Unonzwa sekuti nhengo dzako dziri kungopisa kana kuti dziri kurwadza here? Dzimwe nguva unonzwa kuneta zvakanyanya kunyangwe mushure mekuita mabasa madiki here? Kunyange zvazvo izvi zvingaita sezvinhu zvakajairika, dzimwe nguva panogona kunge paine chirwere chemajini chisingawanzoitiki chiri shure kweizvi, senge Fabry Disease. Ungave usina kana kumbonzwa nezvezita iri. Asi zvakakosha kuziva nezvazvo. Ngatitaurei nezvazvo nhasi.
Zvichitaurwa zviri nyore, chii chinonzi Fabry Disease?
Chirwere cheFabry chirwere chinowanikwa mumajini edu. Hazviwanzoitiki. Zvichitaurwa zviri nyore, munhu ane chirwere ichi haagadzire enzyme inonzi alpha-galactosidase A (alpha-GAL kana tichitsanangura) nemazvo.
Zvino ungave uchishamisika kuti iyi enzyme chii. Iyi enzyme imhando yeprotein inobatsira mukuita kwakasiyana-siyana kwemakemikari mumuviri wedu. Basa guru reiyi enzyme yealpha-GAL nderekuputsa rudzi rwemafuta anonzi sphingolipids mumuviri wedu, kureva kuti, kuagaya nekuabvisa mumuviri.
Fungidzira, chii chinoitika kana muunganidzi wemarara akasauya kumba kwedu kwemazuva? Marara anoungana mumba mese, handiti? Ndizvo zvinoitika. Kana enzyme ye alpha-GAL isipo, rudzi rwemafuta anonzi sphingolipids runotanga kuungana mutsinga dzeropa nematishu edu. Kuunganidzwa uku kunogona kukuvadza mwoyo wedu, itsvo, uropi, tsinga, neganda. 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 (Rudzi) | Tsananguro |
|---|---|
| Rudzi rwekare | Murudzi urwu, zviratidzo zvinotanga muhudiki kana kuyaruka. Dzimwe nguva, zviratidzo zvakaita sekuzvimba kwemaoko netsoka zvinogona kutanga pazera remakore maviri. Zviratidzo zvinozowedzera zvishoma nezvishoma nekufamba kwenguva. |
| Rudzi rwekutanga kunonoka/rusingawanzoitiki | Vanhu vane rudzi urwu vanogona kusaratidza zviratidzo kusvika vava nemakore makumi matatu kana kupfuura. Dzimwe nguva chirwere ichi chinotanga kuonekwa mushure mekunge pave nechirwere chakakomba, chakadai sekutadza kushanda kweitsvo kana chirwere chemwoyo. |
Chirwere cheFabry chinokura sei? Chinoberekwa nhaka here?
Ehe, ichi chirwere chinogara nhaka zvachose. Majini edu ari pazvinhu zvinonzi machromosome. Jini risina kunaka rinokonzera chirwere ichi riri paX chromosome .
Vakadzi vane machromosome maviri eX (XX) ukuwo varume vane chromosome imwe yeX nechromosome imwe yeY (XY). Musiyano uyu unokanganisawo mapfuurirwo echirwere ichi kubva kuchizvarwa kuenda kune chimwe.
Ngatinzwisise zviri nyore:
- Kana baba vane chirwere cheFabry:
- Vanasikana vake vese vanogara nhaka iyi X chromosome isina kunaka. Izvi zvinoreva kuti vanasikana vake vese vane mukana wekuwana chirwere ichi.
- Asi nekuda kwekuti vanakomana vanogara nhaka chromosome yeY kubva kumadzibaba avo, vanakomana havagari nhaka yechirwere ichi kubva kumadzibaba avo.
- Kana amai vane chirwere cheFabry:
- Nekuti amai vane ma chromosome maviri eX, mwana wavo mumwe nemumwe (angave mwanasikana kana mwanakomana) ane mukana we50% wekugara nhaka chromosome yeX isina kunaka. Izvi zvinoreva kuti vamwe vana vanogona kunge vaine chirwere ichi, uye vamwe vangasava nacho.
Ndezvipi zviratidzo zvechirwere cheFabry?
Zviratidzo zvinogona kusiyana kubva pamunhu nemunhu. Varume vanowanzova nezviratidzo zvakakomba kupfuura vakadzi. Vamwe vakadzi vanogona kunge vaine zviratidzo zvishoma kana kuti vasina zvachose.
Aya ndiwo zviratidzo zvakajairika:
- Kunzwa kusanzwa, kuvaviwa, kana kurwadziwa kwakanyanya mumaoko netsoka .
- Kurwadziwa zvakanyanya panguva yekurovedza muviri kana kuita zvimwe zvinhu.
- Kusashivirira kutonhora kana kupisa.
- Kudzikira kwedikita (hypohidrosis) kana kusadikita zvachose (anhidrosis).
- Matambudziko emudumbu akadai sekurwadziwa mudumbu, manyoka, uye kuvimbiwa.
- Dzungu.
- Zviratidzo zvakafanana nezvefuruu, zvakaita sefivha, kurwadziwa kwemuviri, uye kuneta.
- Kunzwa kana kurira munzeve (tinnitus).
- Mapundu madiki matsvuku-pepuru (angiokeratomas) anoonekwa paganda rechipfuva, musana, uye nzvimbo yesikarudzi.
- Kuzvimba (edema) kwemakumbo, zvitsitsinho, netsoka.
- Kuwedzera kwehuwandu hweprotein muweti (proteinuria).
- Patani yakakosha (cornea verticillata) inokura mukati meziso. Izvi hazvikanganisi kuona. Inogona kuonekwa chete nekuongorora maziso kwakakosha (slit lamp exam).
Matambudziko ane njodzi anogona kuitika nekuda kwechirwere ichi
Rudzi rwemafuta rwataurwa pamusoro apa (sphingolipids) runogona kuungana mumuviri kwemakore mazhinji uye runogona kukuvadza nhengo dzedu huru. Izvi zvinogona kukonzera matambudziko anogona kutoisa hupenyu panjodzi.
- Zvirwere zvemwoyo: kurova kwemoyo kusina kurongeka (arrhythmia), kurwara kwemoyo, kukura kwemoyo, uye kutadza kushanda kwemoyo.
- Kutadza kushanda kweitsvo: Nekufamba kwenguva, dialysis kana kutoisirwa itsvo zvinogona kudiwa.
- Kurohwa: Kurohwa kana kurwiswa kweischemic kwenguva pfupi (TIA) kunogona kuitika nekuda kwekuvharika kwetsinga dzeropa kuenda kuuropi.
- Kukuvadzwa kwetsinga (peripheral neuropathy).
Nzira yekuziva sei chirwere ichi?
Kana uine zviratidzo zvakaita seizvi, chiremba wako anogona kufungidzira chirwere ichi uye anogona kukutumira kunoongororwa kakawanda.
| Bvunzo | Tsananguro |
|---|---|
| Kuyedzwa kweEnzime | Iyi bvunzo yeropa. Inoyera mashandiro e alpha-GAL enzyme muropa rako. Iyi bvunzo yakanyatsojeka kuvarume, asi haisi chaiyo kuvakadzi. |
| Kuongororwa kwemajini | Iyi ndiyo bvunzo inonyanya kujeka. Kuongororwa kweDNA kunogona kuona kana paine shanduko mujini reGLA rinokonzera chirwere ichi. |
Ndezvipi zviri kurapwa?
Hapana mushonga wechirwere cheFabry parizvino. Asi usarasikirwa netariro. Iye zvino kune mishonga inoshanda zvikuru inogona kudzora zviratidzo, kunonoka kuunganidzwa kwemafuta mumuviri, uye kudzivirira matambudziko akakomba.
Kune nzira mbiri huru dzekurapa:
1. Kurapa Kutsiva MaEnzyme (ERT)
Izvi zvinosanganisira kukupa shanduro ye alpha-GAL enzyme yakagadzirwa murabhoritari, iyo muviri wako usingagadzire. Mushonga uyu unopihwa semushonga wemutsinga, semushonga wesaline, mavhiki maviri ega ega.Kurapa uku kunomisa kuunganidzwa kwemafuta mumuviri.
2. Kurapa Nemubatsiri Wemuromo
Iri ipiritsi raunotora. Mushonga uyu unoshanda nekugadzirisa enzyme yealpha-GAL isina kunaka mumuviri wako uye woita kuti ishande zvakare. Zvisinei, kurapwa uku hakushandi kune wese munhu. Zvinoenderana nemhando yekuchinja kwemajini ako. Chiremba wako ndiye achasarudza kana izvi zvakakunakira.
Kuwedzera kune aya marapirwo makuru, mishonga yakasiyana inogona kupihwa yekurwadziwa, kurwadziwa kwemudumbu, nezvimwe zviratidzo.
Unofanira kuona chiremba rini?
Kana wakaonekwa uine chirwere cheFabry, unofanira kuonana nachiremba wako nekukasika kana ukaona chimwe chezviratidzo zvinotevera:
- Zviratidzo zvechirwere chemwoyo zvakaita sekurwadziwa pachipfuva, kushaya mweya, uye kurova kwemoyo kusina kurongeka (kana izvi zvikaitika, enda kuchipatara kuEmergency Department (ETU) nekukasika).
- Kuzvimba zvakanyanya.
- Zviratidzo zvekuoma mitezo zvakaita sedzungu rakanyanya, kuchinja kwekuona, uye kuoma kutaura (enda kuETU nekukasika kana zvakadaro).
- Kurasikirwa nekunzwa kamwe kamwe.
- Kurwadziwa kwakanyanya mudumbu kana kuzvimba.
Zvakajairika kunzwa kutya uye kuzvidya mwoyo kana waonekwa uine chirwere cheFabry. Ungave uine zvinokunetsa nezveramangwana rako nevana vako. Zvisinei, mishonga inoshanda yave kuwanikwa uye tsvakurudzo itsva iri kuuya. Nekutevera hurongwa hwako hwekurapa uye kushanda pamwe chete nachiremba wako, unogona kudzora zviratidzo zvako uye kudzivirira kukuvara kwenguva refu.
Mharidzo Yekuenda Nayo Kumba
- Chirwere cheFabry chirwere chisingawanzoitiki (chinowanikwa kubva kumarudzi akasiyana-siyana).
- Kuunganidzwa kwemafuta mumuviri kunogona kukanganisa nhengo dzakadai semwoyo, itsvo, neuropi.
- Zviratidzo zvakaita sekutsva mumakumbo, kuneta zvakanyanya, mapundu eganda, uye kushaya ziya ndizvo zvinonyanya kukonzera.
- Kunyange hazvo pasina mushonga wakakwana weizvi, kurapwa nemaenzayimu nemimwe mishonga zvinogona kudzora chirwere ichi uye kuwedzera hupenyu hwacho.
- Kana iwe kana mumwe munhu wemumhuri mako aine zviratidzo izvi, zvakakosha zvikuru kutsvaga rubatsiro rwechiremba nekukasika.
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