Wake wezwa ngesifo iGaucher? Mhlawumbe akunjalo. Ngoba yisifo esingavamile, akusona isifo esivamile ezweni lethu. Kodwa njengoba kuyisifo sofuzo esidluliselwa ezizukulwaneni ngezizukulwane, kubaluleke kakhulu ukuqaphela. Lesi sifo singadala izimpawu ezahlukahlukene, kusukela emathanjeni abuthakathaka kuya ekushintsheni kube luhlaza okwesibhakabhaka ngisho noma kukhona ukulimala okuncane.
Kalula nje, siyini isifo seGaucher?
Kulungile, ake sikubeke ngale ndlela. Kukhona i-enzyme ekhethekile emzimbeni wethu esiza ekuhlukaniseni nasekususeni izinhlobo ezithile zamafutha. Emzimbeni womuntu onesifo se-Gaucher, le enzyme ayisebenzi kahle. Khona-ke okwenzekayo ukuthi lezo zinhlobo zamafutha zigcinwa ezingxenyeni ezahlukene zomzimba, ikakhulukazi esibindini, esibindini, nasemnkantsheni . Lapho amafutha eqoqana ngale ndlela, kuqala ukuvela izinkinga ezahlukene zempilo.
Okwamanje akukho ukwelashwa kwalesi sifo, kodwa kuye ngohlobo lwesifo seGaucher onaso, kunezindlela zokwelapha ezinhle kakhulu zokulawula izimpawu.
Kunezinhlobo ezintathu eziyinhloko zesifo seGaucher:
1. Uhlobo 1: Lolu uhlobo oluvame kakhulu. Aluthinti uhlelo lwezinzwa. Izimpawu zingase zibe zincane kakhulu kwabanye abantu, kodwa zingaba zimbi kakhulu kwabanye. Ngezinye izikhathi kungase kungabi nazimpawu nhlobo. Kunezindlela zokwelapha ezinhle zalolu hlobo.
2. Uhlobo 2 kanye nohlobo 3: Zombili lezi zinhlobo ziyingozi kakhulu kunohlobo 1 ngoba zithinta uhlelo lwezinzwa oluphakathi, oluyingqondo kanye nomgogodla. Izingane ezinesifo sohlobo 2 ngokuvamile aziphili ngaphezu kweminyaka engu-2. Uhlobo 3 nalo luyalimaza ubuchopho, kodwa izimpawu zivela kamuva ebuntwaneni.
Yini ebangela isifo seGaucher?
Lesi akusona isifo esingadluliselwa kusuka kumuntu siye komunye njengomkhuhlane. Lesi yisimo sofuzo esiphelele esidluliselwa kusuka esizukulwaneni kuya kwesinye. Sibangelwa yiphutha ku-gene ebizwa ngokuthi i-GBA.
Cabanga nje, ingane izosithola lesi sifo kuphela uma izuza lesi sakhi sofuzo se-GBA esinokukhubazeka kokubili kunina nakuyise. Ngisho noma umuntu engenaso lesi sifo, isengaba nalesi sakhi sofuzo esinokukhubazeka emzimbeni wayo (sibe ngumthwali) futhi isidlulisele ezinganeni zayo.
Lesi sifo sivame kakhulu kubantu bozalo lwamaJuda (amaJuda ase-Ashkenazi) eMpumalanga naseMpumalanga Yurophu.
Ziyini izimpawu zalesi sifo?
Izimpawu zingahluka kakhulu kumuntu nomuntu. Ziyahlukahluka kuye ngohlobo lwesifo. Ake sibheke izimpawu ezihambisana nohlobo ngalunye.
| Uhlobo Lwesifo | Izimpawu Ezivamile |
|---|---|
| Uhlobo 1 |
|
| Uhlobo 2 (Kwabantwana abaneminyaka ephakathi kwezinyanga ezi-3-6) | |
| Uhlobo 3 (Kuqala ebuntwaneni) | |
| I-Cardiovascular Gaucher (Uhlobo 3c) (Uhlobo olungavamile) |
Ungasithola kanjani lesi sifo?
Uma uya kudokotela onalezi zimpawu, angase akubuze imibuzo efana nalokhu:
- Uqale nini ukuqaphela izimpawu?
- Umndeni wakho uvela kuluphi uhlobo lohlanga?
- Ingabe ukhona ezizukulwaneni zangaphambilini zomndeni owake waba nezinkinga zempilo ezinjengalezi?
- Ingabe kukhona izihlobo zakho noma imindeni yakho eke yaba nezingane ezingaphansi kweminyaka emibili ubudala ezishonile?
Uma udokotela wakho esola ukuthi unesifo iGaucher, angakuqinisekisa ngokuhlolwa kwegazi noma ukuhlolwa kwamathe . Kuzodingeka futhi ukuba bahlolwe njalo ukuze baqaphe inqubekela phambili yesifo.
Ngaphezu kwalokho, kungenziwa i-MRI scan ukuhlola ukuvuvukala kwesibindi noma udende, kanye nokuhlolwa kokuqina kwamathambo ukuhlola ukuqina kwamathambo.
Yiziphi izindlela zokwelapha isifo seGaucher?
Izinketho zokwelapha zincike ohlotsheni lwesifo kanye nobukhali bezimpawu. Uma izimpawu zincane kakhulu, kungase kungabi khona ukwelashwa okudingekayo.
Izindlela zokwelapha eziyinhloko
- Ukwelashwa Kokufaka I-Enzyme (ERT): Lokhu kuyindlela yokwelapha eyinhloko kwabanye abantu abanesifo sikashukela sohlobo 1 nohlobo 3. Lokhu kuhilela ukunikeza umzimba i-enzyme enganele. Lo muthi unikezwa nge-intravenously (IV) cishe kanye njalo emavikini amabili. Uyasiza ekunciphiseni i-anemia, uqinise amathambo, futhi welaphe i-spleen ekhulisiwe nesibindi. Kodwa-ke, lokhu kwelashwa akusebenzi kahle ezinkingeni zesimiso sezinzwa ezithinta ubuchopho. I-`Imiglucerase (Cerezyme)` kanye ne-`Velaglucerase alfa (VPRIV)` yimithi yalolu hlobo.
- Ukwelashwa Kokunciphisa Ama-Substrate (SRT): Lawa amaphilisi alawula ukukhiqizwa kwamafutha anqwabelana emzimbeni wesifo iGaucher. I-Eliglustat (Cerdelga) kanye ne-Miglustat (Zavesca) yimithi enjalo. Inikezwa iziguli ezindala zohlobo 1 ezingafanele ukwelashwa nge-ERT.
Okubaluleke kakhulu, okwamanje alikho ikhambi elingavimba ukulimala kobuchopho okubangelwa isifo sikashukela sohlobo lwesithathu, kodwa abacwaningi bayaqhubeka nokusebenza kukho.
Ezinye izindlela zokwelapha ezisekelayo
- Ukumpontshelwa igazi ngenxa ye-anemia
- Imithi yokuqinisa amathambo nokunciphisa ubuhlungu
- Ukuhlinzwa kokushintsha amalunga ukuze kuthuthukiswe ukuhamba
- Ukuhlinzwa kokususa ubende okhulisiwe
- Imithi yokulawula ubuhlungu
- Ukuthatha izakhamzimba ezengeziwe njengevithamini D ne-calcium uma kunconywa udokotela wakho
Ukuphila nalesi sifo nokuthi yini ongayilindela
Ngenxa yokuthi lesi sifo sihlukile kumuntu ngamunye, udinga ukusebenzisana eduze nodokotela wakho ukuze uthole uhlelo lokwelashwa olukufanele. Ukwelashwa kungakusiza ukuthi uphile kangcono futhi kwandise impilo yakho.
Ingane enesifo iGaucher ingase ikhule kancane kunezinye izingane. Kungenzeka futhi ukuthi ithombeke kancane. Kuye ngezimpawu, kungadingeka ugweme imisebenzi efana nemidlalo yokuxhumana. Abanye abantu kungadingeka benze umzamo owengeziwe wokuhlala bematasa ngenxa yobuhlungu obukhulu nokukhathala.
Ukuphila nesimo esifana nalesi kuyinselele, ngakho-ke kubaluleke kakhulu ukufuna ukwesekwa emndenini nakubangane, kanye nokwelulekwa kwengqondo uma kudingeka.
Umlayezo Wokuya Nawe Ekhaya
- Isifo iGaucher yisifo sofuzo esidluliselwa ezizukulwaneni ngezizukulwane, hhayi isifo esidluliselwa kusuka komunye umuntu siye komunye.
- Izimpawu zingahluka kakhulu kuye ngohlobo lwesifo kanye nomuntu ngamunye. Kwabanye abantu, izimpawu zincane kakhulu.
- Kubaluleke kakhulu ukuxilonga lesi sifo bese uqala ukwelashwa kusenesikhathi.
- Nakuba kunezindlela zokwelapha eziphumelela kakhulu (i-ERT ne-SRT) zohlobo 1 kanye nezinye izici zohlobo 3, lesi sifo asikwazi ukuphulukiswa ngokuphelele.
- Uma wena noma ingane yakho ninalesi sifo, kubalulekile ukulandela uhlelo lokwelashwa olufanele ngokusebenzisana eduze nodokotela wakho.
- Ukuthola ukwesekwa emndenini kanye namaqembu okusekelana kuyimbangela enkulu yamandla engqondo.
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