Ese umwana wawe asa n'ugenda asaza vuba cyane? Reka twige kuri Cockayne Syndrome!

Hari igihe twumva dufite ubwoba bwinshi iyo tubonye impinduka zimwe na zimwe mu mikurire y'abana bacu, si byo se? Cyane cyane iyo umwana yitwaye mu buryo butandukanye n'ubw'abandi bana, cyangwa iyo tubonye impinduka ku mubiri. Uyu munsi tugiye kuvuga ku ndwara idasanzwe ariko ikomeye cyane tugomba kumenya. Iyo ni Cockayne Syndrome. Ushobora kugira impungenge iyo wumvise iri zina, ariko reka tubiganireho mu buryo bworoshye kandi busobanutse.

Mu by'ukuri indwara ya Cockayne Syndrome ni iki?

Muri make, Cockayne Syndrome ni indwara idakunze kugaragara, ivuka mu buryo bw’uturemangingo. Muri ibi, uturemangingo two mu mubiri w’umwana ntidukura neza, kandi tugaragaza ibimenyetso byo gusaza imburagihe (progeria) . Tekereza, nubwo akiri umwana muto, isura ye n’imikorere ye imwe n’imwe y’umubiri we bitangira gusa n’iby’umuntu ushaje.

Hamwe n'iyi ndwara, hari n'ibindi bimenyetso by'ingenzi byinshi bishobora kugaragara:

• Kumva urumuri: Mu by’ukuri, uruhu rushya vuba iyo rukubiswe n’izuba, kandi amaso na yo yumva atameze neza.
• Ubuswa: Uburebure n'ibiro by'umwana biri hasi cyane ugereranyije n'ibisanzwe.
• Indwara yo kwibagirwa ikomeza kwiyongera: Uko igihe kigenda gihita, ibintu nko kwibuka no kwiga bishobora kugabanuka buhoro buhoro.

Ese hari ubwoko butandukanye bwa Cockayne Syndrome?

Yego, hari ubwoko butatu bw'ingenzi bw'iyi ndwara, buri bumwe bufite ibimenyetso byabwo bitandukanye n'ubukana bwabwo.

1. Ubwoko bwa 1 (bwa kera): Ubu ni bwo bwoko bukunze kugaragara cyane. Ibimenyetso bitangira kugaragara umwana amaze kugira nk'umwaka umwe. Ibi bimenyetso bigenda byiyongera uko igihe kigenda gihita.

2. Ubwoko bwa 2 (bwavutse mu gihe cy'amavuko): Ubu ni bwo bwoko bukabije cyane. Ibimenyetso bigaragara mu gihe cyo kuvuka. Aba bana bakura buhoro buhoro.

3. Ubwoko bwa 3: Ibi ni gake cyane. Ibimenyetso ntabwo bikomeye cyane. Nanone, ibi bimenyetso bigaragara mu myaka yashize.

Iyi ndwara ikunze kugaragara gute?

Indwara ya Cockayne ni indwara ikunze kugaragara cyane. Bivugwa ko iyi ndwara igaragara ku bana babiri cyangwa batatu gusa muri miliyoni bavutse mu bihugu nka Amerika n'i Burayi. Abarwayi nk'abo bashobora no kuboneka rimwe na rimwe muri Sri Lanka.

Ni iki gitera indwara ya Cockayne?

Ibi biragoye gato, ariko ndabisobanura mu buryo bworoshye. Uturemangingo tw'umubiri wacu tugizwe n'ikintu cyitwa 'DNA'. Ni nk'igitabo kirimo amakuru yose umubiri wacu ukeneye kugira ngo ukore. Iyi 'DNA' ishobora kwangirika kubera impamvu zitandukanye. Urugero:

• Imirasire
• Ibinyabutabire by'uburozi
• Umucyo w'imirasire y'izuba
• Molekile zidahamye zibaho mu mubiri wacu (radicals zidafite ishingiro)

Ubusanzwe, mu mubiri w'umuntu muzima, iyo iyi "DNA" yangiritse, haba hari uburyo bwihariye bwo kuyisana. Nk'uko iyo ikintu kiri mu nzu cyangiritse, kirasana.

Ariko, ku bana barwaye Cockayne Syndrome, iyi nzira yo gusana ADN (`DNA repair disorder`) ntabwo ikora neza. Impamvu y'ibi ni impinduka mu turemangingo `ERCC6` cyangwa `ERCC8`. Izi gene zifasha mu gusana ADN. Rero, iyo izi gene zidakora neza, kwangirika kwa ADN kuriyongeraho kudasana. Hanyuma uturemangingo ntidushobora gukora akazi katwo neza. Iyo ni yo mpamvu nyamukuru y'ibi bimenyetso byose.

Ni ibihe bimenyetso bya Cockayne Syndrome?

Iyi ndwara ishobora kugira ingaruka ku bice bitandukanye by'umubiri. Reka turebe ibyo ari byo.

Ibimenyetso bifitanye isano n'amaso:

Amaso ni kimwe mu bice by’umubiri bibasirwa cyane n’iyi ndwara.

• Ibara ridasanzwe rya retina y'ijisho.
• Gupfuka kw'indorerwamo y'ijisho, nk'uko bimeze ku ibara ry'amaso.
• Amaso afite uruhu (strabismus).
• Kudashobora gufunga amaso burundu.
• Kureba kure.
• Amarira yagabanutse mu maso.
• Kugabanuka k'amajwi.
• Gucika intege gahoro gahoro kwa retina (Retina degeneration).
• Amaso mato ugereranyije n'ingano isanzwe (microphthalmia).
• Amaso yaguye (enophthalmos).

Ibiranga isura:

Hari ibintu bimwe na bimwe byihariye bishobora kugaragara mu miterere y'isura.

• Kubora kw'amenyo bikunze kubaho bitewe no kutagenda neza kw'amenyo.
• Earlobes iba nini kurusha uko bisanzwe kandi ihinduka mu miterere.
• Umutwe muto (microcephaly).
• Kugabanya izuru.
• Kugaragara k'umusaya wo hejuru n'uwo hasi (prognathism).

Ibibazo bifitanye isano n'imisemburo:

• Gutinda mu bugimbi.
• Ibibazo by'uburumbuke.
• Amasaro adatembera mu bahungu.

Ibiranga uburyo bwo kongerera imitsi n'iterambere:

Ibi bigira ingaruka zikomeye ku bikorwa bya buri munsi by'umwana.

• Kugorama kw'imitsi kudasanzwe (spasticity).
• Kugabanuka buhoro buhoro k'ubushobozi bw'ubwenge.
• Gutinda mu mikurire (urugero: guteba kugenda, kuvuga).
• Kugorwa no kuvuga (aphasia).
• Gutigita kw'ingingo (Gutitira kw'ingenzi).
• Ibibazo byo kugenda no guhuza ibikorwa (ataxia).
• Ingorane zo kwiga.
• Indwara y'igicuri `(Indwara zo mu mutwe)`.

Ibimenyetso bifitanye isano n'uruhu:

• Kugabanuka kw'ibyuya (anhidrosis).
• Uruhu rukomereka byoroshye kandi rugakomereka.
• Kumva urimo gukonja iyo ukoze ku ruhu.
• Ibara ry'ubururu ku ruhu (cyanosis) (cyane cyane mu ngingo).

Izindi ngaruka:

• Umuvuduko w'amaraso ukabije.
• Ibinure byinjira mu mutima (atherosclerosis).
• Kwaguka k'umwijima.
• Imvi itaragera.
• Uburebure n'uburemere biri munsi cyane y'urugero rusanzwe (dwarfism).
• Ubumuga bwo kutumva.
• Ingingo nini.
• Kugabanuka kw'imitsi.
• Kyphosis.
• Amaboko n'amaguru birebire bidasanzwe ugereranije n'umubiri mugufi.

Icy'ingenzi: Ntabwo ibi bimenyetso byose bizagaragara kuri buri mwana, kandi uburemere bw'ibimenyetso bushobora gutandukana bitewe n'umwana.

Indwara ya Cockayne ipimwa ite?

Umuganga asuzuma iyi ndwara areba imiterere y'umwana n'ibisubizo bye bwite by'ibizamini. Ibizamini by'ingenzi bikorwa ni ibi bikurikira:

• Gupima imiterere y'uturemangingo: Hafatwa amaraso y'umwana agapimwa kugira ngo harebwe niba hari impinduka mu turemangingo ERCC6 cyangwa ERCC8.
• Isuzuma ry'uruhu: Agace gato k'uruhu gafatwa kagapimwa muri laboratwari kugira ngo hamenyekane ubushobozi bw'umubiri bwo gusana ADN. Abantu barwaye Cockayne Syndrome bagira umuvuduko muto wo gusana ADN ugereranije n'uko bisanzwe.

Hari ikindi kintu cy'ingenzi mu gusuzuma iyi ndwara. Ni ukuvuga ko ari ngombwa kubonana n'umuganga w'inararibonye uzi neza iyi ndwara. Kubera ko hari izindi ndwara zifite ibimenyetso bisa (urugero: `Hutchinson-Gilford progeria syndrome`, `Laron syndrome`, `Seckel syndrome`). Rero, kugira ngo hamenyekane neza iyi ndwara, ni ngombwa kuba ushobora kuyitandukanya n'izindi ndwara.

Ni ubuhe buryo bwo kuvura indwara ya Cockayne Syndrome?

Ikibabaje ni uko nta muti uhari wa Cockayne Syndrome. Ariko, ibyo ntibivuze ko ntacyo twakora. Intego nyamukuru yo kuvura ni ukwirinda no kuvura ingorane ziterwa n'iyi ndwara. Ibi bisaba inkunga y'itsinda ry'abaganga rigizwe n'inzobere zitandukanye.

Reka turebe uburyo bumwe na bumwe bwo kuvura:

Ubuvuzi bw'amenyo:

• Gusuzumisha amenyo buri gihe ni ngombwa kugira ngo hirindwe kandi havurwe kwangirika kw'amenyo.

Kwita ku maso:

• Indwara zo mu kanwa zishobora gusaba kubagwa.
• Ku maso afatanye, udupfukamunwa tw'amaso dushobora gukoreshwa mu gukomeza imitsi y'amaso idakomeye.
• Indorerwamo zo kureba hafi.
• Indorerwamo z'izuba zo kurinda amaso yawe urumuri rwinshi.

Inkunga mu gutanga imirire:

• Hari abana bashobora kugira ikibazo cyo kumira ibiryo. Muri ibyo bihe, kugaburira bishobora kuba ngombwa ko babikora binyuze mu muyoboro unyuze mu mazuru ujya mu gifu (nasogastric tube) cyangwa umuyoboro unyuze mu gifu unyuze mu ruhu (percutaneous endoscopic gastrostomy - PEG).

Uburyo bwo kuvura indwara zo mu mutwe, ubuvuzi bw'umubiri, n'ubuvuzi bw'akazi:

• Ibikoresho bifasha umubiri kugumana imiterere karemano (urugero: corset).
• Ubuvuzi bw'umubiri n'ubuvuzi bw'akazi kugira ngo bikemure ibibazo nko kugorwa n'amaguru.
• Uburyo bwo kuvura indwara zo kuvuga kugira ngo bwongere ubushobozi bwo kuvuga no kumira.

Ubundi buryo bwo kuvura:

• Gahunda z'uburezi bwihariye ku gutinda kw'iterambere.
• Imiti cyangwa indyo yihariye yo kugenzura ibinure mu mutima.
• Ibikoresho by'ubufasha bwo kumva ku bafite ubumuga bwo kutumva.
• Imiti yo kugenzura imitsi igoramye (spasticity), gutitira, umuvuduko ukabije w'amaraso, n'igicuri.
• Kurinda izuba ni ingenzi cyane. Ibyo bivuze kugabanya ibyago byo kwibasirwa n'izuba, kwambara ingofero no kwambara imyenda y'amaboko maremare.

Ese indwara ya Cockayne Syndrome ishobora kwirindwa?

Kubera ko iyi ari indwara iterwa n’uturemangingo, nta kintu na kimwe twakora ngo tuyirinde. Iyo umwana avutse afite iyi ndwara, imugiraho ingaruka ubuzima bwe bwose.

Ariko, niba uteganya gushinga umuryango cyangwa utegereje undi mwana, kandi hari umuntu wo mu muryango wawe warwaye Cockayne Syndrome, ni ngombwa cyane kubona inama ku bijyanye n'imiterere y'umubiri no gupima imiterere y'umubiri. Ibi bizamini bishobora kukubwira niba wowe n'umukunzi wawe mufite ERCC6 cyangwa ERCC8 gene mutation. Niba ari uko bimeze, umujyanama mu by'imiterere y'umubiri ashobora kugusobanurira amahirwe yo kubyara umwana urwaye Cockayne Syndrome.

Ni iki giteganyijwe ku bana barwaye Cockayne Syndrome?

Indwara ya Cockayne ni indwara igira ingaruka ku mibereho y'umwana. Ahazaza h'umwana haterwa n'ubwoko bw'indwara.

• Ubwoko bwa 1: Impuzandengo y'ubuzima ni hagati y'imyaka 10 na 20.
• Ubwoko bwa 2: Aba bana akenshi ntibaba bakiriho nyuma y'ubwana.
• Ubwoko bwa 3: Benshi muri aba bana bashobora kubaho kugeza mu kigero cy'imyaka hagati.

Bimeze bite kubana na Cockayne Syndrome?

Ubuzima bwa buri munsi bw'umwana buterwa n'ubwoko bwa Cockayne Syndrome afite. Serivisi zo gufasha abana bafite ubumuga bwo mu mutwe n'imikurire zishobora kubafasha koroshya ubuzima bwabo. Serivisi zo mu rugo no mu baturage zirahari kugira ngo zifashe mu bikorwa bya buri munsi. Ushobora no kubona ibikorwa byihariye byo gusabana.

Hari abana bajya ku ishuri kugeza ubwo ubushobozi bwabo bwo mu mutwe bugabanuka. Gahunda z'uburezi ku giti cyabo (IEPs) n'abafasha mu kwigisha bibafasha kwiga hamwe n'abandi bana. Ariko, abana bafite ubwoko bukomeye bw'indwara bashobora kutabona inyungu nyinshi mu kujya ku ishuri. Ahubwo, ibikorwa byabo bya buri munsi bishobora kuba bishingiye ku buvuzi n'imiti ibafasha kugumana ibyiyumvo byiza.

Icy'ingenzi cyane: Abantu barwaye Cockayne Syndrome bashobora kugira ingaruka zidasanzwe ku miti imwe n'imwe.By’umwihariko, metronidazole, umuti uvura indwara zandura, ugomba kwirindwa. Uyu muti ushobora gutuma umwijima unanirwa ndetse ukaba wanatera urupfu ku bantu barwaye Cockayne Syndrome. Kubwibyo, mbere yo gutanga umuti uwo ari wo wose, menyesha muganga neza uko umwana ameze.

Amaherezo, ibintu byo kwibuka (Ubutumwa bwo kujyana mu rugo)

Indwara ya Cockayne Syndrome ni indwara idakunze kugaragara, iterwa n'impinduka mu turemangingo twa ERCC6 cyangwa ERCC8. Ishobora kugira ingaruka ku maso y'umwana, ku bushobozi bwe bwo gutekereza, ku ruhu, no ku miterere ye. Nubwo igihe cyo kubaho cy'aba bana ari gito ugereranyije n'ikigereranyo, uburyo butandukanye bwo kuvura no gutanga ubufasha bushobora gutuma barushaho kumererwa neza no kubaho neza.

Niba ukeka ko umwana wawe afite ibi bimenyetso, ni byiza kudatinya, ahubwo ujye ugisha inama umuganga wujuje ibisabwa vuba bishoboka. Gusuzuma neza no kuvurwa hakiri kare bishobora gutanga ihumure rikomeye ku mwana wawe. Wibuke ko utari wenyine, kandi hari abaganga n'abandi benshi bashobora kugufasha muri uru rugendo.

` Kokayine syndrome, indwara z’uturemangingo, gusana ADN, gusaza imburagihe, gutinda mu mikurire, ubushobozi bwo kubona urumuri, indwara zidasanzwe