Congenital central alveolar sleep-related hypoventilation (Q41284): Difference between revisions
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A síndrome da hipoventilação alveolar central congênita (CCHS) é um transtorno de disfunção autonômica, primariamente a insuficiência do controle central automático da respiração, causada por uma mutação do gene PHOX2B. A CCHS é caracterizada por hipoventilação, que é pior durante o sono em comparação com a vigília. O início é usualmente ao nascimento, e a CCHS mais comumente se apresenta em um bebê de aparência normal em quem se nota cianose, dificuldades de alimentação, hipotonia, ou menos comumente, apneia central. A gravidade é relacionada à mutação específica presente. Indivíduos com variantes mais leves do transtorno podem não buscar atenção clínica até a vida adulta. _x000D_ _x000D_ Note: Um diagnóstico definitivo requer a demonstração da mutação PHOX2B e evidência objetiva baseada em polissonografia com monitorização do dióxido de carbono (CO2) por medidas transcutânea, arterial ou tidal final. | |||
| description / en | description / en | ||
Congenital central alveolar hypoventilation syndrome (CCHS) is a disorder of autonomic dysfunction, primarily the failure of automatic central control of breathing, caused by a mutation of the PHOX2B gene. CCHS is characterised by hypoventilation, which is worse during sleep than wakefulness. Onset is usually at birth, and CCHS most commonly presents in an otherwise normal-appearing infant who is noted to have cyanosis, feeding difficulties, hypotonia or, less commonly, central apnoea. Severity is related to the specific mutation present. Individuals with milder variants of the disorder may not present for clinical attention until adulthood. Note: A definitive diagnosis requires demonstration of PHOX2B mutation and objective evidence based on polysomnography with carbon dioxide (CO2) monitoring (by arterial, end-tidal or transcutaneous measures). | |||
Revision as of 07:23, 13 August 2026
Congenital central alveolar hypoventilation syndrome (CCHS) is a disorder of autonomic dysfunction, primarily the failure of automatic central control of breathing, caused by a mutation of the PHOX2B gene. CCHS is characterised by hypoventilation, which is worse during sleep than wakefulness. Onset is usually at birth, and CCHS most commonly presents in an otherwise normal-appearing infant who is noted to have cyanosis, feeding difficulties, hypotonia or, less commonly, central apnoea. Severity is related to the specific mutation present. Individuals with milder variants of the disorder may not present for clinical attention until adulthood. Note: A definitive diagnosis requires demonstration of PHOX2B mutation and objective evidence based on polysomnography with carbon dioxide (CO2) monitoring (by arterial, end-tidal or transcutaneous measures).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 7A42.1 |
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| English | Congenital central alveolar sleep-related hypoventilation |
Congenital central alveolar hypoventilation syndrome (CCHS) is a disorder of autonomic dysfunction, primarily the failure of automatic central control of breathing, caused by a mutation of the PHOX2B gene. CCHS is characterised by hypoventilation, which is worse during sleep than wakefulness. Onset is usually at birth, and CCHS most commonly presents in an otherwise normal-appearing infant who is noted to have cyanosis, feeding difficulties, hypotonia or, less commonly, central apnoea. Severity is related to the specific mutation present. Individuals with milder variants of the disorder may not present for clinical attention until adulthood. Note: A definitive diagnosis requires demonstration of PHOX2B mutation and objective evidence based on polysomnography with carbon dioxide (CO2) monitoring (by arterial, end-tidal or transcutaneous measures). |
