Leukodystrophy Metachromatic

Metachromatic leukodystrophy chirwere chisiyana-siyana chinofamba nemhuri (genetic) chinoita kuti mafuta (lipids) awanike muzera, kunyanya mubongo, mune spinal cord uye peripheral nerves. Kuwanda uku kunokonzerwa nekushayikwa kwe enzyme inobatsira kuputsa lipids inonzi sulfatides. Ubongo nehurongwa hwematumbu zvinorasikirwa nechinzvimbo zvishoma nezvishoma nekuti chinhu chinofukidza uye chinodzivirira masero ematumbo (myelin) chinovakuvadzwa.

Kune mafomu matatu emetachromatic leukodystrophy, anobatanidza zera rakasiyana-siyana: fomu rekutanga rehudiki, fomu rechirikadzi ne fomu rekukura. Zviratidzo nezviratidzo zvinogona kusiyana. Fomu rehudiki ndiro rinowanzoitika uye rinofambira mberi nekukurumidza kupfuura mamwe mafomu.

Hapana mushonga wemetachromatic leukodystrophy zvichiri. Zvichienderana nefomu nezana remakore rekutanga, kuzivikanwa nekurapa kwakakurumidza kunogona kubatsira kudzora zvimwe zviratidzo nezviratidzo uye kunonoka kufambira mberi kwechirwere.

Kukuvadzwa kwekunze kwakachengetedza myelin kunodzivirira mitsipa kunotungamirira kune kuwedzera kuri kukura kwehuropi nemabasa enhevedzano yematumbu, kusanganisira: Kurasikirwa nehunyanzvi hwekutora manzwiro, sekubata, kurwadziwa, kupisa uye kurira Kurasikirwa nepfungwa, kufunga uye hunyanzvi hwekufunga Kurasikirwa nehunhu hwekufamba, sekufamba, kufamba, kutaura nekudya Tsandanyama dzakasimba, dzakasimba, kushanda kwetsandanyama kusina kunaka uye kutadza kufamba Kurasikirwa nebasa rebladder ne bowel Matambudziko e gallbladder Kupofuma Kurasikirwa kunzwa Kuita zvechisimba Matambudziko emumoyo nemafambisirwo, kusanganisira manzwiro asina kugadzikana nekushandisa zvinodhaka Imwe neimwe fomu yemetachromatic leukodystrophy inoitika pazera rakasiyana uye inogona kuva nezviratidzo zvepakutanga uye zviratidzo uye mitengo yekufambira mberi: Fomu rekuchemberera. Iyi ndiyo fomu yakajairika yemetachromatic leukodystrophy, ichitanga kutenderera makore maviri ekuberekwa kana pasi. Kurasikirwa kuri kukura kwekutaura nekushanda kwetsandanyama kunoitika nekukurumidza. Vana vane iyi fomu kazhinji havafi vasati vapedza udiki. Fomu yevechidiki. Iyi ndiyo fomu yechipiri yakajairika uye inotanga muvana vane makore matatu kusvika gumi nematanhatu ekuberekwa. Zviratidzo zvepakutanga ndizvo matambudziko ehutano nepfungwa uye kuwedzera kuoma kuchikoro. Kurasikirwa nehunyanzvi hwekufamba kunogona kuitika. Kunyange fomu yevechidiki isingafambi nekukurumidza se fomu rekuchemberera, kupona kazhinji kunenge kushoma kupfuura makore makumi maviri mushure mekunge zviratidzo zvatanga. Fomu yevanhu vakuru. Iyi fomu haina kujairika uye kazhinji inotanga mushure memakore gumi nematanhatu. Zviratidzo zvinofambira mberi zvishoma nezvishoma uye zvinogona kutanga nehutano nepfungwa dzepfungwa, kushandisa zvinodhaka nedoro, uye matambudziko nechikoro nebasa. Zviratidzo zvepfungwa senge mazano nekuona zvinhu zvisiripo zvinogona kuitika. Nzira iyi fomu inosiyana, ine nguva yezviratidzo zvakagadzikana uye nguva yekuderera nekukurumidza mukushanda. Vakuru vanogona kupona kwemakumi emakore mushure mezviratidzo zvepakutanga. Taura nachiremba wako kana ukaona chero zviratidzo zvakanyorwa pamusoro kana iwe uine zvinokunetsa nezviratidzo zvako kana zviratidzo.

Taura nachiremba wako kana ukaona chero zviratidzo zvakanyorwa pamusoro kana iwe uine hanya nezviratidzo zvako kana zviratidzo.

Metachromatic leukodystrophy chirwere chinangwa chinotangwa negene rakashata (rakachinja). Chirwere ichi chinotangwa nenzira ye autosomal recessive. Gene rakashata recessive rinowanikwa pane rimwe remachromosomes asingasiri ebonde (autosomes). Kuti munhu atange chirwere che autosomal recessive, vabereki vese vanofanira kuva vatakuri, asi kazhinji havaone zviratidzo zvechirwere ichi. Mwana anorwara anogara achiwana makopi maviri egene rakashata - rimwe kubva kuna baba nerimwe kubva kuna mai.

Chikonzero chakajairika chemetachromatic leukodystrophy ndicho kuchinja kwe ARSA gene. Kuchinja uku kunoguma nekukwana kwe enzyme inoparadzanisa mafuta anonzi sulfatides anoungana mumyelin.

Zvisingawanzoitika, metachromatic leukodystrophy inokonzerwa nekushomeka kweimwe mhando yepuroteni (activator protein) inoparadzanisa sulfatides. Izvi zvinokonzerwa nekuchinja kwe PSAP gene.

Kuunganidzwa kwe sulfatides kunokuvadza, kunoparadza masero anogadzira myelin - anonziwo white matter - anodzivirira mitsipa. Izvi zvinoguma nekuparadzwa kwemabasa emasero emitsipa muuropi, spinal cord nemitsipa yepiriferi.

Chiremba wenyu achaita bvunzo yemuviri — kusanganisira bvunzo yeneurological — uye achiongorora zviratidzo ne nhoroondo yekurapa kuti aone kana paine zviratidzo zve metachromatic leukodystrophy. Chiremba wenyu angarayira bvunzo dzekuongorora chirwere ichi. Bvunzo idzi dzinobatsirawo kuona kuti chirwere chacho chakakomba sei. Bvunzo dzerabhoritari. Bvunzo dzeropa dzinotsvaka kushomeka kwe enzyme kunokonzeresa metachromatic leukodystrophy. Bvunzo dzemukombero dzinogona kuitwa kuti uone mazinga esulfatide. Bvunzo dzemajini. Chiremba wenyu angaita bvunzo dzemajini kuti aone kana paine mutations mu gene inobatanidzwa ne metachromatic leukodystrophy. Angakurudzirawo kuongororwa kwehama, kunyanya vakadzi vane pamuviri (bvunzo dze prenatal), kuti aone kana paine mutations mu gene. Kudzidza kwekuita kwemashura. Bvunzo iyi inoyera maimpulses emashura nemagetsi uye basa mumagaro nemasura nekupfuudza simba diki kuburikidza ne electrodes paganda. Chiremba wenyu angashandisa bvunzo iyi kutsvaka kukuvara kwemashura (peripheral neuropathy), izvo zvakajairika muvanhu vane metachromatic leukodystrophy. Magnetic resonance imaging (MRI). Bvunzo iyi inoshandisa ma magnets ane simba nema radio waves kuti ibudirire mifananidzo yakajeka yehuropi. Idzi dzinogona kuziva pattern yakafanana ne stripe (tigroid) ye white matter isina kunaka (leukodystrophy) muhuropi. Bvunzo dzepfungwa nepfungwa. Chiremba wenyu angayera mano epfungwa nepfungwa (cognitive) uye aongorore maitiro. Bvunzo idzi dzinogona kubatsira kuona kuti mamiriro acho anoita sei basa rehuropi. Matambudziko epfungwa nemaitiro angave ndiwo maratidzo ekutanga mumaitiro ejuvenile neemaadult emetachromatic leukodystrophy. Kutarisirwa paMayo Clinic Timu yedu inokoshesa ye Mayo Clinic nyanzvi inogona kukubatsira nezvinetso zvako zvehutano zvine chekuita ne metachromatic leukodystrophy Tanga pano

Leukodystrophy yemavara inorasika haina mushonga wacho zvakadaro, asi miedzo yekurapa inopa tariro yekurapa kwemangwana. Kurapa kuripo ikozvino kunangidzirwa pakudzivirira kukuvara kwetwopa, kudzora kufambira mberi kwechirwere ichi, kudzivirira matambudziko uye kupa rutsigiro. Kuziva uye kuita chimwe chinhu pakutanga kunogona kuvandudza mugumisiro kune vamwe vanhu vane chirwere ichi.

Sezvo chirwere ichi chichifambira mberi, nhanho yekutarisirwa inodiwa kuti zvido zvezuva nezuva zvibudirire inowedzera. Timu yako yekutarisira utano ichaita newe kuti ikubatsire kudzora zviratidzo uye kuedza kuvandudza hupenyu hwako. Taura nachiremba wako nezve mukana wekubatanidzwa muedzo yekurapa.

Leukodystrophy yemavara inorasika inogona kutarisirwa nezvikamu zvakati wandei zve kurapa:

• Mishonga. Mishonga inogona kuderedza zviratidzo, senge matambudziko ehutano, kuita zvechisimba, kuoma kurara, matambudziko emuviri, hutachiona uye kurwadziwa.
• Kurapa kwemuviri, basa uye kutaura. Kurapa kwemuviri kunokurudzira kusimba kwemhasuru uye majoini uye kuchengetedza kufamba kunogona kubatsira. Kurapa kwemibato uye kutaura kunogona kubatsira kuchengetedza kushanda.
• Rubatsiro rwekudya. Kushanda nesainzi yekudya (dietitian) kunogona kubatsira kupa chikafu chakakodzera. Pakupedzisira, zvinogona kuva zvakaoma kumira kudya kana mvura. Izvi zvinogona kuda zvishandiso zvekupa chikafu sezvo mamiriro acho achifambira mberi.
• Kurapa kwakasiyana-siyana. Kurapa kwakasiyana-siyana kunogona kudiwa sezvo mamiriro acho achifambira mberi. Mienzaniso inosanganisira chigaro chemavhiri, walker kana zvimwe zvinhu zvinobatsira; kufema kwemagetsi kubatsira nekufema; kurapa kudzivirira kana kugadzirisa matambudziko; uye kutarisirwa kwenguva refu kana kupinda muchipatara.

Kutarisira leukodystrophy yemavara inorasika kunogona kuva kwakaoma uye kuchinja nekufamba kwenguva. Kuongororwa kazhinji nechikwata chezvivakwa zvehutano vane ruzivo mukutarisira chirwere ichi kunogona kubatsira kudzivirira matambudziko akati wandei uye kukubatanidza nerutsigiro rwakakodzera pamba, kuchikoro kana kubasa.

Kurapa kunogona kuitika kwe leukodystrophy yemavara inorasika kuri kudzidzwa kunosanganisira:

• Gene therapy uye mamwe marudzi e cell therapy anounza majeni ane hutano kutsiva akaremara
• Enzyme replacement kana kuwedzera kurapa kuderedza kuunganidzwa kwemafuta
• Substrate reduction therapy, inoderedza kugadzirwa kwemafuta

Kutarisira mwana kana nhengo yemhuri ine chirwere chisingaperi uye chinowedzera zvishoma nezvishoma senge leukodystrophy yemavara inorasika kunogona kuva kunetsa uye kunoremedza. Nhanho yekutarisira kwemuviri zuva nezuva inowedzera sezvo chirwere ichi chichifambira mberi. Ungasaziva kuti chii chaunofanira kutarisira, uye ungave uine hanya nezve kugona kwako kupa kutarisirwa kunodiwa.

Rangarira matanho aya kuti uzvigadzirire:

• Dzidza nezve chirwere ichi. Dzidza zvakawanda sezvinobvira nezve leukodystrophy yemavara inorasika. Wobva waite sarudzo dzakanakisa uye uve muvambi wewe pachako kana mwana wako.
• Tsvaga timu yevanachiremba vanovimbwa navo. Uchada kuita sarudzo dzakakosha nezve kutarisirwa. Nzvimbo dzehutano dzine mapoka chaiwo dzinogona kukupa ruzivo nezve chirwere ichi, kuronga kutarisirwa kwako pakati pezvivakwa, kukubatsira kuongorora sarudzo uye kupa kurapa.
• Tsvaga mamwe mhuri. Kutaura nevanhu vari kutarisana nematambudziko akafanana kunogona kukupa ruzivo uye rutsigiro rwepfungwa. Bvunza chiremba wako nezve mapoka ekutsigira munharaunda yako. Kana boka risiri rekukosha kwauri, zvichida chiremba wako anogona kukubatanidza nemhuri yakatarisana nechirwere ichi. Kana kuti ungakwanisa kuwana boka kana rutsigiro rwega online.
• Funga nezverutsigiro rwevatariri. Kumbira kana kugamuchira rubatsiro mukutarisira waunoda kana zvichidiwa. Sarudzo dzerutsigiro rwakawedzerwa dzinogona kusanganisira kukumbira nezve misoro yekutarisira, kukumbira rubatsiro kubva kumhuri neshamwari, uye kutora nguva yekufarira kwako uye mabasa. Kurairwa nemunyanzvi wehutano hwepfungwa kunogona kubatsira pakugadzirisa uye kukurira.