Congenital central hypoventilation syndrome diagnosis and treatment / 国际儿科学杂志
International Journal of Pediatrics
;
(6): 822-825, 2017.
Article
Dans Chinois
| WPRIM
| ID: wpr-692408
ABSTRACT
Congenital central hypoventilation syndrome (CCHS)is a rare disorder characterized by hypoventilation during sleep and blunted ventilatory responses to hypercapnia and hypoxemia.It is normally found in neonatal and infant.Late-onset cases have been reported recently.The paired-like homeobox gene PHOX2B is the disease-defining gene for CCHS;a mutation in the PHOX2B gene is requisite to the diagnosis of CCHS.As a lifelong disease,the key treatment is ensuring adequate ventilation and oxygenation,effective modalities include positive pressure ventilation,negative pressure ventilation and diaphragmatic pacing.The strategy of anti-mutant protein and the use of progestin open up clinical perspectives to enhance ventilation in CCHS patients.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Type d'étude:
Etude diagnostique
langue:
Chinois
Texte intégral:
International Journal of Pediatrics
Année:
2017
Type:
Article
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