CF Genetics: Koj Li Cas Hauv Koj Lub Cev Muaj Feem Xyuam Tau Kho Koj

Zoo Siab

• Kev hloov caj dab ua rau mob CF li cas?
• Hom kev hloov pauv twg tuaj yeem ua rau CF?
• Kev hloov pauv ntawm noob caj noob ces cuam tshuam txog kev kho mob li cas?
• Kuv yuav paub tau li cas tias kev kho mob zoo rau kuv tus menyuam?
• Cov nqa mus

Yog tias koj tus menyuam mob cystic fibrosis (CF), ces lawv cov caj ces muaj feem rau hauv lawv qhov mob. Cov caj ces tshwj xeeb uas ua rau lawv CF yuav tseem cuam tshuam rau cov hom tshuaj uas yuav ua haujlwm rau lawv. Yog vim li cas nws thiaj tseem ceeb kom koj nkag siab txog cov genes ua si hauv CF thaum txiav txim txog koj tus menyuam txoj kev noj qab haus huv.

Kev hloov caj dab ua rau mob CF li cas?

Tus mob CF yog tshwm sim los ntawm kev sib pauv hauv cystic fibrosis transmembrane conductance regulator (CFTR) noob. Tus gene no yog lub luag haujlwm tsim cov nqaij CFTR. Thaum cov roj ntsha no ua haujlwm tau zoo, lawv pab tswj cov dej thiab ntsev mus rau hauv thiab tawm hauv cov hlwb.

Raws li Cystic Fibrosis Foundation (CFF), cov kws tshawb fawb tau txheeb pom ntau dua 1,700 ntau hom kev hloov pauv hauv cov gene uas tuaj yeem ua rau CF. Txhawm rau tsim CF, koj tus menyuam yuav tsum tau txais ob daim qauv sib pauv ntawm cov CFTR gene - ib tug los ntawm leej niam leej txiv ob leeg.

Ua raws li hom kev hloov caj ces uas koj tus menyuam muaj, tej zaum lawv yuav tsis tuaj yeem tsim CFTR protein. Hauv lwm qhov xwm txheej, lawv yuav tsim cov CFTR protein uas tsis ua haujlwm zoo. Cov kev tsis zoo no ua rau cov hnoos qeev tsim hauv lawv lub ntsws thiab ua rau lawv muaj kev phom sij.

Hom kev hloov pauv twg tuaj yeem ua rau CF?

Cov kws tshawb fawb tau tsim txoj hauv kev sib txawv rau kev faib cov kev sib pauv hauv Phau Ntawv Askiv CFTR noob. Lawv tam sim no txheeb CFTR kev hloov pauv mus rau tsib pawg, raws cov teeb meem lawv tuaj yeem ua rau:

• Hoob 1: hloov pauv hloov khoom protein ntau
• Chav kawm 2: kev hloov pauv hloov protein
• Chav kawm 3: kev sib daj sib deev
• Hoob kawm 4: kev hloov pauv kom zoo
• Chav kawm 5: hloov cov protein tsis txaus

Hom kev hloov caj ces tshwj xeeb uas koj tus menyuam muaj feem cuam tshuam rau cov kev mob tshwm sim. Nws tseem tuaj yeem cuam tshuam lawv cov kev kho mob.

Kev hloov pauv ntawm noob caj noob ces cuam tshuam txog kev kho mob li cas?

Xyoo tsis ntev los no, cov neeg tshawb nrhiav tau pib sib txawv ntawm ntau yam tshuaj rau ntau hom kev hloov kho hauv CFTR noob. Txoj kev no yog hu ua theratyping. Nws tuaj yeem pab koj tus menyuam tus kws kho mob txiav txim siab txog hom kev kho mob twg zoo rau lawv.

Ua raws li koj tus menyuam lub hnub nyoog thiab noob caj noob ces, lawv tus kws kho mob yuav sau ntawv rau CFTR modulator. Qeb tshuaj no tuaj yeem siv los kho qee tus neeg mob CF. Qhov tshwj xeeb hom CFTR modulators tsuas yog ua haujlwm rau cov tib neeg nrog hom tshwj xeeb ntawm CFTR hloov pauv noob.

Txog tam sim no, Tebchaws Asmeskas Cov Khoom Noj thiab Tshuaj Siv Tshuaj (FDA) tau pom zoo rau peb txoj kev kho CFTR:

• ivacaftor (Kalydeco) |
• lumacaftor / ivacaftor (Orkambi)
• tezacaftor / ivacaftor (Symdeko)

Li ntawm 60 feem pua ​​ntawm cov neeg uas tau mob CF tuaj yeem tau txais txiaj ntsig los ntawm ib qho ntawm cov tshuaj no, ceeb toom CFF. Hauv lub neej yav tom ntej, cov kws tshawb fawb vam tias yuav tsim kho lwm yam kev qhia CFTR uas kho dua tshiab uas tuaj yeem pab tau ntau tus neeg.

Kuv yuav paub tau li cas tias kev kho mob zoo rau kuv tus menyuam?

Txhawm rau paub seb koj tus menyuam puas yuav tau txais txiaj ntsig los ntawm CFTR tus kws zaws lossis lwm txoj kev khomob, nrog lawv tus kws kho mob tham. Muaj qee kis, lawv tus kws kho mob yuav xaj kom kuaj xyuas koj tus menyuam tus mob ntau npaum li cas thiab lawv yuav ua li cas rau cov tshuaj.

Yog tias CFTR cov qauv tsim kho tsis haum rau koj tus menyuam, muaj lwm yam kev kho mob rau. Piv txwv li, lawv tus kws kho mob yuav sau ntawv tias:

• hnoos qeev thinners
• voos tshaus
• tshuaj tua kab mob
• hnyuv enzymes

Ntxiv nrog rau kev sau tshuaj, pab neeg saib xyuas kev noj qab haus huv tuaj yeem qhia koj kom paub ua li cas kev ua pa ua pa (ACTs) txhawm rau txhaws thiab tso quav tawm ntawm koj tus menyuam lub ntsws.

Cov nqa mus

Ntau ntau hom kev hloov tau raws caj ces tuaj yeem ua rau CF. Hom kev hloov caj ces tshwj xeeb uas koj tus menyuam muaj feem cuam tshuam rau nws cov tsos mob thiab phiaj xwm kho mob. Txhawm rau kawm paub ntau ntxiv txog koj cov kev xaiv kho mob, tham nrog lawv tus kws kho mob. Feem ntau, lawv tus kws kho mob yuav pom zoo kom kuaj caj ces.