Kukhala ndi CF Gene Sitikutanthauza Iwe uli ndi Cystic Fibrosis
Cystic fibrosis ndi matenda obadwa nawo omwe amachititsa matenda a mapapu ndi sinus, kulephera kupambana ngati khanda ndi mavuto otupa zakudya monga mafuta, zivomezi zochokera ku mafuta a malabsorption m'matumbo kapena kudzimbidwa kwakukulu.
Tiyeni tifufuze kaye kachitidwe ka cystic fibrosis, komanso mwayi wa chiwerengero cha mwana amene akukula CF ngati makolo onse ali CF othandizira.
Cystic Fibrosis: Autosomal Recessive Disease
Munthu aliyense ali ndi magulu awiri a chromosomes mu selo iliyonse. Pa awiriwa awiriwa, awiriwa ndi ma chromosome (kugonana kwa X chromosome ndi Y chromosome) ndi awiri ena awiri a chromosomes amatchedwa autosomes.
Pawiri iliyonse ya chromosome imakhala ndi majini ofanana, koma osati kwenikweni mndandanda wa ma gene. Mwachitsanzo, ma chromosome onse awiri omwe amaonetsa tsitsi la tsitsi amakhala ndi jini la mtundu, koma wina akhoza kukhala wofiirira ndi winayo.
Cystic fibrosis imayamba chifukwa cha kusintha kwa cystic fibrosis transmembrane regulator (CFTR). Ngati muli wothandizira CF, zikutanthauza kuti imodzi mwa majeremusi anu a CFTR ndi ofanana, ndipo enawo ali ndi kusintha komwe kumadziwika kuti cystic fibrosis.
Cystic fibrosis imangowoneka pamene makope onse a CFTR ali ndi kusintha-ndicho chifukwa cystic fibrosis imatchedwa autosomal recessive disease, mosiyana ndi matenda akuluakulu a autosomal (yomwe ndi imodzi yokha ya mutated gene yomwe ikufunika kuti chitukuko cha matenda) .
The clincher ndi ngati inu ndi onse awiri CF ogwira, mukhoza kudutsa CF kwa mwana wanu. Izi ndi chifukwa chakuti mwana wanu adzalandira chromosome imodzi ya awiriwa kuchokera kwa inu, ndi wina kuchokera kwa mnzanuyo. Ngati mwana wanu atenga ma chromosome onse okhala ndi CFTR gene, iwo adzakhala ndi makope awiri osinthika ndipo adzabadwa ndi cystic fibrosis.
Ngati mwana wanu adzalandira chromosome yosinthidwa kuchokera kwa inu ndi yachibadwa kuchokera kumzake, iwo adzakhala chithandizo cha CF, koma alibe cystic fibrosis. Ngati mwana wanu adzalandira chromosome yachibadwa kuchokera kwa inu nonse, adzakhala ndi makope awiri abwino, kutanthauza kuti samanyamula kapena alibe CF.
Cystic Fibrosis: Zomwe Zikugwirizana
Nayi njira yina yowonera zomwe zimatanthauza kukhala chithandizo cha CF.
Zomwe zingatheke kuti azimayi awiri a CF angapereke kwa mwana wawo ndi awa:
- CFTR yachibadwa kuchokera kwa mayi + kusintha kuchokera kwa bambo = chonyamulira
- CFTR yachibadwa kuchokera kwa bambo + kusintha kuchokera kwa mayi = chonyamulira
- CFTR yachibadwa kuchokera kwa mayi + yachibadwa CFTR kuchokera kwa bambo = osati chotengera ndipo alibe CF
- Kuchulukitsa CFTR kuchokera kwa amayi + kunasintha CFTR kuchokera kwa bambo = cystic fibrosis
Ngati inu ndi mnzanuyo muli zonyamulira zonse, mwana wanu ali ndi mwayi wokhala ndi CF, peresenti yokwana 50 peresenti yokhala chonyamulira, ndipo 25 peresenti sakhala ndi kutenga CF.
Ngati mnzanuyo sali wothandizira CF, sikungatheke kuti mwana wanu akhale ndi CF chifukwa akhoza kutenga ma copies omwe ali ndi CFTR kuchokera kwa mnzanuyo. Komabe, ngati mwana wanu atalandira kachilombo ka CFTR yosinthika kuchokera kwa inu, iye adzakhala ndi mwayi wa 25 peresenti yokhala chotengera. Pachifukwa ichi, mwana wanu amatha kupatsira khalidwe la CF kwa ana awo.
Zomwe Zimatanthauza Kukhala Wothandizira Zaumoyo
Ngati muli wothandizira CF, simudzakhala ndi zizindikiro za cystic fibrosis ndipo musadandaule za matendawa. Kuwonjezera apo, kukhala wothandizira CF sikufupikitsa moyo wanu wa moyo kapena kukupatsani njira iliyonse (kupatulapo kulera).
Mukayamba kuganiza za kukhala ndi ana , inu ndi mnzanuyo muyenera kufufuza uphungu wokhudzana ndi majini kuti mudziwe momwe mungapezere chiopsezo chotengera ana anu a m'tsogolo. Mwapadera, mukhoza kuona ngati inu ndi mnzanuyo muli odwala CF mwa kuyesa magazi kuti muyang'ane CF gene.
Mawu Ochokera
Chodziwikiratu chomaliza ndicho kudziwa kuti mapulogalamu oyambirira owonetsa ana asanabadwe, anthu ambiri sanapeze kuti ali ndi CF mpaka atakhala ndi zizindikiro.
Tsopano, ngati mwana wakhanda ali ndi kachilombo ka HIV kamene kamayesedwa, adzalandira chloride test test kuti atsimikizidwe kuti ali ndi CF.
Ndi thukuta la chloride, kuyamwa kwa thukuta la mwanayo kumayesedwa. Anthu omwe ali ndi CF ali ndi mchere wambiri mwa thukuta chifukwa cha kutaya thukuta.
Ndichidziwitso choyambirira, chisamaliro pansi pa gulu lapadera lachipatala cha CF chingayambe mwamsanga. Gululi nthawi zambiri limaphatikizapo madokotala (makamaka dokotala wa mapapo ndi luso la CF), anamwino, katswiri wa zakufa, wodwala kupuma, wodwala, katswiri wa zamaganizo, ndi wogwira nawo ntchito.
> Zotsatira:
> Torpy JM, Lynm C, Glass RM. Cystic fibrosis. JAMA Tsamba Page. JAMA . 2009; 302 (10): 1130.
> Yunivesite ya Virginia Health System. (2016). Cystic Fibrosis.