Idan ba tare da jarrabawar jariri, cystic fibrosis (CF) ba a gano shi ba har sai bayyanar cututtuka fara farawa kuma sun isa sosai don haifar da ci gaba da jinkiri da matsaloli na numfashi . Yawancin lokaci, wannan yana faruwa a farkon shekaru biyu na rayuwa - amma bayan lokacin da aka gano asali, an riga an yi lalacewa.
Tare da jarrabawar jariri, duk da haka, ana bincikar CF a farkon makonni na rayuwa kuma jarirai za su iya fara magani nan da nan, ta haka ne guje wa rashin abinci mai gina jiki da kuma numfashi na numfashi wanda zai yiwu ba haka ba.
Sakamakon asali da kuma kulawa da farko sun sami damar bunkasa yanayin rayuwa na mutane tare da CF. Mutane a halin yanzu suna rayuwa tare da cystic fibrosis za su iya tsammanin rayuwa a cikin shekaru talatin, amma wasu karatu sunyi la'akari da cewa jariran da aka haifa a yau tare da CF za su rayu a cikin hamsin hamsin saboda ganewar asali da mafi kyau magani.
Tsarin dubawa
Rahoton jariri don cystic fibrosis jarrabawa ne don gano yiwuwar samun cystic fibrosis. Shi ne mataki na farko a cikin wani tsari wanda ke haifar da ganewar asali na cystic fibrosis, ganewa na masu sufuri na CF, ko kuma kawar da yiwuwar biyu. Idan sakamakon binciken farko ya tabbata, wannan baya nufin wani jariri yana da cystic fibrosis. Kyakkyawan binciken yana nufin cewa dole ne a sake gwada gwaji don sanin muhimmancin sakamako mai kyau.
Mataki na farko - Rajistar Jagoran Red
Mataki na farko na jarrabawa shine jarrabawar jini wanda aka aikata kwanaki biyu bayan haihuwa.
An kori jini daga jariri kuma ya aika zuwa wani layi na gida don allon don cuta mai yawa. Binciken gwaje-gwaje na CF yana neman girman matakan wani abu da ake kira immunoreactive trypsinogen (IRT), wanda shine enzyme halitta ta pancreas. Baban da aka haifa tare da cystic fibrosis suna da matakan IRT da yawa a cikin jininsu, amma wasu yanayi na iya haifar da hawan enzyme.
Idan jarrabawar jariri na CF yana da tabbacin, wannan yana nufin cewa an sami babban matakan IRT. Kowace jiha ta yanke shawararta ta jagorancin matakan al'amuran da suka dace da IRT. Wasu jihohin suna da darajar ƙayyadaddun abin da ya zama matakin ƙira kuma wasu jihohin zaɓi ɗayan yawan matakan IRT mafi girma kowace rana.
Mataki na biyu - Nazarin gwaji
Idan jarrabawar jariri na farko na IRT ta kasance tabbatacce, yawancin jihohi sunyi wani gwaji akan jini don gano idan jariri yana da maye gurbin Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Akwai haɓaka fiye da 1,200 a fadin CFTR wanda ke haifar da cystic fibrosis. Ba abu mai amfani ko kudi ba ne don gwada dukansu, amma yawancin jihohi suna gwada yawancin maye gurbin su. Bugu da ƙari, kowace jihohi ta yanke shawarar abin da maye gurbin zasu shiga a cikin gwaji.
Idan an sake maye gurbin fadin CFTR, jaririn ya zama mai dauke da CF ko kuma yana da cutar kyariyar fibrosis. Labarin na jihar zai sanar da likitan dan jaririn da kuma a wasu jihohi, kuma za su sanar da sashen kiwon lafiya na yanki ko wata hukumar da aka amince da kuma horar da su don biyan bukatun iyali.
Idan matakan IRT sune hawan amma ba a canza maye gurbin fadin CFTR ba, za a aika sakamakon gwaje-gwaje guda biyu zuwa likitan lafiyar babba wanda zai yanke shawara idan ana buƙatar ƙarin gwaji.
Mataki na Uku - Gwajiyar Sweat
Gwajin gwajin gwagwarmaya , ko gwajin gwagwarmaya, ya kasance gwaji na zinariya wanda aka yi amfani dashi don gano asalin cystic fibrosis shekaru da yawa. Gwargwadon gwaje-gwaje na yawan gishiri a cikin gumi na mutum, wanda ya fi yadda ya kamata a cikin mutane tare da CF. An samarda abun da ya fi girma fiye da 60 mmol / lita a matsayin sakamako mai kyau.
Lokacin da likitan kulawa na farko ya karbi sakamakon binciken da jaririn ya fito daga dakin gwaje-gwaje na jihar, zai yi shawara ko an sake gwada gwaji. Idan an ɗaukaka matakan IRT amma ba a gano maye gurbi na CFTR ba, likita na farko zai iya yin gwajin gwagwarmaya ko dai kawai idan jariri yana da daya daga cikin maye gurbin da ba a taɓa haɗawa a cikin gwajin gwaji ba.
Idan jarrabawar jariri ta gano maye gurbin CFTR , likitan kulawa na farko zai umarci gwajin gwagwarmaya don sanin idan jaririn ya kamu da cutar CF. Idan gwargwadon gwajin chloride ya kasance tabbatacce, jaririn yana da cystic fibrosis kuma za'a kira shi zuwa cibiyar CF don ya fara farawa. Idan gwaje-gwajen kwayoyin bayyana wani maye gurbin a cikin sifa na CFTR amma gurasar gwajin chloride gwagwarmaya ne mummunan, jaririn yana mai dauke da CF amma ba shi da cutar kuma baya buƙatar magani. A kowane hali, ana ba da shawarwari na kwayoyin halitta tare da iyalin don bayyana fasali na tsawon lokaci.
Source:
Goau, AM, PhD, Accurso, FJ, MD, White, TB, PhD, Campbell, III, PW, MD, Hoffman, G., BS, Parad, RB, MD, MPH, Wilfond, BS, MD, Rosenfeld, M ., MD, MPH, Sontag, MK, PhD, Massie, J., MBBS, FRACP, PhD, Farrell, PM, MD, PhD, da O'Sullivan, BP, MD. "Sharuɗɗa don aiwatar da Shirye-shiryen Shirye-shiryen Cutar Fibrosis na Cystic: Cystic Fibrosis Foundation Workshop Report". Pediatrics. 2007. 119: 2 e495-e518. 6 Yuli 2008.