La cystic fibrosis, Haka kuma ake kira cystic fibrosis, cuta ce ta gado wacce ke bayyana kanta musamman ta hanyar alamun numfashi da narkewar abinci.

Ita ce mafi yawan cututtukan ƙwayoyin cuta a cikin al'ummomin asalin Caucasian (haɗu da kusan 1/2500).

Cystic fibrosis yana faruwa ne ta hanyar maye gurbi a cikin kwayoyin halitta, da Farashin CFTR, wanda ke haifar da tabarbarewar furotin CFTR, wanda ke da hannu wajen daidaita tsarin musayar ions (chloride da sodium) tsakanin kwayoyin halitta, musamman a matakin bronchi, pancreas, hanji, tubes na seminiferous da glandon gumi. . Mafi sau da yawa, mafi tsanani bayyanar cututtuka su ne numfashi (cututtuka, wahalar numfashi, wuce gona da iri samar da gamsai, da sauransu), pancreatic da hanji. Abin takaici, a halin yanzu babu maganin warkewa, amma maganin farko yana inganta ingancin rayuwa (kulawan numfashi da abinci mai gina jiki) kuma yana kiyaye aikin gabobin jiki gwargwadon yiwuwar.

Wannan cuta mai yuwuwa ce mai tsanani tun lokacin ƙuruciya kuma tana buƙatar kulawa da wuri. A saboda wannan dalili ne a Faransa, duk jarirai suna amfana daga yin gwajin cystic fibrosis, a tsakanin sauran yanayi. A Kanada, ana ba da wannan gwajin a cikin Ontario da Alberta kawai. Quebec ba ta aiwatar da bincike na tsari ba.

An gudanar da gwajin a matsayin wani ɓangare na gwajin cututtuka daban-daban da ba kasafai ba a cikin 72st sa'a na rayuwa a cikin jarirai, daga samfurin jini da aka ɗauka ta hanyar tsinke diddige (gwajin Guthrie). Ba shiri ya zama dole.

Ana sanya digon jinin akan takarda ta musamman, kuma a bushe kafin a aika zuwa dakin gwaje-gwaje. A cikin dakin gwaje-gwaje, ana yin gwajin immunoreactive trypsin (TIR). An samar da wannan kwayar halitta daga trypsinogen, wanda aka hada shi da kansa pancreas. Sau ɗaya A cikin ƙananan hanji, trypsinogen yana canzawa zuwa trypsin mai aiki, wani enzyme wanda ke taka rawa a cikin narkewar sunadaran.

A cikin jarirai tare da cystic fibrosis, trypsinogen yana da wahalar isa hanji saboda yana toshewa a cikin pancreas saboda kasancewar gamsai mai kauri. Sakamakon: yana shiga cikin jini, inda aka canza shi zuwa trypsin "immunoreactive", wanda yake samuwa a cikin adadi mai yawa.

Wannan kwayar halitta ce aka gano yayin gwajin Guthrie.

Idan gwajin ya nuna kasancewar ƙarancin adadin immunoreactive trypsin a cikin jini, za a tuntubi iyaye don a yi wa jaririn da aka haifa ƙarin gwaje-gwaje don tabbatar da ganewar cutar cystic fibrosis. Sannan tambaya ce ta gano maye gurbi (s) na kwayoyin halitta Farashin CFTR.

Hakanan za'a iya yin gwajin abin da ake kira "sweat" don gano yawan adadin chlorine a cikin gumi, halayyar cutar.