CCHS is about one in 200 000 live births. In >90% of cases, polyalanine repeat expansion mutations are present in the paired-like homeobox PHOX2B gene, although a frameshift variant may also be found [3]. The PHOX2B gene encodes a highly conserved homeobox domain transcription factor that plays a regulatory role in the differentiation of the motor neuron and the serotonergic neuronal fate in the development of the central nervous system [4]. The hallmark of CCHS is the “forgotten breathing”, which implies the need for life-long mechanical ventilation during sleep. However, in more severe cases characterised by global hypoventilation, mechanical ventilation must also be extended during wakefulness. Ventilatory support may be provided by tracheostomy and assisted ventilation, noninvasive ventilation or diaphragm pacemakers. Severe respiratory depression typically arises at birth but in milder cases, CCHS may be diagnosed later on in childhood or adulthood (later-onset CCHS) [1, 2].This study is the first to demonstrate an increase in ROS in CCHS patients. This implies that therapeutic strategies based on antioxidants should be taken in consideration and the mechanisms provoking the increase of ROS should be clarified. http://ow.ly/5Rhp30lJ7YiThe authors are grateful to the Associazione Italiana per la Sindrome da Ipoventilazione Centrale Congenita (A.I.S.I.C.C.) and to all the CCHS patients and their families for having allowed the enrolment of their children in this work. ER -