Extract
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].
Abstract
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/5Rhp30lJ7Yi
Acknowledgements
The 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.
Footnotes
Conflict of interest: D. Degl'Innocenti has nothing to disclose.
Conflict of interest: M. Becatti has nothing to disclose.
Conflict of interest: M. Peruzzi has nothing to disclose.
Conflict of interest: C. Fiorillo has nothing to disclose.
Conflict of interest: M. Ramazzotti has nothing to disclose.
Conflict of interest: N. Nassi has nothing to disclose.
Conflict of interest: C. Arzilli has nothing to disclose.
Conflict of interest: R. Piumelli has nothing to disclose.
Support statement: This work was supported by a grant from the University of Florence (Fondi di Ateneo 2017 to D. Degl'Innocenti).
- Received June 12, 2018.
- Accepted August 29, 2018.
- Copyright ©ERS 2018