Mmene mungamvetsetse matendawa
Mu 1981, mawu akuti CHARGE adalengedwera kufotokozera zigawo zolepheretsa kubadwa zomwe anazizindikiritsa ana. CHIZINDIKIRO chikuyimira:
- Coloboma (diso)
- Ziphuphu za mtima za mtundu uliwonse
- Atresia (choanal)
- Kutaya (za kukula ndi / kapena chitukuko)
- Chiwerewere chikusowa
- Makutu amalephera
Zinalimbikitsidwa kuti matenda a matendawa athandizidwe ndi kukhalapo kwa zinthu zinayi izi.
Kuchokera apo, madokotala adziwa kuti tanthawuzoli ndi chidziwitso cha chidziwitso sichiganiziranso zochitika zina zambiri za matenda aakulu, kapena kuti ana ena omwe ali ndi matenda sanakwaniritsidwe.
Genetics ya CHARGE Syndrome
Geni yokhudzana ndi matenda a CHARGE yadziwika pa chromosome 8 ndipo imakhudza kusintha kwa chibadwa cha CHD7 (jini la CHD7 ndilo lokha lomwe amadziwika kuti ali ndi matendawa.) Ngakhale panopa akudziwika kuti matenda a CHARGE ndi matenda ovuta a mankhwala Chifukwa cha vuto la chibadwa, dzina silinasinthe. Ngakhale kuti CHD7 zamoyo zimasintha kuchokera ku mafilimu ambiri, nthawi zambiri zimachokera kumasinthidwe atsopano ndipo mwana wakhanda amakhala yekhayo m'banja lomwe ali ndi matenda.
Chikoka cha CHARGE Syndrome
Matenda aakulu amapezeka pafupifupi 1 pa 8,500 mpaka 10,000 kubadwa padziko lonse lapansi.
Zizindikiro za CHARGE Syndrome
Zizindikiro zakuthupi za mwana yemwe ali ndi matenda aakulu zimakhala zosiyana kwambiri ndi zachibadwa. Mwana aliyense wobadwa ndi matenda angakhale ndi mavuto osiyanasiyana komanso zina mwazofala kapena zolepheretsa kubadwa ndi:
C- Mzinda wa Diso:
- Matendawa amakhudza pafupifupi 80 mpaka 90 peresenti ya anthu omwe ali ndi matenda aakulu
- A mtundu wa coloboma uli ndi mantha (osokoneza) nthawi zambiri kumbuyo kwa diso
- Mmodzi kapena onse awiri angakhale ang'onoang'ono (microphthalmos) kapena akusowa (anophthalmos)
C ikhoza kutanthauziranso za Cranial Nerve Abnormality:
- 90 mpaka 100 peresenti ya anthu omwe ali ndi CHIKHALIDWE CHAKWALA amakhala ndi kuchepa kapena kutaya kwathunthu kwa kumveka kwawo kwa fungo (anosmia)
- 70 mpaka 80 peresenti ya anthu akuvutika kumeza.
- Kufa ziwalo ( zofooka ) pambali imodzi kapena mbali zonse zikupezeka pakati pa 50 ndi 90 peresenti ya anthu omwe ali ndi matenda
H- Wokhulupirika Mtima:
- 75 peresenti ya anthu amakhudzidwa ndi mitundu yosiyana ya zofooka za mtima
- Chizolowezi cha mtima nthawi zambiri ndi dzenje mu mtima
A- Atresia wa Choanae:
- An atresia amatanthauza kupezeka kwa ndime yopanda thupi. Kwa anthu omwe ali ndi CHIKHALIDWE CHAKHALA, kumbuyo kwa ziphuphu zamkati kumbali imodzi kapena zonsezi ndizochepa (stenosis) kapena sizigwirizana ndi kumbuyo kwa mmero (atresia)
- Atresia iyi ilipo pakati pa 35 ndi 65 peresenti ya anthu omwe ali ndi CHIMODZI CHIMODZI
R- Retardation (Maganizo ndi Kukula)
- 70 peresenti ya anthu okhudzidwa ndi CHINENERO amachepetsa IQs zomwe zingakhale zochokera kuzinthu zachibadwa mpaka kuwonongeka kwa maganizo
- 80 peresenti ya anthu omwe akukhudzidwa ndi kuchepetsa kukula, ndipo kuchepetsa kukula uku kumawoneka m'miyezi isanu ndi umodzi yoyamba ya moyo pamene khanda limalephera kukula bwino
- Kulepheretsa kukula kumachitika chifukwa cha kuchepa kwa hormone ndi / kapena kudyetsa vuto (kukula kwa mwana kumayamba kukumana ali wakhanda)
G- Chikhalidwe Chakumapeto:
- Ziwalo zobisika zopanda mphamvu ndi chizindikiro chodziwika cha matenda aakulu mwa amuna, koma osati ochuluka kwambiri kwa akazi
- Amuna 80 mpaka 90 mwa anthu 100 alionse amadwala matenda opatsirana pogonana, koma 15 mpaka 25 peresenti ya akazi omwe ali ndi matenda amakhudzidwa
Zovuta Kumvetsera:
- Zovuta zenizeni zimakhudza 95 mpaka 100 peresenti ya anthu ali ndi zilema za khutu lakunja lomwe lingathe kuwonetsedwa
- Anthu 60 mpaka 90 mwa anthu 100 alionse amamva mavuto m'makutu amkati, monga mitsempha yambiri yamagulu kapena ziwalo za mitsempha zomwe zingabweretse wogontha
Pali mavuto ena ambiri omwe mwana ali ndi matenda aakulu omwe angakhale nawo kuwonjezera pa zizindikiro zomwe zimapezeka pamwambapa. Izi siziri zofanana ndi VATER Syndrome , yomwe imasintha ndondomeko yake kuti ikhale ndi zofooka zina zobereka.
Mmene Mwana Amadziwidwira ndi CHARGE Syndrome
Matenda a CHARGE amachokera kumagulu a zizindikiro za thupi komanso zizindikiro zomwe mwana aliyense amaonetsa. Zisonyezo zitatu zowonetsera kwambiri ndizozigawo zitatu: Coloboma, Choanal atresia, ndi Mitsempha yodabwitsa yamakono m'makutu.
Palinso zizindikiro zina zazikulu, monga mawonekedwe osamvetsetseka a makutu, omwe amapezeka m'thupi lachilendo odwala koma osagwirizana ndi zina. Zizindikiro zina, monga vuto la mtima, zingathenso kuchitika m'ma syndromes kapena zikhalidwe zina, motero zingakhale zosavuta kutsimikizira kuti akudwala matendawa.
Mwana wakhanda akudandaula kuti ali ndi matenda OTHANDIZA ayenera kuyesedwa ndi katswiri wa zachipatala yemwe amadziwa matenda. Kuyeza kwa majeremusi kungatheke, koma ndi okwera mtengo ndipo amangopangidwa ndi ma laboratories ena.
Mmene Chilombo Chachilombo Chimachitikira
Makanda obadwa ndi matenda OTHANDIZA ali ndi mavuto ambiri azachipatala ndi aumunthu, ena mwa iwo, monga vuto la mtima, akhoza kuopseza moyo. Mitundu yambiri ya mankhwala ndi / kapena opaleshoni ingagwiritsidwe pofuna kuthana ndi vutoli.
Mankhwala, ntchito, ndi mauthenga angathandize mwana kukwaniritsa zomwe angathe. Ana ambiri omwe ali ndi matenda OTHANDIZA adzafunikira maphunziro apadera chifukwa cha kuchepa kwachitukuko ndi kuyankhulana komwe kumabwera chifukwa cha kumva ndi masomphenya.
Mtundu wa Moyo kwa Anthu Odwala CHARGE Syndrome
Popeza zizindikiro zimakhala zosiyana kwambiri ndi munthu mmodzi yemwe ali ndi matenda aakulu, zimakhala zovuta kufotokozera kuti moyo uli bwanji chifukwa iwo "ali" omwe ali ndi matenda. Kafukufuku wina adawona anthu opitirira 50 omwe ali ndi matendawa omwe anali pakati pa zaka 13 ndi 39. Pakati pa anthu onse, chiwerengero cha nzeru pakati pa anthuwa chinali pa sukulu ya 4. Mavuto omwe ankakumana nawo kawirikawiri ankaphatikizapo matenda a mafupa, kugona tulo , mapuloteni a m'mitsempha , nkhawa, ndi chiwawa. Mwamwayi, nkhani zowonongeka zingasokoneze ubale ndi abwenzi kunja kwa banja, koma mankhwala, kaya kulankhula, thupi, kapena ntchito zingakhale zothandiza kwambiri. Ndizowathandiza achibale ndi abwenzi, makamaka kuti adziwe nkhani zowonongeka, monga mavuto akumva akhala akulakwitsa ngati kuchepa kwachitsulo kwa zaka zambiri.
Zotsatira:
Hartshorne, N., Hudson, A., MacCuspie, J. et al. Umoyo wa Achinyamata ndi Achikulire omwe ali ndi CHARGE Syndrome. Mankhwala a Genetics Medical Journal. Gawo A. 2016. 170 (8): 2012-21.
Hudson, A., Trider, C., ndi K. Blake. CHARGE Syndrome. Matenda a Kubwereza . 2017. 38 (1): 56-59.
Vesseur, A., Langereis, M., Free, R. et al. Mphamvu ya Kumva Kutayika ndi Kuzindikira Maluso pa Kukula kwa Zinenero mu CHARGE Syndrome. Mankhwala a Genetics Medical Journal. Gawo A. 2016. 170 (8): 2022-30.
Laibulale ya National National Medicine. Zolemba za Kunyumba za Genetics. CHARGE Syndrome. Kusinthidwa 01/03/17. https://ghr.nlm.nih.gov/condition/charge-syndrome#statistics