Ngaphandle kokuhlolwa kwintsana, i-cystic fibrosis (CF) ayifumananga ukuba impawu ziqale ukuvela kwaye zithuthukile ngokwaneleyo ukudala ukukhula okulibazisekile kunye neengxaki zokuphefumula . Ngokuqhelekileyo, oku kwenzeka kwiminyaka emibili yokuqala yobomi - kodwa ngexesha lokuxilongwa lwenziwa, umonakalo sele usuyenziwe.
Nangona ukuzalwa kwintsana, ke, i-CF ifunyanwe kwiiveki ezimbalwa zokuqala zobomi kunye neentsana ziza kuqala unyango ngokukhawuleza, ngoko kukuphepha ukungondleki kunye nokukhathazeka okuphefumulayo okungeke kwenzeke.
Ukuxilongwa kwangaphambili kunye nonyango kunakho ukwandisa ixesha lokuphila kwabantu abaneCF. Abantu abaphila nge-cystic fibrosis banokulindela ngokuqinisekileyo ukuba bahlala kwi-middle-thirties yabo, kodwa ezinye izifundo ziqikelela ukuba iintsana ezizalwe namhlanje ngeCF ziza kuba ngama-50 abo ngenxa yokuxilongwa kwangaphambili kunye nokunyanga okungcono.
Inkqubo yokuHlola
Ukuhlolwa kwintsana ye-cystic fibrosis kukuvavanya ukufumana ithuba lokuba ne-cystic fibrosis. Yisinyathelo sokuqala kwinkqubo ekugqibeleni ekhokelela ekuxilongweni kwe-cystic fibrosis, ukuchongwa kwezixhobo ze-CF, okanye ukuphelisa zombini amathuba. Ukuba iziphumo zovavanyo lokuqala zikhangelekile, oko akuthethi ukuba umntwana usu-cystic fibrosis. Ukuphononongwa okulungileyo kuthetha ukuba kufuneka kwenziwe uvavanyo olongezelelweyo ukuze kuqinisekiswe ukubaluleka kwesiphumo esihle.
Isinyathelo sokuqala - Ukuphakamisa i-Flag Flag
Isinyathelo sokuqala sokuhlolwa kwintsana kukuhlolwa kwegazi okwenziwa iintsuku ezimbalwa emva kokuzalwa.
Igazi litsalwe kwintsana kwaye lithunyelwa kwibhan yelizwe ukukhusela izifo ezininzi. Uvavanyo lokuhlola i-CF lubheka amanqanaba aphakamileyo yezinto ezibizwa ngokuba yi-immunoreactive trypsinogen (IRT), eyin enzyme eyenziwe yi-pancreas. Iintsana ezizalwe nge-cystic fibrosis zihlala zinamazinga aphezulu e-IRT egazini labo, kodwa ezinye iimeko zingenza ukuba ne-enzyme iphakanyiswe.
Ukuba uvavanyo olutsha olusandul 'ukuzalwa lweCF luhle, oko kuthetha ukuba amazinga aphezulu e-IRT afunyenwe. Urhulumente ngamnye ubeka izikhokelo zazo eziqhelekileyo nezingaqhelekanga ze-IRT. Amanye amazwe anexabiso elinqununu elenza iqondo elihle kwaye ezinye zichaza ukuba ipesenti yezinga eliphezulu ze-IRT libikwe ngalunye suku.
Isinyathelo sesibini - Ukuhlolwa kobuGeni
Ukuba i-IRT yokuqala yokuhlola i-IRT ifanelekile, amaninzi amaninzi enze olunye uvavanyo kwigazi ukuze afune ukuba umntwana unenguqu ye-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Kukho iinguqu ezingaphezu kwe-1,200 eyaziwayo kwi-CFTR gene eyenza i-cystic fibrosis. Akunakwenzeka okanye imali ifikeleleke ukuvavanya bonke, kodwa uninzi lwamazwe luvavanya uninzi lweenguqu eziqhelekileyo. Kwakhona, ngalinye urhulumente unquma ukuba iziphi utshintsho olubandakanya kwiphaneli yokuvavanya.
Ukuba utshintsho lwegciwane le-CFTR lufunyenwe, umntwana usenokuba ngumphathi weCF okanye unesifo se-cystic fibrosis. Lebhu yeburhulumenteni iya kwazisa ugqirha wezilwanyana kunye nakwamanye amazwe, baya kwazisa isebe lempilo le-county okanye enye i-agrari evunyelwe kwaye iqeqeshiwe ukubonelela ngokulandela iintsapho.
Ukuba amazinga e-IRT aphakanyisiwe kodwa akukho tshintsho lwegciwane le-CFTR lifunyenwe, iziphumo zovavanyo zombini zithunyelwa kumgqirha wokunakekela umntwana oyintloko oza kugqiba ukuba ngaba kuqhubeka ukuvavanywa.
Isinyathelo sesithathu - Ukuvavanya
Uvavanyo lwe- chloride , okanye uvavanyo lwe-sweat, luye luvavanyo lwe-gold standard olusetyenziswa ukuxilonga i-cystic fibrosis iminyaka emininzi. Uvavanyo lulinganisa inani leetyuwa kwisithuthuthu somntu, esiphezulu kunesiqhelo kubantu abano-CF. Umxholo we-chloride ngaphezu kwama-60 mmol / litre uthathwa njengesiphumo esihle.
Xa ugqirha wokunakekelwa ngokusisiseko ufumana iziphumo zokuhlolwa kwezesana ezisuka kwi-laboratory yesigqeba, uya kuthatha isigqibo sokuba ngaba kufuneka kwenziwe uvavanyo olongezelelweyo. Ukuba amazinga e-IRT aphakanyisiwe kodwa akukho tshintsho lwe-CFTR luye lwafunyanwa, ugqirha oyintloko angayalela ukuhlolwa kwe-sweat nanini nje ukuba umntwana usenokuba utshintsho olungaqhelekanga olungazange lufakwe kwiphaneli yokuhlola imfuzo.
Ukuba uvavanyo olusandul 'ukuzalwa lufumene ukuguqulwa kwe-CFTR , ugqirha wezononophelo oyintloko uza kululeka uvavanyo lwe-sweat ukuqinisekisa ukuba umntwana unesifo seCF. Ukuba uvavanyo lwe-chloride lukhupha, umntwana usu-cystic fibrosis kwaye uya kufakwa kwiziko le-CF eligunyazisiweyo ukuqala unyango. Ukuba ukuhlolwa kwemfuyo kubonakalisa ukuguqulwa kwimizimba ye-CFTR kodwa ukuhlolwa kwe-chloride ye-sweat ayibi, umntwana uyisithwala se-CF kodwa akanalo sifo kwaye akafunanga unyango. Kwimeko nayiphi na, ukululekwa ngokwemizimba kudlalwa rhoqo kunye nosapho ukuchazela impembelelo yexesha elide kweziphumo.
Umthombo:
I-Comeau, i-AM, i-PhD, i-Accurso, i-FJ, i-MD, i-White, i-TB, i-PhD, i-Campbell, i-III, i-PW, i-MD, i-Hoffman, i-G, i-BS, i-Parad, i-RB, i-MDH, i-Wilfond, i-BS, i-MD, i-Rosenfeld, i-M ., MD, MPH, Sontag, MK, PhD, Massie, J, MBBS, FRACP, PhD, Farrell, PM, MD, PhD, kunye no-O'Sullivan, BP, MD. "Izikhokelo zokuphunyezwa kweeCystic Fibrosis Inkqubo yokuHlola iNewborn: I-Cystic Fibrosis Foundation Workshop Report". Pediatrics. 2007. 119: 2 e495-e518. 6 uJulayi 2008.