Wakambonzwa here sekuti mwana wako mudiki haashande zvakanaka, kana kuti haashande zvakanyanya sevamwe vana? Pamwe mwana wako anonetseka nekubata mutsipa wake zvakanaka, kana kuti muviri wake unonzwa sewakasununguka? Zvakajairika kuti mubereki kana mubereki anzwe kutya paanoona chimwe chinhu chakadai. Nhasi tichataura nezvechirwere chisingawanzoitiki chinogona kukonzera zviratidzo izvi, asi chisingataurwi zvakanyanya munharaunda. Izvozvo zvinonzi Spinal Muscular Atrophy, kana kuti SMA muchidimbu. Usatya paunonzwa zita iri. Muchinyorwa chino, tichataura nezvechirwere ichi zviri nyore, nenzira yaunogona kunzwisisa.
Chii chaizvo chinonzi SMA?
Zvichitaurwa zviri nyore, Spinal Muscular Atrophy (SMA) chirwere chinokonzerwa nemajini (chinogarwa nhaka). Ichi chirwere chine chekuita netsinga dzemuviri. Nekuda kwechirwere ichi, dzimwe tsandanyama dziri mumuviri wedu dzinopera simba zvishoma nezvishoma uye dzinopera simba. Kungofanana nechishandiso chisina kushandiswa chinopera ngura zvishoma nezvishoma.
Ngatitsanangurei izvi zvishoma. Uropi hwedu nemusana zvinotumira mashoko kumhasuru dziri mumuviri wedu zvichidziudza kuti dzifambe. Mashoko aya anotakurwa nerudzi rwakakosha rwemasero etsinga anoshanda sewaya yemagetsi. Tinodaidza aya ma neuron emota epasi . Chinoitika muSMA ndechekuti ma neuron aya emota anoparadzwa zvishoma nezvishoma. Ipapo shoko rinobva kuuropi kuenda kumhasuru rekuti "fambe" harigamuchirwi nemazvo. Kana shoko rikasagamuchirwa, tsandanyama dzinoshaya simba uye zvishoma nezvishoma dzinopera simba.
Fungidzira kuti chii chingaitika kana waya yemagetsi yeTV yako kumba ikatyoka? Kunyangwe TV yacho yakanaka sei, haishande, handiti? Ndizvo zvazviri neizvi. Kunyangwe tsandanyama dzako dziine hutano, kana masero etsinga anotumira mameseji kwadziri akaparadzwa, tsandanyama hadzizokwanisi kushanda.
Muchirwere ichi, tsandanyama dziri pedyo nepakati pemuviri (tsandanyama dziri pedyo) dzinonyanya kushaikwa simba. Semuenzaniso, nzvimbo dzakadai semafudzi, chiuno, nezvidya. Tsandanyama dziri kure nepakati pemuviri (tsandanyama dziri kure), dzakadai seminwe, hadzinyanyi kukanganiswa. Kushaya simba uku kunowedzera nekufamba kwenguva.
Ndeapi marudzi makuru eSMA?
SMA haisi imwe chete. Vanachiremba vanoipatsanura kuita mhando shanu huru zvichienderana nezera rinotanga zviratidzo, kuoma kwechirwere, uye hupenyu hwemunhu. Kunzwisisa kupatsanurwa uku kunogona kukubatsira kunzwisisa chirwere zviri nani.
| Rudzi rweSMA | Zera rekutanga kwezviratidzo | Hunhu hukuru uye kuoma |
|---|---|---|
| Rudzi 0 (Congenital SMA) | Usati waberekwa (munguva yemwana asati aberekwa) | Rudzi rusingawanzoonekwi uye rwakanyanya kuipa. Mwana haafambi zvakanyanya mudumbu. Kushaya simba kwakanyanya kwetsandanyama uye kutadza kufema kunoitika pakuzvarwa. Mwana anowanzofa pakuzvarwa kana mukati memwedzi wekutanga. |
| Rudzi 1 (chirwere cheWerdnig-Hoffman) | Mwedzi mitanhatu yapfuura | Vanenge 60% yevarwere vane SMA vanowira muchikamu ichi. Kuomerwa nekudzora mutsipa, hypotonia , kuoma kumedza, uye kufema ndizvo zviratidzo zvikuru. Pasina rutsigiro rwekufema, vana vazhinji vanofa vasati vasvitsa makore maviri. |
| Rudzi rwechipiri (Chirwere cheDubowitz) | Pakati pemwedzi mitanhatu negumi nemasere | Vana ava vanogona kugara pasi, asi havagone kufamba. Kushaya simba kwetsandanyama kunowedzera zvishoma nezvishoma, kunyanya mumakumbo. Kutadza kufema ndiko kunonyanya kukonzera rufu. Vanhu vanosvika 70% vanorarama kusvika vava nemakore 25. |
| Rudzi rwechitatu (Chirwere cheKugelbert-Welander) | Mushure memwedzi gumi nemisere | Zviratidzo zvacho hazvina kunyanya kuoma. Kutadza kufamba zvakanaka. Matambudziko ekufema haawanzoitiki. Unogona kurarama hupenyu hwakajairwa. |
| Rudzi rwechina (Kutanga kwechirwere chevakuru) | Mushure memakore makumi maviri nerimwe | Rudzi rusina kunyanya kuoma. Zviratidzo zvinotanga zvishoma nezvishoma. Vanhu vazhinji vanogona kuita mabasa avo nekufamba netsoka. Nguva yekurarama haiwanzo kanganiswa. |
Sei chirwere ichi cheSMA chichiitika? Chii chinokonzera?
Sezvatakambotaura, ichi chirwere chinokonzerwa nemajini. Izvi zvinoreva kuti chinokonzerwa nekusakwana kwemajini edu.
Mune jini mumuviri wedu rinonzi SMN1 (Survivor Motor Neuron 1) . Basa guru rejini iri nderekugadzira puroteni (SMN protein) inokosha pakurarama kwema neuron ekufamba atakambotaura nezvawo. Munhu ane SMA ane shanduko kana chikanganiso mujini iri reSMN1. Saka, muviri haugadzi puroteni yakakwana yeSMN. Pasina puroteni iyi, ma neuron ekufamba haagone kurarama. Anodzikira zvishoma nezvishoma ofa.
Saka chii chinonzi SMN2 gene?
Nerombo rakanaka, muviri wedu une rimwe jini rakafanana nejini reSMN1. Ndiro jini reSMN2 . Izvi zvakafanana ne'backup' yejini reSMN1. Zvisinei, jini iri reSMN2 rinongoburitsa puroteni shoma yeSMN.
Kuoma kwechirwere ichi kunoenderana nehuwandu hwemakopi ejini reSMN2. Kana munhu aine makopi akawanda ejini reSMN2, muviri wake unogadzira mapuroteni akawanda eSMN. Saka, kunyangwe jini reSMN1 risingashande, kushomeka kwacho kunogona kudzoserwa kusvika pamwero wakati. Nokudaro, zviratidzo zveavo vane makopi akawanda eSMN2 hazvina kunyanya kuipa.
Chirwere ichi chinotorwa sei nhaka kumwana?
Izvi zvinogara nhaka nenzira ye autosomal recessive pattern. Izvi zvinoreva kuti kuti mwana awane chirwere ichi, amai nababa vanofanira kugara nhaka gene reSMN1 rakakanganisika.
Kazhinji, vabereki vese "ndivo vane chirwere" - vane kopi imwe chete yejini risina kunaka. Asi havana zviratidzo nekuti vane jini rimwe chete rakanaka reSMN1. Kana vabereki vaviri vakadaro vaine mwana,
- Pane mukana we25% wekuti mwana achaita chirwere ichi.
- Pane mukana we50% wekuti mwana wacho achavawo nechirwere ichi.
- Mwana ane mukana we25% wekuva neutano hwakanaka asina kana chikanganiso.
SMA inoonekwa sei?
Kana mwana wako achifungidzirwa kuti ane chirwere cheSMA, chiremba achatanga nekukubvunza nezvezviratidzo zvemwana wako uye nhoroondo yezveutano hwemhuri. Zvadaro vachazoongorora muviri netsinga.
Kuongororwa kukuru kweSMA ndiko kuongororwa kwemajini. Uku kuongororwa kweropa kuri nyore. Kunogona kuongorora SMA nemazvo 95% yenguva. Munyika dzakabudirira, vacheche vese vachangobva kuzvarwa vava kuongororwa chirwere ichi.
Dzimwe nguva zviratidzo zveSMA zvinogona kufanana nezvimwe zvirwere zvetsinga dzemutsinga, zvakaita semuscular dystrophy. Saka kana chiremba wako asingafungidzire SMA nekukasika, anogona kuraira mimwe miedzo kuti awane chikonzero, senge:
- Kuongororwa kweropa reCreatine Kinase (CK): Iyi enzyme inoungana muropa kana tsandanyama dzakuvara. Zvisinei, huwandu hweCK hahuwanzo kukwira muSMA.
- Chidzidzo cheElectromyogram (EMG) uye Kutungamirirwa kweNerve:Miedzo iyi inoyera mashandiro emagetsi emhasuru netsinga.
- Kuongororwa kwetsandanyama: Izvi hazvichawanzoitwa kakawanda. Pano, kachidimbu kadiki ketsandanyama kanotorwa koongororwa.
Izvi zvinogona kuonekwa here panguva yekuzvitakura?
Ehe. Kana mumwe munhu mumhuri yako aine chirwere cheSMA, unogona kuyedza mwana wako asati aberekwa kuti aone kana aine chirwere ichi panguva yekuzvitakura. Kune miedzo mikuru miviri:
1. Amniocentesis: Mukuita uku, mvura shoma yeamniotic yakakomberedza mwana ari mudumbu inobviswa nesirin'i yoongororwa majini.
2. Chorionic Villus Sampling (CVS): Pano, kanyama kadiki kanotorwa kubva muplacenta koongororwa.
Ndeapi marapirwo eSMA?
Zvinosuwisa kuti hapana mushonga weSMA parizvino. Asi musazvidya mwoyo. Pane zvinhu zvakawanda zvamunogona kuita kudzora zviratidzo, kudzivirira matambudziko, uye kuita kuti hupenyu hwemwana wenyu huve nyore. Pamusoro pezvo, kwave nemimwe mishonga inoshanda zvikuru yakawanikwa munguva pfupi yapfuura inogona kushandura mafambiro echirwere.
Kurapa kunogona kukamurwa kuita zvikamu zvikuru zviviri:
1. Kutarisira zviratidzo uye kutarisirwa kunotsigira
Izvi zvakagadzirirwa kuderedza kusagadzikana kunokonzerwa nechirwere uye kubatsira mwana kurarama hupenyu hwakanaka.
- Kurapa muviri: Kunobatsira kuchengetedza chimiro chakakodzera, kudzivirira kuomarara kwemajoini, uye kushaya simba kwetsandanyama zvishoma nezvishoma.
- Kurapa kwemabasa: Kunobatsira mwana kuita mabasa ezuva nezuva ari ega.
- Zvishandiso zvekubatsira: Ungangoda kushandisa zvinhu zvakasiyana-siyana zvinobatsira, zvakaita sezvitsigiro zvesimbi, madondoro, maturusi ekufamba, uye zvigaro zvevane mawiricheya.
- Kurapa kwekutaura nekumedza: Kunobatsira pakutaura nekumedza matambudziko.
- Chubhu yekudyisa: Kana kumedza kwakaoma kana kuti kune njodzi, chubhu inogona kuiswa nemhino kana mudumbu zvakananga mudumbu.
- Kufefetera kwemubatsiri: Kana paine matambudziko ekufema, michina yakakosha (mafentilator) inofanira kushandiswa.
2. Mishonga inochinja mafambiro echirwere
Kubva muna 2016, mishonga yakati wandei yakaunzwa yakachinja kurapa kweSMA. Iyi mishonga inogona kuchinja zvakanyanya mafambiro echirwere.
- Kurapa Kunochinja Zvirwere: Mishonga iyi inoshanda nekukurudzira jini re'backup' ratakataura nezvaro kare, jini reSMN2, uye zvichiita kuti rigadzire mapuroteni akawanda eSMN. Nusinersen (Spinraza®) neRisdiplam (Evrysdi®) ndiwo rudzi urwu rwemushonga.
- Kurapa Kutsiva Majini: Iyi inzira yekurapa yepamusoro-soro.Mushonga we onasemnogene abeparvovec-xioi (Zolgensma®) unotsiva jini reSMN1 rinenge risipo kana kuti risina kunaka nejini reSMN1 rinoshanda. Uku kurapwa kunopihwa kamwe chete netsinga (IV).
Chinonyanya kukosha ndechekuti mishonga mitsva iyi inoshanda zvakanyanya kana yatanga zviratidzo zvisati zvaonekwa, kana kuti pakutanga chaipo. Ndosaka kuongororwa kwechirwere nekukurumidza kwakakosha.
Kufambira mberi kwechirwere cheSMA uye matambudziko angangoitika
Nekufamba kwenguva, kushaya simba kwemhasuru kunogona kukonzera matambudziko akasiyana-siyana.
- Scoliosis , kutyoka kwechiuno, kutyoka kwemapfupa.
- Kushaya chikafu chinovaka muviri uye kushaya mvura mumuviri nekuda kwekuomerwa nekumedza chikafu.
- Zvirwere zvepachipfuva zvakaita se aspiration pneumonia zvinokonzerwa nechikafu chinopinda mumhepo.
- Kushaya simba mumapapu uye kufema zvakaoma.
Nguva yekurarama kwemwana ane SMA inosiyana zvikuru zvichienderana nerudzi rwechirwere. Mumhando yechitatu nechina, nguva yekurarama haiwanzo kanganiswa zvakanyanya. Muzviitiko zvakakomba senge mhando yekutanga, matambudziko acho anokura. Zvisinei, nekurapwa kutsva, nguva yekurarama uye mhando yehupenyu, kunyanya kuvana vane mhando yekutanga, ikozvino yawedzera zvakanyanya. Saka, munhu akanakisa kuziva ruzivo rwakanyatsojeka nezvemamiriro emwana wako ndichiremba wako.
Mharidzo Yekuenda Nayo Kumba
- SMA chirwere chinoberekwa semajini chinokuvadza masero etsinga anotakura mashoko kubva kuuropi kuenda kutsandanyama.
- Kuoma kwechirwere kunosiyana zvichienderana nerudzi (Type 0 kusvika 4).
- Kana mwana wako aine zviratidzo zvakaita sekuneta, kutadza kufamba, kana kuoma kudzora mutsipa wake, zvakakosha kuti uone chiremba nekukasika.
- Nhasi uno, kune mishonga yemazuva ano inoshanda zvikuru inogona kuchinja maitiro eSMA. Kurapwa kunotanga nekukurumidza, mhedzisiro yacho inowedzera.
- Kurapa chirwere ichi kunoda rutsigiro rwechikwata chehutano, kusanganisira vanachiremba, varapi vemuviri, uye varapi vemabasa.
- Zvakajairika kuti unzwe kutya uye kunetseka paunenge uchidzidza nezveSMA. Usazengurira kuwana rutsigiro rwepfungwa rwaunoda iwe nemhuri yako.
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