Congenital Central Hypoventilation Syndrome: Diagnosis and Long-Term Ventilatory Outcomes.

Clinical medicine insights. Pediatrics(2023)

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摘要
Our study demonstrates prolonged survival and good long-term respiratory outcomes possibly related to the early diagnosis of CCHS, optimizing AV strategies, and multidisciplinary care. The increasing number of patients attaining adulthood highlights the necessity for multidisciplinary care for adults with CCHS.
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关键词
Congenital central hypoventilation syndrome, PHOX2B, diaphragm pacing, home ventilation, tracheostomy, central sleep apnea
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