Maziso ako anotsvuka here kubva kuzvinhu zvidiki diki? Kana kuti unonzwa kuneta zvisinei nekuti wakarara zvakadii? Unonetseka nezvinhu zvakaita sekurwadziwa kwemapfupa nedumbu rakazvimba here? Panogona kunge paine chirwere chiri shure kweizvi chatisati tanzwa zvakawanda nezvacho, asi zvakakosha kuziva. Nhasi tiri kutaura nezvechimwe chirwere chisingawanzoitiki asi chinorapika. Ichi chirwere cheGaucher .
Zvichitaurwa zviri nyore, chii chinonzi chirwere cheGaucher?
Chirwere cheGaucher chirwere chisingawanzoitiki chemajini. Kutaura chokwadi, chiri muboka rezvirwere zvinonzi lysosomal storage disorders (LSD) . Zita racho rinonzwika serakaoma, handiti? Usazvidya moyo, ndicharitsanangura zviri nyore.
Fungidzira kuti mukati memasero emuviri wedu mune magaba madiki emarara anonzi lysosomes. Basa rawo nderekupwanya nekuchenesa zvinhu zvisingadiwe, zvakaita semafuta, anoungana mukati memasero. Muchirwere cheGaucher, muviri haugadzi enzyme inopwanya rudzi rwakakosha rwemafuta anonzi sphingolipids . Ipapo mafuta iwayo asingadiwe anotanga kuungana munzvimbo dzakadai semabhonzo edu, chiropa, uye spleen.
Kana mafuta akaungana nenzira iyi, mapfupa edu anoshaya simba, uye nhengo dzakadai sechiropa netsandanyama dzinozvimba uye dzinokura. Nhengo idzi hadzichakwanise kuita mabasa adzo nemazvo. Kunyange hazvo chirwere cheGaucher chisingarapike zvachose, kune mishonga inogona kubatsira kudzora zviratidzo uye kukubvumira kurarama hupenyu hwakanaka.
Kune marudzi matatu makuru echirwere cheGaucher:
Chirwere cheGaucher hachina kufanana. Taona mhando nhatu huru dzacho. Mhando dzose nhatu dzinokanganisa mapfupa nenhengo dzemuviri. Asi dzimwe mhando dzinokanganisawo uropi. Ngatitarisei kuti mhando idzi ndedzipi.
| Rudzi rwechirwere | Mhedzisiro uye hunhu | Pfungwa dzakakosha |
|---|---|---|
| Gaucher rudzi 1 (Rudzi 1) | Rudzi urwu ndirwo rwakanyanya kuwanda. Runokanganisa chiropa, ropa, nemapfupa. Harukanganisi uropi kana tsinga. Vamwe vanhu vane zviratidzo zvishoma. Vamwe vanogona kuneta zvakanyanya, kurwadziwa kwemapfupa, uye kurwadziwa mudumbu. | Zviratidzo zvinogona kuonekwa pazera ripi zvaro, kubva paudiki kusvika pakukwegura. Kurapwa kunogona kudzorwa zvakanaka. |
| Gaucher rudzi rwechipiri (Rudzi rwechipiri) | Ichi chimiro chisingawanzoitiki uye chakanyanya kuoma. Chinoitika kuvana vari pasi pemwedzi mitanhatu. Chinokonzera kukura kwepleen, kuoma kufamba, uye kukuvara kwakanyanya kweuropi . | Parizvino hapana mushonga wechirwere ichi. Vana vane chirwere ichi vanowanzofa mukati memakore maviri kusvika matatu. |
| Gaucher rudzi rwechitatu (Rudzi rwechitatu) | Kunyangwe zvichiwanikwa pasi rose, hazviwanzoitika munyika dzakadai seSri Lanka. Zviratidzo zvinoonekwa vasati vasvitsa makore gumi. Zvinokanganisa mapfupa nenhengo dzemuviri, pamwe neuropi (tsinga). | Kurapwa kunogona kubatsira vanhu vazhinji kurarama kusvika vava nemakore ekuma20 kana ku30. |
Sei chirwere cheGaucher chichiitika?
Chirwere cheGaucher chirwere chinogara nhaka chemetabolic function . Izvi zvinoreva kuti chinhu chatinowana kuburikidza nemajini kubva kuvabereki vedu.
Muviri wedu une jini rinonzi GBA gene . Basa rejini iri nderekudzidzisa muviri kugadzira enzyme inonzi glucocerebrosidase (GCase) . Nekuda kwekuchinja kwejini reGBA, munhu ane chirwere cheGaucher haagadzire enzyme iyi yeGCase yakakwana.
Zvichitaurwa zviri nyore, chirwere ichi chinokonzerwa nekushaikwa kwemushandi (GCase enzyme) anochenesa mafuta emuviri. Pasina mushandi uyu, mafuta asingadiwe (Gaucher cells) anoungana mumuviri uye anokonzera matambudziko.
Kuunganidzwa uku kwemafuta kunokanganisa mashandiro enhengo dzemuviri, kunoparadza masero eropa, uye kunoshayisa simba mapfupa.
Ndezvipi zviratidzo zvechirwere cheGaucher?
Zviratidzo zvechirwere cheGaucher zvinogona kusiyana kubva pamunhu kusvika pamunhu. Vamwe vanhu vane zviratidzo zvisina kunyanya kuoma, nepo vamwe vangave nematambudziko makuru ehutano. Ngatikamurai zviratidzo izvi muzvikamu zvakasiyana-siyana.
Mhedzisiro panhengo dzemukati neropa
Kana makemikari ane mafuta akaungana mumuviri, anogona kukanganisa ropa rako nenhengo dzemuviri zvakasiyana-siyana.
- Kushaya ropa:Kana mafuta aungana mumongo wemapfupa, masero matsvuku eropa anotakura okisijeni anoparadzwa. Kushaya ropa kunokonzerwa nekushaikwa kwemasero matsvuku eropa.
- Nhengo dzemuviri dzakakura: Chiropa nechiropa zvinozvimba uye zvinokura sezvo mafuta anoungana mukati mazvo. Izvi zvinogona kukonzera kuti dumbu rizvimbe mberi uye zvichikonzera kurwadziwa. Chiropa pachinokura, chinoparadza maplatelet, ayo anobatsira kuumba ropa.
- Kukuvara uye kubuda ropa: Nekuda kwehuwandu hushoma hwemaplatelet, muviri unokuvara zviri nyore (madonhwe eropa anoonekwa). Ropa harigwambi zvakanaka. Kubuda ropa mumhino uye kubuda ropa nguva dzose kubva kuronda diki kunogona kuitika.
- Kuneta: Kushaya ropa kunoita kuti unzwe kuneta uye kuneta nguva dzese.
- Matambudziko emapapu: Mafuta anogona kuungana mumapapu zvokonzera matambudziko ekufema.
Mhedzisiro pamapfupa
Kana mapfupa asingawani ropa rakakwana, okisijeni, uye zvinovaka muviri, anoshaya simba uye anogona kutyoka.
- Marwadzo: Marwadzo akanyanya anogona kuitika nekuda kwekudzikira kweropa rinoyerera kuenda kumapfupa. Marwadzo emajoini nearthritis zvirwere zvinowanzoitika.
- Osteonecrosis: Inonziwo avascular necrosis , iyi inyaya yekufa kwemapfupa nekuda kwekushaikwa kweokisijeni kumapfupa.
- Mapfupa anotyoka nyore: Chirwere cheGaucher chinogona kukonzera chirwere chinonzi osteoporosis (calcium shoma mumapfupa, kutetepa kwemapfupa). Izvi zvinogona kukonzera kuti mapfupa atyoke kunyangwe kana paine kukuvara kudiki.
Mhedzisiro pauropi (mhando 2 ne3 chete)
Kuwedzera kune zvimwe zviratidzo, mhando yechipiri neyechitatu dzechirwere cheGaucher dzinokanganisawo uropi.
- Rudzi rwechipiri: Zviratidzo zvinoonekwa mukati memwedzi mitanhatu yekutanga yehupenyu. Unogona kuona zvinhu zvakaita sekuomerwa nekuyamwisa uye kunonoka kukura.
- Rudzi rwechitatu: Zviratidzo zvinoonekwa vasati vasvitsa makore gumi. Zvinowedzera kuipa nekufamba kwenguva.
- Zviratidzo zvepfungwa zvinowanzoonekwa:
- Kuomerwa nekufambisa maziso kubva kurutivi kuenda kurutivi
- Matambudziko ekufamba nekuenzanisa
- Kubatwa nepfari uye kugwinha kwetsandanyama
Chirwere cheGaucher chinoonekwa sei?
Kana iwe kana mwana wako muine chimwe chezviratidzo izvi, munofanira kuona chiremba wenyu movaudza nezvazvo. Chiremba achakuongororai uye achakubvunzai nezvezviratidzo zvenyu.
Kune nzira mbiri huru dzekusimbisa kuvapo kwechirwere cheGaucher:
1. Kuongororwa kweropa: Izvi zvinoyera huwandu hweGCase enzyme yatakataura nezvayo muropa.
2. Kuongororwa kweDNA: Kuongororwa uku, kunoitwa pamuenzaniso wemate kana ropa, kunogona kuona zvakananga kuvapo kweGBA gene mutation inokonzera chirwere cheGaucher.
Chinhu chakakosha ndechekuti vamwe vanhu vanotakura chirwere ichi.Zvinogoneka. Kureva kuti, havana zviratidzo, asi vana vavo vari panjodzi yekubata chirwere ichi. Kana mumwe munhu mumhuri yako aine chirwere ichi, uye uri kuronga kuva nevana, zvakakosha kuti uwane mazano ezvemajini.
Pane mushonga wekurapa chirwere cheGaucher here?
Ehe! Kune mishonga inoshanda zvikuru, kunyanya yeGaucher type 1. Zvisinei, hapasati pave nemushonga wekukuvara kwehuropi kunokonzerwa nerudzi rwechipiri nerwechitatu.
Kune nzira mbiri huru dzekurapa.
| Nzira yekurapa | Chii chiri kuitika? | Maitiro ekupa |
|---|---|---|
| Kurapa Kutsiva MaEnzyme (ERT) | Kushaikwa kwe enzyme yeGCase mumuviri kunoda kuti enzyme iyi iende kunze. Iyi enzyme inofamba neropa ichienda kunhengo dzemuviri nemapfupa uye inopwanya mafuta anenge aunganidzwa. | Inowanzo pihwa nemutsinga, semushonga wesaline, kamwe chete pamavhiki maviri ega ega. |
| Kurapa Kuderedza Substrate (SRT) | Izvi zvinoderedza kugadzirwa kwemafuta ane dambudziko mumuviri. Kureva kuti, zvinoderedza huwandu hwe'marara' anoungana. | Inopihwa semushonga unonwiwa zuva nezuva. |
Kurapwa uku kunofanira kuitwa kweupenyu hwese. Kana munhu ane chirwere cherudzi rwekutanga akarapwa nemazvo, anogona kurarama hupenyu hwakajairika uye hwakazara.
Ndinofanira kuona chiremba rini?
Kana iwe kana mwana wako muine chimwe chezviratidzo zvataurwa munyaya ino, kurumidza kuona chiremba wemhuri yenyu.
- Kana uine nhoroondo yemhuri , zvichireva kuti kana hama yako iine chirwere cheGaucher, zvakakosha kuti uongororwewo.
- Kana ukaonekwa uine chirwere cheGaucher, udza vakoma vako , sezvo vangavewo vaine chirwere chacho kana kuti vane chirwere chacho.
- Kana uri kutarisira vana uye uchinzwa kuti uri panjodzi, tsvaga mazano ezvemajini .
Zvakajairika kuti unzwe kutya uye kunetseka paunodzidza nezvechirwere chisingawanzoitiki sechirwere cheGaucher. Asi yeuka, marapirwo aripo nhasi anoshanda zvikuru. Chinhu chakakosha ndechekuwana chirwere chakarurama, kushanda nachiremba, uye kutevedzera hurongwa hwekurapa hwakarongeka. Nenzira iyi, unogona kudzora zviratidzo zvako, kudzivirira kukuvara kwenguva refu, uye kuramba uine hutano hwakanaka.
Mharidzo Yekuenda Nayo Kumba
- Chirwere cheGaucher chirwere chinopfuudzwa kubva kumarudzi kusvika kumarudzi. Chinokonzerwa nekushaikwa kweenzyme mumuviri.
- Kune mhando nhatu huru, uye kune nzira dzinoshanda dzekurapa rudzi rwekutanga, irwo rwunonyanya kushandiswa.
- Kugara uchikwenya maronda, kuneta zvakanyanya, kurwadziwa kwemapfupa, uye dumbu rakakura zvinogona kunge zviri zviratidzo zvikuru.
- Chirwere ichi chinogona kuongororwa nemazvo kuburikidza neropa kana DNA test.
- Kana iwe kana mumwe munhu wemumhuri mako aine zviratidzo, taura nachiremba wako nekukurumidza. Kana kurapwa kukatanga nekukurumidza, mhedzisiro yacho inova nani.
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