La cystic fibrosis, Inonziwo cystic fibrosis, chirwere chemajini chinozviratidza kunyanya ne zviratidzo zvekufema uye kugaya.

Ichi ndicho chirwere chinowanzo zivikanwa muvanhu veCaucasian mavambo (chiitiko che 1/2500).

Cystic fibrosis inokonzerwa nekushanduka kwejeni, iyo CFTR gene, izvo zvinokonzera kusashanda zvakanaka kweprotein CFTR, inobatanidzwa mukugadzirisa kuchinjana kweion (chloride nesodium) pakati pemasero, kunyanya pamwero webronchi, pancreas, ura, seminiferous tubes uye gland glands. . Kazhinji, zviratidzo zvakakomba ndezvekufema (utachiona, kutadza kufema, kugadzirwa kwemachuru zvakanyanya, etc.), pancreatic uye intestinal. Nehurombo, pari zvino hapana kurapwa kwekurapa, asi kurapwa kwekutanga kunovandudza hupenyu (yekufema uye kudya kunovaka muviri) uye inochengetedza kushanda kwenhengo zvakanyanya sezvinobvira.

Chirwere ichi chinogona kunge chakakomba kubva paudiki uye chinoda kurapwa kwekutanga. Nechikonzero ichi kuti muFrance, vese vacheche vanobatsirwa nekuongorora cystic fibrosis, pakati pemamwe mamiriro. MuCanada, bvunzo iyi inongopihwa muOntario neAlberta. Quebec haina kuita yakarongeka yekuongorora.

Muedzo unoitwa sechikamu chekuongororwa kwezvirwere zvakasiyana zvisingawanzo pa72st nguva yehupenyu muvana vachangozvarwa, kubva kusampuli yeropa inotorwa nekubaya chitsitsinho (Guthrie test). Hapana kugadzirira kunodiwa.

Donhwe reropa rinoiswa papepa rakakosha resefa, uye roomeswa risati raendeswa kukiribhoritari. Murabhoritari, bvunzo ye immunoreactive trypsin (TIR) ​​inoitwa. Iyi molecule inogadzirwa kubva ku trypsinogen, iyo pachayo yakagadzirwa ne pancreas. Kamwe mudumbu diki, trypsinogen inoshandurwa kuita trypsin inoshanda, enzyme inoita basa mukugayiwa kwemapuroteni.

Muvacheche vane cystic fibrosis, trypsinogen inonetseka kusvika muura nekuti yakavharika murwatata nekuvapo kwemukobvu wakakora zvisina mwero. Mhedzisiro: inopinda muropa, iyo inoshandurwa kuita "immunoreactive" trypsin, iyo inobva yavapo muhuwandu husingawanzoitiki.

Iri molekuru ndiro rinoonekwa panguva yekuedzwa kwaGuthrie.

Kana bvunzo inoratidza kuvepo kwehuwandu husina kujairika hwe immunoreactive trypsin muropa, vabereki vanozobatwa kuti mwana achangozvarwa aendeswe kumwe kuongororwa kuti aone kuti ane cystic fibrosis. Iri zvino mubvunzo wekuona shanduko (s) yejini CFTR.

Iyo inonzi "sweat" bvunzo inogonawo kuitwa kuti ione kuwanda kweklorini mudikita, chimiro chechirwere.