Ingabe amehlo akho abomvu ngisho nasezintweni ezincane kakhulu? Noma uzizwa ukhathele kungakhathaliseki ukuthi ulele kangakanani? Ingabe ulwa nezinto ezifana nobuhlungu bamathambo kanye nesisu esivuvukele? Kungase kube nesifo ngemuva kwalokhu esingakakuzwa okuningi ngaso, kodwa kubaluleke kakhulu ukusazi. Namuhla sikhuluma ngesifo esingavamile kodwa esingelapheki. Leso yiGaucher Disease .
Kalula nje, siyini isifo seGaucher?
Isifo iGaucher siyisifo esingavamile esibangelwa izakhi zofuzo. Uma sikhuluma iqiniso, singeseqembu lezifo ezibizwa ngokuthi i-lysosomal storage disorders (LSD) . Kulungile, igama lizwakala liyinkimbinkimbi kancane, akunjalo? Ungakhathazeki, ngizolichaza kalula.
Cabanga ukuthi ngaphakathi kwamangqamuzana omzimba wethu kukhona 'amathini kadoti' amancane abizwa ngokuthi ama-lysosome. Umsebenzi wawo ukubhidliza nokuhlanza izinto ezingafuneki, njengamafutha, anqwabelana ngaphakathi kwamangqamuzana. Esifweni se-Gaucher, umzimba awukhiqizi i-enzyme ebhidliza uhlobo olukhethekile lwamafutha abizwa ngokuthi ama-sphingolipid . Khona-ke lawo mafutha angafuneki aqala ukuqongelela ezindaweni ezifana nomnkantsha wethu wamathambo, isibindi, kanye ne-spleen.
Uma amafutha eqoqana ngale ndlela, amathambo ethu aba buthakathaka, futhi izitho ezifana nesibindi kanye ne-spleen ziyavuvukala futhi zikhule. Lezi zitho azisakwazi ukwenza imisebenzi yazo kahle. Nakuba isifo se-Gaucher singelapheki ngokuphelele, kunezindlela zokwelapha ezingasiza ekulawuleni izimpawu futhi zikuvumele ukuba uphile impilo enhle.
Kunezinhlobo ezintathu eziyinhloko zesifo seGaucher:
Isifo iGaucher asifani sonke. Sithole izinhlobo ezintathu eziyinhloko zaso. Zonke izinhlobo ezintathu zithinta amathambo nezitho zomzimba. Kodwa ezinye izinhlobo zithinta nobuchopho. Ake sibheke ukuthi ziyini lezi zinhlobo.
| Uhlobo lwesifo | Umphumela kanye nezici | Amaphuzu abalulekile |
|---|---|---|
| Uhlobo 1 lwe-Gaucher (Uhlobo 1) | Lolu uhlobo oluvame kakhulu. Luthinta ubende, isibindi, igazi, namathambo. Aluthinti ubuchopho noma uhlelo lwezinzwa. Abanye abantu banezimpawu ezincane kakhulu. Abanye bangase babe nokukhathala okukhulu, ubuhlungu bamathambo, kanye nobuhlungu besisu. | Izimpawu zingavela kunoma yimuphi ubudala, kusukela ebuntwaneni kuya ekugugeni. Ukwelashwa kungalawulwa kahle. |
| Uhlobo lwe-Gaucher 2 (Uhlobo 2) | Lolu uhlobo olungavamile kakhulu futhi olunzima. Luvela ezinganeni ezingaphansi kwezinyanga eziyisithupha ubudala. Lubangela ukuvuvukala kwe-spleen, ubunzima bokunyakaza, kanye nokulimala okukhulu kobuchopho . | Okwamanje akukho ukwelashwa kwalesi simo. Izingane ezinalesi simo zivame ukufa zingakapheli iminyaka emibili kuya kwemithathu. |
| Uhlobo lwe-Gaucher 3 (Uhlobo 3) | Nakuba kuvame emhlabeni, akuvamile emazweni afana neSri Lanka. Izimpawu zivela ngaphambi kweminyaka eyi-10. Kuthinta amathambo nezitho zomzimba, kanye nobuchopho (uhlelo lwezinzwa). | Ukwelashwa kungasiza abantu abaningi ukuba baphile baze bafike eminyakeni yabo yama-20 noma yama-30. |
Kungani kwenzeka isifo seGaucher?
Isifo iGaucher siyisifo esibangelwa ufuzo se-metabolic . Lokhu kusho ukuthi yinto esiyithola ngofuzo oluvela kubazali bethu.
Umzimba wethu unesakhi sofuzo esibizwa ngokuthi isakhi sofuzo se-GBA . Umsebenzi walesi sakhi sofuzo ukufundisa umzimba ukuthi wenze i-enzyme ebizwa ngokuthi i-glucocerebrosidase (GCase) . Ngenxa yokuguquka kwesakhi sofuzo se-GBA, umuntu onesifo se-Gaucher akakhiqizi ngokwanele le enzyme ye-GCase.
Kalula nje, lesi sifo sibangelwa ukuntuleka kwesisebenzi (i-enzyme ye-GCase) ehlanza amafutha omzimba. Ngaphandle kwalesi sisebenzi, amafutha angafuneki (amaseli e-Gaucher) ayaqoqana emzimbeni futhi abangele izinkinga.
Lokhu kuqongelela kwamafutha kuthinta ukusebenza kwezitho zomzimba, kubhubhise amaseli egazi, futhi kubuthakathaka amathambo.
Ziyini izimpawu zesifo seGaucher?
Izimpawu zesifo iGaucher zingahluka kuye ngomuntu nomuntu. Abanye abantu banezimpawu ezincane kakhulu, kanti abanye bangase babe nezinkinga ezinkulu zempilo. Ake sihlukanise lezi zimpawu zibe yizigaba eziningana.
Imiphumela ezithweni zangaphakathi nasegazini
Uma amakhemikhali anamafutha eqoqana emzimbeni, angaba nemiphumela ehlukahlukene egazini nasezithweni zakho zomzimba.
- I-anemia:Uma amafutha eqongelela emnkantsheni wethambo, amangqamuzana abomvu egazi athwala umoya-mpilo ayabhujiswa. I-anemia ibangelwa ukuntuleka kwamangqamuzana abomvu egazi.
- Izitho zomzimba ezikhulisiwe: Ubende nesibindi kuyavuvukala futhi kukhule njengoba amafutha eqoqana ngaphakathi kuzo. Lokhu kungabangela isisu ukuba sikhukhumale phambili futhi kubangele ubuhlungu. Njengoba ubende lukhula, lubhubhisa ama-platelet, asiza ukugoba kwegazi.
- Ukuphuka nokopha: Ngenxa yokubala okuphansi kwama-platelet, umzimba uyaphuka kalula (kuvela amabala egazi). Igazi alivali kahle. Kungase kube nokopha ekhaleni kanye nokopha okuqhubekayo okuvela ngisho nasenxebeni elincane.
- Ukukhathala: I-anemia ikwenza uzizwe ukhathele futhi ukhathele ngaso sonke isikhathi.
- Izinkinga zamaphaphu: Amafutha angaqongelela emaphashini futhi abangele ubunzima bokuphefumula.
Imiphumela emathanjeni
Uma amathambo engatholi igazi elanele, umoya-mpilo kanye nokudla okwanele, aba buthakathaka futhi athambekele ekuphukeni.
- Ubuhlungu: Ubuhlungu obukhulu bungenzeka ngenxa yokuncipha kokugeleza kwegazi emathanjeni. Ubuhlungu bamalunga kanye nesifo samathambo kuvamile.
- I-Osteonecrosis: Ebizwa nangokuthi i-avascular necrosis , lokhu ukufa kwezicubu zamathambo ngenxa yokuntuleka komoya-mpilo emathanjeni.
- Amathambo aphuka kalula: Isifo se-Gaucher singabangela isimo esibizwa ngokuthi i-osteoporosis (i-calcium ephansi emathanjeni, ukuncipha kwamathambo). Lokhu kungabangela ukuba amathambo aphuke ngisho noma kunokulimala okuncane.
Imiphumela ebuchosheni (izinhlobo 2 no-3 kuphela)
Ngaphezu kwezinye izimpawu, izinhlobo 2 no-3 zesifo seGaucher nazo zithinta ubuchopho.
- Uhlobo 2: Izimpawu ziyavela ezinyangeni eziyisithupha zokuqala zokuphila. Ungase ubone izinto ezifana nobunzima bokuncelisa kanye nokukhula okulibazisekile.
- Uhlobo 3: Izimpawu zivela ngaphambi kweminyaka eyi-10. Ziba zimbi kakhulu ngokuhamba kwesikhathi.
- Izimpawu ezivamile zezinzwa:
- Ubunzima bokuhambisa amehlo kusukela kolunye uhlangothi kuya kolunye
- Izinkinga ngokuhamba nokulinganisela
- Ukuquleka kanye nokudlidliza kwemisipha
Isifo sikaGaucher sitholakala kanjani?
Uma wena noma ingane yakho ninezinye zalezi zimpawu, kufanele nibone udokotela wakho nimtshele ngazo. Udokotela uzokuxilonga bese ebuza ngezimpawu zakho.
Kunezindlela ezimbili eziyinhloko zokuqinisekisa ukuba khona kwesifo seGaucher:
1. Ukuhlolwa kwegazi: Lokhu kulinganisa izinga le-enzyme ye-GCase esikhulume ngayo egazini.
2. Ukuhlolwa kwe-DNA: Lokhu kuhlolwa, okwenziwa kusampula yamathe noma egazini, kungabona ngqo ukuba khona kokuguqulwa kwezakhi zofuzo ze-GBA okubangela isifo se-Gaucher.
Into ebalulekile ukuthi abanye abantu bangabathwali balesi sifo.Kungenzeka. Okusho ukuthi, abanazo izimpawu, kodwa izingane zabo zisengozini yokuthola lesi sifo. Uma othile emndenini wakho enalesi sifo, futhi uhlela ukuba nezingane, kubaluleke kakhulu ukuthola ukwelulekwa ngofuzo.
Ingabe ikhona indlela yokwelapha isifo seGaucher?
Yebo! Kunezindlela zokwelapha eziphumelela kakhulu, ikakhulukazi zohlobo 1 lwe-Gaucher. Kodwa-ke, ayikakabi khona ikhambi lokulimala kobuchopho okubangelwa izinhlobo 2 no-3.
Kunezindlela ezimbili eziyinhloko zokwelapha.
| Indlela yokwelapha | Kwenzekani? | Indlela yokunikeza |
|---|---|---|
| Ukwelashwa Kokufaka Ama-Enzyme (ERT) | Ukuntuleka emzimbeni kudinga ukuhlinzekwa kwangaphandle kwe-enzyme ye-GCase. Le enzyme ihamba ngegazi iye ezithweni nasemathanjeni bese iphula amafutha aqongelelekile. | Ngokuvamile inikezwa ngemithambo yegazi, njenge-saline, kanye njalo emavikini amabili. |
| Ukwelashwa Kokunciphisa I-Substrate (SRT) | Lokhu kunciphisa ukukhiqizwa kwalolo hlobo lwamafutha oluyinkinga emzimbeni. Okusho ukuthi, kunciphisa inani 'lemfucumfucu' eqoqanayo. | Inikezwa njengomuthi womlomo wansuku zonke. |
Lokhu kwelashwa kumele kuthathwe impilo yonke. Uma kwelashwa kahle, umuntu onesifo sohlobo 1 angaphila impilo evamile negcwele.
Kufanele ngimbone nini udokotela?
Uma wena noma ingane yakho ninezinye zezimpawu ezishiwo kulesi sihloko, bheka udokotela womndeni wakho ngokushesha.
- Uma unomlando womndeni , okusho ukuthi uma isihlobo sakho sinesifo iGaucher, kubalulekile ukuthi uhlolwe futhi.
- Uma kutholakale ukuthi unesifo iGaucher, yazisa izingane zakini , njengoba nazo zingase zibe naso lesi sifo noma zibe yizithwali zaso.
- Uma ukhulelwe izingane futhi uzizwa sengathi usengozini, funa ukwelulekwa ngofuzo .
Kuvamile ukuzizwa wesaba futhi ukhathazekile uma ufunda ngesifo esingavamile njengesifo seGaucher. Kodwa khumbula, ukwelashwa okutholakalayo namuhla kusebenza kahle kakhulu. Into ebaluleke kakhulu ukuthola ukuxilongwa okunembile, ukusebenzisana nochwepheshe, nokulandela uhlelo lokwelashwa oluqhubekayo. Ngaleyo ndlela, ungakwazi ukulawula izimpawu zakho, uvimbele umonakalo wesikhathi eside, futhi uhlale uphilile.
Umlayezo Wokuya Nawe Ekhaya
- Isifo se-Gaucher yisifo sofuzo esidluliselwa ezizukulwaneni ngezizukulwane. Sibangelwa ukuntuleka kwe-enzyme emzimbeni.
- Kunezinhlobo ezintathu eziyinhloko, futhi kunezindlela zokwelapha ezisebenzayo zohlobo 1, oluvame kakhulu.
- Ukuphuka njalo, ukukhathala okukhulu, ubuhlungu bamathambo, kanye nesisu esikhulu kungaba yizimpawu eziyinhloko.
- Lesi sifo singahlolwa ngokunembile ngokuhlolwa kwegazi noma ukuhlolwa kwe-DNA.
- Uma wena noma othile emndenini wakho enezimpawu, khuluma nodokotela wakho ngokushesha. Uma ukwelashwa kuqala ngokushesha, umphumela uba ngcono.
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