Aia kekahi ʻokoʻa ma nā maka o kāu keiki liʻiliʻi? Hiki paha iā ia ke Axenfeld-Rieger Syndrome?

ʻAʻole hiki ke wehewehe ʻia ka hauʻoli āu e ʻike ai ke nānā aku ʻoe i kahi pēpē hānau hou, ʻeā? Akā i kekahi manawa, he mea maʻamau ka makaʻu iki ʻana ke ʻike ʻoe i kahi ʻokoʻa ma kēlā mau maka liʻiliʻi, a i ʻole ma nā mea liʻiliʻi ʻē aʻe. No laila he mea nui e makaʻala i kekahi mau maʻi kakaikahi.

He aha ka maʻi ʻo Axenfeld-Rieger?

ʻAe, e kamaʻilio kākou e pili ana i ka maʻi Axenfeld-Rieger. I ka ʻōlelo maʻalahi, he ʻano genetic laha ʻole kēia. ʻO ia hoʻi, ua hoʻokumu ʻia e kahi mutation i loko o nā genes o kahi pēpē. Hoʻopilikia nui ia i nā maka o nā pēpē. Eia naʻe, i kekahi manawa hiki ke hoʻopilikia i ka ulu ʻana o nā ʻāpana ʻē aʻe o ke kino ma waho aʻe o nā maka. I ka wā ma mua, ua kapa ʻia kēia he Axenfeld anomaly.

ʻO ka maʻamau, ʻike nā kauka i kēia maʻi ke hānau ʻia kahi pēpē a i ʻole ke hoʻomaka ka ʻike ʻia ʻana o nā hōʻailona. Hoʻokumu ʻia ia e kahi loli i nā genes o kāu pēpē, a i ʻole ke kaʻina DNA. Ma muli o ke ʻano o ka hopena o ka maʻi Axenfeld-Rieger i nā maka o ka pēpē, hiki ke hoʻopilikia ʻia ka ʻike. Eia kekahi, hiki ke ulu aʻe nā pilikia maka ʻē aʻe i ka hala ʻana o ka manawa. Hoʻopilikia pinepine ke ʻano i nā maka ʻelua. ʻO ka mea nui, ʻoi aku ma mua o ka hapalua o nā pēpē me ka maʻi Axenfeld-Rieger e loaʻa i kahi maʻi maka i kapa ʻia ʻo glaucoma i kekahi manawa o ko lākou ola.

ʻO ke ʻano o ka lāʻau e pono ai kāu keiki e hilinaʻi ʻia i nā hōʻailona o ka maʻi Axenfeld-Rieger a me ke koʻikoʻi o ia mau hōʻailona. I ka wā e ulu ai kāu keiki, pono lākou i nā hoʻokolohua maka maʻamau e nānā i nā loli i ko lākou mau maka. Na kāu loea mālama maka a i ʻole ke kauka o kāu keiki e haʻi iā ʻoe i ka pinepine o kāu hana ʻana i kēia mau hoʻokolohua.

He aha ka ʻokoʻa ma waena o ka maʻi Axenfeld-Rieger a me Aniridia?

I kēia manawa ke noʻonoʻo nei paha ʻoe i ka ʻokoʻa ma waena o ka maʻi Axenfeld-Rieger a me kekahi maʻi maka i kapa ʻia ʻo Aniridia. He mau maʻi hānau ʻia nā mea ʻelua, ʻo ia hoʻi, aia lākou i ka wā hānau, a hoʻopilikia nā mea ʻelua i nā maka o kahi pēpē.

ʻO Aniridia, i ka ʻōlelo maʻalahi, ka nele o ka ʻāpana kala o ka maka, ʻo ia hoʻi ka iris. Hiki i kekahi mau pēpē ke nalowale loa i kēia iris, aʻo kekahi poʻe e nalowale hapa paha.

Eia nō naʻe, ʻo ka maʻi Axenfeld-Rieger ka mea nui e hoʻopilikia i ke keʻena mua o ka maka. Eia kekahi, ʻoi aku ka hopena ma mua o ka lens wale nō. E like me ka mea i ʻōlelo ʻia ma mua, hiki iā ia ke hoʻopilikia i ka ulu ʻana o nā ʻāpana ʻē aʻe o ke kino. ʻIke pinepine ʻia kēia mau maʻi ʻelua i ka wā hānau. Inā ʻike ʻoe i kekahi mau loli i nā maka a i ʻole ka ʻike o kāu pēpē, e ʻike pono i kahi loea maka.

Pehea ka maʻamau o kēia ʻano?

He maʻi laha ʻole ka maʻi ʻo Axenfeld-Rieger. Hoʻopilikia wale ia i hoʻokahi i loko o 200,000 mau pēpē i hānau ʻia i kēlā me kēia makahiki. No laila, ʻaʻole paha i lohe ka nui o ka poʻe e pili ana i ia mea.

He aha nā hōʻailona o ka maʻi Axenfeld-Rieger?

Hiki ke hoʻokaʻawale ʻia nā hōʻailona o ka maʻi Axenfeld-Rieger i ʻelua mau ʻāpana nui:

• Nā hōʻailona o ka maka: Nā hōʻailona e hoʻopilikia i nā maka o kāu keiki.
• Nā hōʻailona ʻōnaehana: Nā hōʻailona e kū mai me ka ulu ʻana ma kahi ʻē aʻe o ke kino o ke keiki.

Nā hōʻailona o ka maka

ʻO ka mea mua, e nānā kākou i nā ʻano e ʻike ʻia e pili ana i nā maka:

• ʻAʻole paha i hoʻomohala piha ʻia ka ʻāpana kala o ka maka.
• Nā haumāna ma ke kikowaena ʻole: ʻO ka ʻāpana ʻeleʻele o ka maka, ka haumāna, he wahi iki paha ma ke kikowaena ʻole.
• Nā pilikia me ka ʻaoʻao moakāka o mua o ka maka (cornea): Hiki ke loaʻa kekahi mau pilikia me ka cornea, ʻo ia ke alo o ka maka.

Ma muli o ka maʻi Axenfeld-Rieger, ʻoi aku ka nui o ka loaʻa ʻana o kāu keiki i kekahi mau maʻi maka ʻē aʻe. ʻO nā mea nui:

• Glaucoma: He mea maʻamau loa kēia.
• Nā Cataract: Nā Cataract .
• Coloboma: Ka nalowale ʻana o kahi ʻāpana o ka maka.
• Macular degeneration: Ka hōʻino ʻana i kahi ʻāpana o ka retina.
• Strabismus (nā maka keʻa): Ke keʻa ʻana o nā maka.

Nā hōʻailona ʻōnaehana e hoʻopilikia ana i nā ʻāpana ʻē aʻe o ke kino

I kēia manawa, e nānā kākou i nā hōʻailona e hoʻopilikia ana i nā ʻāpana ʻē aʻe o ke kino. ʻAʻole like kēia me nā hōʻailona e hoʻopilikia ana i nā maka. Eia nō naʻe, inā loaʻa i kāu keiki kēia mau hōʻailona, ​​​​hiki paha iā lākou:

• Nā pilikia o ke poʻo:
• Hypertelorism: Nā maka ākea a me kahi helehelena pālahalaha.
• I kekahi manawa, he laulā loa ka lae o kahi pēpē a puka i mua.
• Nā hōʻailona niho:
• ʻO nā pēpē me ka maʻi Axenfeld-Rieger i kekahi manawa hānau ʻia me nā niho liʻiliʻi loa.
• Ua nalowale paha kekahi mau niho.
• ʻIli keu:
• Hiki ke ulu aʻe nā ʻili keu ma ka ʻōpū o ke pēpē, kokoke i ka pihi ʻōpū .
• I nā keikikāne, i kekahi manawa hiki iā ʻoe ke ʻike i ka ʻili keu ma lalo o ka penis.
• Ka puka ʻana o ka urethra haiki a i ʻole ka puka anal.
• Nā kīnā puʻuwai: I kekahi manawa hiki ke loaʻa nā kīnā puʻuwai hānau.
• Nā pilikia o ke kelepa pituitary: Hiki i nā pēpē me ka maʻi Axenfeld-Rieger ke loaʻa i kekahi manawa nā lohi o ka ulu ʻana. ʻO ke ʻano kēia, ʻoi aku ka lōʻihi o ko lākou ulu ʻana ma mua o nā keiki ʻē aʻe.

He aha ke kumu o ka maʻi Axenfeld-Rieger?

He maʻi hoʻoilina ka maʻi ʻo Axenfeld-Rieger. ʻO ia hoʻi, ua hoʻoilina ʻia mai nā mākua a i nā keiki. Ua kapa pū nā kauka he maʻi hānau mua. ʻO ke kumu nui o ia mea ʻo nā mutations i loko o nā genes FOXC1 a me PITX2. ʻO ka maʻamau, kōkua kēia mau genes ʻelua i ka hoʻomalu ʻana i ka ulu ʻana o kahi pēpē, ʻoiai ka ulu ʻana o nā maka, i ka wā o ka embryo.

He maʻi hoʻoilina autosomal dominant ka maʻi Axenfeld-Rieger. I ka ʻōlelo maʻalahi, ʻo ia hoʻi, pono i ke keiki ke hoʻoilina i ka gene me kēia mutation mai kekahi o ko lākou mau mākua e loaʻa ai ke ʻano. Eia naʻe, ʻaʻole kēia manaʻo inā loaʻa kēia mutation i loko o kāu mau genes, e loaʻa maoli i kāu pēpē ka maʻi Axenfeld-Rieger. Eia nō naʻe, aia he 50% ka manawa e hiki ai kēia. No ka ʻike hou aku e pili ana i kēia, e kamaʻilio me kāu kauka e pili ana i ka hana ʻana i ke aʻo ʻana i ka genetic.

Pehea e ʻike ʻia ai ka maʻi ʻo Axenfeld-Rieger? (Diagnosis)

ʻO kāu kauka a kauka maka paha ka mea nāna e nānā i kāu keiki me ka maʻi Axenfeld-Rieger. E like me ka mea i ʻōlelo ʻia ma mua, inā he mau pilikia maopopo ko kāu keiki me ko lākou mau maka a i ʻole nā ​​​​​​ʻāpana ʻē aʻe o ko lākou kino i ka wā hānau, hiki ke ʻike ʻia i ka wā hānau. A i ʻole, hiki ke ʻike ʻia ma hope o ka hoʻomaka ʻana o ke keiki e hōʻike i nā hōʻailona.

E hana ke kauka maka i kahi hoʻokolokolo maka piha e nānā i nā maka o ke keiki (me loko). Hiki ke hana ʻia kekahi mau hoʻokolohua e ʻike ai i ka maʻi Axenfeld-Rieger, me:

• Hoʻāʻo ʻike maka: E nānā e ʻike inā ua pilikia ka ʻike o ke keiki.
• Gonioscopy: E nānā inā loaʻa ka glaucoma.
• Nā hoʻāʻo DNA a me ka hoʻāʻo Genetic: E nānā e ʻike inā loaʻa i ke keiki ka mutation genetic e hoʻoulu ai i ka maʻi Axenfeld-Rieger.

He aha nā lāʻau lapaʻau no ka maʻi ʻo Axenfeld-Rieger?

ʻO ka lāʻau no ka maʻi Axenfeld-Rieger e pili ana i kahi o nā hōʻailona o kāu keiki a me nā pilikia a lākou e hana nei. E kamaʻilio me kāu kauka a kauka maka paha e pili ana i nā lāʻau e pono ai kāu keiki a me ka pinepine o kā lākou hana ʻana i nā hoʻokolohua hahai e nānā i nā loli i ko lākou mau maka a me ke kino.

Ka mālama ʻana i ka Glaucoma

ʻOi aku ka nui o ka pilikia o nā keiki me ka maʻi Axenfeld-Rieger i ka loaʻa ʻana o ka glaucoma, a pono paha e mālama ʻia no ia i kekahi manawa o ko lākou ola.

ʻO Glaucoma kahi inoa maʻamau no kahi hui o nā maʻi maka e hōʻino ana i ke aʻalolo optic. Inā ʻaʻole mālama koke ʻia, hiki i ka glaucoma ke alakaʻi i ka makapō mau loa. I ka hapa nui o nā hihia, hōʻiliʻili ka wai ma ke alo o ka maka. Hoʻoulu kēia wai keu i ke kaomi i loko o ka maka (kaomi intraocular - IOP, a i ʻole ke kaomi maka), kahi e hōʻino mālie ai i ke aʻalolo optic.

ʻO nā lāʻau lapaʻau nui no ka glaucoma:

• Nā kulu maka lāʻau lapaʻau.
• Lapaʻau laser: Wehe i ka wai mai ka maka.
• ʻOki kino: E hoʻēmi i ke kaomi.

Hiki ke mālama ʻia ka Glaucoma e kāohi i ka nalowale hou ʻana o ka ʻike. Eia naʻe, ʻaʻole hiki ke hoʻihoʻi ʻia ka ʻike nalowale. No laila, inā loaʻa i kāu keiki kekahi o kēia mau hōʻailona o ka glaucoma, he mea nui loa e ʻike koke i kahi loea maka:

• ʻEha maka.
• ʻEha poʻo nui.
• Nā pilikia ʻike.

Hiki ke pale ʻia ka maʻi ʻo Axenfeld-Rieger?

Inā hoʻoilina kāu keiki i ka hoʻololi ʻana o ka gene e kumu ai, ʻaʻole hiki ke pale aku i ka maʻi Axenfeld-Rieger. Inā hopohopo ʻoe e pili ana i ka pilikia o kāu mau keiki e hoʻoilina i kahi maʻi genetic, e kamaʻilio me kāu kauka. Hiki ke kuhikuhi ʻia ʻoe no ke aʻo ʻana i ka genetic.

Inā loaʻa i kaʻu keiki ka maʻi ʻo Axenfeld-Rieger, he aha kaʻu e manaʻo ai?

ʻAʻole like nā hihia āpau o ka maʻi Axenfeld-Rieger. ʻO ka nui o kona hopena i ke ola o kahi keiki e pili ana i kahi o nā hōʻailona a me nā pilikia a lākou e hoʻokumu ai. E kamaʻilio me kāu kauka a kauka maka paha e pili ana i nā mea e makaʻala ai i ka wā e ulu ai kāu keiki.Inā ʻike ʻoe i kekahi mau hōʻailona hou, ʻoi aku ka maikaʻi e nānā iā lākou i ka wā hikiwawe loa.

Āhea wau e ʻike ai i ke kauka?

E ʻike koke i ke kauka ke ʻike ʻoe i kekahi loli i nā maka a i ʻole ka ʻike o kāu keiki.

I ka manawa hea e hele ai i ka lumi pilikia:

• Ka nalowale koke ʻana o ka ʻike.
• ʻEha nui o ka maka.
• ʻIke lākou i nā ʻālohilohi hou a i ʻole nā ​​mea lana i ko lākou mau maka. He mau hōʻailona hōʻike koʻikoʻi loa kēia.

He aha nā nīnau e pono iaʻu e nīnau aku i ke kauka/kauka?

Ke hele ʻoe e ʻike i ke kauka a i ʻole ke kahu maʻi, mai poina e nīnau i nā nīnau e like me kēia:

• Pono anei iaʻu e hana i ka hoʻāʻo DNA e hōʻoia inā loaʻa i kaʻu keiki ka maʻi Axenfeld-Rieger?
• Ma hea paha e loaʻa ai iā ia nā hōʻailona? (Ma nā maka wale nō paha, a ma nā ʻāpana ʻē aʻe o ke kino paha?)
• He aha ke ʻano o ka lāʻau lapaʻau e pono ai iā ia?
• He aha nā loli i kona mau maka a i ʻole ke kino e pono iaʻu e makaʻala pono ai?

Leka Lawe-Home

He maʻi hoʻoilina laha ʻole ka maʻi ʻo Axenfeld-Rieger. Hiki iā ia ke hoʻopilikia i nā maka o kāu pēpē. I kekahi manawa hiki ke ʻike ʻia nā hōʻailona ma nā wahi ʻē aʻe o ke kino. Ma muli o nā hōʻailona o kāu pēpē, pono paha ʻoe e makaʻala iā lākou e ʻike inā loli ko lākou mau maka a i ʻole ka ʻike. Eia nō naʻe, he mea hiki loa i kāu pēpē ke loaʻa i ka glaucoma i kekahi manawa o ko lākou ola. No laila, inā ʻeha nā maka o kāu pēpē a i ʻole e ʻoi aku ka ʻino o ko lākou ʻike, e ʻike koke i kahi loea maka.

Inā ʻoe e hopohopo nei e pili ana i ka hoʻoili ʻana i ka hoʻololi ʻana o ka genetic e hoʻoulu ai i ka maʻi Axenfeld-Rieger i kāu mau keiki, e kamaʻilio me kāu kauka. Hiki iā ia ke paipai i ka ʻōlelo aʻoaʻo genetic e kōkua iā ʻoe e hoʻomaopopo i kāu mau pilikia. E hoʻomanaʻo, he mea nui e makaʻala i kēia mau kūlana a e ʻimi i ka ʻōlelo aʻoaʻo lapaʻau i ka wā e pono ai.

ʻO ka maʻi Axenfeld-Rieger, ka maʻi Axenfeld-Rieger, nā maʻi genetic, nā maʻi maka, glaucoma, olakino o nā keiki, glaucoma, nā maʻi maka, nā maʻi genetic, nā kūlana hānau, aniridia, DNA