Ukuba ne-CF Gene Akusho ukuthi Unayo iCystic Fibrosis
I-cystic fibrosis yisifo esizuzwe njengefa esibangelwa ukutheleleka kwamaphaphu nesinus, ukwehluleka ukuphumelela njengenkinga yezinsana nokugaya njenge-oily, izitshalo ezisuka kumafutha okugcoba emanzini noma ekuqotheni okukhulu.
Ake sihlole iphethini yefa le-cystic fibrosis, kanye namathuba okubalwa komntwana okhulisa i-CF uma bobabili abazali beyi-CF abathwali.
I-Cystic Fibrosis: Izifo Ezibuyiselwayo Zokuzivocavoca
Wonke umuntu unama-chromosomes angu-23 esitokisini ngasinye. Kulawo ma-pair amabili, umbhangqwana owodwa yi-chromosomes yobulili (i-X chromosome ne-Y chromosome) kanye namanye ama-chromosomes angu-22 abizwa ngokuthi ama-autosomes.
I-pair ngayinye ye-chromosome iqukethe izakhi zofuzo ezifanayo, kodwa hhayi ngempela ikhodi efanayo yesakhi. Isibonelo, kokubili ama-chromosomes kulabo abathinta umbala wezinwele bazoqukatha igenefu lombala, kodwa omunye angase abe mnyama futhi omunye abe nembala.
I-cystic fibrosis ibangelwa ukuguqulwa kwegciwane le-cystic fibrosis transmembrane regulator (CFTR). Uma ungumthumeli we-CF, kusho ukuthi enye yezinhlobo zakho ze-CFTR ijwayelekile, kanti enye iqukethe ukuguqulwa okuyaziwa ukuthi kubangelwa i-cystic fibrosis.
I-fibrosis ye-cystic iyenzeka kuphela lapho kokubili amakhophi wegciwane le-CFTR equkethe ukuguquka-yingakho i-cystic fibrosis ibizwa ngokuthi isifo sokuziqhenya se-autosomal, ngokumelene nesifo esiqine kakhulu se-autosomal (lapho ikhophi eyodwa kuphela ye-gene eguquguqukayo iyadingeka ukuze kuthuthukiswe izifo) .
I-clincher yukuthi wena nomlingani wakho bobabili abathwali be-CF, ungadlulisela i-CF kumntanakho. Lokhu kungenxa yokuthi ingane yakho izodla i-chromosome eyodwa yeqembu ngalinye kusuka kuwe, futhi eyodwa kusuka kumlingani wakho. Uma ingane yakho ithola kokubili amakhophi e-chromosome aqukethe i-CFTR gene, izoba namakhophi amabili ashintshiwe futhi azozalwa nge-cystic fibrosis.
Uma ingane yakho izuzisa i-chromosome eguquguqukayo kusuka komunye wenu nenye evamile komunye, bayoba isithwala se-CF, kodwa abanalo i-cystic fibrosis. Uma ingane yakho izuze i-chromosome evamile kokubili, iyoba namakhophi amabili avamile, okusho ukuthi akayithwali futhi ayinayo i-CF.
I-Cystic Fibrosis: Amathuba Okubalo
Nansi enye indlela yokubheka ukuthi kusho ukuthini ukuba ngumthengisi we-CF.
Inhlanganisela engenzeka ukuthi ama-CF abathwali angadlulisela kumntanakho yi:
- I-CFTR evamile kusuka kumama + ukuguqulwa kusuka kubaba = othwala
- I-CFTR evamile kusuka kubababa + ukuguqulwa komama = ukuthwala
- I-CFTR evamile kusuka kumama + CFTR evamile kusuka kubababa = hhayi othwala futhi akana CF
- Ukukhishwa kwe-CFTR kumama + kuguqule i-CFTR kusuka kubaba = i-cystic fibrosis
Uma wena kanye nomlingani wakho nisimbili sithwali, ingane yakho inamathuba angu-25 okuba ne-CF, ithuba elingamaphesenti angama-50 lokuba ngumthwali, futhi amaphesenti angama-25 amathuba okungazange abe ne-CF.
Uma umlingani wakho engekho umphathi we-CF, ngeke kwenzeke ukuthi ingane yakho ibe neCF ngoba ingathola kuphela amakhophi avamile wegciwane le-CFTR kusuka kumlingani wakho. Kodwa-ke, uma ingane yakho ithola isakhi se-CFTR eguqulwe kuwe, iyoba nethuba elingamaphesenti angama-25 lokuba ngumthwali. Kulesi simo, ingane yakho ingadlulisela isici se-CF kubantwana bayo.
Lokho Okushiwo Ukuba Umhlinzeki Wezempilo
Uma ungumthwali we-CF, ngeke ube nezimpawu ze-cystic fibrosis futhi akudingeki ukhathazeke ngokuthuthukisa lesi sifo. Ukwengeza, ukuba ngumthumeli we-CF ngeke kufinyelele isikhathi sakho sokuphila noma kunciphise nganoma iyiphi indlela (ngaphandle kokuhlela komndeni).
Uma uqala ukucabanga ngokuba nezingane , wena nomlingani wakho kufanele nifunde ukwelulekwa kwezakhi zofuzo ukuze nithole ingozi yakho ehlangene yokudlulisa i-CF kubantwana bakho esizayo. Ngokuqondile, ungabona ukuthi wena nomlingani wakho ningabaphathi be-CF ngokuhlolwa kwegazi ukuze nibheke isakhi se-CF.
Izwi elivela
I-tidbit yokugcina eyazi ukuthi ngaphambi kwezinhlelo zokuhlola izingane ezisanda kuzalwa, iningi labantu alizange lithole ukuthi baneCF baze babe nezimpawu.
Manje, uma usana luba nokuhlolwa kokuhlolwa kokuzalwa okusha kwe-CF olusha, uzothola ukuhlolwa kwe- chloride yokukhukhumeza ukuqinisekisa ukuxilongwa kwe-CF.
Ngokuhlolwa kwe-chloride ye-sweat, okuqukethwe kosawoti wesithuthuku somntwana kulinganiswa. Abantu abane-CF banezinga eliphakeme kakhulu likasawoti emthunzini wabo ngenxa yomsebenzi wokuthukuthela othukuthele.
Ngokuxilongwa kwangaphambili, ukunakekelwa ngaphansi kwethimba elikhethekile lezokwelapha le-CF kungaqaliswa ngokushesha. Leli qembu livame ukufaka odokotela (ikakhulukazi udokotela wamaphaphu enobuchwepheshe ku-CF), abahlengikazi, isazi sokufa, isazi sokuphefumula, isazi somzimba, isazi sezengqondo kanye nesisebenzi senhlalakahle.
> Imithombo:
> Torpy JM, uLynm C, i-Glass RM. I-cystic fibrosis. I-JAMA Ikhasi Lomonde. I-JAMA . 2009; 302 (10): 1130.
> I-University of Virginia Health System. (2016). I-Cystic Fibrosis.