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Orphanet Journal of Rare Diseases

, 9:194

Rare pulmonary diseases


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.

KeywordsCentral 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 AbbreviationsAlkAnaplastic lymphoma kinase

ANNARtificial neural network

ARAndrogen receptor

ANSAutonomic Nervous System


CBCarotid body

CCHSCongenital central hypoventilation syndrome

CHSCentral Hypoventilation Syndrome

EAHCEuropean Agency for Health and Consumers

Egr2Early Growth Response Protein 2

EUCHSEuropean Central Hypoventilation Syndrome

FRAPFluorescence recovery after photo-bleaching

HSCRHirschsprung disease

ICUIntensive care unit

Lbx1Ladybird homeobox 1

LO-CHSLater-onset CCHS

NI-HMPPVNon-invasive home mechanical positive-pressure ventilator

nTSnucleus of the solitary tract

PARMPolyalanine repeat expansion mutation

PHEAPublic Health European Agency

REMRapid eye movement

RTNRetro-trapezoid nucleus

HMVHome mechanical ventilation

SSSSinus node dysfunction or sick sinus syndrome

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Autor: Ha Trang - Jean-François Brunet - Hermann Rohrer - Jorge Gallego - Jeanne Amiel - Tiziana Bachetti - Kenneth H Fischbeck


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