Albinism

Shoko rokuti albinism kazhinji rinoreva oculocutaneous (ok-u-low-ku-TAY-nee-us) albinism (OCA). OCA boka rematambudziko anofambiswa mudzimba umo muviri unoshandisa zvishoma kana kuti hapana chinhu chinonzi melanin. Rudzi nemwero we melanin mumuviri wako unoratidza ruvara rweganda rako, bvudzi nemaziso. Melanin inototambirawo basa mukukura nekushanda kwemaziso, saka vanhu vane albinism vane matambudziko ekukuona. Zviratidzo zve albinism kazhinji zvinoonekwa muvara reganda, bvudzi nemaziso, asi dzimwe nguva musiyano unenge uri muduku. Vanhu vane albinism vanonzwawo zvakanyanya kukanganiswa nezuva, saka vari panjodzi yakakura yekuwana ganda rekenza. Kunyangwe pasina mushonga we albinism, vanhu vane chirwere ichi vanogona kutora matanho ekudzivirira ganda ravo nemaziso avo uye kuwana hanya yakakodzera yemaziso neganda.

Zviratidzo zvealbinism zvinosanganisira ruvara rweganda, bvudzi nemaziso, pamwe chete nekuona. Mhando iri nyore yealbinism kuona inobereka bvudzi jena neganda rakacheneruka zvikuru kana ichienzaniswa nehama kana vamwe vanhu vane ropa rakafanana. Asi ruvara rweganda, rinonziwo pigmentation, neruvara rwebvudzi zvinogona kubva pachena kusvika kune brown. Vanhu vechidzika cheAfrica vane albinism vanogona kunge vane ganda rakaoma brown kana red brown uye vane mafreckles. Kune vamwe vanhu, ruvara rweganda runogona kunge rwakaenzana nererababa kana hama vasina albinism. Nekuratidzwa nezuva, vamwe vanhu vanogona kuumba: Freckles. Moles, ine kana isina ruvara, dzimwe nguva dzine pink. Mabhokisi makuru akaita sefreckles, anonzi solar lentigines (len-TIJ-ih-neez). Kusvibiswa nezuva uye kusakwanisa kuve brown. Kune vamwe vanhu vane albinism, ruvara rweganda harushanduki. Kune vamwe, kugadzirwa kwe melanin kunogona kutanga kana kuwedzera panguva yehudiki nemakore echidiki, zvichiguma nekuchinja kuri nyore muvara. Ruvara rwebvudzi runogona kubva pachena kwazvo kusvika kune brown. Vanhu vechidzika cheAfrica kana Asia vane albinism vanogona kunge vane ruvara rwebvudzi ruri yellow, red kana brown. Ruvara rwebvudzi runogonawo kuita rima nekupera kwehudiki. Kana bvudzi rinogona kusvibiswa nekubata neminerals mumvura uye munzvimbo yakapoteredza, zvichiita kuti bvudzi rioneka rakaoma nekuwedzera kwezera. Maziso nemapfumi zvinowanzove zvakacheneruka. Ruvara rwemaziso runogona kubva pachena kwazvo kusvika kune brown uye runogona kuchinja nekuwedzera kwezera. Nealbinism, zvikamu zvine ruvara zvemaziso, zvinonzi irises, kazhinji hazvina pigment yakakwana. Izvi zvinoita kuti chiedza chipenye kuburikidza ne irises uye zvinoita kuti maziso ave anonzwa zvikuru nechiedza chakajeka. Nekuda kweizvi, maziso ane ruvara rakajeka anogona kuoneka akatsvukuruka mune imwe mwenje. Matambudziko ekuona chiratidzo chikuru chemarudzi ese ealbinism. Matambudziko emaziso anogona kusanganisira: Kuenda kumberi nekukurumidza, kuenda kumashure kwemaziso kunogona kusadzora, kunonzi nystagmus. Nzvimbo isingawanzoitika yemusoro kana nzvimbo yemusoro, senge kukotama musoro kuti uedze kuderedza kufamba kwemaziso uye kuona zviri nani. Maziso asingakwanisi kutarisa kwakafanana panguva imwe chete kana achiita sekunge akatambanudzwa, mamiriro anonzi strabismus. Matambudziko ekuona zvinhu zviri pedyo kana zvinhu zviri kure, anonzi farsightedness kana nearsightedness. Kunzwa kwakanyanya nechiedza, kunonzi photophobia. Kupokana mukukotama kwepamusoro pepamusoro pemaziso kana lens iri mukati memaziso, kunonzi astigmatism, iyo inokonzera kuona kusapfava. Kusiyana mukukura kwetete re tissue riri kumashure kwepamusoro pemaziso, rinonzi retina. Uku kusiyana kunoguma nekuona kwakaderera. Zviratidzo zvemitsipa kubva kuretiina kuenda kuuropi izvo zvisingatevere nzira dzemitsipa dzakajairwa mumaziso. Izvi zvinonzi misrouting ye optic nerve. Kuona kwakashata kwakadzama, zvinoreva kusakwanisa kuona zvinhu muzvikamu zvitatu uye kutonga kuti chinhu chiri kure sei. Kurasikirwa kwakakwana kwekuona - kuona kushoma pane 20/200 - kana kurasikirwa kwakakwana kwekuona. Pakuzvarwa kwemwana wako, mushandi wehutano anogona kuona kushayikwa kweruvara mu bvudzi kana ganda rinokanganisa maziso nemapfumi. Mupi achaita bvunzo yemaziso uye achatanga chero shanduko muvara rweganda remwana wako nekuona. Kana iwe ukaona zviratidzo zvealbinism mwana wako, taura nachiremba wako. Taura nachiremba wako kana mwana wako ane albinism akawana ropa rinobuda mumhuno, kuvhunduka nyore kana kuzvimba kwenguva refu. Aya maratidzo anogona kuratidza mamiriro asingawanzoitika asi ane ngozi ehutsika anobatanidza albinism.

'Panguva yokuberekwa kwomwana wenyu, mutariri wehutano angacherechedza kushayikwa kwevara muvumbi kana ganda kunokanganisa eyelashes nemaziso. Mutariri achaita bvunzo yemeso uye achateterera chero shanduko muvara reganda romwana wenyu nekuona kwake.\n\nKana mukaona zviratidzo zvealbinism mwana wenyu, taurai nomutariri wenyu wehutano.\n\nTaura nomutariri wenyu wehutano kana mwana wenyu ane albinism akawana ropa rinobuda mumhuno kazhinji, kuvhunduka nyore kana kunetseka kwenguva refu. Zviratidzo izvi zvinogona kuratidza zvirwere zvisingawanzoitika asi zvakakomba zvinosanganisira albinism.'

Kuti uve nedambudziko rinopfuudzwa kubva kuvabereki vese (autosomal recessive disorder), unofanira kugara wakagara majeni maviri akachinja, dzimwe nguva anonzi mutations. Unowana rimwe kubva kuna baba nemumwe kubva kuna amai. Utano hwavo hahuwanzo kukanganiswa nekuti vane gene rimwe chete rachinja. Vabereki vaviri vane gene iri vane mukana we25% wekuve nevana vasina chirwere ichi vane majeni maviri asina kukanganiswa. Vane mukana we50% wekuve nevana vasina chirwere ichi asi vane gene rimwe rachinja. Vane mukana we25% wekuve nevana vane chirwere ichi vane majeni maviri akachinja.

Majeni akawanda anopa mirairo yekugadzira imwe yemapuroteni akawanda anoshanda pakugadzira melanin. Melanin inogadzirwa nema cell anonzi melanocytes ari muganda rako, bvudzi nemaziso.

Albinism inokonzerwa nekuchinja kwegene rimwe remajeni aya. Marudzi akasiyana ealbinism anogona kuitika, zvichienderana zvikuru nekuchinja kwegene rakakonzera chirwere ichi. Kuchinja kwegene kunogona kukonzera kusava ne melanin kana kudzikira kwakakura kwehuwandu hwe melanin.

Marudzi ealbinism anosanganiswa zvichienderana nekuti anopfuudzwa sei mumhuri uye gene rakabatwa.

• Oculocutaneous albinism (OCA), rudzi runowanzoitika, zvinoreva kuti munhu anowana makopi maviri egene rachinja — rimwe kubva kuna baba nemumwe kubva kuna amai. Izvi zvinonzi autosomal recessive inheritance. OCA inokonzerwa nekuchinja kwegene rimwe remajeni masere, anonzi kubva ku OCA1 kuenda ku OCA8. OCA inokonzera kudzikira kwe pigment muganda, bvudzi nemaziso, pamwe nematambudziko ekusona. Huwandu hwe pigment hunochinja zvichienderana nerudzi. Ruvara rweganda, bvudzi nemaziso zvinochinjawo zvichienderana nerudzi uye mukati merudzi.
• Ocular albinism inonyanya kuitika mumaziso, ichikonzera matambudziko ekusona. Rudzi runowanzoitika rweocular albinism ndirwo rudzi rwe1. Rudzi urwu runopfuudzwa nekuchinja kwegene pa chromosome X. X-linked ocular albinism inogona kupfuudzwa naamai vane gene rimwe rachinja re X kuvana vavo vevarume. Izvi zvinonzi X-linked recessive inheritance. Ocular albinism kazhinji inoitika chete kuvarume. Haisi yakawanda se OCA.
• Albinism ine chekuita nemarudzi asingawanzoitika eh hereditary syndromes inogona kuitika. Semuenzaniso, Hermansky-Pudlak syndrome ine rudzi rwe OCA, pamwe nematambudziko ekubuda ropa uye kuvhunduka, uye zvirwere zvemapapu nemudumbu. Chediak-Higashi syndrome ine rudzi rwe OCA, pamwe nematambudziko ekudzivirira muviri nezvirwere zvinowanzouya, matambudziko emuviri nemitsipa, matambudziko ekubuda ropa, nezvimwe zvinetso zvakakomba.

Zvinokonzera ngozi zvinoenderana nekuti mumwe kana vabereki vese vane gene rakaoma. Marudzi akasiyana-siyana ealbinism ane marudzi akasiyana-siyana emapatani ekuragwa.

Albinism inogona kusanganisira matambudziko eganda nemaziso. Inogona zvakare kusanganisira matambudziko enharaunda nemanzwiro. Matambudziko ekukuona anogona kukanganisa kudzidza, basa uye kugona kutyaira. Vanhu vane albinism vane ganda rinonyanya kunzwa chiedza nezuva. Kuora nezuva chimwe chezvinetso zvakakomba zve albinism. Kuonekwa nezuva kunogona kukonzera kukuvara kwezuva, izvo zvinogona kukonzera ganda rakaoma uye rakapfava. Kuora nezuva kunogona zvakare kuwedzera njodzi yekuwana ganda rekenza. Nekuda kwekushaikwa kwe pigment yeganda, rudzi rweganda rekenza runonzi melanoma runogona kuoneka serukukura rutsvuku kana rwakatsvuka kana mahombe, panzvimbo yeruvara rwakajairwa rwakasviba kana rwebrown. Izvi zvinogona kuita kuti ganda rekenza rive rakaoma kuziva pakutanga. Pasina bvunzo yeganda yakanyatsojeka uye yakajairwa, melanoma ingangoonekwa kusvika yava yakakura. Vamwe vanhu vane albinism vanogona kusangana nekusaruramisirwa. Kuita kwevamwe vanhu kune avo vane albinism kunogona kukanganisa vanhu vane chirwere ichi. Vanhu vane albinism vanogona kusangana nekushungurudzwa, kusekwa kana mibvunzo isingadiwi nezvekutaridzika kwavo, magirazi kana zvishandiso zvekuona. Vanogona kutaridzika zvakasiyana nemihuri yavo kana mapoka avo etsika, saka vanogona kunzwa sevanhu vakasiyana kana kuti vanobatwa sevanhu vakasiyana. Aya mazviitiko anogona kukonzera kusurukirwa kwenharaunda, kuzvidzwa uye kushushikana. Kushandisa izwi rokuti "munhu ane albinism" kunonyanya kufarirwa kudzivirira kukanganisa kwemamwe mazwi.

Kana mumhuri mako muine munhu ane albinism, nyanzvi yekurapa nezvemagene inokwanisa kukubatsirai kunzwisisa rudzi rwealbinism uye mikana yekuti mubereke mwana ane albinism. Nyanzvi yacho inokwanisa kutsanangura bvunzo dzemajini dziripo.

Kuongororwa kwealbinism kunobva pazvinotevera: Kuongororwa kwemuviri kunosanganisira kuongorora ruvara rweganda nebvudzi. Kuongororwa kwakazara kwemaziso. Kuenzanisa ruvara rweganda mwana wako nevamwe vemhuri. Kuongororwa kwezviitiko zvehutano hwemwana wako, kusanganisira kana paive nekuyerera kweropa kusina kumira, kuuruka kwakawanda kana kukuru, kana hutachiona husina kutarisirwa. Nyanzvi yezvirwere zvemaziso inonzi ophthalmologist kazhinji inofanira kuongorora maziso emwana wako. Kuongororwa kunosanganisira kuongororwa uchishandisa zvishandiso kuona retina uye kuona kana paine zviratidzo zvematambudziko ekukura kwemaziso kana kushanda. Kuongororwa kwemajini kunogona kubatsira kuona rudzi rwealbinism uye njodzi yekupfuudza kuchinja kwegene kuvana.

Albinism chirwere chinongogara munzira dzekuzvarwa, uye parizvino hapana mushonga. Kurapa kunonyanya kufunga nezvekutarisirwa kwakanaka kwemaziso nekutarisa ganda kuti pave nematambudziko. Timu yako yekutarisira inogona kusanganisira mutariri wako wehutano, nyanzvi yekutarisira maziso inonzi ophthalmologist uye nyanzvi yekutarisira ganda inonzi dermatologist.

Nyanzvi yezvemagariro inogona kubatsira kuziva rudzi rwakakosha rwealbinism. Ruzivo urwu runogona kubatsira kutungamira kutarisirwa, kuziva matambudziko anogona kuitika uye kuona njodzi yechirwere ichi muvana vekare ramangwana.

Kurapa kazhinji kunosanganisira:

• Kutarisirwa kwemaziso. Izvi zvinosanganisira kuwana bvunzo yemaziso kanenge kamwe chete pagore neophthalmologist. Iwe ungangoda magirazi ekurapa kuti akubatsire nematambudziko ekuona. Kunyange zvazvo kuvhiya kazhinji hakusi chikamu chekurapa nematambudziko emaziso ane chekuita nealbinism, ophthalmologist yako inogona kukurudzira kuvhiya pamhasuru dzemaziso kuderedza nystagmus. Kuvhiya kwekugadzirisa strabismus kunogona kuita kuti mamiriro acho asava pachena.
• Kutarisirwa kwe ganda nekudzivirira kenza yeganda. Izvi zvinosanganisira kuwana bvunzo yeganda kanenge kamwe chete pagore kuti uongorore kenza yeganda kana mabvi anogona kutungamira kukenza. Rudzi rwakasimba rwekenza yeganda rinonzi melanoma rinogona kuoneka semasese kana kukura kwepinki kana tsvuku. Masese kana kukura, ane kana asina ruvara - kunyanya ayo ari pinki kana tsvuku uye anoramba achichinja - anofanira kutarisirwa nenyanzvi yeganda nekukurumidza.

Vanhu vane Hermansky-Pudlak kana Chediak-Higashi syndromes vanowanzoda kutarisirwa kwakakosha nguva dzose zvematambudziko ehutano uye kudzivirira matambudziko.