Albinism

Ko te kupu irawera te nuinga o te wā e tohu ana ki te irawera oculocutaneous (ok-u-low-ku-TAY-nee-us) (OCA). Ko te OCA he rōpū mate ka tukuna i roto i ngā whānau, kāore rānei te tinana e hanga i tetahi mea e kiia nei ko te melanin. Ko te momo me te nui o te melanin kei roto i tō tinana e whakatau ana i te tae o tō kiri, tō makawe me tō kanohi. Kei te mahi hoki te melanin i te whanaketanga me te mahi o ngā kanohi, no reira he raruraru tirohanga ngā tāngata e pangia ana e te irawera.

E kitea ana ngā tohu o te irawera i te kiri, te makawe me te tae o te kanohi o te tangata, engari i etahi wā he iti ngā rerekētanga. He mārō hoki ngā tāngata e pangia ana e te irawera ki ngā pānga o te rā, no reira he nui ake te tūponotanga o te mate pūngāwerewere kiri.

Ahakoa kāore he rongoā mō te irawera, ka taea e ngā tāngata e pangia ana e te mate te mahi i ētahi mahi hei tiaki i ō rātou kiri me ō rātou kanohi, me te whiwhi i te tiaki kanohi me te kiri tika.

Ko ngā tohu o te albinism e pā ana ki te tae o te kiri, te makawe, me te kanohi, me te tirohanga. Ko te ahua ngāwari o te albinism hei kite i ngā hua ko te makawe ma, me te kiri mārama rawa atu i te hunga teina, te whānau rānei. Engari ko te tae o te kiri, e kiia ana hoki ko te pigmentation, me te tae o te makawe ka rereke mai i te ma ki te parauri. Ko ngā tāngata o te iwi Āwherika he albinism pea kei a rātou he kiri parauri mārama, he parauri whero rānei, ā, kei a rātou ngā whetu. Ki ētahi tāngata, pea ka tata te tae o te kiri ki te mātua, ki te teina rānei kāhore he albinism. Mā te whakamahana ki te rā, pea ka whānau ētahi tāngata: Ngā whetu. Ngā taera, ahakoa he tae, he whero pea ētahi wā. Ngā pūngāwerewere nui, e kiia ana ko ngā solar lentigines (len-TIJ-ih-neez). Te tahunga o te rā, kāhore hoki te kaha ki te whakatanu. Ki ētahi tāngata he albinism, kāhore rawa e huri te tae o te kiri. Ki ētahi atu, pea ka tīmata te whakaputa melanin, ka piki rānei i ngā tau tamariki me ngā tau taiohi, ka puta mai ai ngā huringa iti i te tae. Ka rereke te tae o te makawe mai i te ma rawa atu ki te parauri. Ko ngā tāngata o te iwi Āwherika, Āhia rānei he albinism pea kei a rātou he tae makawe he kowhai, he whero, he parauri rānei. Pea ka pouri te tae o te makawe i mua o te pakeketanga. Ā, pea ka poke te makawe i te pā ki ngā kohuke i roto i te wai me te taiao, ka puta mai ai te makawe pouri ake i te pakeketanga. Ko ngā makawe o te kanohi me ngā kauae he mārama tonu. Ka rereke te tae o te kanohi mai i te kikorangi mārama rawa atu ki te parauri, ā, pea ka huri i te pakeketanga. Mā te albinism, ko ngā wāhanga tae o ngā kanohi, e kiia ana ko ngā irises, kāhore he pigment nui. Ka taea ai e te mārama te whiti i ngā irises, ka meinga ai ngā kanohi kia tino mārō ki te mārama mārama. Nō reira, pea ka puta te whero o ngā kanohi mārama rawa atu i ētahi wā. Ko ngā raruraru tirohanga he āhuatanga matua o ngā momo albinism katoa. Ko ngā raruraru o te kanohi pea ko: Te nekehanga tere, haere mai, o ngā kanohi kāhore e taea te whakahaere, e kiia ana ko te nystagmus. Te tū o te matenga, te tū o te matenga rānei, pēnei i te whakatarewatanga o te matenga kia ngāwari ai te nekehanga o te kanohi me te kite pai ake. Ngā kanohi kāhore e taea te titiro ki tetahi aronga kotahi i te wā kotahi, kāore rānei e puta mai ana i te taha, he āhuatanga e kiia ana ko te strabismus. Ngā raruraru ki te kite i ngā mea tata, i ngā mea tawhiti rānei, e kiia ana ko te farsightedness, te nearsightedness rānei. Te tino mārō ki te mārama, e kiia ana ko te photophobia. Te rerekētanga i te kōwhiti o te mata o mua o te kanohi, te karaihe rānei i roto i te kanohi, e kiia ana ko te astigmatism, e puta ai te tirohanga māreikore. Ngā rerekētanga i te whanaketanga o te paparanga angiangi o te kiko i te taha o muri o te kanohi, e kiia ana ko te retina. Ko tēnei rerekētanga ka puta mai ai te tirohanga iti. Ngā tohu mai i te retina ki te roro kāhore e whai i ngā ara nerve noa i te kanohi. E kiia ana tēnei ko te misrouting o te nerve optic. Te tirohanga hohonu kino, ā, ko te tikanga kāhore e taea te kite i ngā mea i roto i ngā āhuatanga toru, me te whakatau i te tawhiti o te mea. Te matapo ture—te tirohanga iti iho i te 20/200—te matapo katoa rānei. I te whānautanga o tō tamaiti, pea ka kite te kaiwhakarato hauora i te kore o te tae i te makawe, i te kiri rānei e pā ana ki ngā makawe o te kanohi me ngā kauae. Pea ka tono te kaiwhakarato i te whakamātautau kanohi, ā, ka whai tata ki ngā huringa i te tae o te kiri o tō tamaiti me te tirohanga. Ki te kite koe i ngā tohu o te albinism i roto i tō pepe, kōrero atu ki tō kaiwhakarato hauora. Whakapa atu ki tō kaiwhakarato hauora ki te pāngia tō tamaiti he albinism e ngā totohu ihu maha, te ngāwari ki te whē, te mate roa rānei. Pea ka whakaatu ēnei tohu i ngā āhuatanga tuku iwi onge engari kino e whai ana i te albinism.

I te whānautanga o tō tamaiti, ka taea pea e te kaiwhakarato hauora te kite i te kore o te tae i te makawe, i te kiri rānei e pā ana ki ngā huruhuru o ngā karu me ngā kauae. Ka tino tono pea te kaiwhakarato i tetahi whakamātau karu, ā, ka whai tika i ngā huringa o te tae kiri o tō tamaiti me te tirohanga.

Ki te kite koe i ngā tohu o te albinism i roto i tō pēpi, kōrero atu ki tō kaiwhakarato hauora.

Whakapa atu ki tō kaiwhakarato hauora ki te pāngia tō tamaiti e te albinism i ngā ngutu ihu maha, te ngawari o te whākū, te mate roa rānei. Ka taea pea e ēnei tohu te tohu i ngā āhuatanga tuku iwi onge engari kino e whai ana i te albinism.

Hei te whai i te mate pūngāwerewere autosomal, ka whiwhi koe i ngā ira kua huri rua, ka karangatia pea ko ngā mutation. Ka whiwhi koe i tētahi mai i ia mātua. Ko te hauora o rāua e tino pāngia ana, no te mea he ira kotahi anake te huri. E 25% te tūponotanga o ngā kaiwawao rua ki te whai tamariki kore pānga me ngā ira kore pānga rua. E 50% te tūponotanga o rāua ki te whai tamariki kore pānga nō reira he kaiwawao hoki. E 25% te tūponotanga o rāua ki te whai tamariki pānga me ngā ira kua huri rua.

He maha ngā ira e homai ana ngā tohutohu mō te hanga i tētahi o ngā pūmua maha e uru ana ki te whakaputa melanin. Ka hangaia te melanin e ngā pūtau e karangatia ana ko ngā melanocytes kei roto i tō kiri, makawe me ngā kanohi.

Ko te albinism te take o te huringa o tētahi o ēnei ira. Ka taea te puta mai o ngā momo albinism rerekē, e whakaū ana i te huringa ira i puta ai te mate. Ka taea e te huringa ira te puta mai i te kore melanin rānei i te heke nui o te nui o te melanin.

Ka whakarōpūhia ngā momo albinism i runga i te āhua o te tuku iho ki ngā whānau me te ira e pā ana.

• Te albinism oculocutaneous (OCA), te momo tino noa, ko te tikanga ka whiwhi te tangata i ngā kape rua o te ira kua huri – tētahi mai i ia mātua. Ka karangatia tēnei ko te whakawhiwhi autosomal recessive. Ko te OCA te hua o te huringa o tētahi o ngā ira waru, e tohuhia ana mai i te OCA1 ki te OCA8. Ka puta mai te OCA i te heke o te tae i te kiri, makawe me ngā kanohi, me ngā raruraru tirohanga. Ka rerekē te nui o te tae i runga i te momo. Ka rerekē hoki te tae o te kiri, makawe me ngā kanohi i runga i me i roto i ngā momo.
• Te albinism ocular e āhei ana ki ngā kanohi, e puta ai ngā raruraru tirohanga. Ko te momo tino noa o te albinism ocular ko te momo 1. Ka tukuna iho tēnei momo e te huringa ira i runga i te chromosome X. Ka taea te tuku iho te albinism ocular X-linked e te whaea e mau ana i tētahi ira X kua huri ki tana tama. Ka karangatia tēnei ko te whakawhiwhi recessive X-linked. Ko te albinism ocular te nuinga o te wā ka puta anake ki ngā tane. He iti rawa te noa atu i te OCA.
• Ka taea te puta mai te albinism e pā ana ki ngā mate pūngāwerewere tuku iho onge. Hei tauira, ko te mate pūngāwerewere Hermansky-Pudlak kei roto tētahi momo OCA, me ngā raruraru toto me te whākū, me ngā mate pūkahukahu me ngā mate puku. Kei roto i te mate pūngāwerewere Chediak-Higashi tētahi momo OCA, me ngā raruraru ārai mate me ngā mate hopu, me ngā raruraru o te roro me ngā io, me ngā mate toto, me ētahi atu take kino.

Ko ngā take tūpono e whakahaeretia ana e te mea kei te kawe tētahi mātua, tētahi rānei o ngā mātua i tētahi ira pāngia. He rerekē ngā momo o te albinism, he rerekē hoki ngā tauira o te whakatūturutanga.

Ka uru pea te albinism ki ngā raruraru o te kiri me ngā kanohi. Ka uru pea hoki ki ngā wero whānau me ngā wero hinengaro.

Ka pā te raruraru o te tirohanga ki te ako, ki te mahi, me te kaha ki te taraiwa.

He tino mārō te kiri o te hunga albinism ki te mārama me te rā. Ko te tahunga rā tētahi o ngā raruraru tino nui o te albinism. Ka taea e te whakamārama rā te whakarahi i te kino o te kiri, ā, ka puta mai pea he kiri kōkī me te mātotoru. Ka taea hoki e te tahunga rā te whakapiki ake i te tūponotanga o te whanaketanga o te mate pūngāwerewere.

Nō te kore o te tae o te kiri, ka puta pea tētahi momo mate pūngāwerewere e kiia nei ko te melanoma hei tipu pango, whero rānei, kāinga rānei, kāore i te tae pango, parauri rānei. Ka taea e tēnei te whakahirahira i te kite i te mate pūngāwerewere i te wā tīmata. Ki te kore e tirotirohia te kiri mā te atawhai me te tōtika, ka kore pea e kitea te melanoma kia tae rawa atu.

Ka raru pea etahi o te hunga albinism i te whakahekenga. Ka pā te pānga o ētahi atu tangata ki te hunga albinism ki te hunga e pangia ana e te āhuatanga.

Ka raru pea te hunga albinism i te tukino, i te whakakā, i ngā pātai e kore e hiahiatia mō tō rātou āhua, anō, me ngā taputapu tautoko tirohanga. Ka rerekē pea tō rātou ahua mai i ngā mema o ō rātou whānau ake, i ngā rōpū iwi rānei, na reira ka rongo pea rātou he tangata ke, he tangata ke rānei. Ka puta pea ēnei wheako i te motu whānau, i te iti o te whakaaro nui ki a rātou anō, me te ahotea.

Ko te whakamahinga o te kupu 'tangata albinism' te mea pai hei karo i te pānga kino o ētahi atu kupu.

Mēnā he mema o te whānau kei a ia te albinism, ka taea e te kaitohutohu ira te āwhina i a koe ki te mārama ki te momo albinism me ngā tūponotanga o te whānau tamaiti i muri mai me te albinism. Ka taea e te kaitohutohu te whakamārama i ngā whakamātautau ira kei te wātea.

Ko te taatai ​​mo te albinism e ahu mai ana i: Te whakamatautau tinana tae atu ki te tirotiro i te kiri me te tae o te makawe. He whakamatautau kanohi tino tika. Te whakarite i te kiri o to tamaiti ki era o etahi atu mema o te whānau. Te arotake i te hītori hauora o to tamaiti, tae atu ki te mea kua puta he toto kaore e mutu, he maha, he nui ranei nga pupuhi, he mate ranei kaore i te manakohia. Ko te tohunga mo nga mate o te tirohanga me nga kanohi e kiia nei he ophthalmologist te tikanga me mahi i te whakamatautau kanohi a to tamaiti. Ko te whakamatautau kei roto he aromatawai ma te whakamahi i nga taputapu hei titiro ki te retina me te whakatau mena kei reira nga tohu o nga raruraru mo te whanaketanga o te kanohi, te mahi ranei. Ka taea e te whakamatautau ira te awhina i te whakatau i te momo albinism me te morearea o te tuku i te huringa o te ira ki nga tamariki.

Ko te albinism he mate pūngāwerewere, ā, kāore he rongoā kei te wā nei. Ko te ārai e arotahi ana ki te whiwhi i te tiaki kanohi tika me te tirotiro i te kiri mō ngā raruraru. Ko tō rōpū tiaki pea ko tō kaiwhakarato tiaki matua, he tohunga i te tiaki kanohi e kiia nei he ophthalmologist, me te tohunga i te tiaki kiri e kiia nei he dermatologist.

Ka taea e te tohunga i roto i te pūngāwerewere te awhina i te tautuhi i te momo albinism motuhake. Ka taea e ēnei mōhiohio te aratohu i te tiaki, te tautuhi i ngā raruraru pea, me te whakatau i te tūponotanga o te āhuatanga ki ngā tamariki kei te heke mai.

Ko te ārai e whakauru ana i te nuinga:

• Te tiaki kanohi. Kei roto i ēnei te whiwhi i te whakamātau kanohi ia tau i te iti rawa e te ophthalmologist. Ka hiahia pea koe ki ngā karāhe rongoā hei awhina i ngā raruraru tirohanga. Ahakoa he iti te taero hei wāhanga o te ārai mō ngā raruraru kanohi e pā ana ki te albinism, ka taea e tō ophthalmologist te tūtohutia te taero i runga i ngā uaua kanohi hei whakaiti i te nystagmus. Ka taea e te taero hei whakatika i te strabismus te whakaiti i te kitea o te āhuatanga.
• Te tiaki kiri me te aukati i te mate pūngāwerewere kiri. Kei roto i ēnei te whiwhi i te whakamātau kiri ia tau i te iti rawa hei tirotiro i te mate pūngāwerewere kiri, i ngā tohu rānei e taea te arahi ki te mate pūngāwerewere. Ka taea e te ahua kaha o te mate pūngāwerewere kiri e kiia nei ko te melanoma te puta mai hei whekū whero, whero ranei, i ngā tipu rānei. Me tirotirohia e te tohunga kiri tonu ngā whekū, ngā tipu rānei, ahakoa he tae, he kore rānei—inā ko ngā mea whero, whero rānei e mau tonu ana te hurihuri.

Ko te hunga he mate Hermansky-Pudlak, he Chediak-Higashi rānei, e hiahia ana i te nuinga ki te tiaki motuhake ia rā mō ngā raruraru hauora me te aukati i ngā raruraru.

Te whakawhiti i ngā mahi kura, i ngā mahi rānei Ki te pēpihi te tamaiti, tīmata wawe ki te mahi tahi me ngā kaiako me ngā rangatira kura hei kimi huarahi hei āwhina i tō tamaiti ki te whakawhāiti ki te ako rūma. Ki te hiahiatia, tīmatahia mā te whakamārama i ngā kaimahi kura mō te albinism me te āhua o te pānga ki tō tamaiti. Pātai he aha ngā ratonga e tukuna ana e te kura hei aromatawai me te whakatutuki i ngā hiahia. Ngā whakawhitiwhitinga ki te rūma ako ka āwhina pea: He nohoanga tata ki mua o te rūma ako. Ngā pukapuka whakaako nui-pūāhua, he rorohiko papa rānei. He rorohiko papa ka taea te hono atu ki te papa whakaatu pāmahana i mua o te rūma, ki te hiahia tō tamaiti ki te noho tawhiti atu i muri o te rūma ako. Ngā tuhinga o ngā kōrero i tuhituhia ki ngā papa, ki ngā mata whakaatu rānei. Ngā tuhinga ta i teitei-whakapae, pēnei i te momo pango i runga i te pepa ma, kaua e whakamahi i te ta, i te pepa tae rānei. Te whakanui ake i te rahi o te tuhinga i runga i te mata rorohiko. Te karo i te mārama kanapa. Te tuku i te wā atu mō te tango whakamātautau, te pānui tuhinga rānei. He maha o ēnei whakawhitiwhitinga ano ka taea te mahi i roto i te āhuatanga mahi. Whakaarohia te whakamārama i ngā kaiwhakahaere me ngā hoa mahi i te wāhi mahi hei āwhina i a rātou ki te mārama ki ētahi hiahia. Te whakahaere i ngā take hinengaro me te pāpori Āwhina i tō tamaiti ki te whakawhanake i ngā pūkenga hei whakahaere i ngā whakautu a ētahi atu ki te albinism. Hei tauira: Whakatenatena tō tamaiti ki te kōrero ki a koe mō ngā wheako me ngā ngākau. Whakamahia ngā whakautu ki te whakahi i ngā pātai whakama. Kimihia he rōpū tautoko hoa, he hapori ipurangi rānei mā ngā umanga pēnei i te National Organization for Albinism and Hypopigmentation (NOAH). Kōrero ki tetahi tohunga hauora hinengaro ka taea te āwhina i a koe me tō tamaiti ki te whakawhanake i ngā pūkenga kōrero hauora me te whakahaere, ki te hiahiatia. Na te kaimahi o te Kura Hauora o Mayo