Ithemba elitsha kwabo baneFabry Disease: Masithethe ngeziyobisi iGalafold!

Ukuba wena okanye umntu omaziyo unesifo sikaFabry, mhlawumbi ukhe weva ngeyeza elibizwa ngokuba yiGalafold. Liyeza lokuqala nelokuphela elithathwa ngomlomo lesifo sikaFabry. Ezinye iindlela zonyango zesifo sikaFabry, ezinje ngonyango lokutshintshwa kwee-enzyme , zinikwa ngenaliti. IGalafold luhlobo lonyango "lwe-chaperone" olusebenza ngendlela eyahlukileyo ngokupheleleyo. Ayisebenzi kuzo zonke iintlobo zesifo sikaFabry. Nangona kunjalo, inokuba luncedo kakhulu kubantu abaneenguqu ezithile kwijini ebangela esi sifo.

Yintoni isifo sikaFabry? Isebenza njani iGalafold?

Ngamafutshane, isifo sikaFabry sisifo esingaqhelekanga semfuza esidluliselwa kumzali ukuya emntwaneni. Abantu abanesifo sikaFabry bane-enzyme ebizwa ngokuba yi -alpha-galactosidase A (alpha-gal) emizimbeni yabo. Kodwa le enzyme ayisebenzi kakuhle. Oku kungenxa yokuba kukho utshintsho kwi-gene oluyixelela ukuba yenze le enzyme.

I-Alpha-gal yi-enzyme ebaluleke kakhulu efumaneka kwiiseli ezininzi emzimbeni wethu. Umsebenzi wayo ophambili kukuqhekeza into enamafutha ebizwa ngokuba yi -GL-3 . Ngoko ke, xa le enzyme ingasebenzi kakuhle, into ebizwa ngokuba yi-GL-3 iqala ukuqokelelana ngaphakathi kwiiseli zomzimba. Ekuhambeni kwexesha, oku kuqokelelana kunokubangela umonakalo omkhulu kwiindawo ezibalulekileyo zomzimba, ezifana nezintso , intliziyo , ulusu, ingqondo, kunye nenkqubo yemithambo-luvo .

Kukho iintlobo ezimbini eziphambili zesifo sikaFabry.

Njengoko abantu abanesifo sikaFabry bekhula, i-GL-3 iyaqhubeka nokuqokelelana kwiiseli zabo. Oku kunokukhokelela kwiingxaki zempilo ezinzulu ngokuhamba kwexesha. Abantu abaninzi baba neengxaki zezintso, ezinokubangela ukungasebenzi kakuhle kwezintso ekugqibeleni. Esi sifo singonakalisa intliziyo kunye nemithambo yegazi , sandise umngcipheko wokuhlaselwa yintliziyo okanye isifo sohlangothi.

Abantu abaninzi banikwa i-Enzyme Replacement Therapy (ERT) ngenxa yoku. Oku kuquka ukufaka i-enzyme esebenza kakuhle eveliswa ngaphandle emzimbeni. Umzimba uyakwazi ukusebenzisa loo enzyme ukuqhekeza i-GL-3.

Nangona kunjalo, iGalafold isebenza ngendlela eyahlukileyo ngokupheleleyo. Isithako esisebenzayo kwiGalafold sisiyobisi esibizwa ngokuba yi-'migalastat'. Into eyenzayo kukuba, inamathela kwi-enzyme ye-'alpha-gal' ekhoyo emzimbeni wesigulana, kodwa ayizinzanga. Khawuthelekelele ukuba i-enzyme ye-'alpha-gal' emzimbeni wakho 'idumbile' kancinci, 'ayizinzanga'. Ke ngoko, ayinakusebenza kakuhle. Into eyenziwa sisiyobisi esibizwa ngokuba yiGalafold kukuba, njengomhlobo, sinamathela kule enzyme 'idumbileyo' kwaye 'siyiqinise'. Emva koko loo enzyme inokwenza umsebenzi wayo ngokufanelekileyo. Oku sikubiza ngokuba yi- "Chaperone Therapy" .

Ngaba wonke umntu angayisebenzisa iGalafold?

Hayi. IGalafold ingasetyenziswa kuphela kubantu abanohlobo oluthile lotshintsho olunokwenzeka kwijini eyenza i-enzyme ethi 'alpha-gal'. I-enzyme ethi 'alpha-gal' eveliswa lolu tshintsho isakwazi ukusebenza, kodwa ayizinzanga kakhulu ukuba isebenze ngokufanelekileyo. IGalafold inamathela kuloo enzyme, iyizinzise, ​​kwaye iyenze isebenze.

Abanye abaguli beFabry abayivelisi kwaphela i-enzyme ethi `alpha-gal`, okanye i-enzyme eveliswayo ayisebenzi kwaphela. IGalafold ayizukubanceda abantu abanjalo. Kuba akukho enzyme emzimbeni yokuzinzisa. Unyango lokutshintshwa kwe-enzyme (ERT) lubafanele ngakumbi.

Ngoko ke, ngaphambi kokuba ugqirha wakho akunike uGalafold, uza kwenza uvavanyo olukhethekileyo lwemfuza ukuze aqinisekise ukuba loluphi uhlobo lotshintsho lwemfuza onalo. Oku kuya kuqinisekisa ukuba eli yeza liza kuba luncedo kuwe okanye akunjalo.

Ulisebenzisa njani eli yeza?

Le nxalenye ibaluleke kakhulu kuba ukuze ufumane inzuzo epheleleyo yeyeza, kufuneka ulisebenzise ngokuchanekileyo.

• Indlela yokuthatha: IGalafold yikhaphu. Ithathwa yonke imihla , oko kukuthi, yonke imihla.
• Ixesha losuku: Kubaluleke kakhulu ukuyithatha ngexesha elifanayo yonke imihla. Umzekelo, ukuba uyithathe ngo-8 kusasa ngosuku lokuqala, kufuneka uyithathe ngo-8 kusasa ngosuku olulandelayo.
• Okubaluleke kakhulu: Eli yeza lifanele lithathwe ungenanto esiswini . Oko kuthetha ukuba akufanele utye nantoni na iiyure ezi-2 ngaphambi okanye iiyure ezi-2 emva kokulisebenzisa.
• Enye into ebalulekileyo: Kwakhona, musa ukusela nantoni na equlethe i-caffeine (njengeti, ikofu, iziselo ezibandayo) iiyure ezi-2 ngaphambi nangeeyure ezi-2 emva kokusela ipilisi. Ngeli xesha, ungasela amanzi, iziselo zeziqhamo ezingenayo ifayibha, okanye iziselo ezine-carbonated ezingenayo i-caffeine.

Ukuze ikuncede uphephe ukuxuba iintsuku zakho, eli yeza liza kwiphakheji ekhethekileyo. Libizwa ngokuba yi-'blister card'. Linendlela yokuphawula iintsuku. Ususa ikhadi le-blister ngosuku osela ngalo iyeza, kwaye ngomhla ongaliselanga ngayo iyeza, ususa isangqa esingenanto endaweni yaso. Ngale ndlela, ungaliphawula ikhadi yonke imihla kwaye ungaphoswa lusuku olufunekayo lokusela iyeza.

Ngaba kukho iziphumo ebezingalindelekanga kunye neengxaki ngamanye amayeza?

Abanye abantu abasebenzisa iGalafold banokuba nomngcipheko okhulayo wosulelo lokuphefumla (umkhuhlane, umphimbo obuhlungu) kunye nosulelo lomchamo. Eyona ndlela ilungileyo yokuthintela usulelo kukuhlamba izandla zakho rhoqo, uhlale kude nabantu abagulayo, kwaye usele amanzi amaninzi.

Ukongeza, njengoko besitshilo ngaphambili, i-caffeineNgoko ke, iGalafold isenokungasebenzi kakuhle. Ngoko ke lumka ngezinto ezine-caffeine. Kubaluleke kakhulu ukwazisa ugqirha wakho malunga namanye amayeza, iivithamini, okanye amayeza esintu owasebenzisayo.