I-CCHS yinkinga yokuphefumula eqala ekuqaleni kokuphila
I-congenital central hypoventilation syndrome (CCHS), eyaziwa nangokuthi i-Ondine syndrome, iyisifo esithinta ikhono lakho lokuphefumula. Abantu abane-CCHS banenkinga yokuphefumula kahle, ikakhulukazi ngenkathi belele. Esikhundleni sokuphefumula njalo, abantu abane-CCHS hypoventilate (bathathe umoya ophefumulayo), okunciphisa inani le-oksijini egazini futhi kwandisa amazinga e-carbon dioxide.
I-CCHS kulinganiselwa ukuthi iyathinta abantu abangaba ngu-1 000. Kodwa-ke, le nombolo ingase ibe ngaphezulu njengoba abacwaningi bakholelwa ukuthi ezinye izimo zokuzalwa kwezinsana ezingenangqondo (SIDS) zingase zingatholakali i-CCHS. Isici sofuzo (PHOX2B) sihlotshaniswe ne-congenital central hypoventilation syndrome. Leli gciwane likhuthaza ukwakheka kwe-neuron ohlelweni lwezinzwa. Isici kule genethi singachaza ukuthi kungani umuntu ophethe iCCHS enenkinga yokulawula ukuphefumula.
I-CCHS isimo sezakhi zofuzo . Umzali oyedwa kuphela okufanele adlule phansi izakhi zofuzo zomntwana wakhe ukuze zithinteke. Kodwa-ke, amaphesenti angama-90 amacala avela ekuguqulweni okusha - okusho ukuthi awadluli phansi.
Izimpawu ze-CCHS
Izinsana ezizalwe ngezimpawu ze-CCHS zingahluka kusukela emnene kuya ezinzima, futhi zingabandakanya:
- Ukuphefumula okungahambi kahle noma ukuphefumula okuphelele kokuphefumula, ikakhulukazi ngesikhathi sokulala
- Abafundi abangavamile (amaphesenti angu-70 abantu)
- Ukuncelisa ubunzima ngenxa ye-reflux ye-asidi kanye nokwehla kwamandla emathumbu emathunjini
- Isifo se-Hirschsprung, isifo sokugoma esiswini esenza kube nzima ukudlula isitebe (amaphesenti angu-20 abantu)
- Ukunciphisa ikhono lokuzwa ubuhlungu
- Iziqephu zokujuluka okukhulu
- Ukushisa komzimba okuphansi
- Ubuso obufushane obunobhokisi obukhulu
- Izinkinga zokuqonda
Ukuthola Ukuxilongwa
Ukuze kutholakale ukuthi une-congenital central hypoventilation syndrome, lezi zimpawu kumele zibe khona:
- Ubufakazi obuphikelela bokuphefumula kabi ngesikhathi sokulala
- Izimpawu eziqala ngonyaka wokuqala wokuphila
- Ayikho iminye imibono yokuphefumula noma yemisipha engabangela ubunzima bokuphefumula
- Akukho bufakazi besifo senhliziyo.
Ezinye izinsana ezine-CCHS zingase zicatshangelwe ngephutha ukuthi zineziphambeko zenhliziyo noma zinezinye izinhlobo zenkinga yokuphefumula. Ukuxilongwa okucacile kungenziwa ngokusebenzisa ukuhlolwa kofuzo kwamaphutha we-PHOX2B.
Ukwelapha i-CCHS
Uma kucatshangwa i-CCHS, isifundo sokulala singasiza ekunqumeni ukuthi kunzima kanjani ukuphefumula okunzima, kanye nokuthi yiziphi zokwelashwa ezizodingeka. Okunye ukuhlolwa okusebenzayo okuphefumula kungenziwa futhi. Ukuqedela ukuhlolwa kwenhliziyo nokuhlolwa kwengqondo kungaphazamisa noma yiluphi olunye uhlobo lwe-respiratory or muscular disorder. Ukuxilongwa kokuqala kanye nokwelashwa kubalulekile ukuvimbela izinkinga ezinkulu ezibangelwa izikhathi ezincane noma ezingekho oksijeni.
Ukwelashwa kugxile ekuhlinzekeni ukuphefumula, ngokuvamile ngokusebenzisa ukuphefumula (umoya womoya). Iningi labantu abaneCCHS lizodinga i- tracheostomy . Ezinye izingane ezineCCHS zizodinga i-ventilator amahora angu-24 ngosuku. Abanye bangadinga kuphela usizo lokuphefumula uma belele. Kwamanye abantu, ukufakelwa okuhlinzekwayo emisipha ye-diaphragm kungavumela ukugqugquzela kagesi kwemisipha ukulawula ukuphefumula.
Izingane ezine-CCHS zikwazi ukuhola ukuphila okusebenzayo. Kodwa-ke, badinga ukunakekelwa okusheshayo ngenkathi bedonsa noma bedlala emachibini, ngoba imizimba yabo ingakhohlwa ukuphefumula ngenkathi iphansi kwamanzi. I-CCHS yisimo sempilo yonke esidinga ukuqapha njalo nokunamathela ngokuqinile ekwelapheni. Ngokubamba lesi simo ngaphambi kwesikhathi nangemva kokwelashwa kweprotocol, labo abanesimo bangaba nokuphila okuphakathi kwesikhathi.
Imithombo:
I-Gozal, D. (2002). Isiqalekiso sokuphela. eMedicine.
J Amiel, B Laudier, T Attié-Bitach, H Trang, L de Pontual, B Gener, D Trochet, H Etchevers, Ray Ray, M Simonneau, M Vekemans, A Munnich, C Gaultier & S Lyonnet. (Mashi 17, 2003). Ukwandiswa kwe-Polyalanine nokuguqulwa kwe-frameshift kwegciwane le-homeobox elihlanganisiwe eliphakathi kwe-PHOX2B ku-congenital central hypoventilation syndrome. I-Nature Genetics , ku-intanethi.
I-Genetics Home Reference. I-congenital central hypoventilation syndrome. (2008)