Mukati
Cystic fibrosis (cystic fibrosis)
La cystic fibrosis, ari pano chirwere chemajini kazhinji kazhinji. Iwo maratidziro makuru ane chekuita nekufema uye maturakiti ekugaya asi dzinenge nhengo dzese dzinogona kukanganiswa. Zviratidzo zvinowanzoonekwa pakutanga kwehucheche uye zvinosiyana mukuoma pamunhu nemunhu. Chirwere ichi chinokonzera a thickening mucus yakavanzwa ne mucous membranes ye sinus, bronchi, intestine, pancreas, chiropa uye hurongwa hwekubereka (ona mufananidzo).
The mapapu ndivo vanowanzobatwa zvakanyanya. The gobvu, viscous secretions kudzivirira bronchi, zvichiita kuti zvive zvakaoma kufema. Mukuwedzera, hutu hunoungana mumapapu hunoita kuti utachiona huwedzere. Vanhu vane cystic fibrosis nekudaro vari panyanza yekubatwa nechirwere chekufema chinowanzoitika uye chinogona kunge chakakomba.
La cystic fibrosis inobatawo digestive system. Mucus anowanzo kuvharira ma ducts e pancreas, kudzivirira ma enzymes ekugaya anogadzirwa nepancreas kuti asapinde muura uye kuita basa rawo. Sezvo chikafu chinongogayiwa zvishoma, kunyanya mafuta uye mamwe mavhitamini, kushomeka kwakakosha kunoitika. Vanogona kuita kuti a kunonoka kukura.
Chirwere ichi chine zvakare kukanganisa kukuru pachiropa uye nhengo dzekubereka, kazhinji zvichikonzera kusabereka kwevakadzi uye kushaya mbereko muvarume vakabatwa.
Kutenda kune kuongororwa kwekare uye kutarisirwa kuri nani,makore ekurarama uye hutano hwehupenyu hweavo vakabatwa hwakaramba huchivandudza mumakumi emakore adarika, kunyanya sezvo mishonga mitsva, inotarirwa kune genetic anomaly, inotanga kubuda uye ichagadzirisa hutungamiri hwevarwere munguva yepakati. .
Kuwanda
La cystic fibrosis ndiro chirwere chemajini yakanyanya kuwanda muFrance ine vanhu vangangoita 6000 vakabatwa1.. Mumwe muvana vachangozvarwa vana vanobatwa nechirwere ichi. Izvo hazviwanzo kuwanikwa pakati pevatema (4 mu000) uye Oriental (1 mu13). Inobata vose varume nevakadzi. Huwandu hwevanhu vekumadokero kweFrance ndihwo hwakanyanya kukanganiswa.
La cystic fibrosis ndiro chirwere chemajini chirwere chakakomba chinowanzoitika muCanada. Mumwe muvacheche vatatu vanozvarwa anobatwa1. Cystic fibrosis ndiyo inonyanya kuwanda mukati Quebec kupfuura mune mamwe ese eCanada: 3 vekuCanada vanobatwa, kusanganisira mazana mashanu eQuebecers.
Zvinokonzera
La cystic fibrosis yakatanga kurondedzerwa muna 1936 naDr Guido Fanconi, chiremba wevana vekuSwitzerland. Jeni rine mutoro, rakanzi CFTR (ye "Cystic Fibrosis Transmembrane conductance Regulator"), harina kuzivikanwa kusvika 1989 nevatsvagiri vekuCanada. Muvanhu vanorwara, izvi gene is zvisiri izvo (tinoti anotamiswa). Iyo inokonzera kuumbwa kweklorini chiteshi inobvumira kugadzirisa hydration yemukasi. Muchiitiko chekusagadzikana muCFTR gene, iyo mabwe chigadzirwa chakanyanya kukora uye hachina kudonha sezvakajairika. Kupfuura 1 kwakasiyana shanduko muCFTR gene inobatanidzwa mucystic fibrosis yakaonekwa2, 3,4. Iwo akakamurwa kuita 6 makirasi zvichienderana nemhando dzakasiyana dzekusashanda2Pane idzi shanduko dzakawanda, iyo Delta F508 mutation, inowanikwa mu81% yevanhu vakabatwa muFrance, ndiyo yakajairika.
Cystic fibrosis haisi chirwere chinotapukira. Vanhu varidzi pathogenic kuchinja yejini reCFTR inokura hosha nokukurumidza kana kuti gare gare asi kune mwero wakasiyana-siyana wokuoma.
chirwere
Kazhinji, cystic fibrosis inoonekwa sekutanga kwegore rekutanga rehupenyu nekuti zviratidzo zvekufema kuoneka kare kare. Mu90% yezviitiko, chirwere chacho chinowanikwa vasati vasvika makore gumi.
Kuti asimbise kuongororwa, chiremba anoita a sweat test (kana sweat test). Chokwadi, ziya revanhu vane cystic fibrosis rakawanda yakanyanyiswa mumunyu (2 kusvika ku5 nguva kupfuura yakajairika). The magene ekuongorora bvumira kunyatsozivikanwa kweabnormalities muCFTR gene. Izvo zvakakosha pakufunga nezvekurapa kwakanangwa.
MuFrance, cystic fibrosis yakaongororwa zvakarongeka muvana vese vachangozvarwa kubvira 20025. Yakaratidzwa kuti kuongororwa kwepakutanga kunovandudza mararamiro ehupenyu uye hupenyu hwevana vanobatwa.Vacheche vanoongororwa mazuva matatu ehupenyu mushure mekubvumirwa kwevabereki, vasati vasunungurwa. maternity. Muedzo haupi humbowo hwechokwadi asi hunozosimbiswa kana kuregererwa nedzimwe ongororo dzakati (sweat test, genetic study).
MuQuebec, hapana kuongorora kwakarongeka yechirwere ichi. Nekudaro, iyo Canadian Cystic Fibrosis Foundation, inotsigirwa navanachiremba vakati wandei, yanga ichidaidzira kuti kuitwe kuongororwa kwevachangozvarwa kwemakore akati wandei. Kukurumidza kuonekwa kwakaratidzwa kuvandudza mararamiro ehupenyu uye hupenyu hwevana vanobatwa.
Makore ekurarama
Mune 1960s, themakore ekurarama yevana vane cystic fibrosis haina kudarika makore mashanu. Mazuvano, maererano nehuwandu hwezvino, zera rekurarama repakati makore makumi mana nemanomwe1. mweya wekufema chinoramba chiri chisakiso chikuru cherufu.
Kazhinji zvinonetsa
Cystic fibrosis chirwere chinokuvadza zvishoma nezvishoma mapapu, pancreas, uye chiropa. the kuongorora kwechiremba Nekudaro, zvinobatsira kuderedza kuomarara uye kuwanda kwematambudziko.
The matambudziko ekufema ndiyo inonyanya kuitika, kusanganisira kuwedzera kwebronchi, kukonzera bronchitis, pneumonia nekudzokorora. Kune nguva dzekuwedzera kwezviratidzo zvekufema, apo varwere "vakanyanya kuwanda", vanonyanya kufema, vanorasikirwa nehuremu, kazhinji nekuda kwehutachiona. Kukuvadzwa kwokufema kunogona kutyisidzira upenyu.
Kana ari digestive system, kuvharidzirwa kwebil ducts inobvumira bile kuyerera mukati megumbo rinogona kutungamirira ku cirrhosis yechiropa. Kuvhiringidza uye progressive sclerosis ye rwatata, inogona kukonzera kudya malabsorption uye kukura kwechirwere cheshuga. Izvi zvirwere zvinowanzokonzera kushomeka kweutano manyoka akanyanya uye asingaperi. Kazhinji, kukanganisa kunogona kugadziriswa nekudya kwakakosha. Sezvineiwo, kuvharwa kwakakosha, kana kuvharika kwemukati, kunogonawo kuitika.
Kazhinji, kuyaruka kunoitika gare gare muvakomana nevasikana vane cystic fibrosis. Pakupedzisira, the kubereka ndiko yakadzikira, kunyanya muvarume vanenge vese (95%) vasina mbereko nekuda kwekuvharirwa kwevas deferens. Madunduru aya anotakura urume kubva kumachende kuenda kumatinji. Muvakadzi, kuwedzera viscosity yevaginal mucus inononoka kufamba kwesperm. Chirwere chacho chinogonawo kukanganisa nguva dzose uye nguva yakawanda ye ovulation. Kubereka kunoderera, asi mimba ichiri kukwanisika.