Kodi mukudziwa za matenda a Sandhoff? Tiyeni tikambirane za matenda osowa awa!

Kodi mudamvapo za matenda achilendo komanso osowa? Nthawi zina makanda amabadwa athanzi, koma patatha miyezi ingapo, amakula bwino. Lero tikambirana za matenda amodzi osowa koma oopsa kwambiri otchedwa Sandhoff disease . Dzinali likhoza kukhala latsopano kwa inu. Koma ndikofunikira kwambiri kudziwa za matendawa, makamaka ngati wina m'mabanja mwathu ali ndi vutoli.

Kodi Matenda a Sandhoff ndi chiyani?

Mwachidule, matenda a Sandhoff ndi matenda osowa kwambiri omwe amawononga maselo amitsempha muubongo ndi msana . Nthawi zambiri amawonekera ali aang'ono. Izi zikutanthauza kuti, mwana amayamba kusonyeza zizindikiro mkati mwa miyezi ingapo atabadwa. Komabe, nthawi zambiri matendawa amatha kuwonekera ali mwana kapena wamkulu.

Kunena zoona, ichi ndi 'vuto losungira lysosomal '. Tsopano mwina mukudabwa kuti ma lysosome amenewa ndi otani. Tangoganizani kuti selo lililonse m'thupi lathu lili ndi 'malo osungira zinyalala' ang'onoang'ono mkati mwake. Timatcha awa kuti 'ma lysosome' . M'kati mwa ma lysosome amenewa muli mitundu yambiri ya ma enzyme. Ntchito ya ma enzyme amenewa ndi kuswa, kugaya, ndikuyeretsa mitundu yosiyanasiyana ya mamolekyu omwe amalowa mu selo.

Anthu omwe ali ndi matenda a Sandhoff sapanga enzyme yapadera yokwanira yotchedwa beta-hexosaminidase . Popanda enzyme iyi, mitundu ina ya mafuta, yotchedwa lipids , imayamba kusonkhana mkati mwa maselo. Zili ngati zinyalala zomwe sizingachotsedwe. Mafuta awa akamasonkhana kwambiri, amawononga ubongo ndi ziwalo zina za thupi. Mwatsoka, vutoli nthawi zambiri limabweretsa imfa ali aang'ono.

Matenda a Sandhoff amadziwikanso kuti ndi mtundu woopsa wa matenda a Tay-Sachs, matenda ena a lysosomal.

Kodi matenda a Sandhoff ndi osowa bwanji?

Uwu ndi matenda osowa kwambiri . Akuti munthu m'modzi yekha pa anthu miliyoni imodzi ndi amene amadwala matendawa. Choncho sizodabwitsa kuti sindinamvepo za matendawa.

Ndani ali pachiwopsezo chachikulu chotenga matendawa?

Popeza matenda a Sandhoff ndi matenda obadwa nawo, ngati wina m'banja mwanu ali ndi matendawa, muli pachiwopsezo chachikulu chotenga matendawa . Komanso, matendawa amapezeka kwambiri m'mitundu ina. Izi zikuphatikizapo:

• Ayuda a ku Ashkenazi
• Anthu a ku Creole kumpoto kwa Argentina
• Anthu aku Eastern Europe
• Anthu aku Lebanon
• Amwenye a ku Metis ku Saskatchewan, Canada

Izi zikutanthauza kuti ngati mzera wanu uli ndi mgwirizano uliwonse ndi magulu awa, pakhoza kukhala chiopsezo chochepa. Koma kumbukirani, izi sizichitika kawirikawiri.

Kodi chifukwa chake ndi chiyani?

Kodi n’chiyani chimayambitsa matenda a Sandhoff?Zimayambitsidwa ndi kusintha kwa majini otchedwa HEXB. Jini ndi buku laling'ono chabe lomwe limasunga chidziwitso m'thupi lathu. Pakakhala cholakwika, kapena kusintha, mu jini iyi ya HEXB, thupi silingathe kupanga enzyme yokwanira ya beta-hexosaminidase. Popanda enzyme iyi, thupi silingathe kuswa mitundu ina ya mafuta. Kenako mafuta amenewo amasonkhana mpaka kufika pamlingo wa poizoni, makamaka m'maselo a mitsempha ya ubongo ndi msana.

Kodi zizindikiro za matendawa ndi ziti?

Matenda a Sandhoff omwe amapezeka kwambiri amapezeka mwa makanda . Amaoneka athanzi akabadwa, koma amayamba kusonyeza zizindikiro pakati pa miyezi itatu ndi isanu ndi umodzi . Zizindikirozi zikuphatikizapo:

• Kusakula bwino kwa mafupa : Matenda omwe mafupa sakukula bwino.
• Kusuntha kwachilendo : Mukasuntha miyendo yanu kapena kuyesa kuyenda, zinthu zimachitika mwanjira yachilendo komanso yosasinthasintha.
• Madontho a "Cherry-red" m'maso : Mukayang'ana mkati mwa diso, mutha kuwona dontho lofiira lomwe limafanana ndi mtundu wa chitumbuwa. Ichi ndi chizindikiro cha matendawa.
• Kukula kwa mutu (macrocephaly) kapena kukula kwa ziwalo zamkati (organomegaly) : Ziwalo, makamaka chiwindi ndi ndulu, zimatha kukula kuposa momwe zimakhalira.
• Yankho lodzidzimutsa : Mwana amayamba kunjenjemera ngakhale phokoso laling'ono kwambiri.
• Matenda opatsirana pafupipafupi : Izi zikutanthauza kuti matenda okhudzana ndi mapapo amapezeka pafupipafupi.
• Kuchedwa kukula kwa luso la kuyenda kwa thupi : Zinthu monga kukwawa, kukhala, ndi kugubuduzika zimachitika mochedwa kuposa makanda ena.
• Kufooka kwa minofu, kuvutika kulamulira minofu (ataxia) kapena kugwedezeka kwa minofu (myoclonus) : Kumva kufooka, kutayika bwino, komanso nthawi zina kugwedezeka kwa minofu.

Matenda a Sandhoff akakula kwambiri, makanda nthawi zambiri amakumana ndi izi:

• Kutaya kumva
• Kulephera kwa nzeru
• Kufa ziwalo
• Khunyu ( khunyu )
• Kutaya masomphenya
• Mwatsoka, imfa ali mwana .

Kawirikawiri, anthu ena amatha kudwala matenda a Sandhoff ali ana kapena akuluakulu. Zizindikiro zake zimakhala zofanana, koma nthawi zambiri sizimakhala zoopsa ngati za makanda.

Kodi matendawa amapezeka bwanji?

Madokotala amazindikira matenda a Sandhoff poganizira zinthu zotsatirazi:

• Kuwunikanso zizindikiro ndi nthawi yomwe zinayamba : Muyenera kukambirana mwatsatanetsatane ndi dokotala nthawi yoyamba yomwe munaona kusintha kwa mwana wanu komanso zizindikiro zake.
• Kukambirana mbiri ya banja ndi fuko : Ndikofunikira kudziwa ngati pali aliyense m'banja mwanu amene ali ndi matendawa komanso ngati makolo anu ndi ogwirizana ndi mafuko omwe atchulidwa pamwambapa.
• Kuwunika thupi: Dokotala amawunika mwanayo.
• Kuyezetsa magazi : Kuyezetsa magazi kumachitika kuti aone ngati enzyme ya beta-hexosaminidase ilibe kapena palibe konse.
• Kuyesa majini : Kuyesa majini kumachitika kuti atsimikizire ngati kusintha kwa majini a HEXB kulipo.

Kodi mankhwala ake ndi otani?

Mwatsoka, palibe mankhwala a matenda a Sandhoff . Mankhwala omwe alipo pano akuyang'ana kwambiri kuchepetsa zizindikiro ndikuthandiza odwala kukhala omasuka momwe angathere. Izi zingaphatikizepo:

• Mankhwala oletsa kugwidwa ndi khunyu amaletsa khunyu.
• Kupereka zakudya zabwino .
• Kusunga madzi okwanira m'thupi.
• Kuthandiza kuti njira yopumira mpweya ikhale yotseguka (kuchepetsa mavuto opuma).

Ngakhale kuti palibe mankhwala ochiritsira matendawa, madokotala ndi ofufuza nthawi zonse amafunafuna njira zatsopano zochiritsira matendawa. Chimenecho ndi chiyembekezo chabwino kwambiri.

Pali njira zingapo zochiritsira zomwe zikufufuzidwa pakali pano ndipo zingathandize mtsogolo:

• Kusamutsa mafupa
• Chithandizo cha majini : Izi zimayesa kukonza jini yolakwika.
• Chithandizo chochepetsa matenda : Izi zimaphatikizapo kusintha mamolekyu omwe amakhudzidwa ndi matendawa ndikuyesera kuletsa kupitirira kwa matendawa.
• Chithandizo cha maselo oyambira

Ndikofunikira kwambiri kuti mabanja omwe akhudzidwa ndi matenda a Sandhoff alankhule ndi akatswiri a majini kapena alangizi a majini . Angathandize kusankha ngati wina aliyense m'banjamo ayenera kuyezedwa kusintha kwa majini kumeneku.

Kodi tsogolo la anthu omwe ali ndi matendawa ndi lotani?

Kunena zoona, tsogolo la anthu omwe ali ndi matenda a Sandhoff silili lodalirika kwenikweni, ndipo nthawi yoti munthu akhale ndi moyo ndi yochepa . Makanda akadwala matendawa, matenda awo amakula mofulumira ndipo amafa akafika zaka 3 kapena 4. Nthawi zambiri, izi zimachitika chifukwa cha mavuto ochokera ku matenda opumira. Ndikudziwa kuti izi n'zomvetsa chisoni kumva.

Kodi tingapewe matendawa?

Mwatsoka, palibe njira yopewera matenda a Sandhoff chifukwa ndi a majini. Komabe, akatswiri a majini ndi alangizi a majini angakuthandizeni kudziwa ngati wina m'banja mwanu ali pachiwopsezo chotenga matendawa. Chidziwitso chimenecho chingakhale chothandiza, mwachitsanzo, posankha ngati mungakhale ndi ana.

Ngati mwana wanga ali ndi matenda a Sandhoff, ndifunse madokotala chiyani?

Ngati mwana wanu wapezeka ndi matenda a Sandhoff, mutha kufunsa madokotala mafunso monga:

• Kodi ndi zilema zamtundu wanji zomwe tingayembekezere?
• Moyo wa mwana wathuZidzakhala zingati?
• Kodi ndi akatswiri amtundu wanji omwe tiyenera kuwaona? Kodi tiyenera kuwaona kangati?
• Kodi ndingamuthandize bwanji mwana wanga kukhala womasuka ?
• Kodi abale ena ayeneranso kuyesedwa majini ?

Kodi njira yabwino kwambiri yothetsera matenda a Sandhoff ndi iti?

Pali zinthu zingapo zomwe zingakuthandizeni inu ndi banja lanu kuthana ndi vuto ili:

• Uphungu : Uphungu udzakuthandizani kukhala olimba m'maganizo ndi kuthana ndi chisonichi.
• Kulumikizana ndi mabungwe omwe amathandiza odwala ndi kafukufuku.
• Magulu othandizira : Magulu awa ndi ofunika kwambiri polankhula ndi makolo ena omwe akukumana ndi vuto lomweli komanso kugawana zomwe akukumana nazo.

Matenda a Sandhoff ndi kusintha kwa majini komwe kumachitika kawirikawiri komwe kumayambitsa mafuta kusonkhanitsa mpaka kufika pamlingo woopsa m'maselo amitsempha muubongo ndi msana. Ana omwe ali ndi matendawa amakhala ndi zizindikiro zoopsa ndipo amafa ali aang'ono. Kafukufuku akupitilizabe kuti amvetsetse bwino matenda a Sandhoff ndi mankhwala omwe angawachiritse.

Uthenga Womaliza Wopita Nawo Kunyumba

Ndikukhulupirira kuti mwamvetsetsa bwino zomwe takambirana zokhudza matenda a Sandhoff. Zinthu zofunika kwambiri kukumbukira ndi izi:

• Uwu ndi matenda osowa kwambiri a majini .
• Izi zimayambitsa kuwonongeka kwa maselo amitsempha , makamaka kuyambira ali akhanda.
• Chifukwa chachikulu ndi kusowa kwa enzyme beta-hexosaminidase .
• Palibe mankhwala ochiritsira matenda , koma pali mankhwala oletsa zizindikiro ndi kupereka chitonthozo.
• Kafukufuku akuchitika omwe angatipatse chiyembekezo cha mtsogolo.
• Ngati wina m'banja mwanu ali ndi chiopsezo chotere, ndikofunikira kwambiri kufunafuna upangiri wa majini .
• Mu mkhalidwe ngati uwu, kupeza chithandizo chamaganizo ndi chithandizo kudzakhala mphamvu yaikulu kwa inu ndi banja lanu.

Ngati izi zinali zothandiza kwa inu, ndi zabwino kwambiri. Ngati muli ndi mafunso ena okhudza izi, musazengereze kulankhula ndi dokotala.

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