Kuvamile ukuzizwa wesaba futhi ushaqekile lapho udokotela ekutshela ukuthi othile emndenini wakho, ikakhulukazi ingane encane, unesifo iPompe. Kuyisifo esingavamile, esibangelwa izakhi zofuzo, ngakho-ke kungokwemvelo ukukhathazeka. Kodwa ake ngikutshele, ungakhathazeki. Nakuba okwamanje kungekho ikhambi lalesi sifo, kunezindlela eziningi zokwelapha ezisebenzayo ezingasiza iziguli ziphile isikhathi eside futhi zibe nezinkinga ezimbalwa.
Ukwelashwa okuyinhloko kwesifo sePompe yi-ERT (Ukwelashwa Kokufaka I-Enzyme Replacement).
Kalula nje, isifo sikaPompe sibangelwa ukuntuleka kwe-enzyme ebalulekile kumaseli emisipha emizimbeni yethu. Uma le-enzyme ingekho, uhlobo lukashukela olubizwa ngokuthi i-glycogen luyaqongelela ngaphakathi kwamaseli, lonakalise imisipha. Cabanga ngakho sengathi kunezisebenzi ezincane ezisebenza emizimbeni yethu, bese sizibiza ngama-enzyme. Esifweni sikaPompe, lesi sisebenzi asisebenzi kahle.
Ngakho-ke, i-Enzyme Replacement Therapy (ERT) yilapho sinikeza khona i-enzyme engekho, noma isisebenzi, esivela ngaphandle komzimba. Ngenxa yalokhu, umuthi oqukethe i-enzyme yokwenziwa ebizwa ngokuthi i-`alglucosidase alfa` unikezwa umzimba ngomthambo (ukufakwa kwe-IV). Lokhu kwelashwa kuwukuphela kokwelashwa okuvunyelwe njengamanje kwesifo sePompe.
Lokhu kwelashwa kwe-ERT kuye kwandisa kakhulu isikhathi sokuphila kweziguli zasePompe, ikakhulukazi izinsana. Esikhathini esidlule, kwakungavamile ukuba ingane enalesi sifo iphile ngaphezu konyaka.
Ngaphandle kokwelashwa nge-ERT, izingane ezinesifo se-Pompe ziyaqina kancane kancane imisipha yenhliziyo yazo, zenze buthaka eminye imisipha emzimbeni wazo, bese ziyafa zingakapheli nonyaka wokuqala wokuphila. Zilahlekelwa nemisipha edingekayo ukuze ziphefumule. Ngemva kokuqala kokwelashwa nge-ERT, lesi simo sashintsha ngokuphelele. Izingane ezaqala ukuthola ukwelashwa nge-ERT manje sezineminyaka engama-20.
Kungani kubaluleke kangaka ukuqala ukwelashwa kusenesikhathi?
Lokhu kuyinto ebaluleke kakhulu. Ukwelashwa nge-ERT kungavimba lesi sifo ukuthi singabi sibi kakhulu, kodwa akukwazi ukubuyisela emuva umonakalo osuvele wenziwe emisipheni. Lokhu kusho ukuthi uma ukwelashwa kubambezeleka, ungase ulahlekelwe yikhono lokuphefumula noma lokuhamba.
Odokotela bazama ukuqala ukwelashwa kwe-ERT ezinsukwini ezimbalwa zokuqala zokuphila , ikakhulukazi ezinganeni, ngemva kokuxilonga lesi simo. Ngisho nokubambezeleka okuncane kungavimbela ingane ukuba ihambe unomphela.
Kubantu abanesifo sePompe esiqala sekwephuzile, udokotela uzohlola futhi aqaphe izimpawu njalo ukuze anqume isikhathi esingcono sokuqala i-ERT.
Lolu akulona uhambo lomuntu oyedwa - ukwesekwa okuvela eqenjini lochwepheshe
Nakuba ukwelashwa kwe-ERT kungasindisa impilo, akwanele. Ukuze kuhlinzekwe impilo engcono kakhulu kumuntu onesifo i-Pompe, kudingeka ithimba lochwepheshe abahlukahlukene. Isazi sezakhi zofuzo sezokwelapha ngokuvamile singumuntu oyinhloko ophethe ukuphathwa kokwelashwa.
Bheka ithebula elingezansi ukuthola izinhlobo zochwepheshe ezingadingeka kulokhu kanye nohlobo lokusekelwa abazolunikeza.
| Udokotela/uchwepheshe wezokwelapha | Lusizo luni abalutholayo? |
|---|---|
| Udokotela wenhliziyo | Imiphumela enhliziyweni iyaqashelwa futhi kunikezwa ukwelashwa okudingekayo. |
| Udokotela Wezifo Zamaphaphu | Bazoqapha ubunzima bokuphefumula futhi banikeze imishini yokuphefumula uma kudingeka. |
| Udokotela Wesisu | Yelapha izinkinga zokugwinya kanye nokugaya ukudla. |
| Isazi sokudla okunempilo | Nikeza ukudla okunomsoco okudingekayo ukuze kukhule kahle, futhi uma kudingeka, kunconywa ukudla okukhethekile noma ukuphakelwa ngepayipi lokuphakela. |
| Udokotela Wezokwelapha Umzimba | Kunikezwa izivivinyo kanye nokwelashwa ukuze kuqiniswe imisipha futhi kuncishiswe ubuthakathaka. |
| Uchwepheshe Wezokwelapha Emsebenzini | Ukusiza ukuba benze imisebenzi yansuku zonke (njengokugqoka, ukudla, njll.) ngokuzimela. Uma kudingeka, bafundiswa ukusebenzisa amathuluzi okusiza njengenduku. |
| Uchwepheshe Wezokukhuluma | Kusiza ukunqoba ubunzima bokukhuluma obubangelwa ubuthakathaka bemisipha yobuso neyolimi. |
Ezinye izindlela zokwelapha ngaphandle kwe-ERT
Imithi ethinta amasosha omzimba
Eminye imizimba yezingane iyaqaphela lokhu kwelashwa kwama-enzyme anikezwa ngaphandle (i-ERT) 'njengokwangaphandle' bese iqala ukwenza ama-antibodies ngokumelene nakho. Lokhu kubizwa ngokuthi isimo 'se-CRIM-negative'. Uma lokhu kwenzeka, ukwelashwa kwe-ERT ngeke kusebenze kahle.
Ukuze kuvinjelwe lokhu, odokotela baqala ukwelashwa kokuvuselela ukubekezelelana kwamasosha omzimba (ITI) . Kulokhu, kanye nokwelashwa kwe-ERT, kunikezwa imithi eminingana elawula isimiso somzimba sokuzivikela.
- I-Rituximab
- I-Methotrexate
- I-immunoglobulin efakwa emthanjeni (IVIG)
Lokho okwenziwa yile mithi “ukukhohlisa” amasosha omzimba ukuba acabange ukuthi i-ERT iyinto engeyomzimba. Khona-ke umzimba ngeke ulwe ne-ERT.
Ukwelashwa ngokomzimba kanye nokwelashwa emsebenzini
Ngenxa yokuthi ubuthakathaka bemisipha buyisici esiyinhloko sesifo sikaPompe, ukwelashwa ngokomzimba kubalulekile. Kungasiza ekuqiniseni imisipha nokugcina ukusebenza komzimba. Ukwelashwa ngokomsebenzi kungasiza nasekuthuthukiseni amakhono adingekayo ukuze kwenziwe imisebenzi yansuku zonke ngokuzimela.
Ukwelashwa kwenkulumo nokudla okunempilo
Ngenxa yokuthi imisipha edingekayo ukuhlafuna nokugwinya ukudla ingase ibe buthaka, umelaphi wenkulumo angasiza ngokuzivocavoca kokugwinya. Futhi, ipayipi lokuncelisa ngezinye izikhathi lingadingeka ukuze linikeze ingane ukudla okunomsoco okudingekayo. Uchwepheshe wezokudla anganikeza isiqondiso esidingekayo salokhu.
Indima yakho nayo ibaluleke kakhulu.
Uma uphila nesifo iPompe, igalelo lakho njengesiguli noma umzali libaluleke kakhulu.
"Into ebaluleke kakhulu engayenza kwakuwukufunda ngesifo iPompe. Sanginika ukuzethemba okukhulu nenduduzo ekuphileni naso nsuku zonke," kusho uRyan Colburn, onalesi sifo.
Ngakho-ke, kufanele usebenzisane nodokotela wakho ukuze uqonde izidingo zakho futhi uhole ekutholeni ukwelashwa okungcono kakhulu. Ungesabi ukubuza udokotela wakho noma yimiphi imibuzo onayo ngalesi sifo noma ukwelashwa.
Umlayezo Wokuya Nawe Ekhaya
- Nakuba isifo sikaPompe singelapheki ngokuphelele, ukwelashwa kwanamuhla kungasiza iziguli ukuba ziphile isikhathi eside futhi ziphile impilo engcono.
- Ukwelashwa okuyinhloko ukwelashwa kokufaka ama-enzyme esikhundleni (ERT). Lokhu kuyindlela yokwelapha esindisa impilo.
- Kubaluleke kakhulu ukuqala ukwelashwa ngokushesha okukhulu, ngoba umonakalo wemisipha awukwazi ukubuyiselwa emuva.
- Ngaphezu kwe-ERT, ukwesekwa okuvela kochwepheshe abahlukahlukene njengokwelashwa ngokomzimba, ukudla okunempilo, kanye nokwelashwa ngenkulumo kubalulekile.
- Njengesiguli noma umzali, ungathola imiphumela emihle kakhulu ngokuba nolwazi oluphelele ngalesi sifo nokusebenzisana eduze nodokotela wakho.
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