Chii chinonzi chirwere cheTay-Sachs? Totaura nezvazvo here?

Paunofunga nezvehutano hwemwana wako, dzimwe nguva zvinhu zvakawanda zvinouya mupfungwa dzako, handiti? Kune zvimwe zvirwere zvinoita kuti utye uye uzvidye mwoyo paunonzwa nezvazvo. Chimwe chezvirwere zvakadaro chakaoma zvishoma, asi zvakakosha kuti isu tese tizive nezvechirwere cheTay-Sachs . Ichi chirwere chemajini. Nhasi, tichataura nezvazvo zviri nyore, nenzira yaunogona kunzwisisa zvakanaka.

Chii chaizvo chinonzi chirwere cheTay-Sachs?

Zvichitaurwa zviri nyore, chirwere cheTay-Sachs chirwere chinokonzerwa nemajini . Chinokonzera kuti masero etsinga (neurons) muuropi hwemwana wako nemusana akuvare uye zvishoma nezvishoma afe. ​​Fungidzira kuti matambudziko api angamuka kana masero aya etsinga, anotakura mashoko akatenderedza miviri yedu, asingashande nemazvo. Zviratidzo zvechirwere ichi, zvakaita sekunonoka kukura uye kutadza kuona nekunzwa, zvinowanzotanga mwana ava nemwedzi mitanhatu. Chinhu chinosuwisa ndechekuti, chirwere chinoenderera mberi. Izvi zvinoreva kuti zviratidzo zvinowedzera kuipa nekufamba kwenguva. Zvinosuwisa kuti, vana vane chirwere ichi vanofa vachiri vadiki. Pari zvino hapana mushonga . Zvisinei, kune nzira dzakasiyana-siyana dzekurapa dzinogona kubatsira mwana wako kunzwa zviri nani uye kurarama zvakanaka.

Kune mhando dzechirwere cheTay-Sachs here?

Ehe, chirwere cheTay-Sachs chinogona kukamurwa kuita mhando nhatu huru. Izvi zvinorongwa zvichienderana nenguva iyo zviratidzo zvinotanga kuoneka: 1. Tay-Sachs dzevana vadiki: Urwu ndirwo rudzi rwakajairika . Vana vanotanga kuratidza zviratidzo pavanenge vaine mwedzi mitanhatu. 2. Tay-Sachs dzevana vadiki: Izvi hazviwanzoitiki . Vana vanogona kuratidza zviratidzo pakati pemakore mashanu nemakore ekuyaruka. 3. Tay-Sachs dzinotanga kunonoka: Urwu rudzi rusingawanzoitiki . Zviratidzo zvinogona kutanga pakupera kwekuyaruka kana kutanga kwekukura. Dzimwe nguva zviratidzo zvinogona kuonekwa mushure memakore makumi matatu. Rudzi urwu rungasakanganisa hupenyu. Chinhu chimwe chakakosha ndechekuti zvirwere izvi zvinotapuriranwa sei mumhuri. Semuenzaniso, kana mwana mumwe chete akawedzera rudzi rweTay-Sachs dzevana vadiki, vamwe vana mumhuri havasi panjodzi yekukura Tay-Sachs dzinotanga kunonoka.

Chirwere cheTay-Sachs chakajairika zvakadii?

Ongororo dzinoratidza kuti, paavhareji, munhu mumwe chete pavanhu mazana matatu anogona kunge aine chirwere cheTay-Sachs. Zvisinei, huwandu hwevana vanoberekwa nechirwere cheTay-Sachs hwakaderera zvikuru. Saka, chinoonekwa sechirwere chisingawanzoitiki . Kuziva, dzidzo, uye kuongororwa kwemajini zvakabatsira kuderedza kupararira kwechirwere ichi pakati pevanhu vari panjodzi.

Ndezvipi zviratidzo zvechirwere cheTay-Sachs?

Zviratidzo zvechirwere cheTay-Sachs zvinosiyana zvichienderana nezera remwana. Chirwere ichi chinokura sezvo mwana achikura. Chimwe chezviratidzo zvikuru zvinoonekwa muvana kutadza kuzadzisa matanho ekukura kana kukanganwa hunyanzvi hwavakadzidza uye hwavakashandisa.

Zviratidzo zveClassic Infantile Tay-Sachs

Zviratidzo zvinogona kuonekwa pakutanga (anenge mwedzi mitanhatu):

• Kushaya simba kwetsandanyama .
• Kuomerwa nekutendeudza mutsipa, kugara, kana kupfugama.
• Kuvhundutswa nyore nyore neruzha rukuru.

Sezvo chirwere ichi chichienderera mberi (gore risati rasvika), zviratidzo zvakaita seizvi zvinogonawo kuoneka:

• Kuzvimba kwemhasuru kusingatarisirwi, uko kunonzwa sekunge kuri kuzununguka - tinoti izvi zvikumbo zvemyoclonic.
• Kuva nepfungwa dzakapfava (pfari).
• Kuoma kwekumedza chikafu kunonziwo dysphagia.
• Kurasikirwa nekuona .
• Kurasikirwa nekunzwa.
• Vanachiremba vanoona chivara chitsvuku-tsvuku muziso panguva yekuongororwa.
• Zvirwere zvekufema zvinowanzoitika.

Mwana paanosvika makore maviri, chirwere chacho chinenge chanyanya kuipa zvekuti mwana anogona kusagona kupindura . Izvi zvinoreva kuti mashandiro mazhinji europi anorasikirwa. Mwana anowanzo kufa ari pakati pemakore maviri nemana. Chikonzero chikuru cherufu nekuda kwechirwere cheTay-Sachs achiri mudiki chirwere chemapapu chakadai sepneumonia .

Zviratidzo zveVechidiki Tay-Sachs

Mushure memakore mashanu, vana vanoonekwa vaine chirwere cheTay-Sachs muhudiki vanogona kuva nezviratidzo zvakaita se:

• Kushaya simba kwetsandanyama kana kutadza kudzora tsandanyama.
• Kubatwa nezvirwere kakawanda.
• Matambudziko ekutaura nemutauro (semuenzaniso, mashoko asinganyatsonzwisisike, kusakwanisa kutaura zvakajeka).
• Kukanganwa zvinhu zvawakadzidza kare.
• Kuchinja kwemaitiro nemafungiro (semuenzaniso, kungoerekana watsamwa, kusuruvara).
• Kusaona zvakanaka uye kunzwa zvisina kunaka.
• Kuva nepfungwa dzakapfava (pfari).

Dambudziko iri rinowanzo enderera mberi zvishoma nezvishoma kusvika pazera rekuyaruka, panguva iyo rinogona kukonzera rufu.

Zviratidzo zveTay-Sachs anononoka kutanga

Vanhu vakuru vanoonekwa vaine chirwere cheTay-Sachs panguva yekupera kwechirwere vanogona kuona zviratidzo zvakaita se:

• Kushaya simba kwetsandanyama uye kugwinha kwetsandanyama.
• Kutadza kugadzikana - kunonziwo ataxia - kana kuti kunetseka kufamba.
• Kuoma kutaura nekumedza .
• Kuvapo kwezvirwere zvepfungwa zvakaita se psychosis kana zvimwe zvirwere zvepfungwa .

Zvisinei, rudzi urwu rwekutanga kunonoka haruwanzo kanganisa zvakananga hupenyu hwemunhu.

Chii chinokonzera chirwere cheTay-Sachs?

Chikonzero chikuru chechirwere cheTay-Sachs kuchinja kwemajini (mutation) mujini reHEXA . Funga nezvazvo, jini reHEXA iri rakafanana nebhuku rinopa mirairo kumasero edu. Bhuku iri rine mirairo yekugadzira enzyme inonzi hexosaminidase A. Iyi enzyme yehexosaminidase A yakafanana nemushandi mumuviri wedu. Basa rayo nderekuputsa nekubvisa zvimwe zvinhu zvinokuvadza, zvine chepfu (kunyanya zvinhu zvine mafuta) zvinoungana mumuviri. Zvino, chii chinoitika kana enzyme iyi isina kugadzirwa nemazvo kana ikasashanda nemazvo nekuda kwekukanganisa mujini reHEXA? Chinhu ichocho chine mafuta chinokuvadza chinotanga kuungana mukati memasero, semurwi wemarara . Izvi zvinokonzera kukuvara kwemasero muuropi nemumusana, uye pakupedzisira masero iwayo anofa. Ndicho chikonzero chezviratidzo zvechirwere cheTay-Sachs.

Chirwere cheTay-Sachs chinogara nhaka sei? Zvinorevei kuti autosomal recessive?

Chirwere cheTay-Sachs chirwere chinokonzeresa autosomal recessive . Izvi zvinoreva kuti kuti mwana ave nechirwere cheTay-Sachs, mwana anofanira kugara nhaka makopi maviri egene reHEXA asina kunaka. Tose tine makopi maviri egene rega rega, rimwe kubva kuna amai vedu nerimwe kubva kuna baba vedu. Chirwere cheTay-Sachs chinongoitika chete kana vabereki vese vari vatakuri vegene reHEXA risina kunaka uye vachipa majini ese ari maviri asina kunaka kumwana wavo. Zvadaro makopi ese egene reHEXA emwana haashande nemazvo. Dzimwe nguva vanachiremba vanodanawo chirwere ichi kuti hexosaminidase A deficiency, kana kuti hex A deficiency.

Ndiani anotakura Tay-Sachs?

Munhu anotakurwa nehutachiona munhu ane kopi imwe chete yegene reHEXA inoshanda uye imwe kopi isina kunaka . Tose tinogara nhaka makopi maviri egene (rimwe kubva muzai raamai vedu, rimwe kubva kumbeu yababa vedu). Vanhu vanotakurwa nehutachiona havaratidzi chirwere kana kuratidza zviratidzo.Nekuti miviri yavo inogona kushandisa jini rimwe chete rinoita basa kugadzira enzyme inodiwa. Zvino fungidzira kuti vanhu vaviri vane gene iri (vatakuri vaviri) vanoungana kuti vave nemwana. Ipapo mikana yekuti mwana iyeye ave nechirwere ichi ndeiyi inotevera:

• Pane mukana we25% (mumwe chete pavana) wekuti mwana haazogari nhaka yemajini eHEXA asina kunaka. Izvi zvinoreva kuti mwana haazove nechirwere cheTay-Sachs kana kutakurwa nacho.
• Pane mukana we50% (mumwe chete pavaviri) wekuti mwana achagara nhaka jini rakakanganisika kubva kumubereki mumwe chete. Mwana wacho anozove mutakuri, asi haazove nechirwere cheTay-Sachs. Semutakuri, anogona kupa jini kuvana vake mune ramangwana.
• Pane mukana we25% (mumwe pavana) wekuti mwana achagara nhaka majini asina kunaka kubva kuvabereki vese. Ndipo panotanga mwana chirwere cheTay-Sachs.

Zvakafanana nekukanda mari. Zvinhu zvitatu izvi zvine chekuita nepamuviri pese zvakaenzana.

Ndezvipi zvinhu zvinokonzera chirwere cheTay-Sachs?

Mwana ari panjodzi yakakura yekubatwa nechirwere cheTay-Sachs chete kana vabereki vake vese vari ivo vanotakura gene mutation . Chero ani zvake anogona kunge ari mutakuri we gene mutation iyi. Zvisinei, chirwere ichi chinowanzoitika mune mamwe mapoka emadzinza. Semuenzaniso, vanhu vanobva kuFrance-Canada, Eastern Europe, kana Ashkenazi Jewish vane mukana mukuru wekutakura gene mutation iyi. Anenge mumwe chete pavanhu makumi matatu anogona kunge ari mutakuri.

Ndezvipi zvinetso zvechirwere cheTay-Sachs?

Vana vane chirwere cheTay-Sachs vanofa vachiri vadiki . Sezvo chirwere ichi chichienderera mberi, makore ekurarama kwemwana anoderera.

Chirwere cheTay-Sachs chinoonekwa sei?

Chiremba anoongorora chirwere cheTay-Sachs nekuongororwa ropa . Pakuongororwa uku, chiremba anotora ropa diki kubva pachitsitsinho chemwana wako kana mutsinga iri muruoko. Ropa rinozoongororwa kuti rione huwandu hweenzyme inonzi hexosaminidase A. Mumwana ane chirwere cheTay-Sachs achiri mudiki, puroteni iyi inenge isipo zvachose kana kuti yakaderera zvikuru. Vanhu vane mamwe marudzi echirwere vanewo huwandu hwakaderera hweenzyme iyi. Pamusoro pezvo, chiremba anogona kuongorora maziso emwana wako kuti aone kana paine tsvuku tsvuku mumaziso ake.

Chirwere cheTay-Sachs chinogona kuonekwa panguva yekuzvitakura here?

Ehe, kune bvunzo mbiri dzakakosha dzinogona kuona chirwere cheTay-Sachs panguva yekuzvitakura:

• Kuongororwa kweAmniocentesis: Mukuongorora uku, chiremba anotora sampuli diki yemvura yeamniotic yakakomberedza mwana muchibereko chako oiongorora.
• Kuongororwa kweChorionic Villus Sampling (CVS): Mukuedzwa uku, chiremba anotora chidimbu chidiki chenyama kubva muplacenta ochiongorora.

Miedzo iyi yese iri miviri inotarisa enzyme inonzi hexosaminidase A. Kana huwandu hweenzyme iyi mumiedzo yacho hwakaderera pane zvakajairwa, chiremba achaona kuti mwana ari mudumbu ane chirwere cheTay-Sachs. Pamusoro pezvo, mienzaniso iyi inogona kushandiswa kuita bvunzo yemajini kuti ione kana paine shanduko mujeni reHEXA inokonzera chirwere ichi.

Chirwere cheTay-Sachs chinorapwa sei?

Kurapa chirwere cheTay-Sachs kunonyanya kubatsira mwana, izvo zvinobatsira kudzora zviratidzo zvemwana . Semuenzaniso, chiremba anogona kunyora mishonga yekudzora kutanga kwepfari. Zvakakoshawo kuve nechokwadi chekuti mwana anodya zvakanaka uye ane mvura yakakwana mumuviri . Chikwata chekurapa chichaita kuti mwana anzwe akasununguka uye asanetseke sezvinobvira. Pamusoro pezvo, vanachiremba vachakubatsira iwe nemhuri yako kugadzirira kurasikirwa nemwana wako. Vanogona kukutumira kune mupi wezano wehutano hwepfungwa kana boka rekutsigira vanofirwa .

Kurapa chirwere cheTay-Sachs chinotanga kunonoka

Vakuru vane chirwere cheTay-Sachs chinotanga kunonoka vane nzira dzinotevera dzekurapa zviratidzo zvavo:

• Kushandisa zvishandiso zvekubatsira kana zvinhu zvakaita sewiricheya kuti zvikubatsire kushanda wega uye kufamba-famba.
• Kutora mushonga wezvirwere zvepfungwa kana tsandanyama.
• Kurapa kwekutaura.

Pane mushonga wakakwana wechirwere cheTay-Sachs here?

Kwete, pari zvino hapana mushonga wechirwere cheTay-Sachs. Ichi ndicho chokwadi chinosuwisa zvikuru.

Chirwere cheTay-Sachs chinogona kudzivirirwa here?

Parizvino hapana nzira inozivikanwa yekudzivirira chirwere cheTay-Sachs. Zvisinei, kana uchida kuziva njodzi yako yekuva nemwana ane chirwere chemajini chakaita seTay-Sachs, taura nachiremba wako nezvemazano ekuona mwana asati aberekwa uye kuongororwa kwemajini usati waronga kuva nemwana . Chiremba wako anogona kukubatsira kuronga pamuviri mune ramangwana.

Ndeipi tarisiro yechirwere cheTay-Sachs?

Chirwere cheTay-Sachs chinouraya vacheche nevana vadiki. Chikwata chevanachiremba chemwana wenyu chichataura nemi nezverutsigiro nerubatsiro rwekufa . Vachapawo mazano kuvabereki, vanochengeta vana, uye nhengo dzemhuri pamusoro pekuti vangagadzirisa sei kufirwa nemwana. Mhuri dzakawanda dzinowana nyaradzo huru pakutaura nenyanzvi yezvehutano hwepfungwa kana kupinda muboka rekutsigira vanochema.

Sei chirwere cheTay-Sachs chichiuraya?

Chirwere cheTay-Sachs chinouraya nekuti masero ari muuropi hwemwana wako nemusana wake anokuvara uye anofa.Masero anoita basa rakakosha zvikuru mukuchengetedza miviri yedu ichishanda zvakanaka. Muchirwere cheTay-Sachs, kushanduka kwemajini kunoita kuti masero awane mirairo isiriyo. Nekuda kweizvozvo, masero haagone kuita basa rawo nemazvo. Pakupedzisira, masero aya, ayo akakosha muhupenyu hwemwana, anoparadzwa. Kazhinji, vana vane chirwere cheTay-Sachs vanofa nehutachiona hwemapapu, hunonzi pneumonia . Nekuti masero emwana haasi kushanda nemazvo, masoja avo ekudzivirira muviri haagone kurwisa hutachiona uye kuchengetedza mwana aine hutano.

Munhu ane chirwere cheTay-Sachs anotarisirwa kurarama kwenguva yakareba sei?

Vana vane chirwere cheTay-Sachs vachiri vacheche vanowanzofa vasati vasvitsa makore mashanu. Vana vakuru nevachiri kuyaruka vane chirwere cheTay-Sachs vari vadiki vanogona kurarama kusvika vakura. Chirwere cheTay-Sachs chinotanga kunonoka hachikanganisi zvakananga hupenyu hwemunhu mukuru.

Chirwere cheTay-Sachs chinogona kurapwa here?

Kwete. Vana havagone kurapwa chirwere cheTay-Sachs. Kurapa kunongoitirwa kuti mwana anzwe akasununguka uye kuderedza kufambira mberi kwechirwere.

Ndingatarisira sei mwana wangu ane chirwere cheTay-Sachs?

Nzira yakanakisisa yekutarisira mwana wako ndeyekutarisira zviratidzo zvake uye kumuita kuti anzwe akasununguka sezvinobvira . Chikwata chako chezvekurapa chichakupa gwara nerubatsiro panyaya idzi:

• Kufema: Vana vazhinji vane chirwere cheTay-Sachs vanonetseka nekufema. Vanogona kuwana hutachiona hwemapapu nekuti vane mate akawanda uye vanonetseka nekumedza. Mishonga yakasiyana-siyana, zvishandiso, kana kuisa mwana panzvimbo yake zvinogona kuvabatsira kufema zviri nyore.
• Kudya: Nyanzvi yekutaura inogona kudzidzisa mwana wako nzira dzekumubatsira kudya nekunwa. Sezvo kumedza kuchiwedzera kuoma, mwana wako angangoda chubhu yekudyisa .
• Kubatwa nepfari: Chiremba wetsinga anogona kukubatsira kuwana nzira yakanakisisa yekurapa pfari yako.
• Kukurudzira kunzwa: Vana vane Tay-Sachs vane matambudziko ekunzwa (matambudziko ekunzwa mashanu). Unogona kukurudzira kunzwa kwavo uchishandisa zvinhu zvakaita semimhanzi, zvinhu zvinofambiswa, hwema hunonyaradza, uye machira akapfava.

Ndinofanira kuona chiremba rini?

Taura nachiremba wako mune izvi zviitiko:

• Kana uri kuronga kubata pamuviri: Kana uri kufunga nezvekubata pamuviri uye uine njodzi huru yekutapurira chirwere cheTay-Sachs kumwana wako, taura nachiremba wako. Njodzi yakawedzerwa inogona kunge iri kana iwe kana mumwe wako muine nhoroondo yemhuri yechirwere cheTay-Sachs, kana kana mumwe wenyu kana mose muri mutakuri wechirwere cheTay-Sachs. Kuongororwa kwemajini kunowanikwa kune avo vari panjodzi huru yekuve nemwana ane chirwere cheTay-Sachs.Zvinogona kuitwa.
• Kana uine zvinokunetsa panguva yekuzvitakura: Kana uine pamuviri uye uine zvinokunetsa nezvehutano hwemwana wako asati aberekwa, ona chiremba wako.
• Kana mwana wako achiratidza zviratidzo: Kana uchifunga kuti mwana wako haasi kuzadzisa matanho ekukura panguva kana kuti ari kuratidza zviratidzo zveTay-Sachs, taura nachiremba wake.

Mibvunzo ipi yandinofanira kubvunza chiremba wangu?

Kana uine mukana mukuru wekuva nemwana ane chirwere cheTay-Sachs, bvunza chiremba wako mibvunzo iyi:

• Ndiri kufarira mazano ekubatsira vanhu vasati vabata pamuviri , ndoita sei?
• Ndingaderedza sei njodzi yangu yekuva nemwana ane chirwere cheTay-Sachs?
• Chii chinoitika kana ini nemumwe wangu tiri vaviri vanotakura chirwere ichi ?
• Munokurudzira mwana wangu kurapwa kupi?
• Ndingabata sei mwana wangu zvakanaka?
• Munogona kukurudzira mazano ekubatsira vanhu vanochema kana boka rekutsigira vanofirwa here?

Chirwere cheSandhoff chakafanana here nechirwere cheTay-Sachs?

Ehe, zviratidzo uye kufambira mberi kwechirwere cheSandhoff zvakafanana nechirwere cheTay-Sachs. Ichi chirwere chinogara nhaka. Chirwere cheTay-Sachs chine chekuita neenzyme inonzi hexosaminidase A. Chirwere cheSandhoff chine chekuita nehexosaminidase A neimwe enzyme inonzi hexosaminidase B.

Pakupedzisira, yeuka izvi.

Chirwere cheTay-Sachs chinhu chakaoma uye chinoshungurudza moyo. Zvauri kunzwa zvinonzwisisika. Munguva ino yakaoma, hezvino zvimwe zvinhu zvinogona kukubatsira:

• Usatambura uri wega. Izvi zvakaoma kubata nazvo uri wega. Kumbira rubatsiro kubva kuna vanachiremba, vanamukoti, mhuri yako, neshamwari dziri kurapa mwana wako. Kana uchinzwa kuremerwa, usatya kutsvaga mupi wezano kana kubatana neboka rekutsigirana rine vabereki vane zvakaitika zvakafanana nezvako.
• Mwana wako achachengetwa zvakanaka. Kunyangwe kana chirwere chikawedzera, vanachiremba vachaita zvese zvavanogona kuti mwana wako agare zvakanaka uye asarwadziwe. Unogona kuvimba nazvo.

Izvi zvakakoshawo zvikuru: Kana uri kufunga nezvekuva nemwana zvakare, tanga waongororwa majini usati wava nemwana . Wana mazano nezvazvo. Ipapo unogona kuziva zvese uye kuita sarudzo yakanakisisa semhuri.

Ndinovimba ruzivo urwu rwuchakubatsira. Kana uchida rumwe ruzivo, usatya kubvunza chiremba wako.