Ese, ikibazo cy'umwana wanjye kiri he? Menya ibyerekeye indwara ya Walker-Warburg

Nk'umubyeyi, ukwiye kuba ubabaye kandi ufite ubwoba bungana iki iyo umwana wawe avutse afite isura idasanzwe, adafite ubuzima, cyangwa afite ubumuga, cyangwa abaganga bakavuga ko hari ikibazo mu mikurire y'amaso cyangwa ubwonko? Hari igihe impamvu y'ibi ishobora kuba indwara idakunze kugaragara, ariko ikomeye cyane, iboneka mu gihe cyo kuvuka. Uyu munsi tugiye kuvuga kuri imwe muri izo ndwara, Walker-Warburg Syndrome.

Indwara ya Walker-Warburg ni iki?

Muri make, indwara ya Walker-Warburg Syndrome ni indwara iterwa n’uturemangingo (genetic syndrome) igira ingaruka ku mitsi yo mu mubiri w’umwana wawe, cyane cyane ubwonko n’amaso. Iri mu itsinda ry’indwara zitwa congenital muscular dystrophies, zitangira umwana akivuka cyangwa akiri umwana muto, zigatangira gucika intege buhoro buhoro uko igihe kigenda gihita. Mu by’ukuri, iyi ndwara itera ibimenyetso bishobora gushyira ubuzima bw’abana mu kaga, kandi ikibabaje ni uko igabanya igihe cyo kubaho kwabo. Ibi bishobora kugutera ubwoba, ariko ni ngombwa kumenya icyo ari cyo.

Dystroglycanopathy ni iki? Hari isano iri hagati yayo?

Ushobora kuba warumvise indwara ya Walker-Warburg yitwa Dystroglycanopathy . Ntugire ikibazo, ndagusobanurira.

Indwara ya Walker-Warburg ni ubwoko bwa dystrophy y'imitsi ivukanwa. Dystrophy y'imitsi ni itsinda ry'indwara zigira ingaruka ku mitsi y'umubiri w'umwana. Ubwoko butandukanye bw'iyi dystrophy y'imitsi bushyirwa mu byiciro bya dystroglycanopathies. Ni ukuvuga, dystrophy y'imitsi iterwa n'ubusembwa mu turemangingo dukora poroteyine dystroglycan ni ryo zina ryitwa. Indwara ya Walker-Warburg ifatwa nk'ubwoko bukomeye cyane, cyangwa bukomeye, bw'iyi dystroglycanopathies.

Iyi ndwara ikunze kugaragara gute? Ni nde wayirwara?

Indwara ya Walker-Warburg ni indwara idakunze kugaragara. Ku isi yose, bivugwa ko umwana umwe mu bana 60.500 bavutse arwara iyi ndwara. Kubera ko iterwa n'impinduka mu miterere y'uturemangingo, umuntu wese ashobora kuyirwara. Ibi bivuze ko ubwoko, idini, n'ibindi ntaho bihuriye n'ibyo.

Ese umwana wanjye ashobora kuragwa iyi ndwara?

Yego, umwana wawe ashobora kuragwa indwara ya Walker-Warburg.Uku ni ko bigenda: Iyo ababyeyi bombi ari abamugaye imwe muri gene zahinduwe zitera indwara ya Walker-Warburg, bivuze ko bombi bafite kopi imwe ya gene ifite inenge, umwana azarwara iyo ndwara gusa ari uko ababyeyi bombi bamuhaye iyo gene mu gihe cyo gusama. Iyi gahunda yo kuragwa yitwa autosomal recessive inheritance.

Tekereza, niba umwana wawe azunguye kopi imwe gusa y’iyi gene yahinduwe n’umubyeyi umwe, umwana ntazagaragaza ibimenyetso, ariko umwana azaba ari we uzana iyi ndwara. Ibi bivuze ko abana b’umwana mu gihe kizaza bashobora kugira ibyago byo kurwara iyi ndwara, niba undi mubyeyi na we ari we uyifite.

Ni gute indwara ya Walker-Warburg igira ingaruka ku mubiri w'umwana wanjye?

Iyi ndwara ikunze kugira ingaruka ku mitsi y'umubiri w'umwana wawe. Ushobora kubona impinduka mu mitsi y'umwana wawe akimara kuvuka. Umubiri w'umwana ushobora kuba utekanye cyane, nk'igipupe kidafite ubuzima , kuko imitsi ifite imitsi mike cyane. Uretse imitsi, iyi ndwara inagira ingaruka ku buryo ubwonko n'amaso by'umwana wawe bikura kandi bikora. Umwana wawe ashobora kugira ibibazo byo kutabona, gutinda mu mikurire, ndetse n'ibibazo byo mu mikurire y'ubwenge. Abaganga bagerageza kugenzura ibi bimenyetso binyuze mu kuvura no gukumira umwana kugira igihe cyo kubaho kigufi.

Ni ibihe bimenyetso by'indwara ya Walker-Warburg?

Indwara ya Walker-Warburg itera ibimenyetso bigira ingaruka ku mitsi y'umwana, ubwonko bwe n'amaso ye. Uburemere bw'ibi bimenyetso bushobora gutandukana. Akenshi bigaragara mu gihe cyo kuvuka cyangwa mu bwana. Ibimenyetso bimwe na bimwe bishobora gushyira ubuzima mu kaga.

Ibimenyetso bifitanye isano n'imitsi

Ibimenyetso bya syndrome ya Walker-Warburg bigira ingaruka ku mitsi ikoreshwa mu kwihuta mu mwana.

• Iyo umwana avutse, ashobora kugaragara nk'aho ari "igipupe kidafite ubuzima" bitewe n'uko imitsi ye idafite imbaraga nyinshi (hypotonia) . Ibi bituma umwana adashobora guterura umutwe, amaboko n'amaguru.
• Iyi ndwara ituma imitsi y'umwana icika intege buhoro buhoro , bivuze ko ibimenyetso birushaho kwiyongera uko igihe kigenda gihita.
• Kubera ko imitsi y'umwana idakora neza, kunywa amata bishobora kugorana mu bwana bwe . Ashobora kutabasha konka cyangwa kumira neza.

Ibimenyetso bifitanye isano n'ubwonko

Indwara ya Walker-Warburg igira ingaruka ku mikurire y'ubwonko bw'umwana wawe. Ibimenyetso bifitanye isano n'ubwonko bishobora kuba birimo:

• Ubwonko bworoshye (Lissencephaly) ni indwara aho ubwonko busa n'aho bufite utubyimba ku buso bwabwo, budafite imikunjo cyangwa imiyoboro isanzwe. Mu yandi magambo, ubuso bw'ubwonko busa n'aho buringaniye.
• Ubwinshi bw'amazi mu bwonko(Hydrocephalus - umutwe w'amazi) Ibi bishobora gutuma umutwe urushaho kwiyongera.
• Ihindagurika ry'imikurire y'ubwonko n'ubwonko cyangwa indwara yitwa cerebellar cyst (Dandy-Walker malformation) .
• Indwara zo mu mutwe , ni ukuvuga indwara zimeze nk'iz'igicuri.

Izi ndwara, zigira ingaruka ku bwonko bw'umwana wawe, zishobora gutera gutinda gukura no guhura n'ibibazo mu bushobozi bwe bwo mu mutwe .

Ibimenyetso bifitanye isano n'amaso

Indwara ya Walker-Warburg ishobora kugira ingaruka ku mikurire y'amaso y'umwana wawe ndetse igatera ibimenyetso nka:

• Amaso mato (Microphthalmia) cyangwa amanini (Buphthalmos) .
• Ubushyuhe bw'amaso, bivuze ko indorerwamo y'amaso yahindutse umweru (Cataracts) .
• Gutinda kohereza ubutumwa binyuze mu mitsi y'amaso yohereza ubutumwa buva mu maso bujya mu bwonko.
• Kutabona neza (Kutabona neza) .

Impamvu ni iyihe? Kuki ibi bibaho?

Indwara ya Walker-Warburg iterwa n'impinduka mu ngirabuzimafatizo . Hamaze kumenyekana imiterere y'uturemangingo irenga icumi na tubiri itera iyo ndwara, kandi hashobora kuba hari n'indi itaramenyekana. Zimwe mu mpinduka mu ngirabuzimafatizo zitera iyi ndwara ku bantu barenga kimwe cya kabiri cy'abantu bose bafite indwara ya Walker-Warburg ni izi:

• `POMT1`
• `POMT2`
• `CRPPA` (yahoze yitwa `ISPD`)
• `FKTN`
• `FKRP`
• `ININI1`
• `POMGNT1`
• `ISPD`
• `GTDC2`
• `DAG1`

Izi ngirabuzimafatizo zibangamira inzira yo kongeramo isukari muri poroteyine yitwa alpha-dystroglycan , inzira yitwa glycosylation . Iyo iyi nzira ya glycosylation itagenze neza, imitsi y'umwana ntishobora kugumana imiterere yayo mu mubiri. Izi poroteyine zigira ingaruka ku buryo uturemangingo tw'imitsi mu bwonko twimuka mu gihe cy'uruhinja, ari na byo bitera indwara y'ubwonko yitwa lissencephaly twavuze haruguru.

Muri make, imitsi y'umwana urwaye indwara ya Walker-Warburg ihora ikomera kandi irekura. Uko igihe kigenda gihita, iyi mitsi irangirika kandi igacika intege ku buryo idashobora kongera gukora.

Byongeye kandi, indwara ya Walker-Warburg ibangamira uburyo imitsi igenda mu bwonko bw'umwana. Ubusanzwe, imitsi ikwiye guhagarara iyo igeze aho ijya. Ariko, imitsi yangiritse nayo ijya mu mazi akikije ubwonko bw'umwana. Ibi bigira ingaruka zikomeye ku mikurire y'ubwonko.

Indwara ya Walker-Warburg ipimwa ite?

Muganga wawe ashobora gutangira gupima indwara ya Walker-Warburg Syndrome mu gihe cyo gutwita, kandi isuzuma ryemezwa nyuma yuko umwana avutse.

• Gupima umwana utwite hakoreshejwe ultrasound bishobora kugaragaza ibimenyetso, cyane cyane ibigira ingaruka ku bwonko bw'umwana.
• Nyuma yo kuvuka k'umwana, ibizamini byo gufata amashusho nka CT scan na MRI bishobora gutanga ishusho isobanutse y'ubwonko bw'umwana no gusuzuma uburwayi bwe.

Hariho ibizamini byinshi byemeza ko umuntu yanduye indwara ya Walker-Warburg:

• Gupima imitsi ni ikizamini cyo kureba niba imitsi y'umwana imeze neza. Ibi bisaba gufata agace gato k'imitsi ukagasuzuma.
• Isuzuma ry'amaraso kugira ngo harebwe urugero rwa Creatine Kinase (CK) mu maraso. CK ni enzyme irekurwa mu maraso iyo imitsi yangiritse. Urugero rwinshi rwa CK rugaragaza ko imitsi yangiritse.
• Isuzuma ry'amaso kugira ngo harebwe ibimenyetso bya Walker-Warburg Syndrome mu maso y'umwana.
• Ikizamini cy'amaraso mu buryo bw'uturemangingo kugira ngo hamenyekane gene yahindutse itera ibimenyetso.

Ni ubuhe buryo bwo kuvura ibi?

Ikibabaje ni uko nta muti uhari wa Walker-Warburg Syndrome. Kubwibyo, uburyo bwo kuvura bugamije cyane cyane kugabanya ibimenyetso. Uburyo bwo kuvura bushobora gutandukana kuri buri mwana wagaragayeho iyi ndwara, bitewe n'uko umwana arwaye. Uburyo bwo kuvura bushobora kuba burimo:

• Kubagwa kugira ngo haveho amazi arenze urugero mu bwonko (hydrocephalus).
• Gutanga imiti yo kwirinda indwara zo mu mutwe.
• Ubuvuzi bw'umubiri kugira ngo bwongere imbaraga z'imitsi.
• Niba ufite ikibazo cyo kurya, gushyiramo umuyoboro wo kugaburira bishobora kugufasha.

Intego yo kuvura indwara ya Walker-Warburg Syndrome ni ukwirinda ibimenyetso bishobora gushyira ubuzima bw'umwana mu kaga no kongera igihe cyo kubaho.

Ese hari uburyo bwo kwirinda indwara ya Walker-Warburg?

Indwara ya Walker-Warburg ni indwara iterwa n’uturemangingo, bityo nta buryo bwo kuyirinda. Niba uteganya gutwita kandi ukaba ushaka kumenya ibyago byo kubyara umwana ufite ikibazo cy’uturemangingo, ni byiza kuvugana na muganga wawe ku bijyanye no gupima uturemangingo cyangwa ubujyanama ku turemangingo .

Niba umwana wanjye afite iyi ndwara, ni iki nakwitega?

Indwara ya Walker-Warburg ni indwara ikomeza kwiyongera. Ibi bivuze ko ibimenyetso bishobora kuba byoroheje mu ntangiriro, ariko bikarushaho kwiyongera uko igihe kigenda gihita. Ibi bishobora kumvikana nk'ibibabaje cyane, ariko abana bafite iyi ndwara akenshi baba bafite igihe gito cyo kubaho , akenshi kugeza mu bwana bwabo. Muganga w'umwana wawe azatanga ubuvuzi bwo kwirinda ibimenyetso bishobora kumuviramo urupfu no kongera igihe cyo kubaho k'umwana wawe. Wibuke ko nta muti uhari w'iyi ndwara.

Mu gihe umwana wawe yasuzumwe, ni ngombwa kwiyitaho. Bishobora kugufasha wowe n'umuryango wawe kuganira n'umujyanama mu by'imiterere y'umubiri kugira ngo bagufashe gusobanukirwa no guhangana n'ibibazo by'isuzuma ry'umwana wawe n'uburyo bwo kumuvura. Inzobere mu by'ubuzima bwo mu mutwe ishobora kandi kugufasha kwitegura no guhangana n'igihombo gitunguranye kizanwa n'isuzuma ry'umwana wawe. Itsinda ry'abapfushije n'abaterankunga rishobora kuba isoko ikomeye y'ihumure ku miryango muri ibi bihe bigoye.

Ni ryari nkwiye kujyana umwana wanjye kwa muganga?

Niba umwana wawe agaragaje ibimenyetso bya Walker-Warburg Syndrome, cyane cyane kudashobora kurya , hamagara muganga w'umwana wawe ako kanya. Nanone, menyesha muganga wawe niba ibimenyetso by'umwana wawe bigarutse cyangwa bikarushaho kwiyongera , nubwo ubuvuzi bwaba bwaragenze neza kugira ngo bugabanye ibimenyetso.

Umwana wawe ashobora kugira ibyago byo kurwara ibisebe . Niba ubona umwana wawe atakaje ubwenge by'igihe gito, ahinda umushyitsi cyangwa agenda adakora neza, cyangwa asa n'uwataye umutwe, ufite ubwoba, cyangwa udatuje, jya kwa muganga byihutirwa vuba.

Ni ibihe bibazo ngomba kubaza muganga w'umwana wanjye?

Ushobora kuba ufite ibibazo byinshi muri iki gihe kigoye. Gerageza kubaza muganga w'umwana wawe ibi bibazo:

• Ese umwana wanjye akeneye kubagwa?
• Ingaruka mbi z'ubuvuzi ni izihe?
• Nakora iki iyo umwana wanjye agize isereri?
• Ni kangahe nkwiye kujyana umwana wanjye kwisuzumisha ubuzima bwe?

Kumenya ko umwana wawe ukiri mu nda afite ikibazo cy’uturemangingo gishobora kumubuza kubaho ubuzima bwuzuye bishobora kuba ikibazo giteye ishozi cyane. Hamwe n’iki kibazo kigoye, muganga wawe azaguha uburyo bwo kwirinda ibimenyetso bishobora kumuviramo gupfa no kongera igihe cyo kubaho cy’umwana wawe. Gusuzuma umwana wawe bishobora kugutera agahinda kenshi wowe n’umuryango wawe, bityo rero menya neza ko ubona ubufasha ukeneye. Abantu benshi basanga inama z’uturemangingo ari ingirakamaro mu kumenya byinshi ku buryo bwo kwita ku mwana wabo. Inzobere mu by’ubuzima bwo mu mutwe irashobora kugufasha gucunga imihangayiko, kwitegura no guhangana n’igihombo gitunguranye. Niba ukeneye ubufasha, vugana na muganga wawe kandi umufashe.

Incamake: Ubutumwa bwo kujyana mu rugo

• Indwara ya Walker-Warburg ni indwara idakunze kugaragara ariko ikomeye cyane.
• Ibi bigira ingaruka cyane cyane ku mitsi y'umwana, ubwonko bwe, n'amaso ye .
• Ibimenyetso birimo intege nke z'imitsi (floppy baby), ubumuga bw'ubwonko (lissencephaly, hydrocephalus), igicuri, n'ibibazo by'amaso .
• Ibi biterwa n'ubusembwa bw'uturemangingo twavutse ku babyeyi bombi .
• Nubwo nta muti uhari, hari uburyo bwo kugabanya ibimenyetso no kongera igihe cyo kubaho .
• Ni ingenzi cyane ko ababyeyi n'imiryango bakomeza kugira ubwenge bwiza kandi bagahabwa inkunga ikenewe muri iki gihe kigoye. Ubujyanama ku ngirabuzimafatizo n'ubufasha ku buzima bwo mu mutwe bizafasha muri ibi.

Ndizera ko aya makuru yagufashije gusobanukirwa neza iyi ndwara idasanzwe. Wibuke ko utari wenyine, kandi abaganga n'abajyanama biteguye kugufasha.

Indwara ya Walker -Warburg, indwara z'uturemangingo, intege nke z'imitsi, ubumuga bw'ubwonko, indwara z'amaso, indwara y'imitsi ivukanwa, ubuzima bw'umwana