CCHS ndi matenda opuma omwe amayamba msinkhu wa moyo
Matenda a congenital central hypoventilation (CCHS), omwe amadziwika kuti Ondine syndrome, ndi matenda omwe amachititsa kuti muzipuma. Anthu omwe ali ndi CCHS amavutika kupuma bwino, makamaka pamene akugona. Mmalo mopuma mokhazikika, anthu omwe ali ndi CCHS hypoventilate (amatha kupuma pang'ono), zomwe zimachepetsa kuchuluka kwa mpweya m'magazi ndipo zimapangitsa mpweya wa carbon dioxide.
CCHS ikuyenera kukhudza anthu pafupifupi 1,000. Komabe, chiwerengero ichi chikhoza kukhala chapamwamba monga momwe ochita kafukufuku amakhulupirira kuti matenda ena amodzi mwadzidzidzi imfa syndrome (SIDS) angakhale osadziwika CCHS. Matenda a jini (PHOX2B) agwirizanitsidwa ndi matenda a congenital central hypoventilation. Jini imeneyi imalimbikitsa maonekedwe a neuron mu dongosolo lamanjenje. Chilema mu jini iyi chikhoza kufotokoza chifukwa chake wina ali ndi CCHS ali ndi vuto lopuma kupuma kwake.
CCHS ndi chibadwa cha chibadwa . Mayi mmodzi yekha ayenera kupatsira mwana wake kuti asokonezeke. Komabe, 90 peresenti ya milandu imachokera kumasinthidwe atsopano - kutanthauza kuti sanadutse.
Zizindikiro za CCHS
Makanda obadwa ndi zizindikiro za CCHS akhoza kukhala wofatsa mpaka wovuta, ndipo angaphatikizepo:
- Kupuma kosauka kapena kuperewera kwa kupuma kokha, makamaka pogona
- Ana osaphunzira (70 peresenti ya anthu)
- Kudyetsa vuto chifukwa cha acid reflux ndi kuchepa kwa m'mimba motility
- Matenda a Hirschsprung, matenda a m'mimba omwe amachititsa kuti zikhale zovuta kudutsa chopondapo (20 peresenti ya anthu)
- Kuchepetsa kuthekera kwakumva kupweteka
- Zigawo zowonjezereka
- Kutentha kwa thupi
- Chithunzi chophweka, chomwe chimakhala ngati bokosi
- Mavuto ozindikira
Kupeza Kuzindikira
Pofuna kupezeka ndi congenital central hypoventilation syndrome, zizindikiro zotsatirazi ziyenera kukhalapo:
- Umboni wosatsutsika wa kupuma mokwanira pa nthawi ya tulo
- Zizindikiro zomwe zimayamba m'chaka choyamba cha moyo
- Palibe zochitika zina zozizira kapena zovuta zomwe zingathe kuwerengera zovuta za kupuma
- Palibe umboni wa matenda a mtima.
Ana ena omwe ali ndi CCHS akhoza kuganiza molakwika kuti ali ndi vuto la mtima kapena kukhala ndi vuto lina la kupuma. Chodziwika bwino chothetsera matenda chingapangidwe kupyolera mu kuyesa kwa majeremusi kwa zofooka za PHOX2B.
Akuchiza CCHS
Ngati CCHS ikukayikira, kuphunzira kugona kungathandize kudziwa momwe mavuto aakulu amathandizira kupuma, komanso momwe chithandizo chidzafunikire. Zina zapadera zozizira zowonjezera mayendedwe angathe kuchitidwa. Maphunziro onse a mtima ndi a ubongo akhoza kuthetsa mtundu wina uliwonse wa kupuma kapena minofu. Kuyezetsa ndi kuchiza koyambirira ndi kofunika kuti tipewe mavuto akuluakulu omwe amapezeka chifukwa cha mpweya wotsika kapena wopanda mpweya.
Chithandizo chimayang'ana kupereka chithandizo, kupyolera mwa kugwiritsa ntchito mpweya (mpweya wabwino). Anthu ambiri omwe ali ndi CCHS adzafuna tracheostomy . Ana ena omwe ali ndi CCHS amafunikira mpweya wokwanira maola 24 patsiku. Ena amafunika kuthandizidwa kupuma pamene akugona. Kwa anthu ena, kuikidwa opaleshoni mu minofu ya mthunzi kungathandize kuti magetsi azitulutsa mphamvu kuti aziletsa kupuma.
Ana omwe ali ndi CCHS amatha kukhala ndi moyo wokhutira. Komabe, amafunikira kuyang'anitsitsa pafupi pamene akusambira kapena kusewera m'madzi, chifukwa matupi awo amaiwala kupuma pamene ali m'madzi. CCHS ndi moyo wa moyo wonse umene umafuna kuwunika kawirikawiri ndi kutsatira mosamalitsa mankhwala. Pogwira vutoli mofulumira komanso kutsatira chithandizo cha mankhwala, anthu omwe ali ndi vutoli akhoza kukhala ndi nthawi yokhala ndi moyo.
Zotsatira:
Gozal, D. (2002). Temberero lakutaya. eMedicine.
J Amiel, B Laudier, T Attié-Bitach, H Trang, L de Pontual, B Gener, D Trochet, H Machesi, P Ray, M Simonneau, M Vekemans, A Munnich, C Gaultier & S Lyonnet. (March 17, 2003). Kuwonjezereka kwa Polyalanine ndi kusintha kwasintha kwa nyumba ya bokosi ya homeobox ya parox2B mu congenital central hypoventilation syndrome. Nature Genetics , pa intaneti.
Zolemba za Kunyumba za Genetics. Matenda a congenital central hypoventilation. (2008)