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.
Highlights
The Fourth International Conference on Primary Central Hypoventilation, SCIENCE & LIFE OF Central hypoventilation syndromes (CHS), was held in Warsaw, Poland, April 13–15, 2012
The meeting was under the patronage of the European Agency for Health and Consumers (EAHC) and Public Health European Agency (PHEA) of European Community
Around 8% of patients with the Congenital CHS (CCHS) phenotype have heterozygous Paired-like homeobox 2b (PHOX2B) gene mutations that do not lead to alanine expansion but frameshift, nonsense or missense [4,5,12,24,30]
Summary
The Fourth International Conference on Primary Central Hypoventilation, SCIENCE & LIFE OF CHS, was held in Warsaw, Poland, April 13–15, 2012. Around 8% of patients with the CCHS phenotype have heterozygous PHOX2B gene mutations that do not lead to alanine expansion but frameshift, nonsense or missense [4,5,12,24,30]. These patients are at high risk of developing neuroblastoma and Hirschsprung’s disease. PolyQ disorders, unlike CCHS, are late-onset, progress very slowly, and a large patient sample or a long follow-up period is required to test the efficacy of treatments on disease progression Both mouse models and clinical studies suggest that for treatmen Authors’ informations Other members of the European Central Hypoventilation Syndrome Consortium (Marek MIGDAL, MD, PhD, Warsaw, Poland; Jochen PETERS, MD, Munich, Germany; Johannes SCHOEBER, MD, Munich, Germany; Miriam KATZ-SALOMON, MD, Stockholm, Sweden; Agneta MARKSTROM, MD, Stockholm, Sweden; Martin SAMUELS, MD, Stoke-on-Trent, United Kingdom; Angeles GARCIA-TERESA, MD, Madrid, Spain; Raquel PORTO-ABAL, MD, Madrid, Spain; Maria-Helena ESTEVAO, MD, Coimbra, Portugal; Andrea PFLEGER, MD, Graz, Austria; Moritz ROHRBACH, MD, Munich, Germany; Raffaele PIUMELLI, MD, Firenze, Italy; Barbara GNIDOVEC, MD, Ljubljana, Slovenia; Irena SENECIC, MD, Zagreb, Croatia; David KILNER, MD, London, United Kingdom)
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