ʻO nā mea āpau e pili ana iā Choroideremia: kahi maʻi laha ʻole e hoʻoulu ai i ka nalowale mālie o ka ʻike

Ke manaʻo nei hoʻi ʻoe e ʻoi aku ka ʻino o kou ʻike i ka pō? A i ʻole ke emi mālie nei kou ʻike peripheral, ʻo ia hoʻi kou ʻike i nā ʻaoʻao? I kekahi manawa, ʻaʻole mākou e nānā nui i kēia mau mea, akā hiki iā lākou ke lilo i hōʻailona o kahi maʻi koʻikoʻi. I kēia lā e kamaʻilio mākou e pili ana i kahi maʻi kakaikahi, akā he mea nui loa e ʻike, hiki ke nalowale mālie ka ʻike a alakaʻi i ka makapō. Ua kapa ʻia kēia he choroideremia.

He aha kēia choroideremia?

I ka ʻōlelo maʻalahi, he maʻi maka laha ʻole ka Choroideremia, he maʻi maka hoʻoilina i hoʻoili ʻia ma o nā genes. Hoʻopilikia mālie ia i ka ʻike ma nā maka ʻelua, a hiki i ka makapō. Hoʻopilikia pinepine kēia maʻi i nā kāne me ka ʻoi aku ka koʻikoʻi.

Ua lohe paha ʻoe i kekahi maʻi maka ʻē aʻe i kapa ʻia ʻo `(Retinitis Pigmentosa).` Hoʻonāwaliwali mālie hoʻi ia i ka retina. ʻO ka mea kupanaha, hiki ke like nā hōʻailona a me kekahi mau hopena hoʻāʻo o nā maʻi ʻelua, `(Choroideremia)` a me `(Retinitis Pigmentosa). No laila, ʻo ke ala maikaʻi loa e ʻike pono ai i ka mea o kēia mau maʻi ʻelua āu e loaʻa ai, ʻo ia ke kiʻi ʻana i kahi `(hoʻāʻo genetic).`

He aha ka mea e hana ʻia ana i loko o ka maka? Pehea kēia e pili ai i ka ʻike?

Ua like ko kākou mau maka me nā kāmela kupaianaha. I loko o ka maka, aia kahi ʻāpana i kapa ʻia ʻo ka retina . Maanei kahi i loaʻa ai nā pūnaewele kūikawā i kapa ʻia ʻo nā pūnaewele photoreceptor e hiki ke ʻike i ka mālamalama. Lawe kēia mau pūnaewele i ka mālamalama e komo ana i ka maka a hoʻololi iā ia i mau hōʻailona uila. A laila hoʻouna ʻia kēia mau hōʻailona i ka lolo ma ke aʻalolo optic . Hoʻohana ka lolo i kēia mau hōʻailona e hana i nā kiʻi a mākou e ʻike ai.

I kēia manawa, ma hope o kēia retina, ma waena o ka uhi pale keʻokeʻo o waho o ka maka (sclera) a me ka retina, aia kahi papa i kapa ʻia ʻo choroid . ʻO kēia choroid kahi e loaʻa ai i ka retina kāna meaʻai, ʻo ia hoʻi, he mau kīʻaha koko kona e hoʻolako iā ia me ke koko. E noʻonoʻo e like me ka hāʻawi ʻana i ka wai a me ka meaʻai i kahi mea kanu.

I loko o ka choroideremia, ua hōʻino ʻia nā kīʻaha koko i loko o ka choroid. A laila, ʻaʻole lawa ke koko i ka retina, no laila hoʻomaka pū ia e hōʻino ʻia. Hoʻopilikia nui kēia i kā mākou ʻike peripheral .

Pehea ka maʻamau o Choroideremia?

He maʻi laha ʻole kēia. Ma ke ʻano kikoʻī, ua manaʻo ʻia hoʻokahi wale nō i loko o 100,000 a i ʻole hoʻokahi i loko o 50,000 poʻe e loaʻa ana i kēia maʻi . ʻO ke ʻano kēia, ʻoiai ma ko mākou ʻāina, he kakaikahi paha ka poʻe me kēia maʻi.

He aha nā hōʻailona o kēia maʻi? E nānā inā loaʻa iā ʻoe kēia mau mea pū kekahi.

ʻAʻole ʻike koke ʻia nā hōʻailona o ka choroideremia. Hoʻomohala mālie lākou. Eia kekahi o nā hōʻailona nui:

• ʻO ka makapō pō (makapō pō) kekahi o nā hōʻailona mua. I kekahi manawa hiki ke ʻike ʻia kēia hōʻailona i nā keiki ma lalo o 10 mau makahiki. E noʻonoʻo, ʻoiai ma kahi mālamalama ʻole kahi e ʻike maikaʻi ai nā poʻe ʻē aʻe, ʻaʻole hiki i kēia poʻe ke ʻike maikaʻi.
• ʻIke peripheral nāwaliwali. ʻO ia hoʻi, ke nānā pololei ʻoe i mua, ʻaʻole hiki iā ʻoe ke ʻike i nā mea ma nā ʻaoʻao. Hiki ke manaʻo ʻia e like me ʻoe e nānā ana ma o kahi tunnel.
• Ka emi ʻana o ka ʻike maka. Ka emi ʻana o ka hiki ke ʻike maopopo a ʻoi aku ka wikiwiki. He mea paʻakikī paha ke heluhelu i nā leka a me ka hoʻokaʻawale ʻana i nā mea mamao.
• ʻAʻole hiki ke ʻike pono i nā kala. Hiki ke loli ke ʻano o ke ʻano o nā kala. Hiki ke paʻakikī ke ʻike i kekahi mau kala.
• Mālie, nalowale loa ka ʻike ʻaoʻao, e alakaʻi ana i ka makapō. I ka wā mua, ua emi ka ʻike ʻaoʻao, i ka hala ʻana o ka manawa ʻo ka ʻike waena wale nō ke koe, a ʻo ka hope loa, nalowale paha ka ʻike piha.

He mea nui: Inā loaʻa iā ʻoe kekahi a ʻoi aku paha o kēia mau hōʻailona, ​​​​mai manaʻo he choroideremia ia. Eia nō naʻe, he mea nui loa ia e ʻike koke i kahi kauka maka no ka hoʻokolokolo ʻana.

No ke aha e kū mai ai ʻo Choroideremia? He mea hoʻoilina anei ia?

ʻAe, e like me kā mākou i ʻōlelo ai ma mua, he maʻi hoʻoilina ʻo Choroideremia. I ka pololei, he maʻi hoʻoilina i hoʻopili ʻia me X.

Loaʻa iā kākou a pau nā mea i kapa ʻia he chromosomes i loko o ko kākou mau pūnaewele. Aia i loko o kēia mau chromosomes ko kākou mau genes. Loaʻa i nā wahine ʻelua X chromosomes (XX). Loaʻa i nā kāne hoʻokahi X chromosome a hoʻokahi Y chromosome (XY).

Aia ka gene kīnā i ke kumu o ka choroideremia ma ka chromosome X.

I kēia manawa, inā loaʻa i ka wahine hoʻokahi chromosome X me kēia gene kīnā, inā olakino ka chromosome X ʻē aʻe, ʻaʻole paha ia e loaʻa ka hopena nui. No laila, ʻo nā wahine me kēia gene kīnā ('mea lawe') ʻaʻole lākou e ʻeha nui i ka choroideremia e like me nā kāne. Eia nō naʻe, hiki iā lākou ke hoʻomohala i nā hōʻailona e like me ka makapō pō i ko lākou wā ʻelemakule. Eia nō naʻe, he mea kakaikahi loa ka makapō piha.

Eia nō naʻe, hoʻokahi wale nō chromosome X a nā kāne. No laila, inā loaʻa iā lākou kēia gene kīnā ma kēlā chromosome X, ʻoi aku ka nui o ka loaʻa ʻana o ka choroideremia.

Hoʻoili ke kāne me kēia maʻi i kāna chromosome X hemahema i kāna mau kaikamahine . A laila lilo kēlā mau kaikamahine i mea lawe i ka maʻi. Loaʻa i kēlā mau kaikamahine mea lawe he 50% (hoʻokahi i loko o ʻelua) ka manawa kūpono e hoʻoili i ka chromosome X hemahema i kā lākou mau keiki.

Pehea e ʻike ʻia ai ka Choroideremia? He aha nā hoʻokolohua e hana ʻia?

Inā loaʻa iā ʻoe kekahi o nā hōʻailona i ʻōlelo ʻia ma luna, pono ʻoe e ʻike i kahi kauka maka. E nānā pono ʻo ia i kou mau maka. Ma waho aʻe o ka hoʻokolokolo maka maʻamau, e noi ʻia paha ʻoe e hana i kekahi mau hoʻokolohua kūikawā, e like me:

• ʻO ka Electroretinogram (ERG): Ke ana kēia hoʻāʻo i ke ʻano o ka pane ʻana o kou retina i ka mālamalama. ʻOiai he ʻano paʻakikī paha ia, ʻaʻole ia he ʻeha loa. Hoʻokomo ʻia nā electrodes liʻiliʻi ma kou maka, a puni kou mau maka, a ma kou poʻo. A laila, ua kau ʻia kahi uea lahilahi loa (he lens paha) i loko o kou maka, ma luna pono o kou lihilihi haʻahaʻa. A laila ua hoʻopōʻeleʻele ʻia ka lumi a ua hoʻomālamalama ʻia nā kukui like ʻole i loko o kou mau maka e ʻike i ke ʻano o ka hana ʻana o nā cell i loko o kou retina. Hiki i kēia ke hāʻawi i ka ʻike waiwai e pili ana i ka hana ʻana o kāu retina.
• ʻO ka Optical Coherence Tomography (OCT): He hoʻāʻo ʻeha ʻole kēia, ʻaʻole invasive. Ua like ia me ke scan o loko o kou maka. Hoʻohana ia i nā kukuna kukui kūikawā e lawe i nā kiʻi cross-sectional o loko o kou maka, ʻoiai ka retina a me ka choroid. Hiki i kēia ke hōʻike maopopo i ka mānoanoa o kēia mau papa a me nā pōʻino a lākou i hana ai.
• ʻO ka Fluorescein Angiography: Ma kēia hoʻokolohua, ua hoʻokomo ʻia kahi waihoʻoluʻu kūikawā i loko o kahi aa koko i loko o kou lima. I ka hele ʻana o ka waihoʻoluʻu ma o nā kīʻaha koko i loko o kou maka, lawe kahi kāmela kūikawā i nā kiʻi o loko o kou maka. Hiki i kēia ke kōkua i ka ʻike ʻana i ke kūlana o nā kīʻaha koko i loko o ka choroid a me ka retina, e like me ka hōʻino ʻia a i ʻole ke kahe ʻana o ke koko.
• Hoʻāʻo ʻana i ka genetics: ʻO kēia ke ala hilinaʻi loa e hoʻokaʻawale ai ma waena o Choroideremia a me nā maʻi ʻē aʻe me nā hōʻailona like, e like me Retinitis Pigmentosa. Pili kēia i ka lawe ʻana i kahi laʻana o kou koko, lauoho, ʻili, ʻiʻo, a i ʻole kekahi wai amniotic mai kāu pēpē i loko o ka ʻōpū, a me ka hoʻāʻo ʻana i nā genes i loko. Hiki i kēia ke kōkua i ka hoʻoholo ʻana inā he mutation kou i loko o ka gene e hoʻoulu ai iā Choroideremia.

Aia kekahi lāʻau lapaʻau no Choroideremia?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka choroideremia. Hiki i kēia ke hoʻomāʻeha iā ʻoe, akā he mea maʻamau kēlā.

Eia naʻe, ʻaʻole ia manaʻo ʻaʻole hiki iā mākou ke hana i kekahi mea. ʻOiai ʻaʻole hiki ke ho'ōla ʻia ka maʻi, hiki iā mākou ke mālama i nā pilikia ʻē aʻe i hoʻokumu ʻia e ka maʻi. Eia kekahi laʻana:

• Nā hoʻolālā ʻike haʻahaʻa: I ka emi mālie ʻana o ka ʻike, aia nā mea hana like ʻole e hiki ke kōkua i nā hana o kēlā me kēia lā. ʻO nā laʻana e komo pū me nā aniani hoʻonui, nā mea kukui kūikawā, a me nā uaki kamaʻilio.
• ʻŌlelo aʻoaʻo no ke olakino noʻonoʻo:Hiki i ka noho ʻana me ia ʻano maʻi hiki ʻole ke hoʻōla ʻia ke paʻakikī i ka noʻonoʻo, no laila he mea nui loa ka ʻimi ʻana i ke kōkua mai ke kauka noʻonoʻo a i ʻole ke kākāʻōlelo.
• ʻŌlelo aʻoaʻo hoʻoilina: ʻOiai he maʻi hoʻoilina kēia, he mea pono loa ke aʻoaʻo hoʻoilina no ka hoʻomaopopo ʻana i nā lālā ʻē aʻe o ka ʻohana i kēia a e hoʻomaopopo pehea e pili ai i nā hanauna e hiki mai ana.

He aha ke ʻano o ka wā e hiki mai ana o kekahi me Choroideremia?

ʻO ka maʻamau, e nalowale ka ʻike peripheral o ke kanaka me ka choroideremia i ka hala ʻana o ka manawa. I ka hopena, ʻo ka ʻike waena wale nō paha e koe. Ma hope o kēlā, hiki i kekahi poʻe ke lilo i makapō loa. Hiki ke ʻokoʻa kēia mai kēlā kanaka a i kēia kanaka. Ua nalowale kekahi poʻe i ko lākou ʻike i ka hala ʻana o ka manawa, aʻo kekahi poʻe e nalowale ana i ka hala ʻana o ka manawa.

Mai hoʻonāwaliwali ʻia e kēia. Ke holomua nei ka ʻepekema lapaʻau i kēlā me kēia lā. Ke ʻimi mau ʻia nei nā noiʻi hou a me nā lāʻau lapaʻau hou.

Pehea wau e mālama ai iaʻu iho?

ʻOiai inā ua ʻike ʻia ʻoe me ka choroideremia, aia kekahi mau mea hiki iā ʻoe ke hana e mālama pono iā ʻoe iho. He mea nui loa ka mālama ʻana i kahi nohona olakino, ʻoiai me kēia maʻi.

• E ʻai i ka meaʻai momona maikaʻi. E ʻai i nā mea kanu ʻōmaʻomaʻo, nā huaʻai, a me nā ʻiʻo wīwī. E hōʻemi i ka paʻakai nui, ke kō, a me nā momona maikaʻi ʻole i ka hiki.
• E hoʻoikaika kino i ka hana kino. ʻOiai he mea maʻalahi e like me ka hele wāwae i kēlā me kēia lā, he mea maikaʻi ia.
• Inā ʻoe e puhipaka, e hoʻōki. ʻAʻole wale ka puhipaka no kou mau maka, akā no kou kino holoʻokoʻa.
• E ʻike pinepine i kāu kauka maka e nānā i kou mau maka. Ma kēlā ala, hiki iā ʻoe ke aʻo e pili ana i ke kūlana o kou maʻi a me nā lāʻau lapaʻau hou.
• E hiamoe pono.

Āhea wau e ʻike ai i ke kauka?

Inā ʻike ʻoe i kekahi mau loli i kou ʻike, e like me ka emi ʻana o ka ʻike pō, ka emi ʻana o ka ʻike peripheral, a i ʻole ka ʻike pohihihi, e ʻike koke i ke kauka. ʻOi loa aku inā loaʻa iā ʻoe nā loli koke i ka ʻike a i ʻole ka ʻeha o ka maka, he pilikia olakino paha kēia.

Eia kekahi, inā paʻakikī iā ʻoe ke hana i kāu mau hana o kēlā me kēia lā, e kamaʻilio pū me kāu kauka e pili ana i kēlā. He manaʻo maikaʻi paha ke nīnau inā kūpono ʻoe e komo i nā mea e like me nā hoʻokolohua hoʻōla gene .

He aha ka ʻokoʻa ma waena o Choroideremia a me Gyrate Atrophy o Choroid a me Retina?

He mau maʻi hoʻoilina kēia mau maʻi ʻelua. Ua like paha nā hōʻailona. Eia nō naʻe, aia nā ʻokoʻa maopopo ma waena o nā mea ʻelua.

• ʻAno hoʻoilina: He maʻi X-linked ʻo Choroideremia. ʻO ia hoʻi, ua hoʻoilina ʻia ma o ka chromosome X. ʻO ka Gyrate Atrophy o ka Choroid a me Retina he maʻi autosomal recessive . ʻO ia hoʻi, i mea e loaʻa ai ka maʻi, pono i ke keiki ke hoʻoilina i ka gene kīnā mai ka makuahine a me ka makuakāne.
• Gene i hoʻololi ʻia: He ʻokoʻa nō hoʻi ka hoʻololi ʻana o ka gene e hoʻoulu ai i nā maʻi ʻelua.

ʻO nā mea nui loa e pono ai kākou e aʻo mai kēia (Leka Lawe-Home)

He ʻoiaʻiʻo he maʻi laha ʻole ka choroideremia, hiki ʻole ke hoʻōla ʻia e hiki ke alakaʻi mālie i ka nalowale o ka ʻike a me ka makapō. He mea maʻamau ka loaʻa ʻana o nā manaʻo huikau ke ʻike ʻoe he maʻi kou.

Akā e hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi. E mālama i kahi pilina ikaika me kāu hui lapaʻau. Aia lākou ma laila e kākoʻo iā ʻoe. Ke hoʻomau nei ka noiʻi e ʻimi i nā lāʻau lapaʻau a me nā lāʻau lapaʻau no ka choroideremia, a me nā maʻi genetic ʻē aʻe. A aia nā kumuwaiwai a me nā lawelawe e hiki ke kōkua iā ʻoe me kāu mau pono. ʻO ka ʻae ʻana i ke kōkua o haʻi e hiki ke maʻalahi iki i kou ola.

E loaʻa mau ka manaʻolana. Me ka holomua o ka ʻepekema lapaʻau, e puka mai ana paha nā lāʻau lapaʻau hou i ka wā e hiki mai ana.

ʻO Choroideremia, maʻi maka, nalowale o ka ʻike, maʻi hoʻoilina, makapō pō, retina, choroid, X-linked, hoʻāʻo hoʻoilina, makapō