Albinism

Ijambo albinism risanzwe risobanura albinism yo mu jisho no mu ruhu (oculocutaneous albinism (OCA)). OCA ni indwara ziterwa n’imiterere y’umuntu, aho umubiri utari ukora cyangwa ukora make cyane ikintu cyitwa melanin. Ubwoko n’umubare wa melanin biri mu mubiri wawe nibyo bigena ibara ry’uruhu rwawe, umusatsi n’amaso. Melanin inafite uruhare mu iterambere no gukora kw’amaso, bityo abantu bafite albinism bagira ibibazo by’ububone.

Ibimenyetso bya albinism bikunze kugaragara mu ibara ry’uruhu, umusatsi n’amaso by’umuntu, ariko rimwe na rimwe, itandukaniro riba rito. Abantu bafite albinism kandi bakunda kwibasirwa n’izuba, bityo bafite ibyago byinshi byo kurwara kanseri y’uruhu.

Nubwo nta muti wa albinism uhari, abantu bafite iyo ndwara bashobora gufata ingamba zo kurengera uruhu rwabo n’amaso yabo no kubona ubuvuzi bw’amaso n’uruhu bukwiye.

Ibimenyetso bya albinism bikubiyemo ibara ry'uruhu, umusatsi n'amaso, ndetse n'ubuhumyi. Ubwoko bworoshye bwa albinism kubona butera umusatsi umweru n'uruhu rwera cyane ugereranije n'abavandimwe cyangwa abandi bafite isano ya hafi. Ariko ibara ry'uruhu, ryitwa kandi pigmentation, n'ibara ry'umusatsi bishobora kugenda kuva ku mweru kugera ku ibara ry'umukara. Abantu bakomoka muri Afurika bafite albinism bashobora kugira uruhu rufite ibara ry'umukara cyangwa umukara utukura kandi bagira ibishishwa. Kuri bamwe, ibara ry'uruhu rishobora kuba hafi kimwe n'iry'ababyeyi cyangwa abavandimwe badafite albinism. Iyo umuntu yashyizwe ku zuba, bamwe bashobora kugira: Ibishishwa. Uduheri, dufite ibara cyangwa tudafite, rimwe na rimwe bikaba byera. Ibishishwa binini, bita solar lentigines (len-TIJ-ih-neez). Kwikomeretsa n'ubudahumura bwo gutukura. Kuri bamwe bafite albinism, ibara ry'uruhu ntirizigera rihinduka. Kuri abandi, gukora kwa melanin bishobora gutangira cyangwa kwiyongera mu bwana no mu myaka y'ubwangavu, bigatuma habaho impinduka nke mu ibara. Ibara ry'umusatsi rishobora kugenda kuva ku mweru cyane kugera ku ibara ry'umukara. Abantu bakomoka muri Afurika cyangwa Aziya bafite albinism bashobora kugira ibara ry'umusatsi ryera, ritukura cyangwa ry'umukara. Ibara ry'umusatsi rishobora kandi guhinduka rikaba umukara mu myaka y'ubukure. Cyangwa umusatsi ushobora guhinduka ibara bitewe no guhura n'imyunyu iri mu mazi no mu kirere, bigatuma umusatsi usa n'uwimye uko umuntu akura. Imisozi y'amaso n'imizigo ikunze kuba yera. Ibara ry'amaso rishobora kugenda kuva ku ibara ry'ubururu bwera cyane kugera ku ibara ry'umukara kandi rishobora guhinduka uko umuntu akura. Muri albinism, ibice by'amaso bifite ibara, bita irises, akenshi biba bidahumura bihagije. Ibi bituma umucyo uca mu irises bigatuma amaso aba afite ubukana cyane ku mucyo mwinshi. Kubera ibyo, amaso yera cyane ashobora kugaragara nk'ayatukura mu mico imwe. Ibibazo by'ubuhumyi ni ikimenyetso nyamukuru cy'ubwoko bwose bwa albinism. Ibibazo by'amaso bishobora kuba birimo: Kujugunya amaso vuba, imbere n'inyuma, bidakozweho, bita nystagmus. Ubujyakuzimu butasanzwe bw'umutwe cyangwa imyanya y'umutwe, nko kweza umutwe kugira ngo ugabanye imyanya y'amaso kandi urebe neza. Amaso adashobora kureba mu cyerekezo kimwe icyarimwe cyangwa asa n'ayarengeje, iki kibazo bita strabismus. Ibibazo byo kubona ibintu biri hafi cyangwa kure, bita kureba kure cyangwa kureba hafi. Ubukana bukabije ku mucyo, bita photophobia. Itandukaniro mu mpande y'imbere y'ijisho cyangwa lentili iri mu jisho, bita astigmatism, itera ubuhumyi. Itandukaniro mu iterambere ry'urukiramende rwo hanze rw'inyuma y'ijisho, bita retina. Iyi tandukaniro itera ubuhumyi buke. Ibisigo by'imiterere byavuye muri retina bigana ubwonko bidakurikiza inzira zisanzwe z'imiterere mu jisho. Ibi bita misrouting ya optic nerve. Ubuhumyi buke bw'ubujyakuzimu, bisobanura kutamenya kubona ibintu mu buryo butatu kandi utabasha kumenya aho ikintu kiri kure. Ubuhumyi bwemewe n'amategeko - ubuhumyi buri munsi ya 20/200 - cyangwa ubuhumyi bwuzuye. Igihe umwana wawe avutse, umuvuzi ashobora kubona ubuke bw'ibara mu musatsi cyangwa uruhu bikagira ingaruka ku misozi y'amaso n'imizigo. Umuvuzi arashobora gutegeka isuzuma ry'amaso kandi akakurikirana impinduka zose mu ibara ry'uruhu rw'umwana wawe no kubona. Niba ubona ibimenyetso bya albinism ku mwana wawe, vugana n'umuvuzi wawe. Hamagara umuvuzi wawe niba umwana wawe ufite albinism agira amaraso menshi mu mazuru, akomeretsa vuba cyangwa indwara zirambye. Ibi bimenyetso bishobora kugaragaza uburwayi bwa kamere buke ariko bukomeye burimo albinism.

Ubwo umwana wawe avuka, umukozi w’ubuzima ashobora kubona ko adafite ibara ry’umubiri cyangwa uruhu bigira ingaruka ku marimi n’imizigo. Umuntu utanga serivisi z’ubuzima arashobora gutegeka isuzuma ry’amaso kandi agakurikirana impinduka zose mu ibara ry’uruhu rw’umwana wawe no kubona.

Niba ubona ibimenyetso bya albinism mu mwana wawe, vugana n’umukozi w’ubuzima.

Hamagara umukozi w’ubuzima wawe niba umwana wawe ufite albinism agira kuva amaraso mu mazuru kenshi, agakomeretsa byoroshye cyangwa agakura indwara zirambye. Ibi bimenyetso bishobora kugaragaza uburwayi bwa kamere buke ariko bukomeye burimo albinism.

Kugira indwara iterwa na gene ebyiri zihinduwe, uragomba guhabwa gene ebyiri zihinduwe, zimwe muzi zikunze kwitwa mutations. Ubona imwe kuri buri mubyeyi. Ubuzima bwabo ntabwo bugira ingaruka kuko bafite gene imwe gusa yahinduwe. Ababyeyi babiri bafite gene yahinduwe bafite amahirwe 25% yo kubyara umwana udaharibwa ufite gene ebyiri zitahinduwe. Bafite amahirwe 50% yo kubyara umwana udaharibwa ariko akaba afite gene yahinduwe. Bafite amahirwe 25% yo kubyara umwana urwaye ufite gene ebyiri zihinduwe.

Gene nyinshi zitanga amabwiriza yo gukora imwe muri proteine nyinshi zifasha mu gukora melanin. Melanin ikorwa na cellules zikunze kwitwa melanocytes ziboneka mu ruhu, mu musatsi no mu maso.

Albinism iterwa no guhinduka kwa gene imwe muri izo gene. Ubwoko butandukanye bwa albinism bushobora kubaho, bushingiye ahanini ku guhinduka kwa gene watumye iyo ndwara ibaho. Guhinduka kwa gene bishobora gutuma nta melanin ibaho cyangwa igabanuka cyane.

Ubwoko bwa albinism buhurizwa hamwe bushingiye ku buryo bwo kuyihererekanya mu miryango no kuri gene yahungabanyijwe.

• Oculocutaneous albinism (OCA), ubwoko bwose, bivuze ko umuntu abona kopi ebyiri za gene yahinduwe - imwe kuri buri mubyeyi. Ibi bita autosomal recessive inheritance. OCA iterwa no guhinduka kwa gene imwe muri gene umunani, zizwi kuva kuri OCA1 kugeza kuri OCA8. OCA itera igabanuka ry'igipimo cy'urukara mu ruhu, mu musatsi no mu maso, ndetse n'ibibazo by'ububone. Igipimo cy'urukara gihinduka bitewe n'ubwoko. Ibara ry'uruhu, umusatsi n'amaso bihinduka bitewe n'ubwoko kandi mu bwoko bumwe.
• Ocular albinism ahanini iba mu maso gusa, itera ibibazo by'ububone. Ubwoko bwose bwa ocular albinism ni ubwoko bwa 1. Ubwoko buhererekanywa na gene yahinduwe kuri chromosome X. X-linked ocular albinism ishobora guhererekanywa na nyina ufite gene imwe yahinduwe kuri umuhungu we. Ibi bita X-linked recessive inheritance. Ocular albinism isanzwe iba mu bagabo gusa. Ni gake cyane kurusha OCA.
• Albinism ifitanye isano na syndromes z'indwara zikomoka ku miryango ishobora kubaho. Urugero, Hermansky-Pudlak syndrome irimo ubwoko bwa OCA, ndetse n'ibibazo byo kuva amaraso no gukomeretsa, indwara z'ibihaha n'amara. Chediak-Higashi syndrome irimo ubwoko bwa OCA, ndetse n'ibibazo by'umubiri uhora ufite ubwandu, ibibazo by'ubwonko n'imiterere, ibibazo byo kuva amaraso, n'ibindi bibazo bikomeye.

Ibyago biterwa n'uko umwe mu babyeyi cyangwa bombi bafite gene itera indwara. Ubwoko butandukanye bwa albinism bufite uburyo butandukanye bwo kwandura.

Albinism irashobora kuba irimo ingaruka ku ruhu no ku maso. Ishobora kandi kuba irimo imbogamizi zo mu mibanire n'abantu ndetse n'izo mu byiyumvo.

Ibibazo byo kubona bishobora kugira ingaruka ku myigire, ku kazi n'ubushobozi bwo gutwara ibinyabiziga.

Abantu bafite albinism bafite uruhu rurererana cyane n'izuba. Kwikomeretsa izuba ni kimwe mu bibazo bikomeye bya albinism. Izuba rishobora gutera ibibazo by'uruhu, ibyo bishobora gutera uruhu kubyimba no gukara. Kwikomeretsa izuba bishobora kandi kongera ibyago byo kurwara kanseri y'uruhu.

Kubera kubura ibara ry'uruhu, ubwoko bwa kanseri y'uruhu bwitwa melanoma bushobora kugaragara nk'ibibyimba by'umutuku cyangwa ibishishwa, aho kuba ibara ryirabura cyangwa ry'umukara nk'uko bisanzwe. Ibi bishobora gutuma kanseri y'uruhu ikomerana kuboneka mu gihe cyambere. Hadatakaje isuzuma ry'uruhu rihoraho kandi rikomeye, melanoma ishobora kutamenyekana kugeza igeze kure.

Bamwe mu bantu bafite albinism bashobora guhura n'ivangura. Ibikorwa by'abandi bantu ku bantu bafite albinism bishobora kugira ingaruka mbi ku bantu bafite iyi ndwara.

Abantu bafite albinism bashobora guhura no gutotezwa, guseka cyangwa ibibazo bidakenewe ku isura yabo, ibyuma byo kubona cyangwa ibikoresho byo kubona. Bashobora kugaragara batandukanye n'abagize imiryango yabo cyangwa amatsinda yabo, bityo bashobora kumva nk'abanyamahanga cyangwa bakitwarwa nk'abanyamahanga. Ibi byiyumvo bishobora gutera ukwigunga mu mibanire, kugira icyizere gito no kwiheba.

Gukoresha ijambo "umuntu ufite albinism" ni byiza kugira ngo birinde ingaruka mbi z'andi magambo.

Niba umuntu wo mu muryango afite albinism, umujyanama w’imfubyi ashobora kugufasha gusobanukirwa ubwoko bwa albinism n’amahirwe yo kubyara umwana uzaba afite albinism mu gihe kizaza. Umujyanama ashobora gusobanura ibizamini bya gene bifitwe.

Ubwoko bw'albinism bumenyekana binyuze muri: Isuzuma ngirakamaro ry'umubiri, harimo no kureba imiterere y'uruhu n'umusatsi. Isuzuma rirambuye ry'amaso. Kugereranya imiterere y'uruhu rw'umwana wawe n'iy'abandi bagize umuryango. Gusubiramo amateka y'ubuzima bw'umwana wawe, harimo niba hari amaraso atahagarara, ibikomere byinshi cyangwa bikomeye, cyangwa indwara zitunguranye. Umuhanga mu ndwara z'amaso n'ubuvuzi bw'amaso, akenshi witwa umuganga w'amaso, ni we ukwiye gukora isuzuma ry'amaso ry'umwana wawe. Isuzuma ririmo isuzuma rikorewe hakoreshejwe ibikoresho byo kureba retina no kureba niba hari ibimenyetso by'ibibazo mu iterambere cyangwa imikorere y'amaso. Isuzuma rya genetika rishobora gufasha kumenya ubwoko bw'albinism n'ingaruka zo kohereza impinduka z'imiterere ku bana.

Albinism ni indwara ikomoka ku mbaraga, kandi kuri ubu nta muti wayo uraboneka. Ubuvuzi bushingiye ku kubona ubuvuzi bw'amaso bukwiye no gukurikirana uruhu kugira ngo habeho ibibazo. Itsinda ryanyu ryita ku buzima rishobora kuba ririmo umuvuzi wanyu wa mbere, inzobere mu bijyanye no kwita ku maso yitwa umuganga w'amaso n'inzobere mu bijyanye no kwita ku ruhu yitwa umuganga w'uruhu.

Inzobere mu mbaraga ishobora gufasha kumenya ubwoko bw'albinism. Aya makuru ashobora gufasha kuyobora ubuvuzi, kumenya ibibazo bishoboka no kumenya ibyago by'iyi ndwara ku bana bazakurikira.

Ubuvuzi busanzwe burimo:

• Kwita ku maso. Ibi birimo gukorerwa isuzuma ry'amaso nibura buri mwaka n'umuganga w'amaso. Uzaba ukeneye ibyuma by'amaso kugira ngo bigufashe mu bibazo by'ububone. Nubwo kubagwa bitaba ari kimwe mu byo kuvura ibibazo by'amaso bifitanye isano na albinism, umuganga wanyu w'amaso ashobora kugutekerezaho kubagwa ku mitsi y'amaso kugira ngo agabanye nystagmus. Kubagwa kugira ngo hakorwe ku kibazo cya strabismus bishobora gutuma iyi ndwara iba igaragara cyane.
• Kwita ku ruhu no gukumira kanseri y'uruhu. Ibi birimo gukorerwa isuzuma ry'uruhu nibura buri mwaka kugira ngo harebwe kanseri y'uruhu cyangwa ibintu bishobora gutera kanseri. Ubwoko bukomeye bwa kanseri y'uruhu yitwa melanoma ishobora kugaragara nk'ibishishwa by'umutuku cyangwa by'umutuku. Ibishishwa, bifite ibara cyangwa bidafite ibara - cyane cyane iby'umutuku cyangwa umutuku kandi bikomeza guhinduka - bigomba kurebwa n'inzobere mu ruhu ako kanya.

Abantu bafite indwara ya Hermansky-Pudlak cyangwa Chediak-Higashi bakeneye ubuvuzi bwihariye buhoraho kubibazo by'ubuzima no gukumira ibibazo.