Zvakaoma kutaura kusuruvara nekuzvidya mwoyo kunoita amai kana baba kana mwana wavo arwara, handiti? Kunyanya kana iri chirwere chisingawanzoitiki uye chinoita sechakaoma, mutoro wacho unotowedzera. Nhasi tichataura nezvechimwe chirwere chisingawanzoitiki asi chakakosha. Ichi chinonzi Krabbe Disease. Vamwe vanhu vanochidanawo kuti Globoid Cell Leukodystrophy. Kunyange zvazvo zita racho ringaita serakareba, ngatirichengetedzei riri nyore.
Chii chinonzi Krabbe Disease?
Zvichitaurwa zviri nyore, chirwere cheKrabbe chirwere chisingawanzoitiki chinokanganisa tsinga. Chinonzi "kra-bah."
Chirwere ichi ndecheboka rezvirwere zvinonzi Leukodystrophies. Muzvirwere izvi , chifukidziro chekudzivirira chinonzi Myelin mutsinga dzedu dzetsinga chinorasika (izvi zvinonzi Demyelination). Funga nezvemasero etsinga mumuviri wedu sewaya dzemagetsi. Kune chifukidziro chekudzivirira chakakomberedza waya idzi, sepurasitiki pamusoro pewaya. Ndizvo zvinonzi Myelin. Iyi myelin sheath ndiyo inobvumira mameseji etsinga kufamba nekukurumidza uye nemazvo. Muchirwere cheKrabbe, iyi myelin sheath inokuvadzwa.
Uyewo, muchirwere ichi, mhando isina kujairika yesero muuropi inonzi globoid cells inogona kuonekwa. Aya masero makuru anowanzova nenucleus dzinopfuura imwe chete.
Sezvo myelin sheath inoparadzwa, masero europi anotanga kufa. Izvi zvinokonzera matambudziko anokanganisa mashandiro etsinga. Semuenzaniso:
- Kuremara Kwepfungwa
- Kuoma mitezo
- Kurasikirwa nekunzwa kana kunzwa matsi
Chirwere cheKrabbe chirwere chinopera simba zvishoma nezvishoma nekufamba kwenguva. Chinosuwisa ndechekuti chinowanzoguma nerufu.
Chirwere ichi chakatumidzwa zita raKnud Krabbe, chiremba wepfungwa wekuDenmark.
Ndiani anonyanya kubatwa nechirwere cheKrabbe?
Vanhu vanosvika 90% vane chirwere cheKrabbe vanotanga kuratidza zviratidzo pakati pemwedzi 1 ne7. Ichi chinonzi rudzi rwechirwere cheKrabbe rwuchiri mucheche. Dzimwe nguva, chirwere ichi chinogona kutanga mushure memwedzi 18, panguva yekuyaruka kana kukura. Ichi chinonzi rudzi rwechirwere cheKrabbe rwunotanga kunonoka.
Chinhu chinonyanya kukosha ndechekuti chirwere cheKrabbe chirwere chinotorwa kubva kuvabereki kuenda kuvana kuburikidza nemajini.
Chirwere ichi chakajairika zvakadii?
Chirwere cheKrabbe chinowanzova chirwere chisingawanzoitiki. Zvisinei, kuwanda kwacho kunosiyana munzvimbo dzakasiyana dzepasi rose. Sekureva kwevaongorori, chirwere ichi chinogona kuitika mumwana mumwe chete pavana 100,000 vanozvarwa vari vapenyu muEurope uye mumwe chete pavana 250,000 vanozvarwa vari vapenyu muUnited States.
Zvisinei, chirwere ichi chinowanikwa zvakanyanya munzvimbo dzakaparadzana muIsrael, uye vanhu vanosvika 6 pavanhu 1,000.
Ndezvipi zviratidzo zvechirwere cheKrabbe?
Kuoma kwezviratidzo zvechirwere cheKrabbe kunoenderana nezera rinotanga zviratidzo. Chirwere cheKrabbe chinowanzo wedzera nekukurumidza uye chinowanzo uraya vanhu vasati vasvitsa makore maviri. Chirwere cheKrabbe chinotanga kunonoka hachina kunyanya kuipa, uye hupenyu hwevanhu hunogara kwenguva refu.
Zviratidzo zveInfantile Krabbe Disease
Zviratidzo zvechirwere cheKrabbe muhucheche zvinogona kuonekwa muzvikamu zvitatu zvikuru:
Danho rekutanga:
Mwana ane chirwere cheKrabbe anowanzo kukura zvakanaka kusvika ava nemwedzi mina kusvika mitanhatu. Ndipo panotanga zviratidzo. Izvi zvinosanganisira:
- Kusagadzikana nguva dzose, kushatirwa
- Kurutsa
- Kuomerwa nekunwa mukaka
- Kukundikana Kubudirira
- Kugara uchipisa muviri pasina zviratidzo zvehutachiona
- Kushaya simba kwetsandanyama
Mwana ane chirwere chaKrabbe anogona kunge achinzwa kubatwa, ruzha, uye chiedza zvakanyanya. Kana chinhu chakadaro chikaitika, muviri unogona kunzwa kuomarara (Tonic Spasms). Fungidzira, mwana achavhunduka uye achaomarara kana akanzwa ruzha rudiki.
Danho rechipiri:
Muchikamu chechipiri, unogona kuona zviratidzo zvakaita se:
- Kuchinja kwemaonero
- Kupera simba kwetsinga dzemaziso - Izvi zvinoreva kupera simba kwetsinga dzemaziso.
- Kumira Zvisina Kunaka - Kuoma kwetsandanyama dzemutsipa, chiuno, nemakumbo kunogona kutungamira kune chimiro chinokotama kubva pamutsipa kuenda kuzvitsitsinho (Opisthotonic Posturing). Zvakafanana nekukotama kumashure seuta.
- Mamiriro akaita seepfari
- Kunonoka kukura kwepfungwa nemuviri
- Kusakwanisa kuita zvinhu zvawakambodzidza kare (semuenzaniso, kunyemwerera, kusimudza musoro wako) zvakare.
Danho rechitatu:
Padanho rechitatu, zviratidzo izvi zvinoonekwa:
- Kurasikirwa zvachose kwekuona (upofu)
- Kurasikirwa zvachose nekunzwa (kusanzwa)
- Kugara kwemuviri zvisina kujairika - kumira kwemaoko nemakumbo akatwasuka, minwe yakanongedzwa pasi, uye musoro nemutsipa zvinodhonzwa kumashure (kumira kwemuviri zvisina kunaka)
- Kudzikira kwekugona kufamba-famba.
Kuverenga ruzivo urwu kunogona kuita kuti unzwe kusuruvara uye kutya. Asi kuziva zvinhu izvi kwakakosha zvikuru pakuongorora chirwere nekukurumidza uye kuwana rubatsiro rwaunoda.
Zviratidzo zvechirwere cheKrabbe chekupedzisira
Chirwere cheKrabbe cheVacheche Vari Kunonoka chinotanga pakati pemwedzi gumi nematatu nemakumi matatu nematanhatu. Zviratidzo zvinoonekwa zvishoma nezvishoma seizvi:
- Kutsamwa
- Kuchinja kwemaonero
- Kufamba zvisina kujairika
- Kubatwa nepfari
- Zvikamu zveApneic
- Kusagadzikana kwekushisa kwemuviri
Muchiitiko ichi, avhareji yezera rekufa inenge makore matanhatu.
Zviratidzo zveJuvenile-Onset Krabbe Disease ndeizvi:
- Kuchinja kwemaonero
- Kudengenyeka
- Kusagadzikana kwekufamba
- Kusakwanisa kudzora mafambiro sezvaunoda uye kuoma kwetsandanyama zvishoma nezvishoma
- Dambudziko reKushaya Kunyatsoteerera/Kushaya Simba (ADHD)
Kuwanda kwechirwere cheKrabbe ichi kunosiyana, asi rufu runowanzo kukonzerwa mukati memakore gumi ekuonekwa kwacho.
Zviratidzo zvechirwere cheKrabbe chekupedzisira :
- Kunzwa kupisa mumaoko nemakumbo
- Kuchinja kwemanzwiro nemaitiro
- Kudzedzereka paunenge uchifamba, kurasikirwa nekudzikama `(Ataxia)`
- Kuomarara kwetsandanyama (Spasticity)
- Kuchinja kwekuona uye upofu
- Kuzvimba
- Kusanzwa zvakanaka uye kusanzwa zvakanaka
Vanhu vazhinji vanorwara nechirwere cheKrabbe pavanenge vakura vanoshaya simba mupfungwa nemumuviri.
Chii chinokonzera chirwere cheKrabbe?
Chirwere cheKrabbe chirwere chinopfuudzwa kubva kuvabereki kuenda kuvana kuburikidza nejini. Chinogarwa nhaka mu autosomal recessive pattern. Izvi zvinoreva kuti makopi ese ari maviri ejini mumasero emwana anofanira kunge aine mutations. Munhu ane chirwere ichi ane kopi imwe chete yejini rakachinja muvabereki vake. Zvisinei, vabereki havawanzo ratidza zviratidzo. Ndivo chete vanotakura chirwere ichi.
Chirwere cheKrabbe chinokonzerwa nekuchinja kwemajini e'GALC'. Izvi zvinoita kuti muviri usagadzire enzyme inonzi 'Galactocerebrosidase'. Iyi enzyme inokosha kuti muviri wedu ugone kushandisa chinhu chinonzi 'Galactocerebroside'. Iyi galactocerebroside chikamu chakakosha che myelin (chinodzivirira tsinga).
Kana enzyme iyi inokosha yakarasika, sheath ye myelin mutsinga dzese dzemuviri inoputsika (demyelination). Izvi ndizvo zvinokonzera zviratidzo zvetsinga dzeKrabbe.
Chirwere cheKrabbe chinoonekwa sei?
Mune mamwe matunhu muUnited States, kuongororwa kwechirwere cheKrabbe kunosanganisirwa muchirongwa chekuongorora vana vacheche. Uku kuongororwa kweropa.
Imwe nzira inokosha yekuongorora chirwere cheKrabbe ndeyekuongororwa kwemifananidzo. Kunyanya, MRI (Magnetic Resonance Imaging) scan inogona kuona shanduko muuropi hwemwana dzinoratidza chirwere cheKrabbe. MRI inobatsira zvikuru pakuona maronda europi muchirwere cheKrabbe. Miedzo iyi inogonawo kubatsira kuona chirwere ichi muhudiki nekukura.
Kana mwana wako akaonekwa kuti ane chirwere cheKrabbe, tarisa kuti ane dambudziko rekusanzwa zvakanaka here kana kuti haana kuona zvakanaka.Kuongororwa Kwekunzwa uye Kuongororwa Kwemaziso zvingangodiwa. Izvi zvichabatsira kuona kuti ndeapi marudzi eZvibatsiro Zvekunzwa uye Zvibatsiro Zvekuona izvo mwana wako angada.
Kana mwana wako akaonekwa aine chirwere cheKrabbe, chiremba wako angangokurudzira kuti iwe nemumwe wako muende kunorapwa nekuongororwa majini kuti muone kana paine mukana wekuva nemumwe mwana. Vangangokurudzirawo kuti vamwe vemumhuri vaongororwe kuti vaone kana vari ivo vanotakura jini risingawanzoitiki.
Chii chinorapwa chirwere cheKrabbe?
Zvinosuwisa kuti chirwere chaKrabbe hachisati chawanikwa mushonga usingaperi. Uye kazhinji chinoguma nerufu.
Zvisinei, kune imwe nzira imwe chete yekurapa inogona kudzora kufambira mberi kwechirwere cheKrabbe: kuisirwa kwemasero eropa (hematopoietic stem cell transplant - HSCT).
Kuisirwa masero eropa kunotsiva masero asina hutano mumuviri nemasero ane hutano. Masero eropa eropa masero asina kukura anogona kukura kuita marudzi ese emasero eropa, anosanganisira masero machena eropa, masero matsvuku eropa, uye maplatelet.
MuHSCT, masero eropa anobva kumunhu ane hutano anoiswa mumwana ane chirwere cheKrabbe. Izvi zvinobatsira kupa mwana masero ane hutano uye basa rakanaka reGALC enzyme muuropi. Zvisinei, HSCT inonyanya kushanda kana ikapihwa zviratidzo zvisati zvaonekwa.
Vaongorori vanoramba vachiedza kutsvaga mishonga iri nani yechirwere cheKrabbe. Nekuti pari zvino hapana mushonga uye chirwere ichi chinowedzera nekufamba kwenguva, kurapwa kukuru kunobatsira . Izvi zvinogona kusanganisira:
- Zvinozorodza tsandanyama zvekusimbisa tsandanyama
- Mishonga yeAnticonvulsant yekudzora pfari
- Kurapa Kwemuviri Kunowedzera Kufamba
- Kurapa Kwebasa Kwevana Vakura Nevakuru
- Kana paine dambudziko rekumedza, bvisai chubhu yekudyisa
Chii chiri fungidziro yechirwere cheKrabbe?
Kufanotaura kwechirwere cheKrabbe kwakashata. Kazhinji chinoguma nerufu. Zvisinei, nguva yekurarama inosiyana zvichienderana nezera rinotanga zviratidzo.
Avhareji yehupenyu hwevana vane chirwere cheKrabbe vachiri vacheche inenge mwedzi gumi nemitatu. Vana vazhinji vane chirwere ichi vanofa mukati memakore maviri kubva pakutanga kwezviratidzo.
Mwero wekufambira mberi uye hupenyu hwechirwere cheKrabbe, chinotanga pahudiki nekukura, zvinosiyana.
Rufu runokonzerwa nechirwere cheKrabbe runowanzo kukonzerwa nekutadza kufema kunokonzerwa nekushaya simba kwetsandanyama kana hutachiona hunokonzerwa nechikafu/mvura inopinda mumapapu (aspiration).
Chirwere cheKrabbe chinogona kudzivirirwa here?
Nekuti chirwere cheKrabbe chirwere chinogarwa nhaka, hapana chatingaita kuti chidzivirirwe.
Zvisinei, kana uchinetseka nezvenjodzi yekuwana chirwere cheKrabbe kana zvimwe zvirwere zvemajini usati waedza kuva nemwana, taura nenyanzvi yehutano nezvemazano ezvemajini.
Mwana wangu ane chirwere cheKrabbe anofanira kuona chiremba rini?
Mwana wako achafanira kuona timu yake yehutano nguva nenguva kuti vaongorore zviratidzo zvake, vaongorore kufambira mberi kwake, uye vagadzirise hurongwa hwake hwerubatsiro sezvinodiwa. Kana mwana wako akaonekwa nezviratidzo zvitsva, zivisa chiremba wako nekukasika.
Chirwere cheKrabbe chirwere chetsinga chisingawanzoitiki, chinogarwa nhaka. Zvinogona kushamisa uye mutoro kuziva kuti mwana wako ane chirwere cheKrabbe. Asi yeuka, hausi wega. Kune zvekushandisa zvekukubatsira nekudzidzisa iwe nemhuri yako nezveizvi. Kuva nechikwata chekurapa chine ruzivo nezvechirwere ichi kwakakosha kuti mwana wako atarisirwe zvakanaka.
Pfupiso (Mharidzo Yekuenda Nayo Kumba)
Heano zvimwe zvinhu zviri nyore zvekurangarira nezvechirwere cheKrabbe:
- Chirwere cheKrabbe chirwere chisingawanzoitiki chemajini chinokuvadza tsinga dzemuviri.
- Izvi zvinoparadza chifukidziro chekudzivirira chinonzi myelin chinopoteredza masero etsinga.
- Kuoma kwechirwere uye hupenyu hwemunhu zvinosiyana zvichienderana nezera rinotanga zviratidzo (vacheche, vana, vakuru). Chinonyanya kuoma muhucheche.
- Parizvino hapana mushonga unowanikwa, asi kune mishonga inotsigira kudzora zviratidzo uye kuvandudza hupenyu. HSCT (hematopoietic stem cell transplant) zviratidzo zvisati zvaonekwa dzimwe nguva inogona kudzora kuipa kwechirwere.
- Ichi chirwere chinokonzerwa nemajini uye hachigone kudzivirirwa. Zvisinei, mazano ezvemajini anogona kukubatsira kuziva njodzi yako.
- Kana mwana wako aine zviratidzo izvi, zvakakosha zvikuru kutsvaga rubatsiro rwechiremba nekukasika.
Ndinovimba ruzivo urwu ruchakubatsira. Yeuka, zvakanaka kutsvaga mazano akakodzera ekurapa padambudziko ripi zvaro rehutano.
Chirwere chaKrabbe , Globoid Cell Leukodystrophy, Myelin, Demyelination, Zvirwere zvemajini, Zvirwere zvetsinga, Zvirwere zvevana
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