Albinism ni iki? Ibimenyetso, Impamvu, n'Ubuvuzi

Albinism ni uburwayi bwa gene, aho umubiri wawe utera melanine nke cyangwa nta yo, ari yo igira uruhare mu gutuma uruhu, umusatsi n'amaso byagira ibara. Ibi biterwa n'impinduka mu gene zigenga iterambere rya melanine, bikagira ingaruka ku bantu b'amoko yose ku isi.

Nubwo albinism ikunze kutumvikana, ni uburyo bundi umubiri wawe ukoramo pigment. Abantu benshi bafite albinism babaho ubuzima buzira umuze, bafite ubuzima bwiza, bafite ubuvuzi bukwiye no kwirinda izuba.

Albinism ni iki?

Albinism ibaho iyo umubiri wawe udashobora gukora melanine ihagije, pigment isanzwe ifite uruhare mu gutuma uruhu, umusatsi n'amaso bigira ibara. Tekereza kuri melanine nk'uburyo umubiri wawe wirindira izuba kandi ukaba ufite ibara.

Ubu burwayi bugira ingaruka ku bantu bagera kuri 1 kuri 17.000 kugeza kuri 20.000 ku isi. Si uburwayi ufata cyangwa ugira uko buzira. Ahubwo, uba wavukanye kubera impinduka runaka za gene zikomoka ku babyeyi bawe.

Abantu bafite albinism bakunze kugira uruhu rwera cyane, umusatsi wera cyangwa umuhondo, n'amaso yera. Ariko kandi, ingano ya pigment ishobora gutandukana cyane ukurikije umuntu, ndetse no mu muryango umwe.

Ni ayahe moko ya Albinism?

Hari ubwoko butandukanye bwa albinism, buri bwoko bugira ingaruka zitandukanye ku iterambere rya pigment. Ibyiciro bibiri by'ingenzi ni oculocutaneous albinism na ocular albinism.

Oculocutaneous albinism (OCA) igira ingaruka ku ruhu, umusatsi n'amaso. Ni yo y'ingenzi, ifite ubwoko bune bw'ingenzi bwitwa OCA1 kugeza kuri OCA4. Buri bwoko burimo gene zitandukanye kandi butera ibara ritandukanye.

OCA1 isanzwe ituma nta melanine ikorwa, bigatuma umusatsi uba wera, uruhu rwera cyane, n'amaso yera. OCA2, igaragara cyane mu bantu b'Abanyafurika, irema pigment imwe, bityo umusatsi ushobora kuba umuhondo cyangwa umukara.

Ocular albinism igira ingaruka ahanini ku maso, igasiga ibara ry'uruhu n'umusatsi bisanzwe. Ubu bwoko buke cyane kandi bugira ingaruka ahanini ku bagabo kuko bujyanye na chromosome X.

Ubundi bwoko buke burimo Hermansky-Pudlak syndrome na Chediak-Higashi syndrome. Ibi birimo ibindi bibazo by'ubuzima uretse ibimenyetso bisanzwe bya albinism kandi bisaba ubuvuzi bwihariye.

Ni ibihe bimenyetso bya Albinism?

Ibimenyetso by'ingenzi bya albinism birimo impinduka mu ibara n'ubuhumekero. Ibi bimenyetso bigaragara kuva ku ivuka cyangwa mu buto.

Dore ibimenyetso bisanzwe ushobora kubona:

• Uruhu rwera cyane rwaka vuba mu zuba
• Umusatsi wera, umuhondo cyangwa umukara
• Amaso yera, y'ibara ry'ikizungu cyangwa umukara
• Amaso asa n'ay'umutuku mu mwijima
• Kugira ikibazo cyo kubona mu mwijima
• Kugira imikorere idasanzwe y'amaso (nystagmus)
• Amaso adakurikirana hamwe neza
• Kugira ikibazo cyo kubona kure cyangwa hafi

Ibibazo by'amaso ni byinshi cyane kuko melanine igira uruhare mu iterambere ry'amaso. Kubura pigment bigira ingaruka ku iterambere rya retina n'uburyo ubwonko bukoramo amakuru y'amaso.

Ni ngombwa kumva ko ibimenyetso bishobora gutandukana cyane. Bamwe bafite pigment nyinshi kurusha abandi, bigatuma umusatsi cyangwa amaso aba umukara kurusha uko byakwitezwaga muri albinism.

Ni iki giteza Albinism?

Albinism iterwa n'impinduka mu gene runaka zigena iterambere rya melanine. Izi mpinduka za gene ziraturuka ku babyeyi bawe, bisobanura ko wavukanye ubu burwayi.

Umubiri wawe ukeneye gene zitandukanye zikorera hamwe kugira ngo ukore melanine neza. Iyo imwe cyangwa nyinshi muri izi gene ihinduka cyangwa igira mutation, ihagarika uburyo busanzwe bwo gukora pigment.

Ubwoko bwinshi bwa albinism bukurikira uburyo bwa autosomal recessive. Ibi bivuze ko ugomba kuzura gene yahindutse ku babyeyi bombi kugira ngo ugire albinism. Niba uzura gene imwe yahindutse, uri umutwaye ariko ntuzagira albinism.

Gene zikunze kugaragara cyane harimo TYR, OCA2, TYRP1, na SLC45A2. Buri gene igenga intambwe itandukanye mu iterambere rya melanine, ari yo mpamvu hari ubwoko butandukanye bwa albinism bufite ibimenyetso bitandukanye.

Ocular albinism itandukanye kuko ari X-linked, bisobanura ko impinduka ya gene iri kuri chromosome X. Ni yo mpamvu igira ingaruka ahanini ku bagabo, bafite chromosome X imwe gusa.

Ni ibihe bintu byongera ibyago bya Albinism?

Ikintu cy'ingenzi cyongera ibyago bya albinism ni ukugira ababyeyi batwara impinduka za gene zijyanye n'ubu burwayi. Kubera ko albinism iraturuka mu muryango, amateka y'umuryango ni yo ngingo y'ingenzi.

Niba ababyeyi bombi ari abatwara gene imwe ya albinism, hari amahirwe 25% kuri buri gihe cyo gutwita ko umwana wabo azagira albinism. Ababyeyi batwara gene isanzwe baba bafite ibara risanzwe.

Utukuntu tumwe two mu bantu bafite ubwoko butandukanye bwa albinism. Urugero, OCA2 igaragara cyane mu bantu b'Abanyafurika, mu gihe OCA1 ikwirakwira mu matsinda y'amoko yose.

Gushakana kw'abantu bafitanye isano, aho ababyeyi bafitanye isano, bishobora kongera ibyago kuko ababyeyi bombi bafite amahirwe menshi yo gutwara impinduka za gene zimwe. Ariko kandi, albinism ishobora kuba mu muryango uwo ari wo wose, utabariye ubwoko cyangwa amateka y'umuryango.

Ni ryari ukwiye kujya kwa muganga kubera Albinism?

Ukwiye kujya kwa muganga niba ubona ibimenyetso bya albinism kuri wewe cyangwa ku mwana wawe. Kumenya hakiri kare no kuvurwa birashobora gufasha kwirinda ingaruka no gutuma amaso aterambere neza.

Tegura gahunda yo kujya kwa muganga niba ubona uruhu rwera cyane n'umusatsi, amaso yera, cyangwa ibibazo by'amaso nko kubabara mu mwijima cyangwa imikorere idasanzwe y'amaso. Ibi bimenyetso bifatanije bikunze kugaragaza albinism.

Kusuzuma amaso buri gihe ni ingenzi cyane ku bantu bafite albinism, byaba byiza guhera mu buto. Umuganga w'amaso arashobora kugenzura iterambere ry'amaso no kugira inama y'ubuvuzi kugira ngo amaso abone neza.

Ugomba kandi kubona umuganga w'uruhu kugira ngo utegure gahunda yo kwirinda izuba. Abantu bafite albinism bafite ibyago byinshi byo kwangirika kw'uruhu na kanseri y'uruhu utabyitayeho.

Shaka ubuvuzi bw'ihutirwa niba ubona impinduka mu duheri cyangwa ibimenyetso ku ruhu, ibikomere bidakira, cyangwa ubundi bwongereke butasanzwe ku ruhu. Ibi bishobora kuba ibimenyetso bya kanseri y'uruhu, ikunze kugaragara cyane ku bantu bafite albinism.

Ni iyihe ngaruka zishoboka za Albinism?

Nubwo albinism ubwayo atari ikintu cyangiza ubuzima, ishobora gutera ingaruka nyinshi zisaba ubuvuzi buhoraho. Ibibazo bikomeye birimo ibibazo by'amaso n'ibyago byinshi bya kanseri y'uruhu.

Dore ingaruka zikomeye zishobora kubaho:

• Kubura ubushobozi bwo kubona cyangwa ubuhumyi
• Ibyago byinshi bya kanseri y'uruhu, harimo melanoma
• Kwaka cyane kw'uruhu no kwangirika
• Ibibazo by'imibanire n'iby'amarangamutima kubera itandukaniro ry'isura
• Ibibazo byo kwiga bijyanye n'ibibazo by'amaso
• Kubura ubushobozi bwo kubona ibintu biri kure cyangwa hafi

Ibibazo by'amaso ni ibibazo bikomeye kuko bidakemurwa neza na lunettes cyangwa lentilles. Abantu benshi bafite albinism bafite ubushobozi buke bwo kubona kandi bashobora kuba bafite ubuhumyi.

Ibyago bya kanseri y'uruhu ni byinshi cyane kuko melanine isanzwe ikingira uruhu rwawe imirasire y'izuba. Utabifite, no kwibasirwa n'izuba gato bishobora gutera ibibazo.

Ubwoko bumwe bwa albinism, nka Hermansky-Pudlak syndrome, bushobora gutera ibindi bibazo nko kudakira neza ibikomere, ibibazo by'ibihaha, cyangwa kubabara mu nda. Ibi bisaba ubuvuzi bwihariye mu buzima bwose.

Albinism imenyekanwa gute?

Albinism ikunze kumenyekana hashingiwe ku isura n'amateka y'umuryango. Muganga azasuzumira uruhu rwawe, umusatsi n'amaso kugira ngo arebe ibimenyetso by'ikibazo cy'ibara.

Kusuzuma amaso ni ingenzi cyane mu kumenya uburwayi. Umuganga w'amaso azareba impinduka runaka muri retina na optic nerve zibaho muri albinism, nko foveal hypoplasia cyangwa misrouting ya optic nerve fibers.

Isuzumwa rya gene rishobora kwemeza uburwayi no kumenya ubwoko bwa albinism. Ibi bikorwa hakoreshejwe igipimo cy'amaraso gishobora kureba impinduka mu gene zizwiho gutera albinism.

Muganga wawe ashobora kandi gukora ibindi bipimo kugira ngo akureho ubundi burwayi. Ibi bishobora kuba harimo kugenzura uburyo ubona, gusuzuma uruhu rwawe munsi y'amatara yihariye, cyangwa gusuzuma ibibazo byo kudakira neza ibikomere niba hari ubwoko buke bukekwa.

Isuzumwa ryo mu nda riboneka niba ababyeyi bombi ari abatwara gene. Ibi bishobora gukorwa hakoreshejwe amniocentesis cyangwa chorionic villus sampling mu gihe cyo gutwita.

Ni iki kivura Albinism?

Nta muti wa albinism, ariko ubuvuzi butandukanye bushobora gufasha gucunga ibimenyetso no kwirinda ingaruka. Icy'ingenzi ni ukurinda amaso n'uruhu no gufasha ubuzima bwawe muri rusange.

Kwita ku maso ni ingenzi cyane. Muganga w'amaso ashobora kugira inama ya lunettes, lentilles, cyangwa ibikoresho byo kubona neza. Bamwe bagira akamaro mu kubagwa kugira ngo bakosore ibibazo by'imikurire y'amaso.

Kwiringira izuba ni ingenzi cyane. Ibi bivuze gukoresha amavuta yo kwiringira izuba afite SPF 30 cyangwa hejuru, kwambara imyenda ikwirinda izuba, no kwirinda igihe cy'izuba ryinshi.

Dore uburyo nyamukuru bwo kuvura:

• Lunettes cyangwa lentilles zo gukosora amaso
• Ibikoresho byo kubona neza nka loupes cyangwa software yihariye ya mudasobwa
• Kubagwa kubera ibibazo by'imikurire y'amaso cyangwa nystagmus
• Kusuzuma uruhu buri gihe kugira ngo harebwe kanseri y'uruhu
• Ubujyanama cyangwa amatsinda y'ubufasha kugira ngo amarangamutima abe meza
• Ubufasha mu kwiga kubera ibibazo by'amaso

Ubundi buvuzi bushya buri gukorwaho, harimo gene therapy n'imiti ishobora gufasha gukora melanine nyinshi. Ariko kandi, ibi bigeragezwa kandi bitaboneka hose.

Uko wakwita ku buzima bwawe mu gihe ufite Albinism

Kwita ku buzima bwawe mu gihe ufite albinism ni ukwirinda izuba, kwita ku maso, no kugira amarangamutima meza. Imikorere ya buri munsi igira uruhare mu kwirinda ingaruka.

Kwiringira izuba bigomba kuba mu mirimo yawe ya buri munsi, ndetse no mu gihe ari ibicu. Shyira amavuta yo kwiringira izuba iminota 30 mbere yo kujya hanze kandi usubire kuyashyira buri masaha abiri. Kwambara ingofero nini, imyenda miremire, n'izuba buri gihe bishoboka.

Tegura ahantu ho gukorera hameze neza mu rugo hafi y'amatara yo gusoma no gukora imirimo ya hafi. Tekereza gukoresha ibitabo binini, ibikoresho bifite ibara ryiza, cyangwa ibikoresho byo kubona neza uko bikenewe.

Kusuzuma uruhu rwawe buri gihe ni ingenzi mu kumenya impinduka hakiri kare. Suzuma uruhu rwawe buri kwezi kugira ngo urebe udushya, impinduka mu duheri usanzwe ufite, cyangwa ibikomere bidakira.

Komeza ube muri amatsinda y'ubufasha cyangwa muri internet ku bantu bafite albinism. Gusangira uburambe n'amabanga n'abandi bumva bishobora gufasha cyane mu byo gukora no mu by'amarangamutima.

Uko Albinism yakwirindwa

Albinism ntishobora kwirindwa kuko ari uburwayi bwa gene wavukanye. Ariko kandi, ubujyanama bwa gene burashobora gufasha imiryango kumva ibyago byabo no gufata ibyemezo byiza mu gutegura umuryango.

Niba ufite albinism cyangwa uri umutwaye, ubujyanama bwa gene burashobora gusobanura amahirwe yo gutwara ubu burwayi ku bana bawe. Umujyanama wa gene arashobora kugufasha kumva uburyo bwo gutwara gene n'ibipimo biriho.

Isuzumwa ryo mu nda riboneka ku bantu bombi ari abatwara gene kandi bashaka kumenya niba umwana wabo azagira albinism. Aya makuru arashobora kugufasha gutegura ibyo umwana wawe akeneye.

Nubwo utazibuza albinism ubwayo, urashobora kwirinda ingaruka nyinshi zayo binyuze mu kwitaho no kwiringira izuba mu buzima bwose.

Uko wakwitegura kujya kwa muganga

Kwita ku buzima bwawe mu gihe ufite albinism ni ukwirinda izuba, kwita ku maso, no kugira amarangamutima meza. Imikorere ya buri munsi igira uruhare mu kwirinda ingaruka.

Andika amateka y'umuryango wawe, cyane cyane abafite albinism, ibibazo by'amaso, cyangwa ibara ritari ryo. Aya makuru afasha muganga wawe kumva ubwoko bwawe n'ibyago.

Zana urutonde rw'imiti ukoresha, imiti y'inyongera, n'ibikoresho byo kubona neza ukoresha. Nanone, andika impinduka z'uruhu cyangwa ibimenyetso by'uburwayi ubona.

Tegura ibibazo bijyanye no kwita ku buzima bwawe, kwiringira izuba, ibikoresho byo kubona neza, n'ibibazo bijyanye n'ingaruka. Ntugatinye kubabaza ibibazo bijyanye n'amatsiko y'ubufasha cyangwa ubufasha mu kwiga.

Icy'ingenzi kuri Albinism

Albinism ni uburwayi bwa gene bushobora kuvurwa bugira ingaruka ku iterambere rya pigment mu ruhu, umusatsi n'amaso. Nubwo bigira ibibazo bimwe, cyane cyane kubona n'izuba, abantu benshi bafite albinism babaho ubuzima buzira umuze, bafite ubuzima bwiza.

Icy'ingenzi mu kubaho neza ufite albinism ni ukwitaho no kwiringira izuba. Ibi bivuze gusuzuma amaso buri gihe, kwiringira izuba buri gihe, gusuzuma uruhu buri gihe, no kuba hafi y'abaganga bumva ubu burwayi.

Wibuke ko albinism ari kimwe mu bintu bigukoraho. Ufite ubuvuzi bukwiye n'ubufasha, ushobora kugera ku ntego zawe, kugira imibanire myiza, no kwishimira ubuzima nk'abandi.

Komeza umenye ibijyanye n'ubuvuzi bushya n'ubushakashatsi, ariko ntukareke ubu burwayi bugufata. Fata icyemezo cyo gukora ibyo ushoboye n'ubufasha buhari kugira ngo ubeho neza.

Ibibazo byakunze kubaho kuri Albinism

Q1: Abantu bafite albinism bashobora kubyara abana badafite albinism?

Yego, abantu bafite albinism bashobora kubyara abana badafite ubu burwayi. Niba uwo bashakanye adafite impinduka za gene zimwe, abana babo bazaba abatwara gene ariko ntibazagira albinism. Uburyo bwo gutwara gene biterwa n'ubwoko bwa albinism n'ubuzima bwa gene bw'ababyeyi bombi.

Q2: Abantu bafite albinism bafite amaso y'umutuku?

Abantu bafite albinism ntabwo bafite amaso y'umutuku. Amaso yabo akenshi aba yera, y'ibara ry'ikizungu cyangwa umukara. Ibara ry'umutuku rigaragara gusa mu mwijima iyo umucyo ugaruka mu mitsi y'amaraso inyuma y'ijisho kubera kubura pigment.

Q3: Albinism ishobora kuza nyuma y'imyaka?

Oya, albinism ni uburwayi bwa gene wavukanye. Ntibuza nyuma y'imyaka. Ariko kandi, bamwe bafite ubwoko buke bashobora kutamenya kugeza mu buto iyo ibibazo by'amaso bigaragara cyangwa iyo babyara abana bafite ubu burwayi.

Q4: Albinism igaragara cyane mu matsinda y'amoko amwe?

Ubwoko butandukanye bwa albinism bugira ingaruka ku matsinda y'amoko amwe. Urugero, OCA2 igaragara cyane mu bantu b'Abanyafurika, mu gihe OCA1 ikwirakwira mu matsinda y'amoko yose. Ariko kandi, albinism ishobora kugira ingaruka ku muntu uwo ari we wese utabariye ubwoko bwe.

Q5: Abantu bafite albinism bashobora gukara cyangwa guhinduka ibara iyo bari mu zuba?

Abantu benshi bafite albinism ntibakara kandi bakaka gusa iyo bari mu zuba. Bamwe bafite ubwoko bumwe bwa albinism bashobora guhinduka ibara gato, ariko ibi ni bike kandi ntibigira akamaro mu kwirinda imirasire y'izuba. Kwiringira izuba biguma ari ingenzi utabariye impinduka z'ibara.