CF Genetics: Maitiro Emageneti Ako Anokanganisa Kurapwa Kwako

Zvemukati

• Ko shanduko yemagetsi inokonzeresa sei CF?
• Ndedzipi mhando dzekuchinja dzinogona kukonzera CF?
• Kuchinja kwemajini kunochinja sei sarudzo dzekurapa?
• Ndinoziva sei kuti kurapwa kwakakodzera mwana wangu?
• Kutora

Kana mwana wako aine cystic fibrosis (CF), saka magene avo anoita chinzvimbo mune avo mamiriro. Majini chaiwo anokonzera CF yavo anozokanganisawo mhando dzemishonga dzinogona kuvashandira. Ndosaka zvichikosha kuti unzwisise chikamu chemajini chinotora muCF kana uchiita sarudzo nezve hutano hwemwana wako.

Ko shanduko yemagetsi inokonzeresa sei CF?

CF inokonzerwa nekuchinja mune iyo cystic fibrosis transmembrane kuitisa regulator (CFTRjeni. Iri jeni rinokonzera kuburitsa mapuroteni eCFTR. Kana mapuroteni aya achinge achishanda nemazvo, anobatsira kugadzirisa kuyerera kwemvura nemunyu mukati nekunze kwemasero.

Sekureva kweCystic Fibrosis Foundation (CFF), masayendisiti akaona mhando dzinopfuura chiuru nemazana manomwe dzakasiyana dzerjene dzinogona kukonzera CF. Kuti uvandudze CF, mwana wako anofanirwa kugara nhaka makopi maviri akachinjika eiyo CFTR geni - imwe kubva kumubereki wega wega.

Zvichienderana nerudzi rwakasarudzika rwekuchinja kwemagene ane mwana wako, vanogona kusakwanisa kuburitsa mapuroteni eCFTR. Mune zvimwe zviitiko, vanogona kuburitsa mapuroteni eCFTR asingashande nemazvo. Kukanganisa uku kunokonzera kuti mamasi awedzere mumapapu avo uye anovaisa panjodzi yematambudziko.

Ndedzipi mhando dzekuchinja dzinogona kukonzera CF?

Masayendisiti akagadzira nzira dzakasiyana dzekutsanangura shanduko mu CFTR geni. Ivo parizvino vanoronga CFTR gene shanduko mumapoka mashanu, zvichibva pamatambudziko avanogona kukonzera:

• Kirasi 1: protein kugadzirwa shanduko
• Kirasi 2: protein kugadzirisa kugadzirisa
• Kirasi 3: gating shanduko
• Kirasi 4: conduction shanduko
• Kirasi 5: isina kukwana protein shanduko

Iwo akasarudzika marudzi ekuchinja kwemajini ane mwana wako anogona kukanganisa zviratidzo zvavanokura. Izvo zvinogona zvakare kukanganisa avo ekurapa sarudzo.

Kuchinja kwemajini kunochinja sei sarudzo dzekurapa?

Mumakore achangopfuura, vaongorori vakatanga kuenzanisa mhando dzakasiyana dzemishonga nemhando dzakasiyana dzekuchinja mu CFTR geni. Maitiro aya anozivikanwa se theratyping. Izvo zvinogona kubatsira chiremba wemwana wako kuona kuti ndeapi marapirwo chirongwa akanakira ivo.

Zvichienderana nezera remwana wako uye genetics, chiremba wavo anogona kunyorera CFTR modulator. Iyi kirasi yemishonga inogona kushandiswa kurapa vamwe vanhu vane CF. Mhando dzakananga dzeCFTR modulators dzinongoshanda chete kune vanhu vane chaiwo marudzi e CFTR majini kuchinja.

Parizvino, iyo US Chikafu neDrug Administration (FDA) yakabvumidza matatu maCFTR modulator ekurapa:

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

Vanenge makumi matanhatu muzana yevanhu vane CF vanogona kubatsirwa nechimwe cheizvi zvinodhaka, inodaro CFF. Mune ramangwana, masayendisiti anotarisira kuvandudza mamwe maCFTR modulator ekurapa ayo anogona kubatsira vanhu vazhinji.

Ndinoziva sei kuti kurapwa kwakakodzera mwana wangu?

Kuti udzidze kana mwana wako achibatsirwa neCFTR modulator kana kumwe kurapwa, taura nachiremba wavo. Mune zvimwe zviitiko, chiremba wavo anogona kuraira bvunzo kuti adzidze zvakawanda nezve mamiriro emwana wako uye maitiro avanogona kuita kumushonga.

Kana CFTR modulators isiri iyo yakakodzera mwana wako, kumwe kurapa kunowanikwa. Semuenzaniso, chiremba wavo anogona kuraira:

• mamasi mutete
• bronchodilators
• mishonga inorwisa mabhakitiriya
• kugaya makemikari

Pamusoro pekupa mishonga, timu yehutano yemwana wako inogona kukudzidzisa maitiro ekuita nzira dzekubvisa mumhepo (maAIT) kuburitsa uye kuburitsa mamusoni kubva mumapapu emwana wako.

Kutora

Mhando dzakasiyana dzakasiyana dzekuchinja kwemajini dzinogona kukonzera CF. Iwo akasarudzika marudzi ekuchinja kwemagene ane mwana wako anogona kukanganisa zviratidzo uye chirongwa chekurapa. Kuti udzidze zvakawanda nezve sarudzo yemwana wako, taura nachiremba wavo. Muzviitiko zvakawanda, chiremba wavo anokurudzira kuongorora kwemajini.