I-CF Genetics: Izakhi Zakho Zofuzo Zikuthinta Kanjani Ukwelashwa Kwakho

-Delile

• Ukuguquka kwezakhi zofuzo kuyibangela kanjani i-CF?
• Yiziphi izinhlobo zokuguquka kwezakhi zofuzo ezingadala i-CF?
• Ukuguquka kwezakhi zofuzo kuzithinta kanjani izinketho zokwelashwa?
• Ngazi kanjani ukuthi ukwelashwa kufanele ingane yami?
• Ukuthatha

Uma ingane yakho ine-cystic fibrosis (CF), khona-ke izakhi zofuzo zabo zidlala indima esimweni sabo. Izakhi zofuzo ezithile ezibangela i-CF yazo nazo zizothinta izinhlobo zemithi ezingabasebenzela. Yingakho kubaluleke kakhulu ukuqonda ingxenye yezakhi zofuzo edlala ku-CF lapho wenza izinqumo mayelana nokunakekelwa kwezempilo kwengane yakho.

Ukuguquka kwezakhi zofuzo kuyibangela kanjani i-CF?

I-CF ibangelwa ukuguqulwa kwesilawuli sokuziphatha se-cystic fibrosis transmembrane (I-CFTR) isakhi sofuzo. Lesi sakhi sinesibopho sokukhiqiza amaprotheni e-CFTR. Lapho lawa maprotheni esebenza kahle, asiza ukulawula ukugeleza koketshezi nosawoti ongena nangaphandle kwamaseli.

Ngokusho kweCystic Fibrosis Foundation (CFF), ososayensi bathole izinhlobo ezingaphezu kuka-1 700 zokuguquka kwezakhi zofuzo ezingadala i-CF. Ukuze uthuthukise i-CF, ingane yakho kufanele izuze njengefa amakhophi amabili aguqukile we I-CFTR isakhi sofuzo - esisodwa kumzali ngamunye ophilayo.

Ngokuya ngohlobo oluthile lokuguqulwa kwezakhi zofuzo ingane yakho enakho, kungenzeka zingakwazi ukukhiqiza amaprotheni e-CFTR. Kwezinye izimo, bangahle bakhiqize amaprotheni e-CFTR angasebenzi kahle. Lokhu kukhubazeka kudala amafinyila ukuba akheke emaphashini abo futhi kubabeka engcupheni yezinkinga.

Yiziphi izinhlobo zokuguquka kwezakhi zofuzo ezingadala i-CF?

Ososayensi benze izindlela ezahlukahlukene zokuhlukanisa ukuguquka kwezakhi zofuzo ku I-CFTR isakhi sofuzo. Njengamanje bayahlunga I-CFTR ukuguquka kwezakhi zofuzo kumaqembu amahlanu, ngokuya ngezinkinga ezingadala:

• Isigaba 1: ukuguqulwa kokukhiqizwa kwamaprotheni
• Isigaba 2: ukuguqulwa kokucutshungulwa kwamaprotheni
• Isigaba 3: ukuguqula izinguquko
• Isigaba 4: ukuguqulwa kokuqhuba
• Isigaba 5: ukuguqulwa kwamaprotheni okunganele

Izinhlobo ezithile zokuguquka kwezakhi zofuzo ingane yakho enazo zingathonya izimpawu ezithuthukayo. Kungathinta nezindlela zabo zokwelashwa.

Ukuguquka kwezakhi zofuzo kuzithinta kanjani izinketho zokwelashwa?

Eminyakeni yamuva nje, abacwaningi baqale ukufanisa izinhlobo ezahlukahlukene zemithi nezinhlobo ezahlukahlukene zokuguquka kwesimo ku I-CFTR isakhi sofuzo. Le nqubo yaziwa ngokuthi yi-theratyping. Kungasiza udokotela wengane yakho ukuthi anqume ukuthi yiluphi uhlelo lokwelashwa olulungele bona.

Ngokuya ngeminyaka yengane yakho kanye nezakhi zofuzo, udokotela wabo angahle anikeze imoduli ye-CFTR. Lesi sigaba semithi singasetshenziswa ukwelapha abanye abantu abane-CF. Izinhlobo ezithile zabaguquleli be-CFTR zisebenza kuphela kubantu abanezinhlobo ezithile ze- I-CFTR ukuguquka kwezakhi zofuzo.

Kuze kube manje, i-U.S. Food and Drug Administration (FDA) ivume izindlela ezintathu zokwelapha ze-CFTR modulator:

• I-ivacaftor (Kalydeco)
• i-lumacaftor / ivacaftor (i-Orkambi)
• i-tezacaftor / ivacaftor (iSymdeko)

Cishe amaphesenti angama-60 abantu abane-CF bangazuza kwesinye salezi zidakamizwa, kubika i-CFF. Ngokuzayo, ososayensi banethemba lokwenza ezinye izindlela zokwelapha ze-CFTR modulator ezingasiza abantu abaningi.

Ngazi kanjani ukuthi ukwelashwa kufanele ingane yami?

Ukuze ufunde ukuthi ingane yakho ingazuza yini kumoduli we-CFTR noma olunye ukwelashwa, khuluma nodokotela wayo. Kwezinye izimo, udokotela wabo angayalela ukuhlolwa ukuze afunde kabanzi ngesimo sengane yakho nokuthi bangasabela kanjani emithini.

Uma ama-modulator we-CFTR engafanele ingane yakho, ezinye izindlela zokwelapha ziyatholakala. Isibonelo, udokotela wabo angase anikeze:

• amafinyila amancane
• bronchodilators
• ama-antibiotic
• ama-enzyme wokugaya ukudla

Ngaphezu kokunikeza imithi, iqembu lezempilo lengane yakho lingakufundisa ukuthi ungazisebenzisa kanjani izindlela zokuvunyelwa komoya (i-ACTs) ukukhipha futhi ukhiphe amafinyila emaphashini engane yakho.

Ukuthatha

Izinhlobo eziningi ezahlukene zokuguquka kwezakhi zofuzo zingadala i-CF. Izinhlobo ezithile zokuguqulwa kwezakhi zofuzo ingane yakho enazo zingathonya izimpawu zazo nohlelo lokwelashwa. Ukuze ufunde kabanzi mayelana nezinketho zokwelashwa kwengane yakho, khuluma nodokotela wazo. Ezimweni eziningi, udokotela wabo uzoncoma ukuhlolwa kofuzo.