{"entities":{"Q41284":{"pageid":31652,"ns":120,"title":"Item:Q41284","lastrevid":136823,"modified":"2026-08-13T07:23:59Z","type":"item","id":"Q41284","labels":{"mul":{"language":"mul","value":"7A42.1"},"pt-br":{"language":"pt-br","value":"Hipoventila\u00e7\u00e3o alveolar central cong\u00eanita relacionada ao sono"},"en":{"language":"en","value":"Congenital central alveolar sleep-related hypoventilation"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A s\u00edndrome da hipoventila\u00e7\u00e3o alveolar central cong\u00eanita (CCHS) \u00e9 um transtorno de disfun\u00e7\u00e3o auton\u00f4mica, primariamente a insufici\u00eancia do controle central autom\u00e1tico da respira\u00e7\u00e3o, causada por uma muta\u00e7\u00e3o do gene PHOX2B. A CCHS \u00e9 caracterizada por hipoventila\u00e7\u00e3o, que \u00e9 pior durante o sono em compara\u00e7\u00e3o com a vig\u00edlia. O in\u00edcio \u00e9 usualmente ao nascimento, e a CCHS mais comumente se apresenta em um beb\u00ea de apar\u00eancia normal em quem se nota cianose, dificuldades de alimenta\u00e7\u00e3o, hipotonia, ou menos comumente, apneia central. A gravidade \u00e9 relacionada \u00e0 muta\u00e7\u00e3o espec\u00edfica presente. Indiv\u00edduos com variantes mais leves do transtorno podem n\u00e3o buscar aten\u00e7\u00e3o cl\u00ednica at\u00e9 a vida adulta. _x000D_ _x000D_ Note: Um diagn\u00f3stico definitivo requer a demonstra\u00e7\u00e3o da muta\u00e7\u00e3o PHOX2B e evid\u00eancia objetiva baseada em polissonografia com monitoriza\u00e7\u00e3o do di\u00f3xido de carbono (CO2) por medidas transcut\u00e2nea, arterial ou tidal final."},"en":{"language":"en","value":"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)."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"90fb51a191ec4a593239ccd059e82dc31e1d4d0b","datavalue":{"value":"https://id.who.int/icd/entity/1750742010","type":"string"},"datatype":"url"},"type":"statement","id":"Q41284$347C8DD2-A9C9-4629-B891-1CF3CF7D8F58","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"38566d5dde570dde4c8ce7e7d92f40dc0599d031","datavalue":{"value":"CID11:7A42.1","type":"string"},"datatype":"string"},"type":"statement","id":"Q41284$16716C94-5BB4-4E13-893D-DD79A2D26608","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"e342704e2b9438d614ce64cdfc2121f408c0a381","datavalue":{"value":"dki-india-7A42.1","type":"string"},"datatype":"string"},"type":"statement","id":"Q41284$F200EF11-FB36-4CA9-AA5C-E1C23F1D6D1E","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q41284$4475782F-1B6D-4246-88A4-A80C7E6E2BCD","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q41284$CD40D135-FEF7-4BDC-B6F6-EEEE23C0078B","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q41284$D37C0147-6635-467D-B5F2-C25D1392BBD3","rank":"normal"}],"P89":[{"mainsnak":{"snaktype":"value","property":"P89","hash":"4edf39454276e1f01ecf2a3245450e8c7bcb733c","datavalue":{"value":{"entity-type":"item","numeric-id":17084,"id":"Q17084"},"type":"wikibase-entityid"},"datatype":"wikibase-item"},"type":"statement","id":"Q41284$BEB4114D-BEF6-4CE0-97AA-9F14D4AA2EC8","rank":"normal"}]},"sitelinks":{}}}}