Proceedings of the fourth international conference on central hypoventilation View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-12-05

AUTHORS

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, the European Central Hypoventilation Syndrome Consortium

ABSTRACT

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. More... »

PAGES

194

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  • Journal

    TITLE

    Orphanet Journal of Rare Diseases

    ISSUE

    1

    VOLUME

    9

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/s13023-014-0194-5

    DOI

    http://dx.doi.org/10.1186/s13023-014-0194-5

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1021833105

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/25928806


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