Konke odinga ukukwazi mayelana ne-albinism ezinganeni

Yini i-albinism?

Abantu abane-albinism ngokuvamile babonakala ngokuba nesikhumba esihle kakhulu nezinwele. Kuyi-a isifo izakhi zofuzo ezivame ukubangela umonakalo omkhulu embonweni. Ithinta cishe 20,000 abantu eFrance.

Kungaba yini imbangela ye-albinism?

Imbangela enkulu ye-albinism iwukuba nesici ukukhiqizwa kwe-melanin emzimbeni walabo abathintekile. Indima yayo ukuvikela isikhumba emisebeni ye-ultraviolet. Iphinde ivumele amehlo ukuthi akwazi ukumunca i-ultraviolet. Ikakhulukazi lokho okuchaza umbala wamehlo.

Ingabe ubu-albinism butholakala njengefa?

I-Albinism iyisifo ngempela esingadluliselwa kubazali balowo othintekile. Isakhi sofuzo esiqukethe okungavamile ekukhiqizweni kwe-melanin singadluliselwa enganeni. 

I-albinism ye-ocular kanye ne-oculo-cutaneous albinism

Ngakho-ke uthando luthinta isikhumba, kodwa futhi izinwele namehlo, ngeqoqo lombala ophuzi kakhulu. Kubangela a ukukhubazeka okuqinile kokubona. Ukusabalala kwayo cishe ku-5% emhlabeni jikelele.

Kuye ngezitho zomzimba ezithintekayo ngenxa ye-albinism, uhlobo luyashintsha. I-albinism yamehlo ithinta amehlo kuphela. Ivela i-chromosome X futhi igqokwa ngabesifazane. Izingane zabo zabafana kuphela ezingathinteka.

Uma lesi sifo sithinta ezinye izingxenye zomzimba (isikhumba, izinwele, izinwele zomzimba), i-oculocutaneous albinism (AOC). Ihlukaniswa ngokuthi a ukukhanya kakhulu kwe-pigmentation noma ukungabi bikho kombala emehlweni, izinwele zomzimba, izinwele nesikhumba.

Ukungaphatheki kahle kwalesi sifo sokugcina kuwubuhle kodwa kungandisa ingozi yomdlavuza. I-albinism ye-Oculocutaneous ingahlotshaniswa nokungajwayelekile kwegazi-immunological, pulmonary, digestive kanye neurological.

Bheka iwebhusayithi ye-Haute Autorité de Santé ukuze uthole incazelo enemininingwane yezimpawu ze-AOC.

Iyini imiphumela yobu-albinism? Abangaboni kahle

La ukungaboni kahle kahle ingenye yezimpawu eziyinhloko ze-albinism.

Kungaba okumaphakathi kuya kokuqina. Ngaphandle kwe-pathology ehlotshaniswa nayo, lokhu kukhubazeka kokubuka kuhlala kuzinzile. Ukubona imibala kuvame ukujwayelekile. I-Visual acuity iyathuthukiswa ekuboneni eduze, okuvumela ukufunda esikoleni esijwayelekile.

Ngalolu hlobo oluphelele lwe-albinism (AOC), usana lubambezeleka ekutholeni i-psychovisual reflexes. Ngamafomu angaphelele, lokhu kukhubazeka kokubuka kungase kunciphe ngokuya ngeminyaka.

Izingane ezine-albinism: yini i-nystagmus?

Le i-nystagmus yokuzalwa, ekhona ezimweni eziningi kuma-albino, ngokuvamile angekho lapho ezalwa, angatholakala ezinyangeni zokuqala ngemva kokuzalwa, ngesikhathi sokuvuthwa kwe-fovea, indawo ye-retina lapho umbono wemininingwane unembile kakhulu. Kungumnyakazo ongazikhethelanga, onyakazayo wenhlamvu yeso. I-Visual acuity incike kuyo.

Ingatholwa ngesikhathi sokuhlolwa kokuhlolwa. Ingagcizelelwa nge-glare futhi inciphise ngokugqoka ama-lens okulungisa.

I-Albinism: yini i-photophobia?

I-Photophobia yi-a ukuzwela okwedlulele kwamehlo ekukhanyeni. Ku-albinism, i-photophobia ivela ekunciphiseni ukuhlunga ukukhanya okwesibili kuya ekuntuleni kwe-melanin. Ikhona kwezinye izifo ze-retinal noma ze-ocular ezifana l'aniridie et i-achromatopsie.

I-Albinism: yiziphi iziphazamiso ezibonakalayo, noma i-ametropia?

Kungakhathaliseki ubudala babo, abantu abane-albinism kufanele bahlolwe amehlo abo. Ngempela, i i-ametropia bavame nalesi sifo: strabismus, hyperopia, presbyopia, astigmatism.

Ubu-Albinism: bukhona kangaki?

I-Albinism yisimo esitholakala emhlabeni wonke, kodwa siyivelakancane kakhulu eYurophu. Kodwa-ke, iyahlukahluka kuye ngesimo futhi ukusuka ezwenikazi kuye kwelinye izwekazi.

Ngokwe-HAS, cishe u-15% weziguli ezingama-albino azinawo ukuxilongwa kwamangqamuzana. Isizathu ? Kubili okunokwenzeka: ukuguqulwa kwezakhi zofuzo kungatholakala ezindaweni ezingakahlolwa zezakhi zofuzo ezaziwayo futhi azitholwa ngamasu ayisisekelo noma kukhona ezinye izakhi zofuzo ezibangela ubu-albinism kulaba bantu.

I-Albinism: yikuphi ukwesekwa?

Ukuxilonga, ukuqapha nokuphatha isifo esibangelwa yi-albinism, udokotela wesikhumba, udokotela wamehlo, i-geneticist, i-ENT, sebenzisana. Indima yabo? Phakamisa futhi uqinisekise a ukunakekelwa kwemikhakha eminingi yeziguli ezine-AOC.

Izingane kanye nabantu abadala abathintwe yilesi simo bahlolwa umhlaba wonke (i-dermatological, ophthalmological and genetic) okwenziwa yilaba dokotela abahlukene phakathi nokulaliswa esibhedlela emini. Futhi, iziguli ziyazuza emfundweni yokwelapha ehlobene ne-albinism ngokuvamile kanye ne-AOC, ikakhulukazi.

Kunesizindalwazi somtholampilo nesofuzo se-albinism ye-oculocutaneous, ngakho-ke ukuxilongwa kungenziwa ngesisekelo sephaneli yokulandelana okuvumela ukuhlaziya izakhi zofuzo ezaziwa ukuthi ziyabandakanyeka ku-oculocutaneous albinism.

I-Albinism: yikuphi ukwelashwa?

Nakhu akukho ukwelashwa ukukhulula ubu-albinism. Ukulandelela i-ophthalmological and dermatological kubalulekile ukuze kulungiswe ukukhubazeka okubukwayo okuhlobene nesifo.

Kubantu abane-albinism, ukuvikela ilanga kubalulekile, ukuze ugweme ingozi yomdlavuza, isikhumba sibe ntekenteke kakhulu futhi siyazwela emisebeni ye-UV. Ngakho-ke ukuvikelwa kwesikhumba namehlo kubalulekile lapho kukhona ilanga. Izinyathelo okufanele zithathwe: hlala emthunzini, gqoka izingubo zokuzivikela, izigqoko, izibuko zelanga, futhi usebenzise 50+ index cream ezindaweni ezisobala zesikhumba.