Ese ufite indwara idakunze kugaragara ifata 'ibintu byera' byo mu bwonko bwawe? Reka tuvuge kuri Leukodystrophy!

Wigeze wumva ijambo 'Leukodystrophy'? Rishobora kumvikana nk'aho ridasanzwe kandi rigoye kurivuga, sibyo? Ariko iyi ni inkuru ivuga ku ndwara idakunze kugaragara ifata imitsi yacu, cyane cyane ubwonko n'umugongo, ariko ni ingenzi cyane ko twese tumenya. Hari igihe duhangayika cyane iyo umuntu wa hafi yacu, umwana muto, agize iyi ndwara. Reka tubiganireho uyu munsi, mu buryo ushobora kumva.

Iyi ndwara ya leukodystrophy ni iki?

Muri make, leukodystrophy ni itsinda ry'indwara zidasanzwe zo mu bwonko. Imitsi yo mu bwonko bwacu no mu ruti rw'umugongo (imeze nk'insinga z'amashanyarazi) izengurutswe n'igipfundikizo kirinda kandi gikingira cyitwa myelin . Iyi myelin ifasha ubutumwa bw'imitsi kugenda neza kandi vuba. Abaganga banayita uru ruhererekane rwa myelin ikintu cyera.

Tekereza nk'agakoresho ka pulasitiki gakikije insinga y'amashanyarazi. Iyo ako gakoresho kangiritse, amashanyarazi ntatemba neza, ndetse bishobora no gutera "ubugufi". Mu buryo nk'ubwo, iyo aka gakoresho karinda kitwa myelin kangiritse, cyangwa iyo kadakozwe neza, uturemangingo tw'imitsi yacu ntidushobora kuvugana neza. Ubutumwa ntibunyura neza. Ikibaho muri leukodystrophy ni uko iyi myelin ikomeza kwangirika. Ibi bituma habaho gutakaza imikorere mu mitsi. Itumanaho hagati y'ubwonko n'abandi mubiri rirangirika.

Iyi ndwara ikunze kugaragara gute?

Mu by’ukuri, indwara ya leukodystrophy si indwara ikunze kugaragara cyane. Ubwoko bwose bwa leukodystrophy ni gake cyane. Urugero, muri Leta Zunze Ubumwe za Amerika na Kanada, ubwoko bwose bwa leukodystrophy buhuriweho bufata hagati y’umwana umwe ku bana 6.000 n’umwana umwe ku bana 100.000 bavutse ari bazima. Mu bihugu bya Aziya, bivugwa ko iyi ndwara iri hasi cyane ku bana batatu ku bana 100.000 bavutse ari bazima.

Ni ibihe bimenyetso bya leukodystrophy?

Iki ni cyo kigoye cyane. Kubera ko ibimenyetso bya leukodystrophy bishobora gutandukana cyane. Ibimenyetso nabyo biratandukanye bitewe n'ubwoko bw'indwara. Ariko, mu bwoko bwinshi bwa leukodystrophy, habaho kugabanuka buhoro buhoro k'imikorere y'imitsi . Ibi bishobora gutera ibimenyetso bitandukanye. Si buri wese uzagira ibimenyetso byose.

Muri rusange, izi ndwara zishobora kugira ingaruka ku bintu nk'ibi:

• Kuringaniza mu gihe ugenda: Kunanirwa kugenda neza, kugwa kenshi.
• Imbaraga: Kumva amaguru n'amaboko byawe birimo gucika intege, bikugora guterura cyangwa gufata ibintu.
• Gusobanukirwa: Kugorwa no kwiga, kwibuka no kwibanda ku kintu.
• Kurya no kumira: Kugorwa no kumira ibiryo, kubyimba kenshi.
• Kumva: Kubura amatwi.
• Ingendo n'imikorere: Kudashobora kugenzura amaguru n'amaboko neza, kugorwa no gukora imirimo mu buryo bunoze.
• Imvugo: Kutabasha kuvuga neza, kudashobora kuvuga neza, cyangwa gutakaza ubushobozi bwo kuvuga buhoro buhoro.
• Kureba: Kudakora neza kw'amaso, rimwe na rimwe no guta ubwenge burundu.

Tekereza nawe, niba uri umwana muto, imikurire y'umwana wawe ishobora kuba itinda kurusha abandi bana. Bashobora kuba batinda kwiga ibintu bishya, gukina no kuvuga. Ibi byose bibaho kubera ko myelin yangiritse, kandi ubutumwa buva mu bwonko bujya ku mubiri ntibugende neza.

Ubwoko bwinshi bw'ingenzi bwa leukodystrophy

Abashakashatsi ubu bamaze kubona ubwoko burenga 50 bwa leukodystrophy. Kandi baracyavumbura ubwoko bushya. Buri bwoko bwa leukodystrophy buterwa n'impinduka mu miterere y'uturemangingo . Ni ukuvuga impinduka mu turemangingo mu mubiri wacu. Nanone, buri bwoko bufite ibimenyetso bitandukanye. Imyaka y'itangira ry'ibimenyetso nayo iratandukanye bitewe n'ubwoko.

Reka turebe ingero zimwe na zimwe. Kubera ko byatwara igihe kirekire cyane gusobanura ubwo bwoko bwose, turaza kuvuga kuri zimwe mu nkuru z'ingenzi.

• Adrenoleukodystrophy (ALD): Ibi bigira ingaruka ku ngingo y'umweru y'ubwonko n'umugongo, ndetse no ku misemburo ya adrenal, igenzura imisemburo yacu. Ibimenyetso bikunze gutangirira mu bwana cyangwa mu bwana. Ushobora kubona ibintu nko kugorwa no kwiga, impinduka mu kureba cyangwa kumva, kugorwa no kugenda, umunaniro, no kugabanya ibiro.

• Leukodystrophy ifata umubiri w’umuntu mukuru (ADLD): Ibi bikunze kugaragara ku bantu bari mu kigero cy’imyaka 40 cyangwa 50. Bitera ibibazo mu mbaraga, mu mikorere no mu bwenge. Bishobora kandi kugira ingaruka ku bintu nk’umuvuduko w’amaraso n’umuvuduko w’umutima .

• Indwara ya Alexander: Ibi bituma abana bagira ibibazo byo gukura nabi, ibibyimba, ndetse no kugenda bigorana. Akenshi yibasira abana bavutse cyangwa abana bato. Ariko, hari ubwoko bumwe na bumwe bw'indwara ya Alexander bushobora gutera ibimenyetso ku bantu bakuru.

• Indwara ya Kanavan:Muri iki gihe, gukura k'umwana na ko kuratinda, umubiri ucika intege, biragora kumira ibiryo, ihungabana ribaho, umwana ahora adatuje, kandi hashobora kubaho impinduka mu byo abona. Ibimenyetso bikunze kugaragara akiri umwana. Ariko, hari ubwoko bumwe na bumwe bw'indwara z'imbwa bugaragaza ibimenyetso nyuma.

• Indwara ya Krabbe: Nanone yitwa leukodystrophy ya globoid cell . Ibimenyetso bikunze gutangirira mu bwana. Birimo intege nke, kugorwa no konsa, kubura umutuzo, kudakura neza, indwara z'imitsi ( kubura ibinure no gucika intege mu maguru), hamwe n'indwara zo mu mutwe. Hari igihe ibimenyetso bishobora kugaragara mu myaka yashize.

• Leukodystrophy ya metachromatic: Ibi bishobora kubaho mu bana bato, ndetse no mu bantu bakuru. Bishobora gutera impinduka mu bushobozi bwo gutekereza, mu myitwarire, mu kureba cyangwa kumva, mu byihebe, mu mitsi yo mu bwonko, mu kwibagirwa (kwibagirwa burundu), no mu buhumyi.

Hari ubundi bwoko bwinshi, nka Cerebrotendinous xanthomatosis (CTX) , Childhood ataxia hamwe na hypomyelination y'imitsi yo hagati (CACH) (yitwa kandi indwara ya vanging white matter (VWM) ), Pelizaeus-Merzbacher disease (PMD) (yibasira cyane abahungu), na Refsum disease .

Kuki habaho leukodystrophy?

Impamvu nyamukuru ibitera ni impinduka mu miterere y’uturemangingo. Ni ukuvuga impinduka muri ADN mu mibiri yacu. Izi mpinduka ziba mu turemangingo twigisha ikorwa ry’uyu mupfundikizo w’uburinzi witwa myelin, cyangwa uburyo ukora neza. Hatabayeho uyu mupfundikizo w’uburinzi, uturemangingo tw’imitsi ntidushobora gukora neza.

Izi mpinduka mu ngirabuzimafatizo rimwe na rimwe zishobora kuragwa n'ababyeyi ku bana babo. Ni ukuvuga ko zishobora guhererekanywa mu bisekuruza bitandukanye. Ariko, rimwe na rimwe izi mpinduka zishobora no kuvuka mu buryo butunguranye, uko uturemangingo dukura kandi tukigabanyamo ibice.

Icy'ingenzi ni uko hari abantu bashobora kugira ihinduka ry'uturemangingo ritera leukodystrophy ariko ntibayikuremo. Tubita abatwara. Ariko, aba batwara iyi hinduka bashobora kuyitera abana babo. Niba uri umuntu utwara ihinduka ry'uturemangingo ritera leukodystrophy, ushobora gutekereza ku bujyanama mu by'uturemangingo . Umujyanama mu by'uturemangingo azareba amateka y'umuryango wawe maze agufashe kumenya ibyago byo kwanduza abana bawe iyi hinduka.

Ese hari ibintu bishobora gutera ingaruka kuri ibi?

Mu by’ukuri, nta bintu byihariye bishobora gukumira indwara ya leukodystrophy. Ibi biterwa nuko ari indwara iterwa n’uturemangingo. Ariko, hari amoko amwe yagaragaye ko ashobora kurwara ubwoko bumwe na bumwe bwa leukodystrophy. Ubwoko bwinshi bwa leukodystrophy bugira ingaruka ku bagabo n’abagore kimwe. Ariko, amoko amwe, nka Pelizaeus-Merzbacher disease (PMD), yibasira cyane abahungu.

Ni gute indwara ya leukodystrophy ipimwa?

Muganga wawe azabanza kukubaza ibimenyetso byawe, anakubaze amateka yawe bwite n'ay'ubuzima bw'umuryango wawe. Hanyuma azagukorera isuzuma ry'umubiri n'isuzuma ry'imitsi.

Ushobora kandi gukora ibindi bizamini bike:

• Ibizamini byo gupima abana bavutse: Mu bihugu bimwe na bimwe, ibi bizamini bikoreshwa mu kumenya ubwoko bumwe na bumwe bwa leukodystrophies.
• Ibipimo by'amaraso n'amacandwe ( ibizamini by'uturemangingo ): Ibi bishobora kumenya impinduka mu turemangingo muri ADN yawe.
• Ibizamini byo gufata amashusho: Urugero , scan ya MRI irashobora gukorwa kugira ngo harebwe imiterere y'ikintu cyera mu bwonko no mu ruti rw'umugongo.

Nubwo hari ibi bizamini byose, gusuzuma leukodystrophy rimwe na rimwe bishobora kugorana kuko ibimenyetso biratandukanye cyane. Hari igihe indwara nyinshi za leukodystrophy zitamenyekana.

Ni ubuhe buryo bwo kuvura indwara ya leukodystrophy?

Iki ni cyo kintu cy'ingenzi twese tugomba kumenya. Nta muti wa leukodystrophy uraboneka kugeza ubu. Ariko ibyo ntibivuze ko nta cyo twakora. Hari byinshi dushobora gukora kugira ngo tugenzure ibimenyetso, tworohereze ubuzima, kandi tubungabunge imwe mu mikorere y'imitsi.

Ubu buryo bwo kuvura bushobora kuba bukubiyemo:

• Imiti ivura indwara zo gucika intege, imitsi ifunganye, n'ibibazo byo kugenda.
• Ubuvuzi bw'imirire cyangwa gukoresha imiyoboro yo kugaburira abana ku bibazo byo kurya no kumira.
• Uburyo bwo kuvura imisemburo ku bibazo by’imikorere y’uturemangingo tw’inkende.
• Ubuvuzi bw'umubiri, ubuvuzi bw'akazi, n'ubuvuzi bwo kuvuga kugira ngo bongere ubumenyi nko kugenda, kuringaniza no kuvuga.

Uburyo bushya bwo kuvura imiterere y’uturemangingo ni uburyo bushya bwo kuvura ubwoko bumwe na bumwe bwa leukodystrophies. Bukubiyemo gushyira ibintu bya gene mu turemangingo kugira ngo bihindure uburyo bikora poroteyine zimwe na zimwe.

Gutera uturemangingo tw’umugongo cyangwa gutera umwongo w’amagufwa bishobora koroshya ibimenyetso by’ubwoko bumwe na bumwe bwa leukodystrophy. Ariko, ubu buryo bugira akamaro gusa mu gihe gito cyane cy’abantu. Iyo cerebrotendinous xanthomatosis (CTX) igaragaye hakiri kare, uburyo bwitwa chenodeoxycholic acid (CDCA) bushobora gukoreshwa mu kuyivura.

Byongeye kandi, hari igeragezwa ry’ubuvuzi rikomeje gukorwa kugira ngo haboneke uburyo bwo kuvura ubwoko bumwe na bumwe bwa leukodystrophy. Rero, niba wowe cyangwa umwana wawe mufite iyi ndwara, mushobora kuvugana na muganga wanyu kugira ngo barebe niba ubu buryo bushya bwo kuvura bukubereye.

Icyizere cy'ubuzima umuntu afite kanseri y'amaraso mu maraso ni ikihe?

Iyi ni ingingo igoye kandi ikomeye kuganiraho. Leukodystrophy ni indwara ikomeza kwiyongera itera ibibazo mu mitsi uko igihe kigenda gihita. Abana benshi barwaye leukodystrophy bapfa bataragera ku myaka y'ubukure. Ariko, hari abantu babaho kugeza bakuze. Nubwo izi ndwara akenshi ziba zica, uburyo bushya bwo kuvura n'igeragezwa ry'ubuvuzi byazanye icyizere ku bafite iyo ndwara.

Ibintu by'ingenzi tugomba kwibuka (Ubutumwa bwo kujyana mu rugo)

Leukodystrophy ni indwara idakunze kugaragara, ikwirakwira mu mitsi. Yangiza igipfundikizo cy’uburinzi cyitwa myelin gikikije imitsi yo mu bwonko no mu ruti rw’umugongo. Iyo myelin idafite, imitsi ntishobora kuvugana neza, bigatera ibimenyetso bitandukanye.

Nubwo nta muti uhari kugeza ubu, hari imiti n'uburyo butandukanye bwo kuvura kugira ngo hagenzurwe ibimenyetso no koroshya ubuzima. Ubushakashatsi bushya bwagaragaje umusaruro mwiza mu kuvura izi ndwara. Wibuke ko itsinda ry'abaganga b'umwana wawe rihora riri kumwe nawe, ritanga ubuvuzi bwiza ku mwana wawe. Ni ngombwa cyane kudatinya, gushaka inama z'abaganga hakiri kare no kumenya amakuru nyayo.

Leukodystrophy , myelin, ibintu byera, indwara z'imitsi, impinduka mu ngirabuzimafatizo, indwara z'abana, uturemangingo tw'imitsi