Mankhwala atsopano a cystic fibrosis

Cystic fibrosis (cystic fibrosis) ndi imodzi mwa matenda omwe amabadwa mwa ana. Chifukwa cha kusokonekera kwa majini, kutumizidwa kwa ions kudzera membrane selo kumasokonezeka, zomwe zimabweretsa chisokonezo cha ntchito za ziwalo zambiri. Cystic fibrosis ndi matenda obwera chifukwa cha autosomal, ndiko kuti, kuti izidziwonetse, munthu ayenera kulandira makope awiri a majeremusi olakwika, mmodzi kuchokera kwa kholo lililonse. Mankhwala atsopano a cystic fibrosis angathandize pa izi.

Kuzindikira kwa cystic fibrosis

Zizindikiro ndi zizindikiro za matendawa ndizochindunji, koma zimasiyana malinga ndi kuuma kwa maphunzirowo.

Izi zikuphatikizapo:

■ Kulephera kwa pancreatic function (anawona mu 85% odwala);

■ Kuperewera kwa pulmonari ndi bronchiectasis (kuchepa kwachilendo kosasintha), komwe kumakhala chifukwa cha kusungunuka kwakumatira pampu mu njira yopuma;

Kulephera kwa magazi kumagwirizanitsa ndi ntchito yosagwira ntchito yomwe imayambitsa kulemera ndi kulemera kwa thupi.

M'banja lomwelo, kupweteka kwa mapapu kuwonongeka kwa ana kungakhale kosiyana, koma kuperewera kwa pancreatic nthawi zambiri kumakhala kofanana. Matendawa ndi chimodzi mwa zifukwa zomwe zimayambitsa imfa ya odwala cystic fibrosis. Kaŵirikaŵiri izi zimachokera ku matenda a bakiteriya omwe sali ovomerezeka kuchipatala. Kusungunuka kwa ntchentche yothamanga mumlengalenga kumapangitsa kuti zinthu ziziyenda bwino pakukula kwa tizilombo toyambitsa matenda. Anthu omwe akudwala cystic fibrosis amatha kutenga kachilombo koyambitsa matenda ndi bacterium Pseudomonas aeruginosa. Maselo abwino a m'mapapo amatha kulimbana ndi tizilombo toyambitsa matenda. Odwala omwe ali ndi cystic fibrosis, ntchitoyi ndi yovuta, zomwe zimapangitsa kuti pakhale chithandizo chachikulu cha matenda a pulmonary.

Kuchiza kwa cystic fibrosis

Kupititsa patsogolo njira za chithandizo cha cystic fibrosis, kuphatikizapo antibiotic ndi physiotherapy, zomwe zathandiza kuthetsa mapapu a ntchentche, zakhala zikuwonjezereka kuwerengetsera moyo wa odwala mpaka zaka 30. Odwala ambiri omwe ali ndi cystic fibrosis ndi osawuka. Chifukwa cha kusabereka kwa amuna kumakhala kusabwereka kwa vas deferens, mazira omwe umuna umabwera kuchokera m'matumbo mu urethra. Kwa amayi, kusabereka kumagwirizanitsidwa ndi kukhalapo kwachilendo chosachiritsika m'thupi. Komabe, pakadali pano odwala amenewa akhoza kukhala ndi ana mothandizidwa ndi insemination yopanga. Pakati pa anthu oimira mtundu woyera wa Ulaya, mmodzi pa anthu 25 ali ndi chithandizo cha jini ya cystic fibrosis. Popeza kuti jini ndiloperewera kwambiri, liyenera kukhala lochokera kwa makolo onse awiri kuti liwonetsedwe. Pakati pa oimira mtundu woyera wa European, wonyamula kachilombo koyambitsa matenda a cystic fibrosis pafupifupi 1 munthu mmodzi pa 25. Anthu otchedwa heterozygous. Alibe zizindikiro za matendawa komanso chiopsezo chokhala ndi cystic fibrosis. Mwa anthu oterowo, mwayi woti onse awiri omwe ali nawo awiriwa adzakhala ogwira ntchito ya jini yolakwika ndi 1: 400 (ndiko kuti, awiri pa 400). Wonyamula aliyense ali ndi chiopsezo cha 50% chofalitsa mwana wa mwana aliyense. Ngati onse awiri awiriwa ali ndi zonyamulira, mwana aliyense ali ndi chithunzi chowonekera choopsa cha kubadwa kwa jini lopanda vuto.

■ Ngozi ya cystic fibrosis chifukwa cha cholowa cha majini awiri osowa ndi 1: 4.

■ Vuto lokhala ndi chithandizo cha jini loperewera pokhala ndi jini imodzi yolakwika ndi yeniyeni yeniyeni ndi 1: 2.

■ Mpata wokhala ndi jini ziwiri zowonongeka ndikukhalabe wosakhudzidwa ndi jini loperewera-1: 4.

Anthu omwe adzalandira majeremusi awiri ofooka amatchedwa homozygous, ndipo omwe anabadwa ndi jini imodzi ndi heterozygous, kapena carriers. Onyamula katundu ali ndi chiopsezo chokhala ndi mwana wodwala ngati wokondedwa wawo nayenso ali ndi jini yolakwika. Anthu omwe sali onyamula jini sali pachiopsezo chotenga matendawa kwa ana awo amtsogolo. Mabanja, omwe aliyense ali ndi chithandizo, ali ndi mwayi wa 1: 4 kuti ali ndi mwana wodwala. Kuwopsa kwa matendawa kumasiyana mosiyanasiyana. Odwala ambiri amawapeza asanakwanitse chaka chimodzi, koma matenda ochepa amatha kupezeka m'zaka zapakati, nthawi zina mwachisawawa, akayesedwa chifukwa cha kusabereka. Mchere wochulukirapo pa khungu ungakhale chizindikiro cha matenda a cystic fibrosis. "Mayeso amasiku ano" ndi ofanana kwambiri ndi azimayi omwe adanyambita pamphumi la mwana wakhanda kuti azindikire mchere wambiri mwa thukuta. Ngakhale zinali zodziwikiratu kuti mchere wamtunduwu ndi chizindikiro cha kuperewera kwa pulmonari. Cystic fibrosis ndi imodzi mwa matenda obadwa mwa odwala ambiri omwe amaimira oyeramtima a European white race ndipo amapezeka pafupifupi ana 1 mwa ana 400 obadwa. Si mitundu yonse yomwe ili ndi chiŵerengero chokwanira kwambiri. Mwachitsanzo, mwa oimira dziko la Puerto Rico kapena Latino, chiwerengerochi ndi chiwerengero cha ana 9,500 obadwa kumene, ndi Afirika ndi Asiya, osachepera 1 pa ana 50,000 obadwa. Amitundu ambiri amaphunzira kuti ali ndi chiŵerengero chochepa kusiyana ndi oimira European White race. Komabe, zimakhala zovuta kufotokoza kuchuluka kwa nthendayi pakati pa anthu osakanikirana. Pafupifupi 25 peresenti ya anthu okhala kumpoto kwa Ulaya ndi omwe amanyamula chiwalo cholakwika cha cystic fibrosis. Mwachitsanzo, ku UK, matendawa amapezeka mu mwana mmodzi (1) kuchokera pa kubadwa 4,000 (kuphatikizapo ana a mafuko ena, kupatula oyera).