Ingabe Lukhona Ukwelashwa KweCystic Fibrosis?

-Delile

• Ucwaningo
• Ukwelashwa kwe-Gene esikhundleni
• Ama-modulators we-CFTR
• Ukuhogela i-DNA
• Isigameko
• Izinkinga
• Izinkinga zokuphefumula
• Izinkinga zokugaya ukudla
• Ezinye izinkinga
• Umbono
• Ukuzibandakanya
• Izinhlangano zokucwaninga
• Ukuhlolwa kwemitholampilo

Ukubuka konke

ICystic fibrosis (CF) yisifo esizuzwe njengefa esilimaza amaphaphu akho kanye nohlelo lokugaya ukudla. I-CF ithinta amaseli omzimba akhiqiza amafinyila. Lezi ziketshezi zihloselwe ukugcoba umzimba futhi ngokuvamile mncane futhi zincane. I-CF yenza lolu ketshezi lomzimba lube lujiyile futhi lunamathele, okubenza bakheke emaphashini, ezindleleni zomoya nasemgudwini wokugaya ukudla.

Ngenkathi intuthuko ocwaningweni ithuthukise kakhulu izinga lempilo kanye neminyaka yokuphila kwabantu abane-CF, iningi lizodinga ukuphatha lesi simo impilo yabo yonke. Njengamanje, alikho ikhambi le-CF, kepha abacwaningi basebenzela eyodwa. Funda ngocwaningo lwakamuva nokuthi yini engatholwa maduze kubantu abane-CF.

Ucwaningo

Njengezimo eziningi, ucwaningo lweCF luxhaswa yizinhlangano ezinikele eziphakamisa imali, zinikele ngeminikelo, futhi zilwele izibonelelo zokugcina abacwaningi besebenzela ukuthola ikhambi. Nazi ezinye zezindawo eziyinhloko zocwaningo njengamanje.

Ukwelashwa kwe-Gene esikhundleni

Emashumini ambalwa eminyaka edlule, abacwaningi bathola isakhi sofuzo esibhekele i-CF. Lokho kwaletha ithemba lokuthi ukwelashwa kokushintsha izakhi zofuzo kungakwazi ukufaka esikhundleni isakhi sofuzo esingalungile ku-vitro. Noma kunjalo, lokhu kwelashwa akukasebenzi okwamanje.

Ama-modulators we-CFTR

Eminyakeni yamuva nje, abacwaningi baye basungula umuthi ohlose imbangela yeCF, hhayi izimpawu zawo. Le mithi, i-ivacaftor (Kalydeco) ne-lumacaftor / ivacaftor (i-Orkambi), iyingxenye yesigaba semithi eyaziwa njenge-cystic fibrosis transmembrane conductance regulator (CFTR) modulators. Lesi sigaba semithi senzelwe ukuthinta isakhi sofuzo esiguqukile esibhekele i-CF futhi sibangele ukuthi sakhe kahle uketshezi lomzimba.

Ukuhogela i-DNA

Uhlobo olusha lokwelashwa kofuzo lungahle luthathe lapho ukwelashwa kofuzo okwakwenziwe ngaphambilini kungaphumelelanga. Le ndlela entsha isebenzisa ama-molecule e-DNA ahogelwayo ukuletha amakhophi “ahlanzekile” wesakhi sofuzo kumaseli asemaphashini. Ekuhlolweni kokuqala, iziguli ezisebenzise le ndlela yokwelashwa zikhombise ukuthuthuka kwezimpawu ezinesizotha. Lokhu kuqhamuka kukhombisa isithembiso esikhulu kubantu abane-CF.

Akukho kulezi zindlela zokwelapha eziyikhambi leqiniso, kodwa ziyizinyathelo ezinkulu kakhulu ekubhekaneni nokuphila okungenazifo abantu abaningi abane-CF abangakaze babhekane nakho.

Isigameko

Namuhla, bangaphezu kuka-30,000 abantu abaphila neCF e-United States. Kuyisifo esingajwayelekile - cishe ngabantu abayi-1 000 kuphela abatholakala minyaka yonke.

Izici ezimbili eziyinhloko zobungozi zandisa amathuba omuntu okutholakala ukuthi une-CF.

• Umlando womndeni: I-CF yisimo sofuzo esizuzwe njengefa. Ngamanye amagama, isebenza emindenini. Abantu bangathwala isakhi sofuzo se-CF ngaphandle kokuba nalesi sifo. Uma abathwali ababili benengane, leyo ngane inethuba elilodwa kwamane lokuba ne-CF. Kungenzeka futhi ukuthi ingane yabo izothwala isakhi sofuzo se-CF kodwa ingabi naso lesi sifo, noma ingabi naso nhlobo isakhi sofuzo.
• Ubuhlanga: I-CF ingenzeka kubantu bazo zonke izinhlanga. Kodwa-ke, kuvame kakhulu kubantu baseCaucasus abanokhokho abavela eNyakatho Yurophu.

Izinkinga

Izinkinga zeCF ngokuvamile ziwela ezigabeni ezintathu. Lezi zigaba nezinkinga zifaka:

Izinkinga zokuphefumula

Lezi akuzona ukuphela kwezinkinga ze-CF, kodwa ezinye zezinto ezivame kakhulu:

• Ukulimala komoya: I-CF ilimaza izindiza zakho. Lesi simo, esibizwa nge-bronchiectasis, senza ukuphefumula ngaphakathi nangaphandle kube nzima. Kwenza futhi ukusula amaphaphu amafinyila aminyene, anamathelayo kube nzima.
• Ama-polyp nasal: I-CF ivame ukudala ukuvuvukala nokuvuvukala kulwelwesi lwezigaba zakho zamakhala. Ngenxa yokuvuvukala, ukukhula okungamanzi (ama-polyps) kungakhula. Ama-polyps enza ukuphefumula kube nzima kakhulu.
• Ukutheleleka njalo: Isicubu esijiyile, esinamathelayo siyindawo yokuzalanisa eyinhloko yamabhaktheriya. Lokhu kwandisa izingozi zakho zokuthuthukisa i-pneumonia ne-bronchitis.

Izinkinga zokugaya ukudla

I-CF iphazamisa ukusebenza okujwayelekile kohlelo lwakho lokugaya ukudla. Lezi ngezinye zezimpawu ezivame kakhulu zokugaya ukudla:

• Ukuvinjelwa kwamathumbu: Abantu abane-CF banengozi eyengeziwe yokuvinjelwa kwamathumbu ngenxa yokuvuvukala okubangelwa yilesi sifo.
• Ukuntuleka kokudla okunomsoco: Amafinyila aminyene, anamathelayo abangelwa yi-CF angavimba uhlelo lwakho lokugaya ukudla futhi avimbele uketshezi oludingayo lokumunca izakhi ekufinyeleleni emathunjini akho. Ngaphandle kwalezi ziketshezi, ukudla kuzodlula ohlelweni lwakho lokugaya ngaphandle kokumunca. Lokhu kukugcina ekutholeni noma iyiphi inzuzo yokudla okunempilo.
• Isifo sikashukela: Isicubu esijiyile, esinamathelayo esidalwe yi-CF izibazi zepancreas futhi siyasivimba ukuthi sisebenze kahle. Lokhu kungavimbela umzimba ekukhiqizeni i-insulin eyanele. Ngokwengeziwe, i-CF ingavimbela umzimba wakho ekuphenduleni i-insulin ngokufanele. Zombili lezi zinkinga zingadala isifo sikashukela.

Ezinye izinkinga

Ngaphezu kwezinkinga zokuphefumula nezokugaya ukudla, i-CF ingadala ezinye izinkinga emzimbeni, kufaka phakathi:

• Izinkinga zokuzala: Abesilisa abane-CF cishe bahlala bengenanzalo. Lokhu kungenxa yokuthi amafinyila aminyene ajwayele ukuvimba ishubhu elithwala uketshezi olusuka endlala yesinye luye emasendeni. Abesifazane abane-CF bangase bangabi nenzalo encane kunabesifazane abangenayo le nkinga, kodwa abaningi bayakwazi ukuba nezingane.
• I-Osteoporosis: Lesi simo, esidala amathambo amancane, sivamile kubantu abane-CF.
• Ukwehla kwamanzi emzimbeni: I-CF yenza ukuba kube lula ukulingana kwamaminerali emzimbeni wakho kube nzima kakhulu. Lokhu kungadala ukoma, kanye nokungalingani kwe-electrolyte.

Umbono

Emashumini eminyaka amuva nje, umbono wabantu abatholakale bene-CF uye wathuthuka kakhulu. Manje sekuyinsakavukela kubantu abane-CF ukuba bangene eminyakeni yabo engama-20 nengama-30. Abanye bangaphila isikhathi eside.

Njengamanje, izindlela zokwelashwa ze-CF zigxile ekwehliseni izimpawu nezimpawu zalesi simo nemiphumela engemihle yokwelashwa. Ukwelashwa kuhlose nokuvikela izinkinga ezivela kulesi sifo, njengokungenwa ngamagciwane.

Noma ngocwaningo oluthembisayo oluqhubekayo njengamanje, ukwelashwa okusha noma ukwelashwa kwe-CF kusenokwenzeka ukuthi kube yiminyaka kude. Izindlela zokwelashwa ezintsha zidinga iminyaka yocwaningo nezilingo ngaphambi kokuthi izinhlangano ezilawulayo zivumele izibhedlela nodokotela ukuthi bazinikeze iziguli.

Ukuzibandakanya

Uma une-CF, wazi umuntu one-CF, noma unentshisekelo yokuthola ikhambi lalesi sifo, ukuzibandakanya ekusekeleni ucwaningo kulula kakhulu.

Izinhlangano zokucwaninga

Ucwaningo oluningi olwenziwe ekwelapheni kwe-CF luxhaswa yizinhlangano ezisebenzela abantu abane-CF nemindeni yabo. Ukunikela kubo kusiza ekuqinisekiseni ukuqhubeka kocwaningo lokwelashwa. Lezi zinhlangano zifaka:

• ICystic Fibrosis Foundation: I-CFF yinhlangano egunyazwe yi-Better Business Bureau esebenza ukuxhasa ucwaningo lokwelashwa nokwelashwa okuthuthukile.
• ICystic Fibrosis Research, Inc.: ICFRI yinhlangano evunyelwe ukusiza abantu. Umgomo wayo oyinhloko ukuxhasa ucwaningo, ukuhlinzeka ukwesekwa nemfundo ezigulini nasemindenini, futhi kuqwashiswe iCF.

Ukuhlolwa kwemitholampilo

Uma une-CF, ungahle ufaneleke ukubamba iqhaza esivivinyweni somtholampilo. Iningi lalezi zivivinyo zokwelashwa zenziwa ngezibhedlela zocwaningo. Ihhovisi likadokotela wakho lingaba nokuxhumana nelinye lala maqembu. Uma bengakwenzi, ungakwazi ukufinyelela kwenye yalezi zinhlangano ezingenhla futhi uxhumeke kummeli ongakusiza ekutholeni isivivinyo esivulekile nesamukela abahlanganyeli.