Ugutwi ni igikoresho cy'ingenzi mu mubiri w'umuntu, gikora uruhare mu kubungabunga ubushobozi bwo kumva no kuringaniza umubiri. Kubura amatwi bivuga ku mikorere mibi cyangwa imikorere mibi y'amajwi, amajwi y'ibyumviro, n'ibigo by'amatwi ku nzego zose mu buryo bwo kumva, bigatera ububabare butandukanye mu kutumva.Dukurikije imibare ifatika, mu Bushinwa hari abantu bagera kuri miliyoni 27.8 bafite ubumuga bwo kutumva no kuvuga, muri bo hakaba harimo abana bavutse ari bo benshi mu barwayi, kandi nibura abana bavutse 20.000 barwaye ubumuga bwo kutumva buri mwaka.
Ubwana ni igihe cy'ingenzi cyane mu iterambere ry'abana ryo kumva no kuvuga. Iyo bigoye kwakira amajwi menshi muri iki gihe, bizatuma badakura neza mu mikurire yabo kandi bikaba bibi mu mikurire yabo myiza.
1. Akamaro ko gusuzuma imiterere y'uturemangingo ku bafite ubumuga bwo kutumva
Muri iki gihe, kubura amatwi ni ikibazo gikunze kugaragara mu bana bavukana, kikaba kiri ku mwanya wa mbere mu bumuga butanu (ubumuga bwo kutumva, ubumuga bwo kutabona, ubumuga bw'umubiri, ubumuga bwo mu mutwe, n'ubumuga bwo mu mutwe). Dukurikije imibare ituzuye, mu Bushinwa hari abana bagera kuri 2 kugeza kuri 3 bafite ubumuga bwo kutumva, kandi umubare w'abana bavutse ugabanuka ni 2 kugeza kuri 3%, ibi bikaba biri hejuru cyane ugereranyije n'izindi ndwara mu bana bavutse. Hafi 60% by'ubumuga bwo kutumva buterwa n'uturemangingo tw'ubumuga bwo kutumva, kandi impinduka mu turemangingo tw'ubumuga bwo kutumva ziboneka kuri 70-80% by'abarwayi bavutse ku buzima bwo kutumva.
Kubwibyo, gupima imiterere y’uturemangingo ku bijyanye n’ubumuga bwo kutumva biri muri gahunda zo gupima ababyeyi batwite. Gukumira ubumuga bwo kutumva bw’ibanze bishobora gukorwa binyuze mu gupima imiterere y’uturemangingo tw’uturemangingo ku bagore batwite. Kubera ko igipimo kinini (6%) cy’impinduka zisanzwe mu turemangingo tw’uturemangingo mu Bushinwa, abashakanye bakiri bato bagomba gupima imiterere y’uturemangingo mu gihe cyo gushyingiranwa cyangwa mbere yo kubyara kugira ngo hamenyekane abantu bafite ubumuga bwo kutumva baterwa n’imiti hakiri kare ndetse n’ababa bafite imiterere y’uturemangingo tw’uturemangingo. Abashakanye bafite imiterere y’uturemangingo tw’uturemangingo bashobora gukumira ubumuga bwo kutumva binyuze mu gukurikirana ubuyobozi no gutabara.
2. Gupima imiterere y'uturemangingo (genetic surgery) ni iki?
Gupima imiterere y’uturemangingo ku bumuga ni ikizamini cya ADN y’umuntu kugira ngo hamenyekane niba hari gene iranga ubumuga bwo kutumva. Niba hari abanyamuryango bafite imiterere y’uturemangingo mu muryango, ingamba zimwe na zimwe zishobora gufatwa kugira ngo hakumirwe ivuka ry’abana batumva cyangwa gukumira ko ubumuga bwo kutumva bushobora kugaragara mu bana bavutse hakurikijwe ubwoko butandukanye bw’uturemangingo tw’ubumuga bwo kutumva.
3. Abaturage basabwa gupima imiterere y'uturemangingo tw'abafite ubumuga bwo kutumva
-Abashakanye mbere yo gutwita no gutwita bakiri bato
-Abana bavutse
-Abarwayi batumva n'abo mu miryango yabo, abarwayi babazwe implante ya cochlear
-Abakoresha imiti ihumanya ikirere (cyane cyane aminoglycosides) n'abafite amateka yo kutumva guterwa n'imiti mu muryango wabo
4. Ibisubizo
Gupima indwara ya Macro & Micro-Test byakozwe na Macro & Micro-Test. Ugereranyije no gusesengura bisanzwe, gusesengura indwara ya exome yose bigabanya cyane ikiguzi mu gihe bihita bibona amakuru y’uturemangingo tw’uturere twose tw’uturemangingo. Ugereranyije no gusesengura genome yose, bishobora kugabanya igihe no kugabanya umubare w’amakuru akoreshwa mu gusesengura. Ubu buryo burahendutse kandi bukoreshwa cyane muri iki gihe mu kugaragaza impamvu z’indwara za genome.
Ibyiza
-Gusuzuma mu buryo bwuzuye: Ikizamini kimwe gisuzuma icyarimwe jeni za kirimbuzi z’abantu zirenga 20.000 na genome za mitochondrial, zirimo indwara zirenga 6.000 muri database ya OMIM, harimo SNV, CNV, UPD, impinduka zihindagurika, jeni zihuza, impinduka za genome za mitochondrial, HLA type n'izindi.
-Uburyo bworoshye: ibisubizo ni byiza kandi byizewe, kandi aho basanze hari ibipimo birenga 99.7%
-Byoroshye: gushakisha no gusesengura byikora, kubona raporo mu minsi 25
Igihe cyo kohereza ubutumwa: Werurwe-03-2023