Nk'umubyeyi, ushobora kuba uhangayikishijwe n'ubuzima bw'umwana wawe. Hari igihe biba ibisanzwe kumva ufite ubwoba iyo umenye indwara zidasanzwe tutarigeze twumva. Uyu munsi turimo kuvuga ku ndwara idasanzwe abantu benshi batari barigeze bumva, ariko ni ngombwa kumenya. Izina ryayo ni Homocystinuria.
Mu magambo make, Homocystinuria (HCY) ni iki?
Tekereza nawe, tuzi ko ibyo turya, cyane cyane inyama, amafi, amata n'amagi, birimo poroteyine . Iyi poroteyine nini igizwe n'uduce duto twitwa aside amine . Nk'ibintu byubaka umubiri. Mu mubiri w'umuntu muzima, izi aside amine zirashwanyagurika zikanagogorwa, maze zikaba imbaraga umubiri wacu ukeneye.
Ariko, ku muntu ufite Homocystinuria (HCY), umubiri ntushobora gusenya no gusya aside amine yitwa methionine neza. Ibi byitwa indwara ya metabolisme. Iyo ibi bibaye, iyi methionine n'indi miti yitwa homocysteine, ikomoka kuri yo, bitangira kwirundanya mu mubiri, cyane cyane mu maraso. Uku kwirundanya ni akaga. Iyo bitavuwe, bishobora guteza ibibazo bikomeye by'ubuzima.
Kuki ibi bibaho? Impamvu ni iyihe?
Enzyme yihariye mu mubiri wacu ifasha mu gikorwa cyo gusenya iyi aside amine yitwa methionine. Tekereza iyi enzyme nk'imikasi. Iyi mikasi ikata ikintu kinini cyitwa methionine mo uduce duto.
Ku muntu ufite homocystinuria, iyi enzyme (imikasi) ntikorwa mu mubiri, cyangwa iyo ikozwe, ntikora neza.
Igikuru ni uko iyi ari indwara umuntu avukana . Ibyo bivuze ko ihererekanywa mu bisekuruza. Hariho uturemangingo tubiri tugutegeka gukora iyi enzyme. Imwe igomba kuragwa na nyoko n'indi ikava kuri so. Kugira ngo homocystinuria itere imbere, hagomba kuba hari inenge muri uturemangingo twombi twarazwe na nyoko na so.
Ni ibihe bimenyetso dushobora kubona?
Igitangaje ni uko iyo urebye umwana wavutse afite Homocystinuria, nta tandukaniro rigaragara. Ni abana basanzwe rwose. Ibimenyetso bitangira kugaragara mu myaka mike ya mbere y'ubuzima. Abana bose si ko babibona kimwe. Hari abana bashobora kugira ibimenyetso byinshi muri ibyo, abandi ntibabigaragaze.
Witondere ibiranga imbonerahamwe iri hepfo.
| Icyiciro cy'ibiranga | Ibimenyetso bikunze kugaragara |
|---|---|
| Imiterere y'umubiri | Afite uruhu n'umusatsi byerurutse cyane, afite imiterere idasanzwe mu gituza, afite umubiri muremure kandi woroshye kurusha abandi bana, kandi afite intoki ndende kandi zoroshye. |
| Iterambere | Kongera ibiro buhoro buhoro no gukura. |
| Kureba neza | Gutakaza ubushobozi bwo kureba neza (kurebera hafi), gucika kw'ijisho ry'amaso, ndetse no guhuma. |
| Ibindi bimenyetso bikomeye | Gucika intege kw'amagufwa (kuba ntege nke), kuvura amaraso (bikongera ibyago byo kurwara indwara zo mu bwonko n'umutima), hamwe n'indwara zo mu bwonko. |
| Iterambere n'imyitwarire | Gutinda kwandura, kugenda no kuvuga. Ubumuga bwo kwiga n'ibibazo byo mu mutwe. Ibibazo byo kugenzura imyitwarire n'amarangamutima. |
Abaganga babibona bate ibi?
Mu bihugu byinshi, gupima umwana ukiri muto bikoreshwa mu kumenya indwara nka Homocystinuria hakiri kare. Iki gipimo cy'amaraso kigaragaza niba umwana afite ibyago byo kurwara iyi ndwara.
Niba ibisubizo bitameze neza, muganga azagusaba ko hakorwa ibindi bipimo byihariye by’amaraso n’inkari kugira ngo yemeze ko indwara ari yo. Muri Sri Lanka, ibi bipimo bikunze gutangwa nyuma yuko ibimenyetso bigaragaye, hanyuma hakavuka amakenga.
Ivurwa ite? Ese ni ikintu cyo gutinya?
Oya, ntugire ikibazo. Icy'ingenzi ni ugutangira kuvurwa indwara ikimara kumenyekana.Umuganga w’imikorere y’umubiri azagufasha muri ibi. Gahunda yo kuvura ishobora gutandukana bitewe n’umwana.
Hari uburyo bubiri bw'ingenzi bwo kuvura:
1. Uburyo bwo kuvura Vitamine B6
Hari ubwoko budakabije bwa homocystinuria. Bushobora kugenzurwa no gutanga inyongeramusaruro nyinshi za vitamine B6. Muganga wawe azapima umwana wawe kugira ngo arebe niba ubu buryo bumubereye. Iyi vitamine ishobora gufasha gukumira ibibazo by'imyitwarire n'iby'ubwenge ku bana bamwe, kandi ishobora no kugabanya ibyago byo kugira ibibazo by'amaso, amagufwa, n'amaraso.
2. Indyo yihariye (Indyo ifite Methionine nkeya)
Iyo umwana adakiriye imiti ya Vitamine B6, intambwe ikurikiraho ni ugutangira indyo irimo methionine nke . Iyi ndyo akenshi ni iy'ubuzima bwe bwose. Ni ngombwa gushaka ubufasha bw'inzobere mu mirire inzobere mu ndwara za aside amine.
| Ibintu ugomba kuzirikana mu gihe ukurikiza indyo irimo methionine nkeya | |
|---|---|
| Ibyokurya birimo poroteyine nyinshi bigomba kwirindwa burundu |
|
| Ibindi biribwa byo kugabanya cyangwa guhagarika |
|
| Ibintu ushobora kurya witonze | Imbuto n'imboga birimo methionine nkeya cyane, bityo bishobora kuribwa ku rugero rugenzuwe , nk'uko muganga wawe akaba n'inzobere mu mirire yabigusabye. |
Byongeye kandi, muganga asaba umwana guhabwa formula yihariye aho guhabwa amata. Iyi formula irimo izindi ntungamubiri zose zikenewe kugira ngo umwana akure, hamwe na methionine ikurwaho.
Nanone, muganga ashobora kuguha izindi nyongeramusaruro nyinshi.
- Betaine na aside folike: Ibi bigabanya urugero rwa homocysteine itera ingaruka mbi yirundanya mu maraso.
- Vitamine B12 na L-cysteine: Ibi bishobora kubura bitewe n'indwara. B12 itangwa nk'urushinge naho L-cysteine nk'inyongera.
Kugira ngo umenye neza ko ubuvuzi bukora neza, amaraso n'inkari by'umwana wawe bizakenera gupimwa buri gihe. Uko umwana wawe agenda akura, ushobora gukenera guhindura gato gahunda yo kumuvura.
None se, ni iki twagombye gutekerezaho ku byerekeye ahazaza?
Inkuru nziza ni uko iyo ubuvuzi butangiye hakiri kare kandi bugakomeza neza, umwana ashobora gukura neza kandi agakura neza . Ubuvuzi bukwiye bushobora kandi kugabanya cyane ibyago byo kurwara indwara zo mu bwonko, indwara z'umutima, no kubyimba kw'amaraso.
Hari igihe ibibazo byo kutabona bishobora kubaho nubwo byavurwa. Ariko bishobora gukemurwa no kubagwa cyangwa ubundi buryo. Icy'ingenzi ni uguhora uganira na muganga wawe kandi ugakurikiza amabwiriza ye neza.
Ubutumwa bwo kujyana mu rugo
- Homocystinuria ni indwara idakunze kugaragara mu buryo bw'uturemangingo aho umubiri udashobora gusya methionine, aside amine iboneka mu biribwa turya.
- Iyi ni indwara iterwa n'uturemangingo dufite inenge dukomoka kuri nyina na se.
- Ibimenyetso (kuba mugufi, ibibazo byo kutabona neza, gutinda gukura) bigaragara nyuma gato y'uko umwana avutse.
- Iyi ndwara ishobora gukemurwa neza n'indyo yihariye irimo vitamine B6 cyangwa methionine nkeya.
- Gusuzuma indwara hakiri kare no kuyivura ubuzima bwose bishobora gufasha umwana wawe kubaho ubuzima bwiza kandi busanzwe. Niba ufite impungenge kuri ibi, ganira na muganga wawe nta guhishanya.
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