Loaʻa i nā lihilihi o kāu pēpē kēia ʻano loli? E aʻo kākou e pili ana i (Blepharophimosis Syndrome)!

I kekahi manawa ua ʻike paha ʻoe ua kau ʻia nā lihilihi o nā pēpē liʻiliʻi ma ke ʻano ʻē. Malia paha he liʻiliʻi ka wehe ʻana o nā maka, a i ʻole e like me ke kūlou ʻana o nā lihilihi. ʻO ka ʻike ʻana i kahi mea e like me kēia e hiki ai iā ʻoe ke hopohopo iki ma ke ʻano he makuahine. I ia mau manawa, he mea nui loa ka makaʻala i kēia kūlana a mākou e kamaʻilio nei, ʻo ia hoʻi, ka Blepharophimosis Syndrome.

He aha ka Blepharophimosis Syndrome? I ka pōkole...

He ʻano hoʻoilina kēia e hoʻopilikia ai i ke ʻano o ka hana ʻana o kou mau lihilihi maka. E noʻonoʻo, ʻo ko kākou mau lihilihi maka ka ʻāpana koʻikoʻi loa e pale ai i ka maka. No laila, ʻoi aku ka haiki o ka wehe ʻana o nā maka o ke kanaka me kēia maʻi, ʻo ia hoʻi, ka hakahaka ma waena o nā maka, ma mua o ke kanaka maʻamau. Eia kekahi, ua like ka lihilihi maka o luna me nā lihilihi maka e hāʻule ana . ʻO kekahi mea ʻē aʻe, ma loko o ka maka, ʻo ia hoʻi, ma ka ʻaoʻao ihu, hiki iā ʻoe ke ʻike i kahi pelu liʻiliʻi o ka ʻili mai ka lihilihi maka o lalo a i ka lihilihi maka o luna.

ʻO ke kumu o kēia, he loli i loko o ka gene i kapa ʻia ʻo 'FOXL2', a i ʻole e like me ka kapa ʻana a nā kauka , he mutation . ʻO kekahi mea nui, hiki ke hoʻopilikia ʻia nā ovaries o nā wahine me kēia 'Blepharophimosis Syndrome'.

Aia kekahi inoa lōʻihi a nā kauka e hoʻohana ai no kēia, ʻo ia hoʻi ʻo 'Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome'. Ua kapa ʻia hoʻi ʻo 'BPES' no ka pōkole. Hiki i kekahi ke kapa aku iā ia he "small eye opening syndrome ." He maʻi hānau kēia, ʻo ia hoʻi, hiki i ka pēpē ke ʻike i kēia mau hōʻailona i ka wā hānau.

Ua puana ʻia ka huaʻōlelo "blepharophimosis" ʻo "bleph-a-ro-phi-mo-sis." He paʻakikī iki ke kani ʻana, ʻeā? Akā, ʻaʻohe pilikia, e ʻōlelo wale kākou ʻo `BPES` no ka maʻalahi.

Aia kekahi mau ʻano o kēia? (Nā ʻano BPES)

ʻAe, ʻelua ʻano nui o kēia mau `BPES`. ʻO lākou ke ʻano I a me ke ʻano II .

Aia kekahi mau ʻano maʻamau o nā ʻano ʻelua:

• Nā puka maka i liʻiliʻi ma mua o ka maʻamau (blepharophimosis) .
• Nā lihilihi maka e hāʻule ana (ptosis) .
• Nā maka i hoʻokaʻawale ʻia ma kahi ʻē aʻe ma mua o ka maʻamau (telecanthus) .
• He pelu ʻili e pelu ana i luna ma ka ʻaoʻao o loko o ka lihilihi lalo, ʻo ia hoʻi, i ka ihu (epicanthus inversus) .

I kēia manawa, e nānā kākou i nā ʻokoʻa kikoʻī ma waena o kēia mau ʻano ʻelua.

ʻAno BPES I

Inā loaʻa iā ʻoe ka BPES ʻano I, hiki iā ia ke hana i kahi kūlana i kapa ʻia ʻo Primary Ovarian Insufficiency (POI) . Kapa pū kekahi poʻe i kēia ʻo "premature ovarian failure." I ka ʻōlelo maʻalahi, ʻo ia ka wā e pau ai ka hana ʻana o nā ovaries o ka wahine ma mua o ka manawa i manaʻo ʻia.

ʻAno BPES II (ʻAno BPES II)

Akā inā loaʻa iā ʻoe ka BPES ʻano II, ʻaʻole ia e hoʻoulu i nā pilikia ʻōnaehana ʻē aʻe i loko o kou kino, ʻo ia hoʻi nā pilikia nui ʻē aʻe e hoʻopilikia i ke kino holoʻokoʻa. ʻO nā hōʻailona wale nō i ʻike nui ʻia ʻo ia nā mea e pili ana i nā maka.

Pehea ka maʻamau o ka maʻi blepharophimosis?

Ma ka honua holoʻokoʻa, ʻike ʻia kēia 'Blepharophimosis Syndrome' ma kahi o 1 i loko o 50,000 mau hānau ʻana . ʻO ke ʻano kēia he maʻi kakaikahi iki.

He aha nā hōʻailona a me nā ʻōuli o ka maʻi blepharophimosis?

ʻO nā hōʻailona o kēia 'Blepharophimosis Syndrome' e hoʻopilikia nui i ke ʻano o kou mau maka. E hoʻomanaʻo i nā hōʻailona nui ʻehā a mākou i kamaʻilio ai ma mua:

• Nā puka maka liʻiliʻi.
• Nā lihilihi maka e kulou ana ( Ptosis ).
• Nā maka i hoʻonohonoho nui ʻia (Telecanthus).
• He pelu ʻili e pelu ana i luna ma nā lihilihi o loko o lalo (Nā lihilihi o loko o lalo e pelu ana i luna - Epicanthus Inversus).

E noʻonoʻo wale, hiki i kēia mau hōʻailona ke hoʻololi iki i ke ʻano o ka helehelena o ke pēpē. He mea maʻamau i nā mākua ke hopohopo ke ʻike lākou i kēia. Akā, mai hopohopo, aia kekahi mau mea e hiki ke hana ʻia e pili ana i kēia.

Ma waho aʻe o kēia mau mea nui, hiki ke ʻike ʻia kekahi mau mea ʻē aʻe:

• ʻEctropion (ka huli ʻana o ka maka i waho).
• ʻO Strabismus, i ʻike ʻia hoʻi ʻo "nā maka kea ," he ʻano ia e kea ʻia ai nā maka.
• ʻO Amblyopia , i hana ʻia e ka lihilihi e hāʻule ana e ālai ana i ka ʻike. I ka pololei, ua ālai ka lihilihi i ka ʻike.
• ʻO nā pepeiao paʻa , i ʻike ʻia hoʻi he "cup ears" a i ʻole "lop ears," ʻo ia hoʻi, ua ʻāwili ʻia a pelu ʻia paha nā lihi o nā pepeiao.
• Nā pepeiao haʻahaʻa.
• He alahaka ākea o ka ihu.
• ʻOi aku ka liʻiliʻi o ka hakahaka ma waena o ka ihu a me ka lehelehe luna ma mua o ka maʻamau.
• ʻO ka poʻe me ke ʻano I he hemahema ovarian mua (POI).

No ke aha e hana ai kēia? He aha nā kumu? (He aha ke kumu o ka maʻi blepharophimosis?)

ʻO ke kumu nui o kēia 'Blepharophimosis Syndrome' he ʻano ʻokoʻa a i ʻole mutation i loko o kahi gene i kapa ʻia ʻo 'FOXL2'. Hoʻoili ʻia kēia ma o nā genes ma ke ʻano autosomal dominant .

I ka ʻōlelo maʻalahi, ʻo ia hoʻi inā hoʻokahi wale nō makua i loaʻa kēia gene i hoʻololi ʻia (mutated), hiki i ke keiki ke hoʻoilina iā ia.Eia nō naʻe, hiki i kekahi poʻe ke loaʻa i ke kūlana no ka manawa mua, ʻoiai inā ʻaʻole lākou i hoʻoilina mai ko lākou mau mākua mai. I kēlā mau hihia, ʻōlelo nā kauka he "hou" a he hoʻololi genetic hou paha ia, ʻo ia hoʻi, ʻaʻole i hoʻoilina ʻia mai kahi makua i hoʻopilikia ʻia.

ʻO nā pilikia ʻē aʻe e hiki ke kū mai ma muli o kēia (He aha nā pilikia o ka maʻi blepharophimosis?)

Hiki i ka Blepharophimosis ke hoʻopilikia i kou ʻike . Aia ʻoe i ka pilikia nui o ka loaʻa ʻana o nā hewa refractive , hiki ke lilo ka ʻike ma kahi mamao a kokoke paha.

ʻOi aku hoʻi, hiki i nā pēpē a me nā keiki liʻiliʻi me ka ptosis koʻikoʻi (kahi maʻi i kapa ʻia ʻo ka maka palaualelo) ke loaʻa i kahi maʻi i kapa ʻia ʻo amblyopia . ʻO kēia no ka mea ke ālai nei nā lihilihi i ko lākou ʻike, e pale ana i ka lolo mai ka loaʻa ʻana o nā hōʻailona mai kēlā maka. Inā ʻaʻole mālama koke ʻia kēia, hiki i ka ʻike ma kēlā maka ke lilo i mea hōʻino mau loa.

Pehea e ʻike ʻia ai kēia? (Pehea e ʻike ʻia ai ka maʻi blepharophimosis?)

Manaʻo paha kāu kauka he Blepharophimosis Syndrome kou ma hope o ka ʻike ʻana i nā hōʻailona lapaʻau nui ʻehā a mākou i kūkākūkā ai ma mua a me ka hana ʻana i kahi hoʻokolokolo maka. Hiki i kahi loea mālama maka ke hana i kekahi a i ʻole kēia mau hoʻokolohua āpau:

• Hoʻāʻo ʻike maka: Pili kēia i ka noi ʻana iā ʻoe e heluhelu i nā leka ma kahi pakuhi. Hiki i kēia hoʻāʻo ke kōkua i kāu kauka e hoʻoholo inā he mau hewa refractive kāu, e like me ka ʻike kokoke a i ʻole ka ʻike mamao.
• Nā hoʻāʻo no ka maka palaualelo (Amblyopia) a me ka strabismus .
• Nā hoʻāʻo koko no nā pae hormone hānau (ʻoi aku hoʻi inā kānalua ʻia ke ʻano I).
• Nā hoʻāʻo hoʻoilina : Hiki i kēia ke hōʻoia inā he mutation i loko o ka gene `FOXL2`.

He aha nā lāʻau lapaʻau? (Pehea e mālama ʻia ai ka maʻi blepharophimosis?)

Hoʻōla pinepine ʻia ka Blepharophimosis Syndrome me ke ʻoki ʻana i ka wā kamaliʻi . Ma waena o nā makahiki 3 a me 5, hana ʻia ke ʻoki ʻana e hoʻoponopono i nā kūlana i kapa ʻia ʻo epicanthus inversus (pele ʻana o ka ʻili o loko o ka maka liʻiliʻi) a me telecanthus (nā maka mamao loa). A laila, ma kahi o hoʻokahi makahiki ma hope mai, hana kekahi kauka ʻoki ʻē aʻe i ke ʻoki ʻana e hoʻoponopono i ka maka liʻiliʻi (ptosis). I kekahi manawa hiki ke hana ʻia kēia mau ʻoki āpau i ka manawa like, akā ʻaʻole maʻamau kēia.

Hana ʻia kēia mau ʻoki kino ʻaʻole wale no ka hoʻomaikaʻi ʻana i ke ʻano o nā maka, akā, no ke kōkua pū ʻana i ka ulu ʻana o ka ʻike o ke keiki. No ka mea, inā pani ʻia nā lihilihi maka, ʻaʻole e ulu pono ka ʻike.

Inā loaʻa iā ʻoe ka BPES type I, ʻo ia hoʻi ka Primary Ovarian Insufficiency, hiki i kāu kauka ke kuhikuhi i ka lāʻau hoʻololi hormone , ʻoiai nā mea hoʻohui estrogen. Eia nō naʻe, he mea nui e hoʻomanaʻo ʻaʻole hiki i kēia mau lāʻau ke hoʻoponopono i ka infertility . Pono ʻoe e kūkākūkā i kēia me kahi loea olakino hānau hou.

Aia kekahi ala e pale aku ai i kēia mai ka hana ʻana? (Pehea e hiki ai iaʻu ke hoʻohaʻahaʻa i koʻu pilikia o ka hoʻomohala ʻana i ka maʻi blepharophimosis?)

ʻAʻohe ala kikoʻī e pale aku ai i ka Blepharophimosis Syndrome, no ka mea, he maʻi hoʻoilina ia. Eia nō naʻe, inā loaʻa i kekahi o kou ʻohana ka maʻi, he manaʻo maikaʻi e noʻonoʻo i ke aʻoaʻo hoʻoilina ma mua o kou loaʻa ʻana o kahi keiki. Ma kēia ala, hiki iā ʻoe ke aʻo hou aʻe e pili ana i ia mea a kamaʻilio e pili ana i ka pilikia o kāu keiki e hoʻoilina iā ia.

He aha kaʻu e manaʻo ai inā loaʻa iaʻu ka maʻi blepharophimosis?

Inā loaʻa iā ʻoe ka Blepharophimosis Syndrome, pono ʻoe e hana i nā hoʻokolohua maka maʻamau . Hiki i kēia ke kōkua i ka nānā ʻana inā olakino kou ʻike a inā he mau pilikia ʻē aʻe.

Inā loaʻa iā ʻoe ke ʻano I, pono ʻoe e kamaʻilio me kahi endocrinologist a loea olakino hānau hou paha e pili ana i nā pilikia hormone a me ka momona.

Hiki ke mālama ʻia ka Blepharophimosis Syndrome, akā ʻaʻole hiki ke ho'ōla ʻia. ʻO ia hoʻi, ʻoiai hiki i ke ʻoki kino ke hoʻihoʻi i ke ʻano a me ka hana o nā maka i kekahi ʻano, ʻaʻole hiki ke hoʻololi i ke kumu hoʻoilina.

He aha nā nīnau e pono iaʻu e nīnau aku i kaʻu mea mālama ola kino?

He mea maikaʻi ke nīnau i kāu kauka i nā nīnau e like me kēia:

• ʻEhia pinepine e pono ai iaʻu e nānā i koʻu mau maka?
• Ke paipai nei ʻoe i ke aʻoaʻo genetic?
• He aha nā manaʻo e hiki iā ʻoe ke hāʻawi e hoʻoponopono ai i nā pilikia hānau keiki?
• Ma lalo o nā kūlana hea e pono ai ʻoe e hele i ka lumi pilikia ma muli o kēia maʻi?

He aha ka ʻokoʻa ma waena o ka Blepharophimosis intellectual disability syndrome a me kēia?

He mea huikau iki nō hoʻi kēia, no laila he mea maikaʻi ke wehewehe. Hiki i ka poʻe me nā maʻi i kapa ʻia ʻo 'Blepharophimosis intellectual disability syndromes' ke ʻike i nā lihilihi maka e hāʻule ana a me nā puka maka liʻiliʻi ma mua o ka maʻamau. Eia naʻe, ʻaʻole lākou e ʻike i ka 'telecanthus' (nā maka i hoʻokaʻawale ʻia) a i ʻole ka 'epicanthus inversus' (nā ʻili o loko).

ʻO ka mea nui loa, ʻo ka lohi o ka ulu ʻana o ka noʻonoʻo o ka poʻe me nā 'Blepharophimosis intellectual disability syndromes'.ʻO nā hiʻohiʻona o kēia e pili ana i nā kūlana i kapa ʻia ʻo `Ohdo syndrome` a me `Say-Barber-Biesecker-Young-Simpson syndrome.` Ua manaʻo nā kānaka ʻepekema aia ma lalo o 1,000 mau kānaka ma ʻAmelika Hui Pū ʻIa me kēia mau maʻi kīnā noʻonoʻo.

Eia nō naʻe, ʻo ka poʻe me ka `Blepharophimosis Syndrome (BPES)` a mākou e kamaʻilio nei, ʻaʻohe o lākou kīnā noʻonoʻo. ʻO kēia ka ʻokoʻa nui.

ʻO ka Blepharophimosis Syndrome, a i ʻole BPES, he maʻi laha ʻole ia i loaʻa i ka wā hānau. Hiki iā ʻoe a me kāu hui lapaʻau ke hoʻokele maikaʻi i kēia kūlana. ʻO ke ʻoki ʻana e hoʻoponopono i nā pilikia o ka maka he ʻāpana ia o ka hoʻolālā lapaʻau.

Leka Lawe-Home

ʻAe, no laila, mai kā mākou i kūkākūkā ai, ke lana nei koʻu manaʻo ua loaʻa iā ʻoe kahi manaʻo maikaʻi e pili ana i ka `Blepharophimosis Syndrome`. E hoʻomanaʻo:

• He kūlana hoʻoilina kēia, e hoʻopilikia nui ana i nā lihilihi maka.
• ʻO nā hōʻailona nui he mau maka liʻiliʻi, nā lihilihi e kulou ana, nā maka i kahi mamao loa, a me ka ʻili i pelu ʻia ma loko.
• ʻElua ʻano (ʻAno I a me ʻAno II) . I ke ʻAno I, hiki ke hoʻopilikia ʻia nā ovaries.
• ʻAʻole kēia e kumu i ke kīnā noʻonoʻo.
• Hiki i ke ʻoki kino ke hoʻomaikaʻi i ke ʻano a me ka hana o nā maka.
• He mea nui ka hoʻokolokolo maka mau ʻana a, inā pono, ka mālama ʻana i ka hormone.

He mea maʻamau ka makaʻu a me ka hopohopo ke ʻike ʻoe ua loaʻa i kāu keiki kēia maʻi. Akā e hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi. Me ke kōkua o nā kauka a me ka mālama kūpono, ua hiki i nā poʻe he nui ke hoʻokele i kēia maʻi a ola i kahi ola maʻamau. No laila, e noho ikaika a e ʻimi i nā ʻōlelo aʻoaʻo lapaʻau e pono ai.

ʻO Blepharophimosis, BPES, Nā maka lihilihi, Nā maʻi hoʻoilina, Ptosis, Epicanthus Inversus, Ola kino o ka maka