Leukodystrophy Metachromatic

Metachromatic leukodystrophy ni indwara y'umuzuko iburaho cyane iterwa n'indwara zikomoka ku miryango (genetic) itera ko ibinure (lipids) byiyongera mu mitobe, cyane cyane mu bwonko, mu mugongo no mu mitsi yo ku ruhu. Iyi myiyongere iterwa no kubura enzyme ifasha gusenya lipids yitwa sulfatides. Ubwonko n'ubwonko buhura n'ikibazo cyo kubura ubushobozi buhoro buhoro kuko ibintu bishinzwe gupfunyika no kurinda uturemangingo tw'imitsi (myelin) byangirika.

Hari ubwoko butatu bwa metachromatic leukodystrophy, burimo ibyiciro bitandukanye by'imyaka: ubwoko bwa nyuma bwa nyuma, ubwoko bw'abakiri bato n'ubwoko bw'abakuze. Ibimenyetso n'ibimenyetso bishobora gutandukana. Ubwoko bw'abana bato ni bwo bugaragara cyane kandi butera imbere vuba kurusha izindi mbonezamubiri.

Nta muti urakizwa metachromatic leukodystrophy. Bitewe n'ubwoko n'imyaka y'ibimenyetso, kumenya hakiri kare no kuvura bishobora gufasha gucunga bimwe mu bimenyetso no gukumira iterambere ry'indwara.

Kwangirika k'agakoba k'imyelin gakingira imiyoboro y'imbere bituma imikorere y'ubwonko n'imiterere y'imbere ikomeza kuba mibi, birimo: Gutakaza ubushobozi bwo kumva ibintu, nko gukoraho, kubabara, ubushyuhe n'ijwi Gutakaza ubumenyi, gutekereza no kwibuka Gutakaza ubushobozi bwo kugenda, kwimuka, kuvuga no kunywa Imikaya ikakaye, imikorere mibi y'imikaya n'ubumuga Gutakaza imikorere y'umwijima n'amara Ibibazo by'umwijima Ubuhumyi Gutakaza kumva Imihango Ibibazo by'amarangamutima n'imyitwarire, birimo amarangamutima adakomeye no gukoresha ibiyobyabwenge Buri bwoko bwa metachromatic leukodystrophy burakaza mu myaka itandukanye kandi bushobora kugira ibimenyetso bya mbere bitandukanye n'umuvuduko wo gutera imbere: Ubwoko bwa nyuma bwa bana bato. Iyi ni yo mico y'amacakubiri ya metachromatic leukodystrophy, itangira hafi imyaka 2 cyangwa munsi yaho. Gutakaza ubushobozi bwo kuvuga no kugenda byihuse. Abana bafite iyi mico bakunze kutarenza ubwana. Ubwoko bw'abangavu. Iyi ni yo mico ya kabiri ikunze kugaragara kandi itangira mu bana bari hagati y'imyaka 3 na 16. Ibimenyetso bya mbere ni ibibazo by'imyitwarire n'ubwenge n'ingorane zikomeza kwiga. Gutakaza ubushobozi bwo kugenda bishobora kubaho. Nubwo ubwoko bw'abangavu budatera imbere vuba nk'ubwoko bw'abana bato, ubuzima buramba muri rusange buramba munsi y'imyaka 20 nyuma y'ibimenyetso bitangira. Ubwoko bw'abakuze. Iyi mico ni nke kandi isanzwe itangira nyuma y'imyaka 16. Ibimenyetso biragera buhoro kandi bishobora gutangira n'ibibazo by'imyitwarire n'ibibazo by'ubuzima bwo mu mutwe, gukoresha ibiyobyabwenge n'inzoga, n'ibibazo by'ishuri n'akazi. Ibimenyetso byo mu mutwe nko gutekereza nabi no kubona ibintu bitariho bishobora kubaho. Icyerekezo cy'iyi mico kihinduka, gifite ibihe by'ibimenyetso bishyize hamwe n'ibihe byo kugabanuka vuba mu mikorere. Abantu bakuru bashobora kubaho imyaka myinshi nyuma y'ibimenyetso bya mbere. Ganira na muganga wawe niba ubona ibimenyetso byavuzwe haruguru cyangwa niba ufite impungenge ku bimenyetso byawe cyangwa ibimenyetso.

Vugana na muganga wawe niba ubona ibimenyetso byose byavuzwe haruguru cyangwa niba ufite impungenge ku bimenyetso cyangwa ibimenyetso byawe bwite.

Metachromatic leukodystrophy ni indwara ikomoka ku miryango iterwa na gene idasanzwe (yahindutse). Iyi ndwara iragenda mu buryo bwa autosomal recessive. Gene idasanzwe ya recessive iherereye kuri imwe mu ntera zidafite igitsina (autosomes). Kugira ngo umuntu arware indwara ya autosomal recessive, ababyeyi bombi bagomba kuba abatwaye, ariko ntibagaragaza ibimenyetso by'iyi ndwara. Umwana urwaye aragira kopi ebyiri za gene idasanzwe - imwe iva kuri buri mubyeyi.

Intandaro ikunze kugaragara ya metachromatic leukodystrophy ni mutation muri gene ya ARSA. Iyi mutation itera ibura ry'enzyme isenya lipids zitwa sulfatides, zikubaka muri myelin.

Gake, metachromatic leukodystrophy iterwa no kubura undi muco w'imbere (activator protein) usenya sulfatides. Ibi biterwa na mutation muri gene ya PSAP.

Ikurikirana rya sulfatides ni uburozi, rirushaho kwangiza uturemangingo dukora myelin - bitwa kandi white matter - birinda imiyoboro y'imbere. Ibi biterwa no kwangiza imikorere y'uturemangingo tw'imbere mu bwonko, mu mugongo no mu mitsi y'imbere.

Muganga wawe azakora isuzuma ngororamubiri—harimo n'isuzuma ry'imikorere y'ubwonko—akanasuzumira ibimenyetso n'amateka y'uburwayi kugira ngo arebe niba hari ibimenyetso bya leukodystrophy ya metachromatic. Muganga wawe ashobora gutegeka ko hakorwa ibizamini kugira ngo hamenyekane iyi ndwara. Ibi bizamini binatuma bamenya ubukana bw'iyi ndwara. Ibipimo bya Laboratwari. Ibipimo by'amaraso bishakisha ubuke bw'enzyme itera leukodystrophy ya metachromatic. Ibipimo by'inkari bishobora gukorwa kugira ngo harebwe urwego rwa sulfatide. Ibipimo bya gene. Muganga wawe ashobora gukora ibizamini bya gene kugira ngo arebe impinduka mu gene ifitanye isano na leukodystrophy ya metachromatic. Ashobora kandi kugira inama yo gupima abagize umuryango, cyane cyane abagore batwite (isuzuma ryo mu gihe cyo gutwita), kugira ngo harebwe impinduka muri gene. Isuzuma ry'umuvuduko w'imitsi. Iri suzuma ripima impinduka z'amashanyarazi mu mitsi n'imikorere yayo mu mitsi n'imikaya binyuze mu gushyira umuriro muto mu byuma bishyirwa ku ruhu. Muganga wawe ashobora gukoresha iri suzuma kugira ngo arebe ko hari imikaya yangiritse (peripheral neuropathy), ikunze kugaragara mu bantu barwaye leukodystrophy ya metachromatic. Magnetic resonance imaging (MRI). Iri suzuma rikoresha amabuye y'imbere akomeye n'amahano ya radiyo kugira ngo hamenyekane amashusho y'ubwonko. Ibi bishobora kugaragaza imiterere y'imirongo (tigroid) y'umutwe w'ubwonko utari mwiza (leukodystrophy) mu bwonko. Ibipimo byo mu mutwe n'ibyo kwibuka. Muganga wawe ashobora gusuzuma ubushobozi bwo mu mutwe no kwibuka (cognitive) akanasuzumira imyitwarire. Ibi bipimo bishobora gufasha kumenya uko iyi ndwara igira ingaruka ku mikorere y'ubwonko. Ibibazo byo mu mutwe n'imyitwarire bishobora kuba ibimenyetso bya mbere mu bwoko bwa leukodystrophy ya metachromatic bwo mu bwana n'ubwo mu bukuru. Kwitabwaho muri Mayo Clinic Itsinda ryacu ryita ku barwayi ry'inzobere za Mayo Clinic rishobora kugufasha mu bibazo byawe by'ubuzima bifitanye isano na leukodystrophy ya metachromatic. Tangira hano

Indwara ya metachromatic leukodystrophy ntabwo irakirwa, ariko ubushakashatsi bw’ubuvuzi burimo kwereka ko hari icyizere cyo kuvura mu gihe kizaza. Ubu buryo bwo kuvura bugamije gukumira kwangirika kw’imiterere y’ubwonko, kugabanya umuvuduko w’iyi ndwara, gukumira ingaruka mbi no gutanga ubufasha. Kumenya hakiri kare no kuvura hakiri kare bishobora kunoza ibyavuye ku bantu bamwe bafite iyi ndwara.

Uko iyi ndwara igenda ikomeza, urwego rw’ubuvuzi bukenewe kugira ngo bujyane n’ibyo umuntu akeneye buri munsi rugenda rwiyongera. Itsinda ryanyu ry’abaganga bazakorana namwe kugira ngo bafashe gucunga ibimenyetso n’ibibazo, kandi bagerageze kunoza ubuzima bwanyu. Muganire na muganga wawe ku bijyanye no kwitabira ubushakashatsi bw’ubuvuzi.

Indwara ya metachromatic leukodystrophy ishobora gucungwa hakoreshejwe uburyo butandukanye bwo kuvura:

• Imiti. Imiti ishobora kugabanya ibimenyetso n’ibibazo, nko kutumva neza, gutakaza ubwenge, kugorana gusinzira, ibibazo by’igifu, indwara n’ububabare.
• Ubuvuzi bw’umubiri, bw’imirimo n’ubw’imvugo. Ubuvuzi bw’umubiri bwo guteza imbere uburyo bw’imitsi n’amagufa no kubungabunga uburyo bw’imitsi bishobora gufasha. Ubuvuzi bw’imirimo n’ubw’imvugo bishobora gufasha kubungabunga imikorere.
• Ubufasha mu mirire. Gukorana n’inzobere mu mirire (umuhanga mu mirire) bishobora gufasha gutanga imirire ikwiye. Amaherezo, bishobora kugorana kurya ibiryo cyangwa ibinyobwa. Ibi bishobora gusaba ibikoresho byo gufasha kurya uko iyi ndwara igenda ikomeza.
• Ubundi buryo bwo kuvura. Ubundi buryo bwo kuvura bushobora kuba bukenewe uko iyi ndwara igenda ikomeza. Urugero harimo igare, inkunga cyangwa ibindi bikoresho bifasha; imashini yo gufasha guhumeka; uburyo bwo gukumira cyangwa guhangana n’ingaruka mbi; no kwitabwaho igihe kirekire cyangwa kujya mu bitaro.

Kwita ku ndwara ya metachromatic leukodystrophy bishobora kuba bigoye kandi bikagenda bihinduka uko igihe gihita. Gusura inzobere mu buvuzi buhoraho hamwe n’itsinda ry’inzobere mu buvuzi zifite ubunararibonye mu gucunga iyi ndwara bishobora gufasha gukumira ingaruka zimwe na zimwe no guhuza n’ubufasha bukwiye mu rugo, ku ishuri cyangwa ku kazi.

Uburyo bwo kuvura indwara ya metachromatic leukodystrophy burimo kwiga harimo:

• Ubuvuzi bw’imiterere y’indwara n’ubundi buryo bwo kuvura uturemangingo butanga imisemburo myiza kugira ngo isimbuze iyanduye
• Ubuvuzi bwo gusubiza imisemburo cyangwa kuyongerera kugira ngo hagabanywe ubwiyongere bw’ibintu bimeze nk’amavuta
• Ubuvuzi bwo kugabanya ibintu byongera amavuta, bigabanya umusaruro w’ibintu bimeze nk’amavuta

Kwita ku mwana cyangwa umuryango ufite indwara y’igihe kirekire kandi ikomeza gukomera nk’indwara ya metachromatic leukodystrophy bishobora gutera umunaniro no guhera. Urwego rw’ubuvuzi bw’umubiri buri munsi rugenda rwiyongera uko iyi ndwara igenda ikomeza. Ushobora kutamenya icyo witeze, kandi ushobora guhangayika kubijyanye n’ubushobozi bwawe bwo gutanga ubufasha bukenewe.

Tegura ibi bintu:

• Menya iyi ndwara. Menya byinshi bishoboka kuri metachromatic leukodystrophy. Hanyuma ushobora gufata ibyemezo byiza kandi uba umuvugizi wawe cyangwa umwana wawe.
• Shaka itsinda ry’inzobere zizwi. Uzaba ukeneye gufata ibyemezo by’ingenzi bijyanye no kuvura. Ibitaro bifite amatsinda y’inzobere bishobora kukugezaho amakuru yerekeye iyi ndwara, guhuza ubuvuzi bwawe hagati y’inzobere, kugufasha gusuzuma amahitamo no gutanga ubuvuzi.
• Shaka andi miryango. Kuganira n’abantu bahanganye n’ibibazo nk’ibyo bishobora kukugezaho amakuru n’ubufasha bwo mu mutwe. Baza muganga wawe ku matsinda y’ubufasha muri komini yawe. Niba itsinda ritakubereye, wenda muganga wawe ashobora kukugeza ku muryango wahuye n’iyi ndwara. Cyangwa ushobora kubona ubufasha bw’itsinda cyangwa ubwite kuri interineti.
• Tegura ubufasha bw’abita ku barwayi. Saba cyangwa wemere ubufasha mu kwita ku mukunzi wawe igihe bikenewe. Uburyo bwo kubona ubufasha bundi bushobora kuba harimo gusaba amakuru yerekeye uburyo bwo kuruhuka, gusaba ubufasha ku muryango n’inshuti, no gufata umwanya wo gukora ibyo ukunda n’ibikorwa byawe.