Congenital central hypoventilation syndrome diagnosis and treatment
10.3760/cma.j.issn.1673-4408.2017.12.003
- VernacularTitle:儿童先天性中枢性低通气综合征诊治进展
- Author:
Junwen GE
1
Author Information
1. 200062,上海交通大学附属儿童医院上海市儿童医院心胸外科
- Keywords:
Children;
Congenital central hypoventilation syndrome;
Diagnosis;
Treatment
- From:
International Journal of Pediatrics
2017;44(12):822-825
- CountryChina
- Language:Chinese
-
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.
