Kodi mwana wanu ali ndi zizindikiro izi? Tiyeni tikambirane za Ataxia-Telangiectasia (AT)!

Kodi mwana wanu amapunthwa pafupipafupi kuposa ana ena akamayenda, kapena akuoneka kuti akuvutika kukhalabe ndi thanzi labwino? Kodi nthawi zina amakhala ndi ukonde wa kangaude wofiira pa maso ake oyera kapena pa masaya ake? Izi ndi zinthu zazing'ono zomwe nthawi zina timazinyalanyaza, koma zitha kukhala zizindikiro zoyambirira za matenda osowa a majini otchedwa `Ataxia-Telangiectasia (AT). Chifukwa chake, ngakhale kuti nkhaniyi ndi yovuta pang'ono, tiyeni tikambirane za nkhaniyi m'njira yosavuta yomwe mungamvetse.

Kodi `Ataxia-Telangiectasia (AT)` ndi chiyani kwenikweni?

Mwachidule, `Ataxia-Telangiectasia (AT),` yomwe imadziwikanso ndi ena kuti `Louis-Bar Syndrome,` ndi matenda osowa kwambiri omwe amakhudza kwambiri mitsempha yathu, maukonde a mitsempha yomwe imanyamula mauthenga ochokera ku ubongo, msana, ndi thupi lonse, komanso chitetezo cha mthupi, chomwe chimateteza thupi lathu ku matenda.

Uwu ndi mkhalidwe wa `(neurodegenerative)`. Izi zikutanthauza kuti, pakapita nthawi, maselo omwe ali mu dongosolo lathu la mitsempha amafooka pang'onopang'ono, ndipo ntchito yawo imachepa. Taganizirani izi ngati makina omwe kale ankagwira ntchito bwino amakalamba pang'onopang'ono, ndipo ziwalozo zimawonongeka ndikusiya kugwira ntchito. Maselo a mitsempha awa akafooka, vuto lotchedwa `(ataxia)` limachitika, momwe thupi limataya mphamvu ali aang'ono ndipo mayendedwe amakhala osakhazikika. Ichi ndichifukwa chake "ataxia" amatchedwa choncho.

Chizindikiro china chachikulu ndi telangiectasia. Izi zimachitika pamene mitsempha yamagazi yaying'ono yofiira, yofanana ndi ulusi imawonekera pa maso oyera, ndipo nthawi zina pamasaya ndi m'makutu. Izi nthawi zambiri sizipweteka, koma ndi chizindikiro cha matendawa.

Ndani angadwale vutoli?

`Ataxia-Telangiectasia (AT)` imayamba chifukwa cha kusintha kwa majini, kutanthauza `kusintha kwa majini` . Aliyense angalandire izi. Koma mukudziwa bwanji? Matendawa amapezeka pokhapokha ngati mwana walandira kopi yosinthika ya jini iyi ya `ATM` kuchokera kwa mayi ndi bambo. Mu zamankhwala, timatcha cholowa ichi `(autosomal recessive)`.

Tangoganizani kuti makolo onse awiri ali ndi kopi imodzi yokha ya jini yosinthika iyi. Kenako sadzawonetsa zizindikiro, chifukwa makope awiri a jini yosinthika amafunika kuti matendawa apitirire. Koma adzakhala "onyamula" jini iyi. Chifukwa chake, mwana wochokera kwa makolo awiri omwe ali ndi kachilombo ali ndi mwayi wolandira makope onse awiri a jini yosinthika iyi. Ngati zimenezo zitachitika, mwanayo adzakhala ndi vuto la `AT`. Malinga ndi ziwerengero ku United States, pafupifupi 1% ya anthu m'dzikolo ndi omwe ali ndi kachilombo ka jini ya `ATM` yosinthika iyi.

Kodi matenda a `Ataxia-Telangiectasia (AT)` ndi ofala bwanji?

Uwu ndi matenda osowa kwambiri . Padziko lonse lapansi, akuti pafupifupi munthu m'modzi pa anthu 40,000 mpaka 100,000 ali ndi matendawa. Izi zikutanthauza kuti matendawa ndi osowa kwambiri ku Sri Lanka.

Kodi matendawa amakhudza bwanji thupi la mwana?

Ataxia-Telangiectasia (AT) ndi matenda omwe amakula pang'onopang'ono pakapita nthawi.Izi zikutanthauza kuti zizindikiro zimawonjezeka pakapita nthawi. Mwana yemwe ali ndi `AT` nthawi zambiri amayamba kusonyeza zizindikiro ali ndi zaka 5.

Zizindikiro zoyamba kuwoneka ndi mavuto oyenda.

• Ndikamayenda , ndimamva ngati miyendo yanga ikugwedezeka ndipo ndimataya mphamvu .
• Miyendo ikugwedezeka mosadziwika bwino.
• Minofu imangogwedezeka.
• Ndikamalankhula , mawu anga amasokonekera, ndipo zimandivuta kulankhula .

Pamene mwana wanu akukula ndikulowa muunyamata, angafunike thandizo lothandizira kuyenda, monga njinga ya olumala, kuti azitha kuyenda. Ndikumvetsa kuti izi zingakhale zovuta kwa makolo, koma ndikofunikira kudziwa za vutoli.

Kodi zizindikiro za `Ataxia-Telangiectasia (AT)` ndi ziti?

Monga tafotokozera kale, pali zizindikiro ziwiri zazikulu za matendawa:

1. Kuvuta kulumikiza mayendedwe (ataxia) : Kuvuta kuyenda, kutayika bwino, ndi zina zotero.

2. Mitsempha yaying'ono yofiira yamagazi yomwe imawonekera m'maso ndi pakhungu (telangiectasia) : Izi nthawi zambiri zimawoneka m'maso oyera, masaya, ndi makutu.

Kuphatikiza pa izi, zizindikiro zina zambiri zokhudzana ndi mayendedwe zimatha kuwoneka mu mkhalidwe wa `AT`:

• Kuvutika kuyenda (ichi ndi chimodzi mwa zizindikiro zazikulu zomwe zimawonekera koyamba).
• Kulephera kusuntha maso kuchokera mbali imodzi kupita mbali ina ``oculomotor apraxia`` kapena mayendedwe osazolowereka a maso ``nystagmus``.
• Kusuntha kosafunikira, kosasunthika (chorea).
• Kugwedezeka kwa minofu (myoclonus).
• Kuchepa pang'onopang'ono kwa ntchito ya mitsempha (neuropathy).
• Kulankhula molakwika : Ana ambiri amavutika kutchula mawu molondola komanso kugwiritsa ntchito mawu ofunikira polankhula. Chifukwa cha zimenezi, mawu awo samveka ngati mawu "abwinobwino".
• Mavuto a kusasinthasintha .
• Kuchedwa kukula kapena kusagwira bwino ntchito kwa dongosolo la endocrine: Vutoli likhoza kukulirakulira chifukwa cha matenda opatsirana pafupipafupi komanso kusintha kwa mahomoni okulira.

Ataxia-Telangiectasia (AT) ndi matenda omwe amafooketsa chitetezo cha mthupi cha munthu . Kufooka kumeneku kumawonjezeka pakapita nthawi. Zizindikiro za chitetezo cha mthupi chofooka ndi izi:

• Kupezeka pafupipafupi kwa matenda osatha m'mapapo.
• Kumva kutopa nthawi zonse (kutopa).
• Kudwala mofulumira kuposa ena.
• Matenda opatsirana pafupipafupi komanso kuchira pang'onopang'ono kwa mabala.
• Kuwonjezeka kwa chiopsezo chotenga khansa monga `Leukemia` (khansa ya m'magazi) kapena `Lymphoma` (khansa ya lymph nodes).
• Kuchuluka kwa mphamvu ya kuwala kwa dzuwa (monga X-ray).

Chizindikiro china ndi kuwonjezeka kwa kuchuluka kwa puloteni yotchedwa `alpha-fetoprotein (AFP)` m'magazi. Chifukwa chenicheni cha kuwonjezeka kwa milingo ya `AFP` sichikudziwika.

Kodi n’chiyani chimayambitsa `Ataxia-Telangiectasia (AT)`?

Matendawa amayamba chifukwa cha kusintha kwa majini otchedwa ``ATM''.

Tsopano tiyeni tiwone majini ndi ma chromosome amenewa mosavuta. Tangoganizani kuti pali buku lalikulu lomwe lili ndi malangizo onse oti thupi lathu likule. Buku limenelo limatchedwa `DNA`. Mitu ya buku la `DNA` ili imatchedwa `majini`. `DNA` iyi imasungidwa mkati mwa zinthu zotchedwa `ma chromosome`. Nthawi zambiri, munthu amakhala ndi ma chromosome 46, omwe amakonzedwa m'magulu 23. Timalandira limodzi kuchokera kwa amayi athu ndi lina kuchokera kwa abambo athu kuti tipange ma chromosome awiriwa.

Maselo m'ziwalo zoberekera akapangidwa, maselowa amagawikana ndi kupanga makope awoawo. Nthawi zina, monga chosindikizira chomwe chimadzaza pepala, maselowa amatha kulakwitsa majini awo, otchedwa kusintha kwa majini. Makope ena a malangizo amapangidwa momwe alili, ndipo ena amapangidwa molakwika.

Monga tanenera kale, jini yosinthika iyi imabadwa mu njira ya ``autosomal recessive``. Izi zikutanthauza kuti mayi ndi bambo onse ndi omwe amanyamula jini yosinthika iyi ya ``ATM``, ndipo mwanayo adzadwala matendawa ngati onse awiri alandira jini yosinthikayi. Ngati ikuchokera kwa kholo limodzi lokha, mwanayo adzakhala wonyamula ndipo sadzawonetsa zizindikiro.

Jini ya `ATM` iyi ndi yofunika kwambiri. Chifukwa imapanga mapuloteni omwe amauza thupi momwe lingakonzere `DNA` yathu ikawonongeka. Mapuloteni a `ATM` ali ngati ofufuza. Ndiwo omwe amapeza maselo owonongeka ndi zidutswa za `DNA` ndikubweretsa `(ma enzyme)` ofunikira kuti azikonze. Ndi chifukwa cha njira yokonzanso `DNA` iyi kuti masamba a buku la malangizo a thupi lathu azungulire bwino.

Komanso, puloteni ya `ATM` imauza dongosolo lathu la mitsempha ndi chitetezo chamthupi kuti, "Muyenera kugwira ntchito bwino." Chifukwa chake, pakakhala kusintha kwa majini a `ATM`, ntchito ya puloteni ya `ATM` imachepa pakapita nthawi. Izi zikutanthauza kuti maselo amataya magawo a buku lawo lophunzitsira, ndipo sangagwire ntchito bwino. Ndicho chifukwa chachikulu cha zizindikiro za `Ataxia-Telangiectasia (AT)`. Mwamvetsa?

Kodi matenda a `Ataxia-Telangiectasia (AT)` amapezedwa bwanji?

Dokotala adzayamba ndi kufufuza zizindikiro zanu ndikuchita mayeso ojambulira zithunzi ndi mayeso a magazi kuti adziwe kusintha kwa majini komwe kukuyambitsa zizindikiro zanu. Dokotala wanu adzafufuzanso mwatsatanetsatane za thanzi la mwana wanu komanso mbiri yachipatala ya banja lake kuti adziwe matenda ake. Ngati mukuganiza kuti muli ndi AT, ndikofunikira kuonana ndi katswiri wa chitetezo chamthupi kuti akuwunikireni mokwanira.

Ndi mayeso ati omwe amagwiritsidwa ntchito pozindikira `Ataxia-Telangiectasia (AT)`?

Pali mayeso angapo omwe angathandize kuzindikira matendawa:

• Kuyezetsa majini : Uku ndi kuyezetsa magazi komwe kungakuthandizeni kudziwa kusintha kwa majini komwe kukuyambitsa zizindikiro zanu.
• Kujambula kwa Magnetic Resonance (MRI) : Kujambula kwa MRI kumatenga zithunzi za ubongo ndikuyang'ana zizindikiro za maselo amitsempha kapena maselo a cerebellum omwe akufooka (cerebellar atrophy). Ichi ndi chizindikiro chakuti ataxia ikuipiraipira.
• Karyotyping : Iyi ndi njira yoyezera magazi. Imafufuza ma chromosome kuti idziwe matenda a majini.
• Kuyezetsa magazi : Kuyezetsa magazi kumachitika kuti muwone ngati alpha-fetoprotein (AFP) ili ndi kuchuluka kwa magazi.

M'mayiko ambiri, kuyezetsa makanda obadwa kumene kumagwiritsidwa ntchito kuzindikira matenda a Ataxia-Telangiectasia (AT). Kupanda kutero, madokotala nthawi zambiri amazindikira matendawa ali ana aang'ono.

Kodi mankhwala a `Ataxia-Telangiectasia (AT)` ndi ati?

Chithandizo cha `Ataxia-Telangiectasia (AT)` ndi kungochepetsa zizindikiro . Palibe mankhwala a matendawa pakadali pano . Njira zochiritsira zimasiyana, zomwe zikutanthauza kuti zimatha kusiyana malinga ndi mwana. Zingaphatikizepo:

• Kuti muchepetse telangiectasia, yomwe ndi netiweki ya mitsempha yamagazi yomwe imawonekera pakhungu , pewani kukhala padzuwa kwambiri .
• Ngati khansa yayamba , chemotherapy imagwiritsidwa ntchito.
• Kuchiza thupi kuti kulimbitsa minofu.
• Kulandira jakisoni wa gammaglobulin pa matenda opatsirana popuma.
• Kulandira chithandizo cha immunoglobulin kuti chithandize chitetezo chamthupi chofooka.
• Kumwa mankhwala opha tizilombo toyambitsa matenda.
• Kumwa mankhwala monga Diazepam kuti muchepetse mavuto olankhula komanso kuyenda kwa minofu mosadzifunira.

Kodi ndingachepetse chiopsezo cha mwana wanga chotenga matenda a `Ataxia-Telangiectasia (AT)`?

Popeza `Ataxia-Telangiectasia (AT)` ndi zotsatira za kusintha kwa majini, palibe njira yopewera izi kuti zisachitike . Komabe, kawirikawiri, pali zinthu zomwe mungachite kuti muchepetse chiopsezo chanu chokhala ndi mwana wokhala ndi matenda a majini, monga kupewa kusuta fodya komanso kupewa kukhudzana ndi mankhwala. Ngati mukukonzekera kutenga pakati, ndi bwino kulankhula ndi dokotala wanu za upangiri wa majini kuti mumvetse chiopsezo chanu chokhala ndi mwana wokhala ndi matenda a majini monga `Ataxia-Telangiectasia (AT)`.

Kodi ndiyenera kuyembekezera chiyani ngati ndili ndi mwana wokhala ndi `AT`?

Ataxia-Telangiectasia (AT) ndi matenda omwe amakula kwambiri pakapita nthawi. Zizindikiro zochepa zomwe zimakhudza mayendedwe a mwana wanu zimayamba ali mwana, limodzi ndi maukonde a mitsempha yamagazi omwe amaoneka pakhungu. Mwana akamakula, maselo ake amataya mphamvu zawo zogwira ntchito motsatira malangizo. Izi zikutanthauza kuti zizindikiro za mwanayo zimakula kwambiri, ndipo nthawi zambiri angafunike kugwiritsa ntchito njinga ya olumala akafika pa msinkhu wachikulire.

Chizindikiro chimodzi cha vutoli ndi kufooka kwa chitetezo cha mthupi, kotero ngakhale matenda ang'onoang'ono amatha kukhudza kwambiri thanzi la mwana.

Chitetezo chamthupi chofooka chimawonjezeranso chiopsezo chotenga khansa monga khansa ya m'magazi kapena lymphoma. Komabe, pali mankhwala othandizira kuti chitetezo chamthupi chizigwira ntchito bwino, zomwe zingathandize mwana wanu kukhala wathanzi.

Chiyembekezo cha moyo wa munthu amene ali ndi matenda a AT chimasiyana malinga ndi kuopsa kwa zizindikiro. Komabe, anthu ambiri omwe ali ndi matendawa amakhala ndi moyo mpaka ali achinyamata (pafupifupi zaka 30, pafupifupi zaka 25). Kuchiza matenda opatsirana komanso kuyezetsa khansa msanga kungathandize kukulitsa nthawi ya moyo.

Kodi pali mankhwala a `Ataxia-Telangiectasia (AT)`?

Ayi, palibe mankhwala a `Ataxia-Telangiectasia (AT)` pakadali pano . Mankhwalawa cholinga chake ndi kuchepetsa zizindikiro, kupangitsa moyo kukhala wosavuta kwa munthu aliyense amene ali ndi matendawa, komanso kuthandiza kukulitsa moyo wawo.

Kodi ndingasamalire bwanji mwana wanga ndi `AT`?

Mukazindikira kuti mwana wanu ali ndi `Ataxia-Telangiectasia (AT),` zimakhala zovuta kumvetsetsa bwino momwe matendawa alili komanso kudziwa momwe mungathandizire mwana wanu. Dokotala wa mwana wanu adzakupatsani dongosolo la chithandizo logwirizana ndi zizindikiro zake, ndipo adzakhalapo kuti ayankhe mafunso aliwonse omwe mungakhale nawo.

Dokotala wanu angakulimbikitseninso kuti mukakumane ndi mlangizi wa majini . Alangizi a majini ndi akatswiri a majini. Angathandize banja lanu kuphunzira zambiri za Ataxia-Telangiectasia (AT) ndikuthandizira mwana wanu kukhala ndi moyo wabwino komanso wokhutiritsa. Angakuthandizeninso kuthana ndi nkhawa zomwe mukukumana nazo pamene mwana wanu akulandira matenda.

Kodi ndiyenera kupita kwa dokotala liti?

Popeza Ataxia-Telangiectasia (AT) imakhudza chitetezo cha mthupi, ngati mwana wanu akuwonetsa zizindikiro za matenda , muyenera kuwona dokotala nthawi yomweyo kuti akalandire chithandizo. Zizindikiro za matenda zingaphatikizepo:

• Kusintha kwa mtundu wa khungu m'dera lomwe lili ndi kachilomboka.
• Kuzizira.
• Chifuwa.
• Malungo.
• Kumva ululu kapena kuvulala mbali imodzi ya thupi kapena thupi lonse.
• Kutupa kwinakwake m'thupi.
• Kupuma movutikira.
• Kusanza kapena kutsegula m'mimba.

Ndi mafunso ati omwe ndiyenera kufunsa dokotala wanga?

• Kodi ndiyenera kupita kwa dokotala wa physiotherapy kuti ndimuthandize mwana wanga kukhala ndi mphamvu zolimbitsa minofu?
• Kodi pali zotsatirapo zilizonse kuchokera ku mankhwala omwe aperekedwa pa zizindikiro za mwana wanga?
• Ngati ndine wonyamula jini yosinthika, kodi ndili pachiwopsezo chokhala ndi mwana wokhala ndi `Ataxia-Telangiectasia (AT)`?

Kumvetsetsa momwe mwana wanu akudziwira matenda a `Ataxia-Telangiectasia (AT)` kungakhale kovuta kwambiri komanso kovuta kwa inu monga wosamalira. Komabe, dokotala wanu adzakupatsani dongosolo labwino la chithandizo lomwe likugwirizana ndi zizindikiro za mwana wanu. Chofunika kwambiri ndikupatsa mwana wanu chikondi ndi chithandizo chomwe amafunikira pa moyo wake wonse. Komanso, dziwani zizindikiro zatsopano zomwe zimawonekera, zithandizeni mwachangu, ndipo yesani kutalikitsa moyo wa mwana wanu momwe mungathere.

## Zinthu zofunika kukumbukira (Uthenga Wopita Nawo Kunyumba)

Ataxia-Telangiectasia (AT) ndi matenda osowa kwambiri omwe amakhudza kwambiri mwana ndi banja lake. Ndizachibadwa kukhala ndi mantha komanso nkhawa mukaphunzira za matendawa.

• Ndikofunikira kuzindikira zizindikiro zoyambirira : Funsani upangiri kwa dokotala ngati muwona kusintha kwa kayendedwe ka mwana wanu, kulimba mtima, kuvutika kulankhula, kapena mawanga ofiira achilendo pakhungu/maso.
• Ngakhale kuti palibe mankhwala a izi, zizindikiro zimatha kuthetsedwa : chithandizo choyenera ndi ntchito zothandizira zingathandize kukweza moyo wa mwana ndikuwonjezera moyo wake.
• Samalani chitetezo chanu chamthupi : Ana omwe ali ndi `AT` ali pachiwopsezo chachikulu chotenga matenda. Choncho dziwani zizindikiro za matenda ndipo funani chithandizo mwamsanga.
• Simuli nokha : Inu ndi mwana wanu mutha kupeza thandizo lomwe mukufuna kuchokera kwa madokotala, alangizi a majini, ndi magulu othandizira.
• Chikondi ndi chithandizo ndi zinthu zofunika kwambiri : Chikondi chanu, kuleza mtima kwanu, ndi chithandizo chanu ndi zinthu zofunika kwambiri kwa mwana wanu paulendowu.

Ndikukhulupirira kuti izi zakuthandizani kumvetsetsa bwino za vutoli. Ngati muli ndi mafunso ena, musazengereze kulankhula ndi dokotala.

Ataxia -telangiectasia, AT, matenda a Louis-Bar, matenda a majini, dongosolo lamanjenje, chitetezo chamthupi, matenda oyendayenda, matenda osowa, matenda a ana