CCHS chirwere chinopfurikidza chinotanga kutangisa muupenyu
Congenital central hypoventilation syndrome (CCHS), inozivikanwawo seOndine syndrome, chirwere chinokanganisa kukwanisa kwako kufema. Vanhu vane CCHS vanotambudzika kufema zvakanaka, kunyanya pavanorara. Panzvimbo yekufema nguva dzose, vanhu vane CCHS hypoventilate (tora kufema kunopisa), izvo zvinoderedza kuwanda kwomweya muropa uye kunowedzera carbon dioxide.
CCHS inofungidzirwa kuti inokanganisa vanhu vanenge 1 000. Zvisinei, nhamba iyi inogona kunge yakareba sekuti vatsvakurudzi vanodavira kuti dzimwe mamiriro ekuda kamuwana kufa syndrome (SIDS) angave asina kuwanikwa CCHS. Chiremera chemafu (PHOX2B) chakabatanidzwa ne congenital central hypoventilation syndrome. Iyi gene inokurudzira neuron kuumbwa mumutambo wenheyo. Chirema mune iri jen rinogona kutsanangura kuti nei mumwe munhu ane CCHS ane dambudziko rokugadzirisa kufema kwavo.
CCHS inoshandisa maitiro . Mubereki mumwe chete ndiye anofanira kupfuurira pasi majeni ekuti mwana wavo atakanganiswe. Zvisinei, 90 muzana yematambudziko inokonzerwa nekuchinja mutsva-kureva kuti havana kudarika.
Zviratidzo zveCCHS
Vacheche vakaberekerwa nezviratidzo zveCCHS vanogona kubva pane zvishoma kusvika kune zvakanyanya, uye zvinogona kusanganisira:
- Kufuridzira kana kushayikwa kwakakwana kwekupema kwepanyama, kunyanya munguva yehope
- Vadzidzi vasina kudzidza (70 muzana yevanhu)
- Kudyisa dambudziko nemhaka yema acid reflux uye kuderedza mumatumbo mumusana
- Chirwere cheHirschsprung, chirwere chemukati chinokonzera kuti zvive nyore kudarika chero (20 muzana yevanhu)
- Kupera simba rekunzwa kurwadziwa
- Zvikamu zvekuwedzera kutuka
- Kupisa kwemuviri kwakadzika
- Chiso chiduku, chakakura chakafanana nebhokisi
- Kuziva njodzi
Kuwana Kuongororwa
Kuti zviwanikwe ne congenital central hypoventilation syndrome, zviratidzo zvinotevera zvinofanira kuvapo:
- Unopupurira uchapupu hwokusafema kufema munguva yehope
- Zviratidzo zvinotanga mugore rekutanga rehupenyu
- Hapana imwe mamiriro ekufema kana musimba anogona kukonzera matambudziko ekufema
- Hapana uchapupu hwechifo chemoyo.
Vamwe vana vaduku neCCHS vangave vachifunga nenzira isina kururama kuti vane urombo hwemwoyo kana kuti vane imwe mhando yekufema. A definitive diagnosis ingagadzirwa kuburikidza nehutachiona hwekuongorora kwePHOX2B kukanganisa.
Kurapa CCHS
Kana CCHS inenge ichifungidzirwa, kuongorora kurara kunogona kubatsira kubvisa kusuruvara kwakaoma zvakadini, uyewo kuti zvipi zvinorapwa zvichadiwa. Zvimwe zvakakosha zvekuporesa mabasa zvinogona kuitwa pamwe chete. Kuzadzwa kwepfungwa uye kwepfungwa dzetsvina kunogona kutonga kunze kweumwe rudzi rwemhando yekufema kana muswere chirwere. Kunyanya kuongororwa uye kurapwa zvakakosha kudzivirira zvinetso zvakakomba zvinokonzerwa nenguva dzepasi kana kwete oxygen.
Chirwere chinotarirwa pakupa rubatsiro rwekufema, kazhinji kuburikidza nokushandiswa kwepemiti (ventilator). Vanhu vakawanda vane CCHS vachada tracheostomy . Vamwe vana vane CCHS vachada ventirator maawa 24 pazuva. Vamwe vangangoda kubatsirwa nekufema kana vakarara. Mune vamwe vanhu, kushandiswa kwepurojekiti mumusana wekunyora kunogona kubvumira kushandiswa kwemagetsi kwemuviri kunodzora kufema.
Vana vane CCHS vanogona kutungamirira hupenyu hunoshanda. Vanoita, zvisinei, vanoda kutarisirwa pedyo pavanenge vashambira kana vachitamba mumadziva, sezvo miviri yavo inogona kukanganwa kufema mukati memvura. CCHS inorarama upenyu hunoda nguva dzose kuongorora uye kunyatsoteerera kurapwa. Nokubata mamiriro ekutanga uye kutevera kurapa kweprototi, avo vane chirwere vanogona kuva nemuwandu weupenyu hunotarisirwa.
Sources:
Gozal, D. (2002). Ondine kutuka. eMedicine.
J Amiel, B Laudier, T Attié-Bitach, H Trang, L de Pontual, B Gener, D Trochet, H Vanches, P Ray, M Simonneau, M Vekemans, A Munnich, C Gaultier & S Lyonnet. (March 17, 2003). Polyalanine kuwedzera uye kuchinja kwemafashoni emapuranga e-homeobox gene PHOX2B mu congenital central hypoventilation syndrome. Nature Genetics , paIndaneti.
Genetics Home Reference. Congenital central hypoventilation syndrome. (2008)