Uma wena noma othile omaziyo enesifo sikaFabry, kungenzeka ukuthi uke wezwa ngomuthi obizwa ngokuthi iGalafold. Ngumuthi wokuqala nowodwa ophuzwa ngomlomo wesifo sikaFabry. Ezinye izindlela zokwelapha isifo sikaFabry, njengokwelashwa kokushintsha ama-enzyme , zinikezwa ngomjovo. IGalafold uhlobo lokwelashwa "oluhambisana ne-chaperone" olusebenza ngendlela ehluke ngokuphelele. Ayisebenzi kuzo zonke izinhlobo zesifo sikaFabry. Kodwa-ke, ingaba usizo kakhulu kubantu abanezinguquko ezithile ku-gene ebangela lesi sifo.
Iyini isifo sikaFabry? Isebenza kanjani iGalafold?
Kalula nje, isifo sikaFabry siyisifo esingavamile esidluliselwa kusuka kumzali kuya enganeni. Abantu abanesifo sikaFabry bane-enzyme ebizwa ngokuthi i-alpha-galactosidase A (alpha-gal) emizimbeni yabo. Kodwa le enzyme ayisebenzi kahle. Lokhu kungenxa yokuthi kukhona ukuguquka kwezakhi zofuzo okutshela ukuthi zenze le enzyme.
I-Alpha-gal iyi-enzyme ebaluleke kakhulu etholakala emaseli amaningi emzimbeni wethu. Umsebenzi wayo oyinhloko ukuphula into enamafutha ebizwa nge- GL-3 . Ngakho-ke, uma le enzyme ingasebenzi kahle, into ebizwa nge-GL-3 iqala ukuqongelela ngaphakathi kwamaseli omzimba. Ngokuhamba kwesikhathi, lokhu kuqongelela kungabangela umonakalo omkhulu ezingxenyeni ezibalulekile zomzimba, njengezinso , inhliziyo , isikhumba, ubuchopho kanye nesistimu yezinzwa .
Kunezinhlobo ezimbili eziyinhloko zesifo sikaFabry.
| Uhlobo lwesifo (Uhlobo) | Incazelo kanye nezimpawu |
|---|---|
| Uhlobo lwakudala | Lolu uhlobo olubi kakhulu lwalesi sifo. Izimpawu zivame ukuvela ebuntwaneni. Ungase uzwe ubuhlungu, njengokusha kanye nokuba ndikindiki ezandleni nasezinyaweni, izinkinga zesisu kanye nokugaya ukudla, kanye namabala esikhumba abomvu-onsomi phakathi kwenkaba namadolo. Abanye abantu bangase babe nokujuluka okunciphile, isikhumba esomile, kanye nokuzwela okukhulu ekushiseni. |
| Uhlobo lokuqala kwesikhathi | Lolu uhlobo oluvame kakhulu lwesifo sikaFabry. Luthambile kunesimo sakudala. Nakuba lesi sifo sikhona kusukela ekuzalweni, izimpawu azibonakali ebuntwaneni. Kunalokho, izimpawu ziqala ukuvela eminyakeni yama-30 noma kamuva. |
Njengoba abantu abanesifo sikaFabry bekhula, i-GL-3 iyaqhubeka nokuqongelela emaseli abo. Lokhu kungaholela ezinkingeni ezinkulu zempilo ngokuhamba kwesikhathi. Abantu abaningi baba nezinkinga zezinso, okungagcina kuholele ekuhlulekeni kwezinso . Lesi sifo singalimaza nenhliziyo nemithambo yegazi , sandise ingozi yokuhlaselwa yinhliziyo noma isifo sohlangothi.
Umgomo oyinhloko wokwelapha isifo sikaFabry ukunikeza umzimba i-enzyme esebenzayo ethi 'alpha-gal'. Nakuba lokhu kungawushintshi umonakalo osuvele wenzeke, kusiza ukuvimbela umonakalo wesikhathi esizayo.
Abantu abaningi banikezwa i-Enzyme Replacement Therapy (ERT) ngalokhu. Lokhu kuhilela ukufaka i-enzyme esebenza kahle ekhiqizwa ngaphandle emzimbeni. Umzimba ube usukwazi ukusebenzisa leyo enzyme ukuphula i-GL-3.
Kodwa-ke, iGalafold isebenza ngendlela ehluke ngokuphelele. Isithako esisebenzayo kuGalafold umuthi obizwa ngokuthi `migalastat`. Okwenzayo ukuthi, unamathela ku-enzyme ethi `alpha-gal` ekhona emzimbeni wesiguli, kodwa ayizinzile. Cabanga ukuthi i-enzyme ethi `alpha-gal` emzimbeni wakho 'ivuvukile' kancane, 'ayizinzile'. Ngakho-ke, ayikwazi ukusebenza kahle. Lokho umuthi obizwa ngokuthi iGalafold okwenzayo, njengomngani, unamathela kule enzyme ethi 'ivuvukile' futhi 'uyiqinise'. Khona-ke leyo enzyme ingenza umsebenzi wayo kahle. Yilokhu esikubiza ngokuthi "Chaperone Therapy" .
Ingabe wonke umuntu angayisebenzisa i-Galafold?
Cha. I-Galafold ingasetshenziswa kuphela kubantu abanohlobo oluthile lokuguqulwa okuguquguqukayo ku-gene eyenza i-enzyme ethi 'alpha-gal'. I-enzyme ethi 'alpha-gal' ekhiqizwa yilolu guquko isakwazi ukusebenza, kodwa ayizinzile kakhulu ukuthi ingasebenza kahle. I-Galafold inamathela kuleyo enzyme, iyiqinise, futhi iyenze isebenze.
Ezinye iziguli ze-Fabry azikhiqizi nhlobo i-enzyme ethi `alpha-gal`, noma i-enzyme ekhiqizwayo ayisebenzi nhlobo. I-Galafold ngeke ibe usizo kubantu abanjalo. Ngoba ayikho i-enzyme emzimbeni yokuyiqinisa. Ukwelashwa kokufaka esikhundleni se-enzyme (ERT) kufaneleke kakhulu kubo.
Ngakho-ke, ngaphambi kokuba udokotela wakho akunike uGalafold, uzokwenza ukuhlolwa okukhethekile kwezakhi zofuzo ukuze anqume ukuthi hlobo luni lokuguqulwa kwezakhi zofuzo onalo. Lokhu kuzonquma ukuthi lo muthi uzoba usizo kuwe noma cha.
Uyisebenzisa kanjani le mithi?
Le ngxenye ibaluleke kakhulu ngoba ukuze uthole izinzuzo ezigcwele zomuthi, udinga ukuyisebenzisa ngendlela efanele.
- Indlela Yokuthatha: I-Galafold iyi-capsule. Ithathwa njalo ngemva kwezinsuku ezimbili , okungukuthi, njalo ngemva kwezinsuku ezimbili.
- Isikhathi sosuku: Kubaluleke kakhulu ukuyithatha ngesikhathi esifanayo nsuku zonke. Isibonelo, uma uyithathe ngo-8 ekuseni ngosuku lokuqala, kufanele uyithathe ngo-8 ekuseni ngosuku olulandelayo.
- Okubaluleke kakhulu: Lo muthi kufanele uthathwe esiswini esingenalutho . Lokho kusho ukuthi akufanele udle lutho amahora ama-2 ngaphambi noma amahora ama-2 ngemuva kokuthatha umuthi.
- Enye into ebalulekile: Futhi, ungaphuzi lutho oluqukethe i-caffeine (njengetiye, ikhofi, iziphuzo ezibandayo) amahora ama-2 ngaphambi nangemva kwamahora ama-2 uphuze iphilisi. Phakathi nalesi sikhathi, ungaphuza amanzi, iziphuzo zezithelo ezingenayo i-fiber, noma iziphuzo ezine-carbonated ezingenayo i-caffeine.
Ukuze kukusize ugweme ukuxubha izinsuku zakho, lo muthi uza ngephakethe elikhethekile. Ubizwa ngokuthi 'ikhadi le-blister.' Unendlela yokumaka izinsuku. Ususa ikhadi le-blister ngosuku othatha ngalo umuthi, futhi ngosuku ongawuthathi ngalo umuthi, ususa indilinga engenalutho endaweni yayo. Ngale ndlela, ungamaka ikhadi nsuku zonke futhi ungaphuthelwa usuku oludingayo ukuthatha umuthi.
Ingabe ikhona imiphumela emibi nezinkinga ngeminye imithi?
Abanye abantu abasebenzisa iGalafold bangase babe nengozi eyengeziwe kancane yokutheleleka kokuphefumula (umkhuhlane, umphimbo obuhlungu) kanye nokutheleleka komgudu womchamo. Indlela engcono kakhulu yokuvimbela ukutheleleka ukugeza izandla zakho njalo, uhlale kude nabantu abagulayo, futhi uphuze amanzi amaningi.
Into ebaluleke kakhulu ukuthi, uma uba nanoma yiziphi izimpawu ezikhathazayo nezingavamile ocabanga ukuthi zingabangelwa yilo muthi, ungalokothi uyeke ukuwuthatha wedwa . Qiniseka ukuthi ukhuluma nodokotela wakho.
Ngaphezu kwalokho, njengoba sixoxile ngaphambili, i-caffeineNgakho-ke, iGalafold ingase ingasebenzi kahle. Ngakho-ke qaphela izinto eziqukethe i-caffeine. Kubaluleke kakhulu futhi ukwazisa udokotela wakho nganoma yimiphi eminye imithi, amavithamini, noma imithi yendabuko oyithathayo.
Umlayezo Wokuya Nawe Ekhaya
- I-Galafold umuthi okhethekile ophuzwayo wezinhlobo ezithile zesifo se-Fabry.
- Lokhu kusebenza ngokuzinzisa i-enzyme esivele isemzimbeni wakho, kodwa engazinzile, nokwenza isebenze. Udinga ukwenza ukuhlolwa kofuzo ukuze uthole ukuthi lokhu kulungile yini kuwe.
- Umuthi kufanele uphuzwe njalo ngemva kwezinsuku ezimbili, esiswini esingenalutho. Gwema ukudla nokuphuza iziphuzo ezine-caffeine emahoreni ama-2 ngaphambi kanye namahora ama-2 ngemuva kokuthatha umuthi.
- Lo muthi ungase ungazithuthukisi izimpawu zakho zamanje, kodwa uzosiza ekuvimbeleni umonakalo wesikhathi esizayo obangelwa yilesi sifo.
- Uma unemiphumela emibi noma izinkinga, khuluma nodokotela wakho ngokushesha.
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