La i-cystic fibrosis, Kubizwa futhi i-cystic fibrosis, yisifo sofuzo esizibonakalisa kakhulu ngokuthi izimpawu zokuphefumula nokugaya ukudla.

Kuyisifo sofuzo esivame kakhulu kubantu baseCaucasus (isigameko esicishe sibe ngu-1/2500).

I-Cystic fibrosis ibangelwa ukuguqulwa kofuzo, i Uhlobo lwe-CFTR, okubangela ukungasebenzi kahle kwephrotheni i-CFTR, ehilelekile ekulawuleni ukushintshana kwama-ion (i-chloride ne-sodium) phakathi kwamaseli, ikakhulukazi ezingeni le-bronchi, amanyikwe, amathumbu, amashubhu e-seminiferous nezindlala zokujuluka. . Imvamisa, izimpawu ezinzima kakhulu ukuphefumula (izifo, ukuphefumula kanzima, ukukhiqizwa kwamafinyila ngokweqile, njll.), i-pancreatic kanye namathumbu. Ngeshwa, okwamanje akukho ukwelashwa okwelaphayo, kodwa ukwelashwa kusenesikhathi kuthuthukisa izinga lempilo (ukunakekelwa kokuphefumula nokondleka kahle) futhi kulondoloza ukusebenza kwezitho zomzimba ngangokunokwenzeka.

Lesi sifo siyingozi kakhulu kusukela ebuntwaneni futhi sidinga ukwelashwa kusenesikhathi. Kungalesi sizathu ukuthi eFrance, zonke izingane ezisanda kuzalwa ziyazuza ekuhloleni i-cystic fibrosis, phakathi kwezinye izimo. E-Canada, lokhu kuhlolwa kunikezwa kuphela e-Ontario nase-Alberta. I-Quebec ayizange isebenzise ukuhlolwa okuhlelekile.

Ukuhlolwa kwenziwa njengengxenye yokuhlolwa kwezifo ezahlukahlukene ezingandile kwabangu-72st Ihora lokuphila kwezingane ezisanda kuzalwa, kusukela kusampula yegazi elithathwe ngokuhlaba isithende (ukuhlolwa kweGuthrie). Akukho ukulungiselela okudingekayo.

Iconsi legazi lifakwa ephepheni lokuhlunga elikhethekile, bese lomiswa ngaphambi kokuba lithunyelwe elabhorethri yokuhlola. Elabhorethri, kwenziwa ukuhlolwa kwe-trypsin (TIR) ​​okuyi-immunoreactive. Le molekyuli ikhiqizwa kusuka ku-trypsinogen, yona ngokwayo ehlanganiswe yi- amanyikwe. Kanye emathunjini amancane, i-trypsinogen iguqulwa ibe i-trypsin esebenzayo, i-enzyme edlala indima ekugayweni kwamaprotheni.

Ezinsaneni ezisanda kuzalwa nge i-cystic fibrosis, i-trypsinogen inobunzima bokufinyelela emathunjini ngenxa yokuthi ivalwe kumanyikwe ngenxa yokuba khona kwamafinyila aminyene ngendlela engavamile. Umphumela: idlulela egazini, lapho iguqulwa ibe yi-trypsin “ye-immunoreactive”, bese iba khona ngamanani aphezulu ngokungavamile.

Yile molecule etholwa ngesikhathi sokuhlolwa kukaGuthrie.

Uma ukuhlolwa kubonisa ukuba khona kwenani elingavamile le I-trypsin engasebenzi kahle egazini, abazali bazothintwa ukuze umntwana osanda kuzalwa ahlolwe okwengeziwe ukuze kuqinisekiswe ukutholakala kwe-cystic fibrosis. Bese kuba umbuzo wokuthola ukuguqulwa kofuzo I-CFTR.

Ukuhlolwa okubizwa ngokuthi "umjuluko" nakho kungenziwa ukuze kutholakale ukugxila okuphezulu kwe-chlorine emjulukweni, isici sesifo.