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Войти в исследования Chest · 2026
Dyspnea during resting breathing and carbon dioxide rebreathing in adult patients with congenital central hypoventilation syndrome.
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Bret Marlène, Laveneziana Pierantonio, Niérat Marie-Cécile, Lavault Sophie, Patout Maxime, Zaien Inès, Teulier Marion, Bianquis Clara, Straus Christian, Morélot-Panzini Capucine, Similowski Thomas
Аннотация
BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is an ultra-rare genetic disorder caused by PHOX2B mutations. Patients lack central CO2 chemosensitivity and require ventilatory support during sleep. Children with CCHS have been reported to lack CO2-induced air hunger, but respiratory sensations and dyspnea have not been characterized in adults.
RESEARCH QUESTION: Do genetically characterized adult CCHS patients experience respiratory sensations and dyspnea during unassisted resting breathing and CO2 rebreathing, and along which dimensions?
STUDY DESIGN AND METHODS: This was a prospective controlled observational study conducted on a convenience sample derived from a national cohort of an ultrarare disease. Thirteen adult CCHS patients carrying PHOX2B mutations underwent Multidimensional Dyspnea Profile (MDP) assessment during unassisted resting breathing and at the end of CO2 rebreathing. Healthy controls were studied under the same conditions.
RESULTS: Before the study, none of the patients had spontaneously reported dyspnea or bothersome respiratory sensations. When prompted with the MDP during resting breathing, 9/13 patients described breathing unpleasantness (non-zero MDP-A1) versus 0/18 controls (p < 0.0001), and 12/13 fulfilled criteria for dyspnea defined as breathing awareness associated with negative affect. During CO2 rebreathing, ventilatory responses remained profoundly blunted, yet breathing unpleasantness increased. Compared with controls, patients had lower sensory and affective ratings, with less frequent air hunger (p = 0.0108). MDP ratings did not correlate with ventilatory response to CO2 or genotype.
INTERPRETATION: Adult CCHS patients can experience conscious unpleasant breathing awareness at rest and retain a perceptual response to CO2 despite abolished or nearly abolished central chemosensitivity. These findings suggest respiratory interoceptive pathways beyond canonical brainstem chemosensitive circuits and support active multidimensional assessment of dyspnea in adult CCHS patients.
RESEARCH QUESTION: Do genetically characterized adult CCHS patients experience respiratory sensations and dyspnea during unassisted resting breathing and CO2 rebreathing, and along which dimensions?
STUDY DESIGN AND METHODS: This was a prospective controlled observational study conducted on a convenience sample derived from a national cohort of an ultrarare disease. Thirteen adult CCHS patients carrying PHOX2B mutations underwent Multidimensional Dyspnea Profile (MDP) assessment during unassisted resting breathing and at the end of CO2 rebreathing. Healthy controls were studied under the same conditions.
RESULTS: Before the study, none of the patients had spontaneously reported dyspnea or bothersome respiratory sensations. When prompted with the MDP during resting breathing, 9/13 patients described breathing unpleasantness (non-zero MDP-A1) versus 0/18 controls (p < 0.0001), and 12/13 fulfilled criteria for dyspnea defined as breathing awareness associated with negative affect. During CO2 rebreathing, ventilatory responses remained profoundly blunted, yet breathing unpleasantness increased. Compared with controls, patients had lower sensory and affective ratings, with less frequent air hunger (p = 0.0108). MDP ratings did not correlate with ventilatory response to CO2 or genotype.
INTERPRETATION: Adult CCHS patients can experience conscious unpleasant breathing awareness at rest and retain a perceptual response to CO2 despite abolished or nearly abolished central chemosensitivity. These findings suggest respiratory interoceptive pathways beyond canonical brainstem chemosensitive circuits and support active multidimensional assessment of dyspnea in adult CCHS patients.