Proceedings of the fourth international conference on central hypoventilation

被引：0
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作者：
Ha Trang
Jean-François Brunet
Hermann Rohrer
Jorge Gallego
Jeanne Amiel
Tiziana Bachetti
Kenneth H Fischbeck
Thomas Similowski
Christian Straus
Isabella Ceccherini
Debra E Weese-Mayer
Matthias Frerick
Katarzyna Bieganowska
Linda Middleton
Francesco Morandi
Giancarlo Ottonello
机构：
[1] Robert Debré University Hospital,French Centre of Reference for Central Hypoventilation
[2] EA 7334 REMES Paris-Diderot University,Research Group Developmental Neurobiology, Department of Neurochemistry
[3] IBENS,French Centre of Reference for Central Hypoventilation
[4] CNRS 8197,Neurogenetics Branch, National Institute of Neurological Disorders and Stroke
[5] INSERM 1024,French Centre of Reference for Central Hypoventilation
[6] École normale supérieure,Laboratorio di Genetica Molecolare
[7] Max Planck Institute for Brain Research,undefined
[8] Inserm U676,undefined
[9] Robert Debré University Hospital,undefined
[10] Necker-Enfants Malades University Hospital,undefined
[11] Istituto Giannina Gaslini,undefined
[12] National Institutes of Health,undefined
[13] La Pitié Salpêtrière University Hospital,undefined
[14] Pierre et Maris Curie University,undefined
[15] Istituto Giannina Gaslini,undefined
[16] Autonomic Medicine in Paediatrics (CAMP),undefined
[17] Ann & Robert H. Lurie Children’s Hospital of Chicago,undefined
[18] Northwestern University Feinberg School of Medicine,undefined
[19] Klinikum Dritter Orden,undefined
[20] Children’s Memorial Health Institute in Warsaw,undefined
[21] Parent and UK CCHS Support Network,undefined
[22] Ospedale Sacra Famiglia,undefined
[23] Via Gerolamo Gaslini,undefined
来源：
Orphanet Journal of Rare Diseases | / 9卷
关键词：
Central hypoventilation; Autonomic nervous system; Congenital central hypoventilation syndrome; PHOX2B gene; Hirschsprung’s disease; Alanine expansion; Central control of breathing; Home mechanical ventilation; Phrenic nerve stimulation; Diaphragmatic stimulation;
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摘要：
Central hypoventilation syndromes (CHS) are rare diseases of central autonomic respiratory control associated with autonomous nervous dysfunction. Severe central hypoventilation is the hallmark and the most life-threatening feature. CHS is a group of not-fully defined disorders. Congenital CHS (CCHS) (ORPHA661) is clinically and genetically well-characterized, with the disease-causing gene identified in 2003. CCHS presents at birth in most cases, and associated with Hirschsprung’s disease (ORPHA99803) and neural crest tumours in 20% and 5% of cases, respectively. The incidence of CCHS is estimated to be 1 of 200,000 live births in France, yet remains unknown for the rest of the world. In contrast, late-onset CHS includes a group of not yet fully delineated diseases. Overlap with CCHS is likely, as a subset of patients harbours PHOX2B mutations. Another subset of patients present with associated hypothalamic dysfunction. The number of these patients is unknown (less than 60 cases reported worldwide). Treatment of CHS is palliative using advanced techniques of ventilation support during lifetime. Research is ongoing to better understand physiopathological mechanisms and identify potential treatment pathways.
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