Proceedings of the fourth international conference on central hypoventilation

Orphanet Journal of Rare Diseases

Giancarlo Ottonello^1,10  Francesco Morandi⁵  Linda Middleton^1,11  Katarzyna Bieganowska⁸  Matthias Frerick^1,14  Debra E Weese-Mayer^1,15  Isabella Ceccherini³  Christian Straus⁶  Thomas Similowski⁶  Kenneth H Fischbeck⁴  Tiziana Bachetti²  Jeanne Amiel¹  Jorge Gallego⁹  Hermann Rohrer^1,12  Jean-François Brunet⁷  Ha Trang^1,13 

[1] French Centre of Reference for Central Hypoventilation, Necker-Enfants Malades University Hospital, Paris, France;Istituto Giannina Gaslini, Genova, Italy;Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy;Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Missouri, USA;Ospedale Sacra Famiglia, Erba, Italy;French Centre of Reference for Central Hypoventilation, La Pitié Salpêtrière University Hospital, Pierre et Maris Curie University, Paris, France;IBENS, CNRS 8197, INSERM 1024, École normale supérieure, Paris, France;Children’s Memorial Health Institute in Warsaw, Warsaw, Poland;Inserm U676, Robert Debré University Hospital, Paris, France;Via Gerolamo Gaslini, Genova, Italy;Parent and UK CCHS Support Network, Oxford, UK;Research Group Developmental Neurobiology, Department of Neurochemistry, Max Planck Institute for Brain Research, Frankfurt am Main, Germany;French Centre of Reference for Central Hypoventilation, Robert Debré University Hospital, EA 7334 REMES Paris-Diderot University, 48 boulevard Serurier, Paris, 75019, France;Klinikum Dritter Orden, Munich, Germany;Autonomic Medicine in Paediatrics (CAMP), Ann & Robert H. Lurie Children’s Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA

关键词: Diaphragmatic stimulation;    Phrenic nerve stimulation;    Home mechanical ventilation;    Central control of breathing;    Alanine expansion;    Hirschsprung’s disease;    PHOX2B gene;    Congenital central hypoventilation syndrome;    Autonomic nervous system;    Central hypoventilation;   

Others  :  1149266
DOI  :  10.1186/s13023-014-0194-5

 received in 2014-09-22, accepted in 2014-11-14,  发布年份 2014

【 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.

The Fourth International Conference on Central Hypoventilation was organised in Warsaw, Poland, April 13–15, 2012, under the patronage of the European Agency for Health and Consumers and Public Health European Agency of European Community. The conference provided a state-of-the-art update of knowledge on all the genetic, molecular, cellular, and clinical aspects of these rare diseases.

【 授权许可】

   
2014 Trang et al.; licensee BioMed Central Ltd.

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