Unewo mavanga mumuviri wako wese here? Kana kuti unonzwa kuneta nguva dzese uye uine mapfupa anorwadza? Kunyange zvazvo izvi zvingaita sezvinhu zvakajairika, dzimwe nguva panogona kunge paine chirwere chisingawanzoitiki, seGaucher Disease, chatinofanira kuziva tese. Usazvidya mwoyo, tichataura nezvazvo nenzira iri nyore nhasi, nenzira yaunogona kunzwisisa.
Chii chaizvo chinonzi Gaucher Disease?
Zvichitaurwa zviri nyore, ichi chirwere chemajini chinogarwa nhaka. Kutaura chokwadi, ichi chirwere chiri muchikamu che lysosomal storage disorders (LSD). Funga nezvazvo sefekitori iri mukati memuviri wedu. Fekitori iyi inoda kubvisa zvinhu zvisingadiwe nemazvo, kureva marara. Muchirwere cheGaucher, rudzi rwakakosha rwemafuta mumuviri wedu runonzi sphingolipids haruputswe uye harubviswe nemazvo, asi panzvimbo pezvo runoungana munhengo dzakadai se bone marrow, chiropa, uye spleen.
Chii chinoitika kana mafuta akaungana seizvi?
- Kuzvimba kwenhengo: Nhengo dzakadai sechiropa nespleen dzinokura.
- Mapfupa anoshaya simba: Kana mapfupa akazara nemafuta, anoshaya simba uye anogona kutyoka zviri nyore.
Chinhu chakakosha ndechekuti kunyangwe pasina mushonga wakakwana wechirwere ichi, zvinokwanisika kudzora zviratidzo nekurapwa kwazvino uye kurarama hupenyu hwakanaka kwazvo .
Ndeapi marudzi makuru echirwere cheGaucher?
Kune mhando nhatu huru dzechirwere cheGaucher. Mhando dzese idzi dzinokanganisa nhengo dzemuviri nemapfupa. Zvisinei, dzimwe mhando dzinokanganisawo uropi. Ngatinzwisisei mhando idzi zvakajeka.
| Rudzi rwechirwere (Rudzi) | Kuti zvinokanganisa sei uye ruzivo rwakakosha |
|---|---|
| Rudzi 1 |
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| Rudzi rwechipiri |
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| Rudzi rwechitatu |
|
Sei chirwere ichi chichiitika? Chii chinokonzera?
Izvi zvinokonzerwa nekuchinja kwemajini edu (jini rekuti `GBA`). Jini iri rinotirayira kugadzira enzyme inonzi `glucocerebrosidase` (`GCase`).
MaEnzayimu mapuroteni anobatsira pakushanda kwemakemikari mumiviri yedu. Rimwe remabasa makuru eiyi enzyme ye'GCase' nderekuputsa mafuta ('sphingolipids') atambotaura nezvawo uye kuabvisa mumuviri.
Munhu ane chirwere cheGaucher haabudisi enzyme iyi yakakwana mumuviri wake. Zvadaro, pachinzvimbo chekupwanywa nekubviswa, mafuta iwayo anoungana munzvimbo dzakadai senhengo dzemuviri nemapfupa se "maGaucher cells." Kuunganidzwa uku ndiko kunokonzera matambudziko ese.
Ndiani ane mukana mukuru wekuwana chirwere ichi?
Munhu wese anogona kurwara nechirwere ichi. Zvisinei, chirwere cherudzi rwekutanga cheGaucher chinonyanya kuwanikwa pakati pevaJudha veAshkenazi. Mamwe marudzi maviri (2 ne3) haasi erudzi kana dzinza.
Ndezvipi zviratidzo zvechirwere cheGaucher?
Zviratidzo zvinosiyana kubva pamunhu kusvika pamunhu. Vamwe vanhu vanenge vasina zviratidzo, nepo vamwe vanogona kuva nezviratidzo zvakakomba zvinogona kuisa hupenyu panjodzi.
Zviratidzo zvinokanganisa nhengo dzemuviri neropa
- Kushaya ropa: Kana mupfupa wazara nemafuta, kugadzirwa kwemasero matsvuku eropa kunoderera. Kana pasina masero matsvuku eropa akakwana ekutakura okisijeni inodiwa nemuviri, unonzwa kuneta zvakanyanya. Izvi zvinonzi anemia.
- Chiropa netsandanyama zvakakura: Nhengo mbiri idzi dzinokura nekuda kwekuunganidzwa kwemafuta. Izvi zvinoita kuti dumbu ribude uye rizvimbe. Kana tsandanyama ikakura, inoparadza maplatelet, ayo anobatsira kuumba ropa.
- Kukuvara uye kubuda ropa: Nekuda kwehuwandu hushoma hwemaplatelet, kunyangwe kukuvara kudiki kunotora nguva yakareba kuti ropa rimire, zvichikonzera mavanga uye kubuda ropa mumhino. Kubuda ropa mumhino kunowanzoitikawo.
- Kuneta: Kushaya ropa kunogona kukonzera kuti unzwe kuneta uye hope nguva dzese.
- Matambudziko emapapu: Kuwanda kwemafuta mumapapu kunogona kukonzera matambudziko ekufema.
Zviratidzo zvinokanganisa mapfupa
Kana mapfupa asingagamuchire ropa, okisijeni, uye zvinovaka muviri zvaanoda, anotanga kupera simba.
- Marwadzo: Marwadzo akanyanya mumapfupa nemapfundo. Matambudziko akadai searthritis anogona kutanga.
- Osteonecrosis: Rimwe zita reizvi ndi 'avascular necrosis'. Zvichitaurwa zviri nyore, mapfupa paanoshaya okisijeni uye nyama yemapfupa ichifa.
- Mapfupa anotyoka nyore: Chirwere ichi chinokonzera chirwere chinonzi osteoporosis. Izvi zvinoreva kuti mapfupa anorasikirwa necalcium, zvichiita kuti asave nemapfupa. Kunyangwe kudonha kudiki kunogona kukonzera kuti mapfupa atyoke.
Zviratidzo zvinokanganisa uropi (zvinoshanda kumhando yechipiri neyechitatu)
- Kuomerwa nekuyamwisa uye kunonoka kukura (muvana vane rudzi rwechipiri).
- Matambudziko ekudzidza nekunzwisisa.
- Matambudziko emaziso, akadai sekutadza kufambisa maziso ako kubva kudivi kuenda kudivi.
- Matambudziko ekuenzanisa uye kubatana.
- Kubatwa nepfari uye kusvetuka-svetuka kwemuviri kamwe kamwe.
Ungaziva sei kana uine chirwere ichi?
Kana uine zviratidzo izvi, chiremba wako achatanga akuongorora uye obvunza nezvezviratidzo zvako. Zvadaro pane miedzo mikuru miviri yekusimbisa chirwere ichi:
1. Kuongororwa kweropa: Izvi zvinoyera huwandu hwe enzyme ye `GCase` muropa.
2. Kuongororwa kweDNA: Mushonga wemate kana ropa unoongororwa kuti uone kana paine shanduko yemajini inokonzera chirwere ichi.
Kana mumwe munhu mumhuri mako aine chirwere ichi uye uri kuronga kuva nevana, kuongororwa kweDNA kunogona kukuudza kana uri iye . Vane chirwere ichi havana zviratidzo, asi vana vavo vari panjodzi yekubata chirwere ichi. Zvakakosha kutaura nachiremba wako nezveizvi.
Ndeipi mishonga yekurapa chirwere cheGaucher?
Zvakare, kune mishonga inoshanda zvikuru yechirwere cheGaucher cherudzi rwekutanga. Zvisinei, hapasati pave nemushonga wekukuvara kwehuropi kunokonzerwa nemhando yechipiri neyechitatu.
Mishonga mikuru miviri yerudzi rwekutanga ndeiyi:
| Nzira yekurapa | Mashandiro Azvo |
|---|---|
| Kurapa Kutsiva MaEnzyme (ERT) | Iyi ndiyo nzira inonyanya kushandiswa. Enzyme inoshayikwa mumuviri inopinzwa netsinga kamwe chete pamavhiki maviri ega ega. Enzyme iyi inofamba nemuropa uye inopwanya mafuta anenge aungana munhengo dzemuviri. |
| Kurapa Kuderedza Substrate (SRT) | Iri ipiritsi raunonwa nemuromo. Mushonga uyu unoderedza kugadzirwa kwemafuta anokuvadza mumuviri. Ipapo haaunganidzi mafuta. |
Kurapa uku kunofanirwa kuitwa muhupenyu hwese kudzivirira kukuvara kwenhengo dzemuviri nemapfupa.
Ndinofanira kuona chiremba rini?
- Kana iwe kana mwana wako muine chimwe chezviratidzo zvatakurukura (kunyanya maronda asina kutsanangurwa, kuneta zvakanyanya, kurwadziwa kwemapfupa, uye kuzvimba mudumbu) , iva nechokwadi chekuona chiremba.
- Kana uchiziva kuti mumwe munhu mumhuri mako ane chirwere cheGaucher, zvingava zvakanaka kuti uzviongorore iwe pachako.
- Kana ukaonekwa uine chirwere ichi, zvakakosha zvikuru kuzivisa vanun'una vako nevemhuri yepedyo, sezvo vangavewo vaine chirwere ichi kana kuti vane chirwere ichi.
Zvakajairika kuti unzwe kutya uye kuzvidya mwoyo paunoziva kuti une chirwere chisingawanzoitiki sechirwere cheGaucher. Asi yeuka, ikozvino kune mishonga inoshanda zvikuru, kunyanya yerudzi rwekutanga. Nekushanda pamwe chete nachiremba wako uye kutevedzera hurongwa hwako hwekurapa, unogona kudzora zviratidzo zvako uye kurarama hupenyu hunofadza.
Mharidzo Yekuenda Nayo Kumba
- Chirwere cheGaucher chirwere chisingawanzoitiki, chinogara nhaka umo mafuta asina kunaka mumuviri anochengetwa munhengo dzemuviri nemapfupa.
- Kuneta nguva dzose, mavanga ari nyore, kurwadziwa kwemapfupa, uye kukura kwechiropa/chiropa ndizvo zviratidzo zvikuru.
- Kune mishonga inoshanda yerudzi rwakajairika, Type 1, uye zvinokwanisika kurarama hupenyu hwakajairika.
- Mhando dzechipiri nedzechitatu dzinokanganisawo uropi uye zvirwere zvakanyanya kuoma.
- Kana iwe kana mumwe munhu wemumhuri mako aine zviratidzo, zvakakosha kutsvaga rubatsiro rwechiremba nekukurumidza. Kuonekwa nekukurumidza kunogona kubatsira kudzivirira kukuvara kwenguva refu.
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