Thea-Sachs chirwere. Kazhinji chirwere chinowanikwa

Chirwere cheThea-Sachs chirwere chinotora nhaka, chinoratidzwa nekukurumidza zvakanyanya kukura, kukanganisa kwehutachiona hwehutano hwehutano nehuropi hwemwana.

Chirwere chacho chakatanga kurondedzerwa neAngland ophthalmologist Warren Tey uye muropa reAmerica Bernard Sachs muzana remakore rechi19. Ava masayendisiti akakurumbira vakaita chipo chinokosha pakudzidza kwechirwere ichi. Teya-Sachs chirwere chirwere chisingawanzoitiki. Mamwe madzinza akabatanidzwa kune iyo . Kazhinji chirwere ichi chinokanganisa vagari veFrench Quebec neLouisana muCanada, uyewo vaJudha vanogara muEastern Europe. Nenzira yakawanda, kuwanda kwezviitiko munyika ndeye 1: 250,000.

Zvinokonzera chirwere chacho

Ita-Sachs chirwere chinowanikwa mumunhu anowana nhaka yemagenene kubva kune vabereki vose. Muchiitiko apo mumwe chete wevabereki ndiye anotakura geni, mwana wacho haangaregi kurwara. Asi, zvakare, inova mutakuri wechirwere mu 50% yematambudziko.

Kana munhu ane geni rakashandurwa, muviri wake unomisa kuburitsa kweimwe enzyme - hexosaminidase A, iyo inokonzera kujekesa kwezvinhu zvakaoma zvepachiviri mumasero (gangliosides). Hazvibviri kubvisa zvinhu izvi kubva mumuviri. Kuunganidza kwavo kunotadzisa kubvisa basa reropi uye kukanganisa masero emasero. Izvi zvinokonzera chirwere cheThea-Saks. Mifananidzo yakaipa inogona kuonekwa munyaya ino.

Diagnostics

Kufanana nedzimwe zvirwere zvinotapirwa zvevana vatsva, chirwere ichi chinogona kuonekwa pane imwe nguva. Kana vabereki vacho vaine chokwadi kuti mwana wavo ari kutambura nehutano hwe Tay-Sachs, zvino unoda kuenda nokukurumidza kune oculist. Mushure mezvose, chiratidzo chokutanga chechirwere ichi chinotyisa ndechenari-tsvuku tsvuku iyo inocherechedzwa painoongorora mucheche weziso recheche . Iyo nzvimbo inoonekwa nekuda kwekuunganidza kwe gangliosides mumasero e retina.

Zvadaro, zvidzidzo zvakadai sekuongorora kuongorora (yakawanda ropa count) uye kuongorora kukuru kweeuroni kunoitwa. Kuongorora kwekuongorora kunoratidza kana kubudiswa kwechirudzi A hexosaminidase protein kunoitika. Neuronal analysis inoratidza kana kune gangliosides mavari.

Kana vabereki vachiziva kare kuti ivo vari kutakura gena rakaipa, zvinozofanirawo kupedza kuongorora kuongorora, kunoitwa pavhiki 12 dzekuzvimba. Penguva yekudzidza, ropa rinotorwa kubva mu-placenta. Somugumisiro wechipimo, zvinova pachena kana mwana wacho akagara nhaka yezvisikwa zvipenyu kubva kuvabereki vake. Uyu muedzo unenge uchiri kuitwa muvechiri kuyaruka uye vanhu vakuru vane maitiro ezvimwe zviratidzo zvechirwere uye urombo husina hanya.

Kukura kwechirwere

Mwana achangoberekwa, anotambura kubva muhutano hweThea-Saks, anotaridzika sevana vose uye anoita seakanaka chaizvo. Inowanzoitika apo zvirwere zvakadai zvisingaonekwi pakarepo, asi munyaya yehosha inofungidzirwa chete nehafu yegore. Kusvikira kumwedzi 6 mwana anoita nenzira yakafanana nevezera rake. Iko kunoreva kuti, inogadzirisa musoro, zvinhu mumaoko, inoita mimwe mhere, zvichida inotanga kubuda.

Sezvo zvipembenene zviri mumasero hazvina kuparadzaniswa, zvinowedzera zvakakwana kubvumira mwana kurasikirwa nounyanzvi hwaanowana. Mwana haaiti kune vanhu vakavapoteredza, meso ake anotarirwa kune imwe pfungwa, kusava nehanya kunowanikwa. Mushure mekunge imwe nguva nguva bofu inobudirira. Gare gare chiso chemwana chinova chimiro chemhando. Kazhinji vana vane zvirwere zvisingadikanwi vanobatanidzwa nekudzivirira kwepfungwa havararami kwenguva refu. Mune mhaka yeTay-Sachs chirwere, mwana anova akaremara uye haasararami kurarama kusvika kumakore mashanu.

Zviratidzo zvechirwere mucheche:

• Mumwedzi 3-6 mwana anotanga kurasikirwa nekunze kwenyika. Izvi zvinoratidzirwa mukuti haana kuziva vanhu vari pedo, anokwanisa kuita chete nemanzwi makuru, haagoni kutarisa maonero pamusoro pehurukuro, maziso anozununguka, gare gare chiratidzo chinowedzera.
• Mumwedzi gumi basa recheche rakaderera. Zvinowanzoomera kuti aende (kugara, kukamba, kutendeuka). Chiono uye kunzwa kunotyisa, kusava nehanya kunokura. Hukuru hwe musoro (macrocephaly) inogona kuwedzera.
• Pashure pemwedzi 12, chirwere ichi chiri kukura. Kutadza kwepfungwa kwomwana kunoonekwa, iye anokurumidza kukurumidza kurasikirwa nekunzwa kwake, maonero, misi miviri inotambudza, zvinetso zvinomuka mukufema, kugumburwa kunooneka.
• Mumwedzi gumi nemana mwana wacho anonyatsorambidzwa kunzwa uye kuona, kushungurudzika, kufamba kwepasita, kutadza kuora muviri kunooneka. Vadzidzi havatauri kuchiedza uye vanoderedzwa. Uyezve, unyengeri hunyoro hunovapo nekuda kwekukuvara kweuropi.
• Pashure pemwedzi 24, mwana anotambudzika ne bronchopneumonia uye kazhinji anofa asati asvika makore mashanu. Kana mwana wacho akakwanisa kurarama kwenguva yakareba, anoita chirwere chekusagadzikana kwezvipfeko zvemarudzi akasiyana-siyana (ataxia) uye kunonoka kwemajini, izvo zvinowedzera pakati pemakore maviri ne8.

Ita-Sachs chirwere inomiririrwa nemamwe mafomu.

Kukura kwechidiki kwehexosaminidase A

Chimiro chechirwere chinotanga kuonekwa kune vana vane makore 2 kusvika ku5. Chirwere chacho chinowedzera zvishoma nezvishoma kupfuura mucheche. Nokudaro, zviratidzo zvehutano uhwu husati hwaonekwa. Iko mafungiro anokanganisa, kushungurudzika mukati mekufamba. Izvi zvose hazvikwanise kukoshesa vanhu vakuru.

Zvadaro zvinotevera zvinoitika:

• Ikoko kuneta kweutema;
• Zviduku zviduku;
• Kutaura kusinganzwisisiki uye kuputsa kwemafungiro.

Zvirwere panguva ino zvinotungamirirawo kuremara. Mwana anorarama kusvika kumakore gumi nemashanu kusvika ku16.

Vechidiki vemazino ediopy

Chirwere ichi chinotanga kufambira mberi pamakore 6-14. Iine nzira isina simba, asi pakupedzisira chirwere chinova bofu, kuora mwoyo, kushaya simba kwemisungo, zvichida kuora mitezo yemigumo. Mushure mekurarama nehosha iyi kwemakore anoverengeka, vana vanofa munzvimbo ye marasmus.

Chimiro chisingaperi chekushaya hexosaminidase

Kazhinji inowanikwa kune vanhu vakagara makore makumi matatu. Chirwere chiri muchimiro ichi chinononoka uye, sekutonga, kunopera nyore nyore. Kune mafungiro anongopinda, kutaura kwakashata, kutadza, kupera kweuchenjeri, kusagadzikana kwepfungwa, kushaya simba kwepfungwa, kugumburwa. Iyo syndrome yeThea-Sachs mune maitiro asingagumi yakawanikwa munguva pfupi yapfuura, saka hazvibviri kutaurira zveramangwana. Asi zvakajeka kuti chirwere ichi chokwadi chichaita kuti uremarare.

Kurapa kweTay-Sachs chirwere

Ichi chirwere, kufanana nedhigirii dzose dze idiocy, hachiine nzira dzokurapa. Varwere vanorayirirwa kugadzirisa chirwere uye kunyatsotarisirwa. Kazhinji zvinodhaka zvinorayirwa kupikisa hazvibate. Sezvo vacheche vasina chimiro chekumedza uye kazhinji vanofanira kuvadyisa kuburikidza neprobe. Kusununguka kwemwana anorwara kwakanyanya kusimba, saka iwe unofanirwa kubata mamiriro ekugadzirisa. Kazhinji, vana vanofa nekuda kwehutachiona hwehutachiona.

Kudzivirirwa kwechirwere ichi inongororo yevadzidzi inotarisirwa kugamuchira kuchinja kwemajeni anounza chirwere che Tay-Sachs. Kana pane, ikozvino kukurudzira hakusi kuedza kuva nevana.

Kana mwana wako ari kurwara

Nekuchengetwa kwemusha, unofanirwa kudzidza kuti ungaita sei mushure mekudonha mvura uye nasogastric aspiration. Dyyisa mwana kuburikidza nepurogiramu, edzawo nechokwadi kuti hapana marara pamucheto.

Kana iwe uine vamwe vana vane utano, iwe unofanirwa kuitisa kuongororwa kwavo nokuda kwekuvapo kwemajini.