Ngaphandle kokuhlola okusanda kuzalwa, i-cystic fibrosis (CF) ayitholakali kuze kube yilapho izimpawu ziqala ukuvela futhi zithuthukile ngokwanele ukuze zenze ukukhula okubambezelekile nezinkinga zokuphefumula . Ngokuvamile, lokhu kwenzeka eminyakeni emibili yokuqala yokuphila - kepha ngesikhathi sokuxilongwa kwenziwa, umonakalo usuvele usuwenzile.
Kodwa ngokuhlolwa kokuzalwa okusha, noma kunjalo, i-CF itholakale emasontweni ambalwa okuqala okuphila kanye nezinsana zingaqala ukwelashwa ngokushesha, ngaleyo ndlela igweme ukungondleki nokucindezeleka okuphefumulayo okungenakugwemeka.
Ukuxilongwa kokuqala kanye nokwelashwa nakho kunokwandisa isikhathi sokuphila kwabantu abane-CF. Abantu okwamanje abahlala ne-cystic fibrosis bangalindela ukuba baphile phakathi no-30, kodwa ezinye izibikezelo zibikezela ukuthi abantwana abazalwa namuhla abane-CF bazohlala phakathi kwabo abangamashumi amahlanu ngenxa yokuxilongwa kokuqala nokuphathwa kangcono.
Inqubo Yokuhlola
Ukuhlolwa okusanda kuzalwa kwe-cystic fibrosis kuyisivivinyo sokuthola ukuthi kungenzeka ukuba ne-cystic fibrosis. Yisinyathelo sokuqala esimweni esizoholela ekuxilongweni kwe-cystic fibrosis, ukuhlonza ama-CF abathwali, noma ukuqeda kokubili amathuba. Uma imiphumela yokuhlolwa kokuqala ihamba kahle, lokho akusho ukuthi umntwana une-cystic fibrosis. Ukuhlolwa okuhle kusho ukuthi ukuhlolwa okunye kufanele kwenziwe ukuze kunqume ukubaluleka komphumela omuhle.
Isinyathelo sokuqala - Ukukhulisa i-Flag Flag
Isinyathelo sokuqala sokuhlolwa kwezingane ezisanda kuzalwa ukuhlolwa kwegazi okwenziwa ezinsukwini ezimbalwa emva kokuzalwa.
Igazi lithathwe kusuka emntwaneni bese lithunyelwa ebhokisini lombuso ukuze libuke izifo eziningana. Ukuhlolwa kokuhlola kwe-CF kubheka amazinga aphezulu wezinto ezibizwa ngokuthi i-immunoreactive trypsinogen (IRT), okuyinto enzyme eyenziwa ama-pancreas. Izingane ezizalwa nge-cystic fibrosis zivame ukuba namazinga aphakeme we-IRT egazini labo, kodwa ezinye izimo zingenza ukuba ne-enzyme iphakanyiswe.
Uma ukuhlolwa kokuzalwa kwe-CF kulungile, lokho kusho ukuthi amazinga aphezulu we-IRT atholakale. Umbuso ngamunye ubeka iziqondiso zawo ezijwayelekile namazinga angavamile we-IRT. Amanye amazwe anenani elinqunyiwe elenza izinga elihle kanti abanye bathi ukhethe amaphesenti amazinga aphezulu we-IRT abikwe nsuku zonke.
Isinyathelo Sesibili - Ukuvivinya I-Genetic
Uma ukuhlolwa kokuzalwa okusha kwe-IRT kulungile, iziningi zenza olunye uvivinyo egazini ukuze zithole ukuthi ingane ishintshe yini i-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Kunezinguquko ezingaphezu kwezingu-1 200 ezaziwa ezigayeni ze-CFTR ezibangelwa i-cystic fibrosis. Akukona okwenzekayo noma okusemandleni ukuhlolwa kubo bonke, kodwa iningi lihlola ukushintshwa kwezinto eziningana kakhulu. Futhi, isimo ngasinye sinquma ukuthi yiziphi izinguquko ezizofaka phakathi kwephaneli yokuhlola.
Uma ukuguqulwa kwegciwane le-CFTR kutholakala, umntwana ungumthumeli we-CF noma unesifo se-cystic fibrosis. Ilebhu yombuso izokwazisa udokotela oyinhloko yomntwana nakwamanye amazwe, azokwazisa umnyango wezempilo noma wesinye isifunda esivunyelwe futhi siqeqeshelwe ukuhlinzeka ngokulandelwa nemindeni.
Uma amazinga e-IRT ephakanyisiwe kepha akukho ukuguqulwa kwegciwane le-CFTR elitholakalayo, imiphumela yezivivinyo zombili zithunyelwa kudokotela wezinsizakalo eziyinhloko ezomnakekeli ozonquma uma kudingeka ukuhlolwa okwengeziwe.
Isinyathelo Esithathu - Isivivinyo Sokuthumba
Ukuhlolwa kwe- chloride yokujuluka , noma ukuhlolwa kwe-sweat, bekuyi-test standard yegolide esetshenziselwa ukuxilonga i-cystic fibrosis iminyaka eminingi. Ukuhlolwa kulinganisa inani losawoti emthunzini womuntu, ophakeme kunalesivamile kubantu abane-CF. Okuqukethwe kwe-chloride engaphezu kuka-60 mmol / ilitha kuthathwa njengomphumela omuhle.
Uma udokotela oyinhloko ekunakekeleni athola imiphumela yokuhlolwa okusanda kuzalwa kusukela ebhokisini labasebenzi, uzokhipha isinqumo sokuthi ukuhlolwa okunye kufanele kwenziwe. Uma amazinga we-IRT ephakanyisiwe kodwa akukho ukuguqulwa kwe-CFTR okutholiwe, udokotela oyinhloko angalawula ukuhlolwa kwe-sweat noma kunjalo uma ingane ingenye yezinguquko ezingavamile ezingafakwanga kuphaneli lokuhlola izakhi.
Uma ukuhlolwa kokuzalwa okusha kutholakala ukuguqulwa kwe-CFTR , udokotela oyinhloko uyodala ukuhlolwa kwe-sweat ukuze anqume ukuthi umntwana unesifo se-CF. Uma ukuhlolwa kwe-chloride yokujuluka kulungile, umntwana une- cystic fibrosis futhi ngokuvamile uzothunyelwa esikhungweni se-CF esivunyelwe ukuqala ukwelashwa. Uma ukuhlolwa kofuzo kuveza ukuguqulwa kwegciwane le-CFTR kodwa ukuhlolwa kwe-sweat chloride akubi, umntwana uyisithwala se-CF kodwa akanayo isifo futhi akadingi ukwelashwa. Kunoma yikuphi, ukululekwa ngokwezakhi zofuzo kuvame ukuqhutshwa nomndeni ukuchaza impendulo yesikhathi eside semiphumela.
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-MD, i-MP, i-Wilfond, i-BS, i-MD, i-Rosenfeld, i-M ., MD, MPH, Sontag, MK, PhD, Massie, J., MBBS, FRACP, PhD, Farrell, PM, MD, PhD, no-O'Sullivan, BP, MD. "Imihlahlandlela Yokusetjenziswa Kwezinhlelo Zokuhlola Ukuzalwa Kwasanda Kuzalwa (Cystic Fibrosis): I-Cystic Fibrosis Foundation Workshop Report". Izingane zokwelapha. 2007. 119: 2 e495-e518. 6 Julayi 2008.