I-CCHS yintlungu yokuphefumula eqala kwasekuqaleni ebomini
I-congenital central hypoventilation syndrome (CCHS), eyaziwa nangokuthi i-Ondine syndrome, yintlupheko echaphazela ukukwazi ukuphefumula. Abantu abaneCCHS banenkxalabo yokuphefumla ngokufanelekileyo, ngakumbi xa belele. Esikhundleni sokuphefumula rhoqo, abantu abaneCCHS hypoventilate (bathabathe umoya ophefumulayo), okunciphisa inani le-oksijini egazini kunye nokwandisa amazinga e-carbon dioxide.
I-CCHS icingelwa ukuba ifuthe ngabantu abayi-1 000. Nangona kunjalo, le nombolo ingaba phezulu njengoko abaphandi bakholelwa ukuba ezinye iimeko zentsholongwane ye-infant disease syndrome (i-SIDS) ingaba yiCCHS engafumaneki. I-defhene yegenes (PHOX2B) idibene ne-congenital central hypoventilation syndrome. Lo mzimba ugqugquzela ukubunjwa kwe-neuron kwinkqubo yeentlanzi. Isiphene kule mfuza singachaza ukuba kutheni umntu onesiCCS enzima ukulawula ukuphefumula.
I-CCHS yimizimba yezofuzo . Umzali omnye kuphela kufuneka adlule phantsi iizakhi zomntwana ukuba zithinteke. Nangona kunjalo, iipesenti ezingama-90 zamatyala kubangelwa ukutshintshwa kwezinto ezintsha - oku kuthetha ukuba ayidlulanga.
Iimpawu zeCCHS
Iintsana ezizalwe ngeempawu zeCCHS zinokuqala ukusuka kwi-mild to severe, kwaye zingabandakanya:
- Ukuphefumla kakubi okanye ukuphefumula okupheleleyo kokuphefumula, ngokukhethekileyo ngexesha lokulala
- Abafundi abangaqhelekanga (iipesenti ezingama-70 zabantu)
- Ukondla ubunzima ngenxa ye- acid reflux kunye nokwehla kwamathumbu emathumbu
- Isifo se-Hirschsprung, isifo se-intestinal esenza kube nzima ukugqithisa isitulo (iipesenti ezingama-20 zabantu)
- Ukunciphisa amandla okuva intlungu
- Iziqwenga zokunyuka
- Iqondo lobushushu obuphantsi
- Ubuso obufutshane, obunobhokisi obukhulu
- Ubunzima beCognitive
Ukufumana iSifo
Ukuze kuhlolwe ukuba unesifo esiphambili se-hypoventilation syndrome, kufuneka impawu ezilandelayo:
- Ubungqina obungapheliyo bokuphefumula kakubi ngexesha lokulala
- Iimpawu eziqala ngunyaka wokuqala wobomi
- Ayikho enye imimoya yokuphefumula okanye i-muscular engayibangela ubunzima bokuphefumla
- Akukho bungqina besifo senhliziyo.
Ezinye iintsana ezineCCHS zicinga ukuba ziphosakele zicinga ukuba zineziphene zentliziyo okanye zinezinye iintlobo zokuphefumula. Ukuxilongwa ngokucacileyo kungenziwa ngokusebenzisa uvavanyo lwemizimba yeziphene ze-PHOX2B.
Ukunyanga iCCHS
Ukuba iCCHS ikhunjulwa, isifundo sokulala singancedisa ukuba ubunzima obunzima bokuphefumula bunjani, kunye nezo zonyango eza kufuneka. Olunye uvavanyo lweemisebenzi eziphambili zokuphefumula lunokuqhutywa kunye. Ukugqiba iimvavanyo zesifo sengqondo kunye neengqondo kunokulawula nayiphi na enye into yokuphefumula okanye i-muscular disorder. Ukuxilongwa kwangaphambili kunye nokonyango kubalulekile ukukhusela iingxaki ezinzulu ezibangelwa ngamaxesha aphantsi okanye akakho oksijeni.
Uphulo lujolise ekuboneleleni ngenkxaso yokuphefumla, ngokuqhelekileyo ngokusebenzisa ukuphefumula (umoya womoya). Uninzi lwabantu abaneCCHS luya kufuna i- tracheostomy . Abanye abantwana abaneCCHS baya kufuna i-ventilator iiyure ezingama-24 ngosuku. Abanye banokufuna kuphela uncedo lokuphefumla xa belele. Kwamanye abantu, ukufakelwa okutyunjelwayo kwisisipha somnxeba kunokuvumela ukuvuselelwa kombane we-muscle ukulawula ukuphefumla.
Abantwana abaneCCHS banako ukukhokela ubomi obusebenzayo. Kodwa ke, bafuna ukuvavanywa okufutshane ngelixa bebhukuda okanye bedlala emachibini, ekubeni imizimba yabo ingakhohlwa ukuphefumula ngexesha elingaphantsi kwamanzi. I-CCHS yimiqathango yokuphila yonke efuna ukubeka iliso rhoqo kunye nokunamathela ngokuthe ngqo kunyango. Ngokubamba le meko kwangoko kwaye emva kwenkqubo yokwelashwa, abo abaneemeko banokulinda ixesha lokuphila.
Imithombo:
Gozal, D. (2002). Isiqalekiso. eMedicine.
J Amiel, B Laudier, T Attié-Bitach, H Trang, L de Pontual, B Gener, D Trochet, H Izixhobo, uP Ray, M Simonneau, M Vekemans, A Munnich, C Gaultier & S Lyonnet. (Matshi 17, 2003). Ukwandiswa kwe-Polyalanine kunye nokuguqulwa kwesimo se-homeobox gene PHOX2B kwi-congenital central hypoventilation syndrome. Uhlobo lwe-Genetics , kwi-intanethi.
I-Reference Reference Home. I-hypoentilation syndrome ye-congenital central. (2008)