Dzimwe nguva unonzwa kupisa kusingatsungiririki pamaoko ako nepasi pasina chikonzero here? Kana kuti unonzwa kuneta zvakanyanya uye usingadikitiri, uye uine mavanga matsvuku paganda rako here? Ungafunga kuti izvi zvinhu zvakajairika. Asi izvi zvinogonawo kuva zviratidzo zvechirwere chisingawanzoitiki chinonzi Fabry Disease , chatisati tanzwa zvakawanda nezvacho. Usazvidya mwoyo, tichataura nezvezita iri, kuti sei richiitika, zviratidzo zvacho, uye kana paine mushonga, munyaya ino nhasi.
Chii chaizvo chinonzi Fabry Disease?
Zvichitaurwa zviri nyore, chirwere cheFabry chirwere chinokonzerwa nekusakwana kwemajini mumuviri wedu. Chinoitika ndechekuti kugadzirwa kweenzyme inokosha mumuviri wedu kunoderera kana kuti hakuna zvachose. Zita reenzyme iyi ndi alpha-galactosidase A , kana kuti `(alpha-GAL)` muchidimbu.
Fungidzira kuti miviri yedu ine hurongwa hwakafanana nekambani inorasira marara. Iyi enzyme inonzi `alpha-GAL` ndiyo mushandi akangwara kupfuura vese mukambani iyoyo. Basa rayo nderekuchenesa nekupwanya sphingolipids nemazvo, rudzi rwemafuta (zvakanyanya kudaro, chinhu chakaita semafuta) chinogadzirwa mukati memasero edu.
Zvino, mumuviri wemunhu ane chirwere cheFabry, mushandi uyu akangwara, enzyme ye `alpha-GAL`, haina huwandu hwakakwana. Chii chinoitika ipapo? Mafuta akaita semarara anonzi `sphingolipids' anotanga kuungana mumuviri. Kungofanana nemurwi wemarara unoungana mumba kana marara asina kubviswa. Rudzi urwu rwemafuta runonyanya kuungana mutsinga dzedu dzeropa, mwoyo, itsvo, uropi, tsinga uye ganda. Kana mafuta akaungana seizvi nekufamba kwenguva, nhengo idzodzo dzinotanga kukuvara. Izvi ndezveboka rezvirwere zvinonzi lysosomal storage disorders .
Ndeapi marudzi makuru echirwere ichi?
Chirwere cheFabry chinogona kukamurwa kuita mhando mbiri huru, zvichienderana nezera rinotanga kuoneka zviratidzo.
| Rudzi rwechirwere | Tsananguro |
|---|---|
| Rudzi rwekare | Zviratidzo zverudzi urwu rwechirwere zvinotanga kuonekwa muhudiki kana kuyaruka. Dzimwe nguva, kupisa kusingatsungiririki mumaoko netsoka kunogona kuitika pazera remakore maviri. Zviratidzo zvinowedzera zvishoma nezvishoma nekufamba kwenguva. |
| Rudzi rwekutanga kunonoka/rusingawanzoitiki | Murudzi urwu, hapana zviratidzo zvinoonekwa kusvika pazera remakore makumi matatu kana kupfuura. Chirwere ichi chinogona kutanga kuonekwa mushure mekunge chirwere chakakomba chakadai sekutadza kushanda kweitsvo kana chirwere chemwoyo chatanga. |
Chirwere ichi chinowanzoitika here? Ndiani anochibata?
Chirwere cheFabry chirwere chisingawanzoitiki. Zvichienderana nehuwandu, chirwere ichi chinowanikwa mumunhu mumwe chete pavanhurume 40,000. Zvisinei, chirwere ichi chinoitika panguva yekunonoka chinowanzoitika zvishoma. Chinogona kubata munhu mumwe chete pavanhurume 1,500 kusvika 4,000.
Zvakaoma kutaura kuti chirwere ichi chakanyanya sei pakati pevakadzi, sezvo vamwe vakadzi vasina zviratidzo zvachose, kana kuti vasina zviratidzo zvakanyanya, saka vanorarama vasina kuonekwa kuti vane chirwere ichi.
Izvi ndizvo zvinoitika kubva kuzvizvarwa nezvizvarwa.
Ichi chirwere chemajini, zvichireva kuti chinopfuudzwa kubva kuvabereki kuenda kuvana. Jini risina kunaka rinokonzeresa izvi riri paX chromosome yedu. Ngationei kuti izvi zvinoitika sei mumhuri.
- Kana baba vane chirwere ichi: Baba vane chirwere cheFabry vanopa chromosome yavo yeX kuvanasikana vavo vese . Izvi zvinoreva kuti vanasikana vavo vese vachagara nhaka yekuchinja kwemajini echirwere ichi. Asi vanakomana havasi panjodzi . Izvi zvinodaro nekuti vanakomana vanogamuchira chromosome yeY kubva kuna baba vavo, kwete X chromosome.
- Kana amai vane chirwere ichi: Amai vane chirwere cheFabry vane mukana we50% wekupa chromosome X isina kunaka kumwana mumwe nemumwe wavo (mwanasikana kana mwanakomana) . Zvakafanana nekukanda mari. Mumwe mwana anogona kugara nhaka chirwere ichi, mumwe asingagare nhaka.
Ndezvipi zviratidzo zvechirwere cheFabry?
Zviratidzo zvinogona kusiyana zvikuru kubva pamunhu nemunhu. Vamwe vanhu vane zviratidzo zvisina kunyanya kuipa, nepo vamwe vanogona kunge vaine zviratidzo zvakakomba. Varume vanowanzova nezviratidzo zvakakomba kupfuura vakadzi.
Izvi ndizvo zvimwe zvezviratidzo zvinowanzoonekwa:
- Kurwadziwa kwemaoko netsoka: Maoko netsoka zvinogona kunzwa sezvisina simba, kukwenya, kana kupisa. Kurwadziwa uku kunogona kuwedzera panguva yekurovedza muviri.
- Kunzwa kupisa: Kusakwanisa kushivirira kupisa kwakanyanya kana kutonhora zvakanyanya.
- Kudzikira kwedikita: Vamwe vanhu vanodikitira zvishoma (hypohidrosis) . Vamwe havadikitiri zvachose (anhidrosis) .
- Kuchinja kweganda: Mavara madiki, akakwidzwa, matsvuku kana epepuru anoonekwa munzvimbo dzakadai sepachipfuva, kumusana, uye panzvimbo yesikarudzi. Aya anonzi angiokeratoma .
- Kuchinja kwemaziso: Patani yakakosha inokura pa cornea yeziso. Izvi zvinonzi cornea verticillata . Zvisinei, izvi hazvikanganisi kuona chero nzira. Chiremba chete ndiye anogona kuona izvi achishandisa mudziyo wakakosha (slit lamp).
- Matambudziko ekugaya chikafu: Matambudziko akadai sekurwadziwa mudumbu, kuzvimba, manyoka, kana kuvimbiwa anowanzoitika.
- Zviratidzo zvinowanzoonekwa: Kuneta, dzungu, fivha, uye kurwadziwa kwemuviri (sefuruu) zvinogona kuitika.
- Matambudziko ekunzwa: Kurasikirwa nekunzwa kana kurira munzeve (tinnitus) kunogona kuitika.
- Mhedzisiro paitsvo: Kuwedzera kwehuwandu hweprotein muweti (proteinuria) .
- Kuzvimba: Makumbo, zvitsitsinho, netsoka zvinozvimba (edema) .
Ndezvipi zvinetso zvine njodzi zvinogona kuitika nekuda kwechirwere ichi?
Kwemakore akawanda, kuunganidzwa kwemafuta aya anonzi `sphingolipids' mumuviri kunogona kukonzera kukuvara kukuru kwetsinga dzeropa nenhengo dzemuviri. Izvi zvinogona kukonzera matambudziko anogona kutoisa hupenyu panjodzi.
Sezvo ichi chirwere chinoramba chichienderera mberi, kuonekwa nekukurumidza uye kurapwa kunogona kubatsira zvikuru mukudzivirira matambudziko aya akakomba.
Matambudziko makuru ndeaya:
- Chirwere chemwoyo: Zvirwere zvakaita sekushaya kwemoyo kusingawanzoitiki (arrhythmia) , kurwiswa kwemoyo, kukura kwemoyo, uye kutadza kushanda kwemoyo .
- Kukundikana kweitsvo: Kukuvadzwa kweitsvo kunogona kukonzera kurasikirwa nebasa radzo zvachose.
- Matambudziko etsinga: Kukuvadzwa kwetsinga dzemumativi (peripheral neuropathy) kunogona kukonzera kurwadziwa kwakanyanya uye kusanzwa simba mumakumbo.
- Kurohwa: Kuvharika kwetsinga dzeropa kuenda kuuropi kunogona kukonzera kuoma mitezo kana kurwiswa kweischemic kwenguva pfupi (TIA) .
Nzira yekuziva chirwere ichi? (Kuongororwa)
Kana chiremba wako achifungidzira kuti ane chirwere cheFabry, acharaira bvunzo dzinoverengeka kuti asimbise chirwere chacho.
- Kuedzwa kwema enzyme:Uku kuongororwa kweropa. Izvi zvinoyera huwandu hwe enzyme ye `alpha-GAL` muropa rako. Kana huwandu uhwu huri pasi pe1%, chirwere ichi chinofungidzirwa. Zvisinei, bvunzo iyi inovimbika chete kuvarume. Izvi hazvina kukodzera vakadzi, sezvo huwandu hwe enzyme dzavo hunogona kuchinja-chinja panguva dzakajairika.
- Kuongororwa kwemajini: Iyi ndiyo nzira yakanakisisa yekusimbisa chirwere. Tekinoroji yekuongorora DNA inogona kuona nemazvo kana paine shanduko, kana chikanganiso, mujini reGLA , iro rinorayira kugadzirwa kwe enzyme ye `alpha-GAL`.
- Kuongororwa kwevana vacheche: Mune dzimwe nyika, vacheche vanoongororwa zvirwere izvi.
Ndeipi mishonga yekurapa chirwere cheFabry?
Hakuna mushonga wechirwere cheFabry. Zvisinei, kune mishonga inoshanda inogona kubatsira kudzora zviratidzo uye kuderedza kuunganidzwa kwemafuta anokuvadza mumuviri. Chinangwa chikuru chemishonga iyi ndechekudzivirira chirwere chemwoyo, chirwere cheitsvo, nezvimwe zvinetso zvakakomba.
| Nzira yekurapa | Chii chinoitika kwairi? |
|---|---|
| Kurapa Kutsiva MaEnzyme (ERT) | Izvi zvinosanganisira kupa muviri enzyme inogadzirwa ne `alpha-GAL` isipo, enzyme inogadzirwa murabhoritari, kuburikidza ne IV infusion mavhiki maviri ega ega. Semuenzaniso, mishonga yakaita se agalsidase beta (Fabrazyme®) uye pegunigalsidase alfa (Elfabrio®) inoshandiswa. Kana iyi enzyme inopinda mumuviri, inotora basa re enzyme isipo uye inomisa mafuta kuti asaungane. |
| Kurapa Nemubatsiri Wemuromo | Iri ipiritsi raunotora mazuva ese. Mapiritsi anoshanda ne "kugadzirisa" enzyme yemuviri ye `alpha-GAL' isina kunaka. Iyo enzyme yakagadziriswa inokwanisa kupwanya mafuta. migalastat (Galafold®)Uyu mushonga. Asi mushonga uyu haushandi kune wese munhu. Kuti wakakodzera here kana kuti kwete zvinoenderana nekuti majini ako akachinja sei. |
Pamusoro pemishonga mikuru iyi, mishonga yakasiyana inopiwa yekurwadziwa nematambudziko emudumbu. Masayendisiti ari kugadzirawo mishonga mitsva vachishandisa tekinoroji yekugadzira majini.
Hupenyu huchava hwakaita sei nechirwere ichi? (Outlook)
Chirwere cheFabry chirwere chinoramba chichienderera mberi. Izvi zvinoreva kuti njodzi yezviratidzo nematambudziko inowedzera nekukura. Chirwere ichi chinogona kupfupisa nguva yekurarama. Paavhareji, varume vane chimiro chekare vanorarama kusvika vava kuda kusvika makore makumi mashanu uye vakadzi kusvika makore makumi manomwe.
Asi chinonyanya kukosha ndechekuti nekuwana kurapwa kwakakodzera, kunyanya nekutarisira hutano hwemwoyo neitsvo, unogona kuwedzera makore akawanda muhupenyu hwako.
Chirwere ichi chinogona kudzivirirwa kuti chisapararire kumhuri here?
Sezvo ichi chirwere chemajini, kana mumwe munhu mumhuri yako aine gene mutation ine chekuita nechirwere ichi, pane mukana wekuti vana vako vachachigara nhaka. Saka, kana iwe kana mumwe munhu mumhuri yako aine chirwere ichi, zvakakosha kusangana nevanopa mazano emajini .
Nyanzvi yakadaro inogona kutsanangura mukana wekuti vana vako vachagara nhaka yejini iri. Vanogonawo kutaura nezvesarudzo dziripo kwauri kana uchironga kuva nevana. Semuenzaniso, kune nzira inonzi Preimplantation Genetic Diagnosis (PGD) . Nzira iyi inoongorora mazai asati aendeswa kuna amai panguva yeIn Vitro Fertilization (IVF) kuti vasarudze mazai ane hutano asina majini akakanganisika.
Kana uchifanira kuona chiremba nekukasika
Kana wakaonekwa uine chirwere cheFabry uye ukaona chimwe chezviratidzo zvinotevera, enda kuna chiremba wako nekukasika kana kuenda kuchipatara chiri pedyo neEmergency Department (ETU).
- Kurwadziwa pachipfuva, kurova kwemoyo kusina kurongeka, kuoma kufema (izvi zvinogona kuva zviratidzo zvechirwere chemwoyo).
- Kuzvimba zvakanyanya kana kuchengetedza mvura mumuviri.
- Dzungu rakakomba, matambudziko ekuona, shanduko mukutaura (izvi zvinogona kuva zviratidzo zvestroke).
- Kurasikirwa nekunzwa kamwe kamwe.
- Kurwadziwa kwakanyanya mudumbu kana manyoka.
Mibvunzo inokosha yekubvunza chiremba wako
Kana waonekwa uine chirwere ichi, zvakajairika kuva nemibvunzo yakawanda. Usakanganwa kubvunza mibvunzo iyi paunoona chiremba wako.
- Ndakawana sei chirwere cheFabry?
- Ndine chirwere cheFabry cherudzii?
- Ndeipi nzira yekurapa yakandinakira?
- Ndezvipi njodzi nemigumisiro yekurapa ikoko?
- Mhuri yangu iri panjodzi yekubatwa nechirwere ichi here? Tinofanira kuongororwa majini here?
- Ndedzipi nzira dzekurapa nedzekuongororwa dzandinofanira kuramba ndichiwana?
- Ndezvipi zviratidzo zvematambudziko andinofanira kunyanya kunetseka nazvo?
Zvakajairika kunzwa kusuruvara uye kuzvidya mwoyo kana waonekwa uine chirwere cheFabry. Ungave uchinetseka nezveramangwana nevana vako. Asi yeuka, ikozvino kune mishonga inoshanda kwazvo yekugadzirisa chirwere ichi. Uye kune tsvakurudzo yakawanda iri kuitwa iyo inotipa tariro yeramangwana. Nekutevera hurongwa hwako hwekurapa uye kushanda pamwe chete nachiremba wako, unogona kudzora zviratidzo zvako, kudzivirira kukuvara kwenguva refu, uye kurarama hupenyu hunobudirira.
Mharidzo Yekuenda Nayo Kumba
- Chirwere cheFabry chirwere chisingawanzoitiki chinokonzerwa nekusakwana kwemajini kunoita kuti muviri ugadzire enzyme shoma inopwanya rudzi rwemafuta.
- Zviratidzo zvakaita sekutsva mumakumbo, kushaya ziya, mapundu paganda, uye kurwara mudumbu zvinogona kuitika.
- Kuonekwa kwechirwere ichi nekukurumidza kunogona kudzivirira kukuvara kukuru kwemoyo, itsvo, neuropi.
- Pari zvino kune mishonga inoshanda zvikuru yekutsiva ma enzyme (ERT) nemimwe mishonga yekurapa chirwere ichi.
- Sezvo ichi chiri chirwere chinogara nhaka, zvakakosha kutsvaga mazano ezvemajini kuti uzive nezvenjodzi inogona kunge iripo mumhuri.
- Gara uchitevera mirairo yachiremba wako uye uwane bvunzo nekurapwa zvinodiwa.
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