La  cystic fibrosis,ndipo matenda amtundu kawirikawiri. Mawonetseredwe akuluakulu amakhudza kupuma ndi kugaya chakudya koma pafupifupi ziwalo zonse zimatha kukhudzidwa. Zizindikiro nthawi zambiri zimawonekera kuyambira ali wakhanda ndipo zimasiyana mosiyanasiyana kuchokera kwa munthu ndi munthu. Matendawa amachititsa a kuphulika ntchofu wotulutsidwa ndi mucous nembanemba zam'mphuno, bronchi, matumbo, kapamba, chiwindi ndi ubereki (onani chithunzi).

The mapapo nthawi zambiri amakhudzidwa kwambiri. The wandiweyani, viscous secretions kulepheretsa bronchi, zomwe zimapangitsa kuti zikhale zovuta kupuma. Kuonjezera apo, ntchentche zomwe zimachulukana m'mapapu zimathandizira kuti majeremusi akule. Chifukwa chake, anthu omwe ali ndi cystic fibrosis amakhala pachiwopsezo chotenga matenda pafupipafupi komanso oopsa kwambiri.

La cystic fibrosis imakhudzanso dongosolo lakumagazi. Ma ntchofu amatha kutsekereza tinjira tating'onoting'ono ta kapamba, ndikuletsa ma enzymes am'mimba opangidwa ndi kapamba kuti asalowe m'matumbo ndikugwira ntchito yawo. Popeza chakudya chimangogayidwa pang'ono, makamaka mafuta ndi mavitamini ena, kuperewera kwakukulu kumachitika. Zitha kuyambitsa a kuchepa kwa kukula.

Matendawa amakhalanso ndi zotsatira zazikulu pachiwindi ndi ziwalo zoberekera, zomwe nthawi zambiri zimayambitsa kusabereka kwa amayi komanso osabereka mwa amuna okhudzidwa.

Chifukwa cha a matenda oyamba ndi chisamaliro chabwino,nthawi ya moyo ndipo umoyo wa anthu omwe akukhudzidwawo wakhala akupitilirabe bwino m'zaka makumi angapo zapitazi, makamaka popeza mankhwala atsopano, omwe amayang'aniridwa ndi ma genetic anomaly, akuyamba kuonekera ndipo adzasintha kasamalidwe ka odwala panthawi yapakati. .

Kukula

La cystic fibrosis ndi  matenda amtundu zofala kwambiri ku France pomwe anthu pafupifupi 6000 akhudzidwa¹.. Mmodzi mwa ana anayi obadwa kumene amakhudzidwa ndi matendawa. Ndizosowa kwambiri pakati pa anthu akuda (4 mu 000) ndi Oriental (1 mu 13). Zimakhudza amuna ndi akazi omwe. Anthu akumadzulo kwa France ndiwo akukhudzidwa kwambiri.

La cystic fibrosis ndi matenda amtundu matenda oopsa kwambiri ku Canada. Mmodzi mwa ana atatu obadwa kumene amakhudzidwa¹. Cystic fibrosis ndi yofala kwambiri Quebec kuposa ku Canada konse: 3 aku Canada akhudzidwa, kuphatikiza 500 Quebecers.

Zimayambitsa

La cystic fibrosis inafotokozedwa koyamba mu 1936 ndi D^r Guido Fanconi, dokotala wa ana waku Switzerland. Jini yodalirika, yotchedwa CFTR (ya "Cystic Fibrosis Transmembrane conductance Regulator"), sinadziwike mpaka 1989 ndi ofufuza aku Canada. Mwa anthu odwala, izi jini is zachilendo (timati wasamutsidwa). Ndiwo udindo wa kaphatikizidwe wa chlorine njira kulola kuti hydration wa ntchofu. Pakachitika zolakwika mu jini ya CFTR, a ntchofu mankhwala ndi wandiweyani kwambiri ndipo si kukhetsa bwinobwino. Kusintha kopitilira 1 kosiyanasiyana mu jini ya CFTR yomwe imakhudzidwa ndi cystic fibrosis yadziwika^{2, 3,4.} Amagawidwa m'magulu 6 molingana ndi mitundu yosiyanasiyana ya kukanika²Mwa masinthidwe ambiriwa, kusintha kwa Delta F508, komwe kumapezeka mu 81% ya anthu omwe akukhudzidwa ku France, ndikofala kwambiri.

Cystic fibrosis si matenda opatsirana. Anthu eni ake kusintha kwa pathogenic a jini ya CFTR amayamba matendawa posachedwa kapena pambuyo pake koma mosiyanasiyana.

matenda

Nthawi zambiri, cystic fibrosis imapezeka m'chaka choyamba cha moyo chifukwa zizindikiro za kupuma kuwoneka molawirira kwambiri. Mu 90% ya milandu, matendawa amapezeka asanakwanitse zaka 10.

Kuti atsimikizire matenda, dokotala amachita a mayeso a thukuta (kapena kuyesa kwa thukuta). Zowonadi, thukuta la anthu omwe ali ndi cystic fibrosis ndi lochulukirapo wokhazikika mu mchere (2 mpaka 5 nthawi zambiri kuposa zachibadwa). The mayesero a chibadwa  kulola chizindikiritso chenicheni cha zolakwika mu jini ya CFTR. Iwo ndi ofunikira poganizira njira zochiritsira zomwe akufuna.

Ku France, cystic fibrosis idawunikiridwa mwadongosolo mwa ana obadwa kumene kuyambira 2002⁵. Zasonyezedwa kuti kuyang'ana koyambirira kumapangitsa kuti moyo ukhale wabwino komanso nthawi ya moyo wa ana okhudzidwa.Ana obadwa kumene amayesedwa pamasiku a 3 a moyo pambuyo pa chilolezo cha makolo, asanatulutsidwe. umayi. Mayesowa sapereka chizindikiritso chotsimikizika koma chomwe chidzatsimikiziridwa kapena kuthetsedwa ndi mayeso ena owonjezera (kuyesa thukuta, kafukufuku wa majini).

Ku Quebec, palibe kuwunika mwadongosolo za matenda. Komabe, bungwe la Canadian Cystic Fibrosis Foundation, lothandizidwa ndi madokotala angapo, lakhala likufuna kukhazikitsidwa kwa kuyezetsa obadwa kumene kwa zaka zingapo. Kuzindikira koyambirira kwawonetsedwa kuti kumapangitsa kuti moyo ukhale wabwino komanso moyo wa ana okhudzidwa.

Kukhala ndi moyo

Mu 1960s, anthawi ya moyo Ana omwe ali ndi cystic fibrosis sanapitirire zaka 5. Masiku ano, malinga ndi ziwerengero zaposachedwa, zaka zapakati zokhala ndi moyo ndi zaka 47¹.  matenda opuma kukhalabe chomwe chimayambitsa imfa kwambiri.

Zovuta pafupipafupi

Cystic fibrosis ndi matenda omwe amawononga pang'onopang'ono mapapu, kapamba, ndi chiwindi. ndi kuyang'anira zamankhwala Komabe, zimathandiza kuchepetsa kuopsa komanso kuchuluka kwa zovuta.

The zovuta kupuma ndi pafupipafupi, kuphatikizapo dilation wa bronchi, kuchititsa bronchitis, chibayo ndi kubwerezabwereza. Pali nthawi za kuwonjezereka kwa zizindikiro za kupuma, pamene odwala ali "odzaza" kwambiri, amakhala ndi mpweya wambiri, amachepa thupi, nthawi zambiri chifukwa cha matenda. Kuwonongeka kwa kupuma kumatha kuyika moyo pachiwopsezo.

Ponena za dongosolo lakumagazi, kutsekeka kwa njira za ndulu zomwe zimalola kuti ndulu kuti zilowe m’matumbo a m’mimba kungayambitse matenda a cirrhosis. Kutsekereza ndi progressive sclerosis kapamba, kungayambitse matenda a malabsorption ndi chitukuko cha matenda a shuga. Matendawa nthawi zambiri amayambitsa kusowa kwa zakudya kutsekula m'mimba kwambiri komanso kosatha. Kawirikawiri, zofooka zingathe kukonzedwa ndi zakudya zapadera. Mosiyana ndi zimenezi, kudzimbidwa kwakukulu, kapena ngakhale kutsekeka kwa m'mimba, kungathenso kuchitika.

Nthawi zambiri, kutha msinkhu kumachitika pambuyo pake mwa anyamata ndi atsikana omwe ali ndi cystic fibrosis. Pomaliza, a kubala ndi kuchepa, makamaka mwa amuna omwe ali pafupifupi onse (95%) osabereka chifukwa cha kutsekeka kwa vas deferens. Tizilombo timeneti timanyamula umuna kuchokera ku machende kupita ku minyewa ya umuna. Mu akazi, kuchuluka mamasukidwe akayendedwe a nyini ntchofu kubweza kayendedwe ka umuna. Matendawa amathanso kukhudza kukhazikika komanso pafupipafupi kwa ovulation. Kubereka kumachepa, koma mimba ikadali yotheka.