La  i-cystic fibrosis, ngilapha isifo sofuzo evame kakhulu. Ukubonakaliswa okuyinhloko kuthinta amapheshana okuphefumula kanye nokugaya kodwa cishe zonke izitho zingathinteka. Izimpawu zivame ukuvela zisencane futhi ziyahlukahluka ngokuqina kumuntu nomuntu. Lesi sifo sidala a ukuqina i-mucus ekhiqizwe ulwelwesi lwamafinyila lwezono, i-bronchi, amathumbu, amanyikwe, isibindi nohlelo lokuzala (bheka umdwebo).

The amaphaphu ngokuvamile yibo abathinteka kakhulu. I ukuqina, ukukhishwa kwe-viscous vimba i-bronchi, okwenza kube nzima ukuphefumula. Ngaphezu kwalokho, amafinyila anqwabelana emaphashini ayasiza ekukhuleni kwamagciwane. Ngakho-ke, abantu abane-cystic fibrosis basengozini enkulu yokuphathwa izifo zokuphefumula ezingase zibe zimbi kakhulu.

La i-cystic fibrosis futhi ithinta i uhlelo lokugaya ukudla. I-mucus ivamise ukuvimba imigudu emincane ye-pancreas, ivimbele ama-enzyme okugaya akhiqizwa ama-pancreas ukuthi angangeni emathunjini futhi enze umsebenzi wawo. Njengoba ukudla kugaywe kancane, ikakhulukazi amafutha namavithamini athile, ukuntuleka okukhulu kwenzeka. Zingadala a ukukhubazeka kokukhula.

Lesi sifo siphinde sibe nemiphumela emikhulu esibindini nasezithweni zokuzala, okuvame ukuholela ekwandeni kwabesifazane kanye ukungazali emadodeni athintekile.

Siyabonga a ukuxilongwa kwangaphambili nokunakekelwa okungcono,isikhathi sokuphila futhi izinga lempilo yalabo abathintekayo liye laqhubeka lithuthuka emashumini eminyaka adlule, ikakhulukazi njengoba izindlela zokwelapha ezintsha, ezihloswe ekuxabaneni kofuzo, seziqala ukuvela futhi zizoshintsha ukuphathwa kweziguli esikhathini esimaphakathi. .

Ukuvama

La i-cystic fibrosis iyona  isifo sofuzo evame kakhulu eFrance nabantu abacishe babe ngu-6000 abathintekile¹.. Ingane eyodwa kwezi-4 ezisanda kuzalwa ihlaselwa yilesi sifo. Inqabile kakhulu kwabamnyama (000 ku-1) nabaseMpumalanga (13 ku-000). Kuthinta kokubili amadoda nabesifazane. Inani labantu basentshonalanga yeFrance yibona abathinteka kakhulu.

La i-cystic fibrosis iyona isifo sofuzo isifo esibi esivame kakhulu eCanada. Ingane eyodwa kwezi-3 ezisanda kuzalwa iyathinteka¹. I-Cystic fibrosis ivame kakhulu phakathi Quebec kunakulo lonke elaseCanada: Bangu-3 abantu baseCanada abathintekile, okuhlanganisa nama-500 Quebecers.

Izimbangela

La i-cystic fibrosis yachazwa okokuqala ngo-1936 nguD^r UGuido Fanconi, udokotela wezingane waseSwitzerland. I-gene enesibopho, ebizwa ngokuthi i-CFTR (ye-"Cystic Fibrosis Transmembrane conductance Regulator"), ayizange ikhonjwe kuze kube ngu-1989 ngabacwaningi baseCanada. Kubantu abagulayo, lokhu isakhi is okungavamile (sithi uyadluliswa). Inesibopho sokuhlanganiswa kwesiteshi se-chlorine esivumela ukulawula ukugeleza kwe-mucus. Esimeni sokungajwayelekile kufuzo lwe-CFTR, i isikhwehlela umkhiqizo ujiyile kakhulu futhi awukhithi ngokujwayelekile. Ngaphezulu kwezinguquko ezi-1 ezihlukene zofuzo lwe-CFTR ezihilelekile ku-cystic fibrosis zihlonziwe^{2, 3,4.} Ahlukaniswe amakilasi ayi-6 ngokwezinhlobo ezahlukene zokungasebenzi kahle²Kulezi zinguquko eziningi, uguquko lwe-Delta F508, olutholakala ku-81% wabantu abathintekile eFrance, luvame kakhulu.

I-Cystic fibrosis ayisona isifo esithathelwanayo. Abantu abangabanikazi izinguquko ze-pathogenic zofuzo lwe-CFTR zenza lesi sifo ngokushesha noma kamuva kodwa sibe ngamazinga ahlukahlukene obunzima.

kwesifo

Ngokuvamile, i-cystic fibrosis itholakala ekuqaleni konyaka wokuqala wokuphila ngoba izimpawu zokuphefumula avele ekuseni kakhulu. Ezimweni ezingama-90%, lesi sifo sitholwa ngaphambi kweminyaka eyi-10.

Ukuqinisekisa ukuxilongwa, udokotela wenza a ukuhlolwa kokujuluka (noma ukuhlolwa kokujuluka). Ngempela, izithukuthuku zabantu abane-cystic fibrosis ziningi kakhulu kugxile kusawoti (izikhathi ezi-2 kuya kwezi-5 ngaphezu kokujwayelekile). I ukuhlolwa kofuzo  vumela ukukhonjwa okuqondile kokungajwayelekile ohlotsheni lofuzo lwe-CFTR. Zibalulekile ekucabangeleni izindlela zokwelapha ezihlosiwe.

E-France, i-cystic fibrosis ihlolwe ngokuhlelekile kuzo zonke izingane ezisanda kuzalwa kusukela ngo-2002⁵. Kuye kwaboniswa ukuthi ukuhlolwa kusenesikhathi kuthuthukisa izinga lempilo kanye neminyaka yokuphila kwezingane ezithintekile.Izingane ezisanda kuzalwa zithathwa njengesampula ezinsukwini ezi-3 zokuphila ngemva kwemvume yabazali, ngaphambi kokukhululwa. ukubeletha. Ukuhlolwa akunikezi ukuhlonza okuqondile kodwa okuzoqinisekiswa noma kungavunyelwe ukuhlolwa okungeziwe okwengeziwe (ukuhlolwa kokujuluka, ucwaningo lwezakhi zofuzo).

E-Quebec, akukho ukuhlolwa okuhlelekile lesi sifo. Kodwa-ke, iCanadian Cystic Fibrosis Foundation, esekelwa odokotela abaningana, ibilokhu ifuna ukuthi kuqaliswe ukuhlolwa kwezinsana iminyaka eminingana. Ukutholwa kusenesikhathi kuboniswe ukuthuthukisa izinga lempilo neminyaka yokuphila kwezingane ezithintekile.

Isikhathi sokuphila

Ku-1960s, iisikhathi sokuphila izingane ezine-cystic fibrosis azizange zidlule iminyaka emi-5. Kulezi zinsuku, ngokwezibalo zakamuva, iminyaka yobudala ephakathi ineminyaka engama-47¹.  izifo zokuphefumula kuhlala kuyimbangela yokufa evame kakhulu.

Izinkinga ezivamile

I-Cystic fibrosis yisifo esilimaza kancane kancane amaphaphu, amanyikwe nesibindi. i ukuqapha kwezokwelapha Kodwa-ke, kuyasiza ukunciphisa ubunzima kanye nemvamisa yezinkinga.

The izinkinga zokuphefumula yizona ezivame kakhulu, okuhlanganisa ukunwetshwa kwe-bronchi, okubangela i-bronchitis, i-pneumonia ngokuphindaphinda. Kunezikhathi zokuwohloka kwezimpawu zokuphefumula, lapho iziguli "ziminyene" kakhulu, ziphefumula kakhulu, zilahlekelwa isisindo, ngokuvamile ngenxa yokutheleleka. Ukulimala kokuphefumula kungase kubeke ukuphila engozini.

Ngokuqondene ne uhlelo lokugaya ukudla, ukuvinjelwa kwemigudu yenyongo evumela i-bile ukuba igeleze emgudwini wokugaya ukudla kungaholela ekuqineni kwesibindi. Ukuvimbela kanye ne-progressive sclerosis ye- kwamanyikwe, kungabangela i-malabsorption yezakhi kanye nokuthuthukiswa kwesifo sikashukela. Lezi zinkinga zivame ukuholela ukusilela kokudla okunempilo isifo sohudo esibi nesingapheli. Ngokuvamile, ukushiyeka kungalungiswa ngokudla okukhethekile. Ngakolunye uhlangothi, ukuqunjelwa okuphawulekayo, noma ukuvinjelwa kwamathumbu, nakho kungenzeka.

Ngokuvamile, ukuthomba kwenzeka kamuva kubafana namantombazane ane-cystic fibrosis. Ekugcineni, i ukuzala kuyinto kwehle, ikakhulukazi emadodeni cishe wonke (95%) anyumba ngenxa yokuvinjwa kwama-vas deferens. Le migudu ithwala isidoda isuka kumasende iye embotsheni yesidoda. Kwabesifazane, ukwanda kwe-viscosity ye-mucus yangasese kunciphisa ukunyakaza kwesidoda. Lesi sifo singathinta nokujwayelekile kanye nemvamisa ye-ovulation. Ukuzala kuyehla, kodwa ukukhulelwa kusengenzeka.