Ua hānau ʻia kāu pēpē me ka ʻole o ka ʻāpana kala o kona maka? E kamaʻilio kākou e pili ana iā Aniridia me nā kikoʻī?

I ka wā i hānau mua ai kāu keiki liʻiliʻi i ke ao nei, ua ʻike anei ʻoe i kekahi mea ʻē a ʻokoʻa paha e pili ana i kona mau maka liʻiliʻi? I kekahi manawa, ʻoiai he kakaikahi loa, hānau ʻia nā pēpē me ka ʻāpana kala o ka maka, ʻo ka iris, kahi a kekahi e kapa nei he "apo ʻeleʻele", nalowale loa a hapa paha. I ka lāʻau lapaʻau, kapa mākou i kēia maʻi (Aniridia) . Hiki ke hopohopo iki ka lohe ʻana i kēia inoa, akā mai hopohopo. ʻO ka mea nui loa, ʻo ia ka ʻike pono ʻana i kēia. E kamaʻilio maopopo kākou e pili ana i nā mea a pau i kēia lā.

He aha maoli ʻo Aniridia? I ka ʻōlelo maʻalahi...

I ka ʻōlelo maʻalahi, ʻo Aniridia kahi kūlana i hānau ʻia ai kahi pēpē me ka hapa a i ʻole ka nele piha o ka ʻāpana kala o ko lākou mau maka, ʻo ia hoʻi ka iris. ʻAʻohe iris o kekahi mau pēpē. ʻO kekahi poʻe he hapa liʻiliʻi wale nō o ka iris ma nā maka ʻelua.

ʻO ka mea nui, ʻo kēia maʻi (Aniridia) e hoʻopilikia mau i nā maka ʻelua o ka pēpē. ʻAʻole ia he mea e hoʻopilikia wale i hoʻokahi maka. ʻO ka maʻamau, ʻike nā kauka i kēia maʻi i ka wā e hānau ai ka pēpē. No ka mea, ke nānā ʻoe i nā maka, ua maopopo ua nalowale kēia iris. ʻOiai pehea ka liʻiliʻi o ka iris o ka pēpē, e hoʻopilikia maoli kēia maʻi (Aniridia) i kona ʻike. Eia kekahi, hiki ke lilo i kumu no nā pilikia maka ʻē aʻe i kona wā e ulu ana.

No ke aha e hana ai kēia i kā mākou poʻe liʻiliʻi? He aha ke kumu o Aniridia?

I kēia manawa, ke noʻonoʻo nei paha ʻoe, "No ke aha i hiki ai kēia i kaʻu pēpē?" He maʻi hoʻoilina ʻo Aniridia. ʻO ia hoʻi, ua hoʻokumu ʻia e kahi loli o nā genes i loko o nā cell o ko mākou kino.

I mea e pololei ai, ʻo ke kumu nui o kēia he loli i loko o kahi gene i kapa ʻia ʻo (PAX6) . He mea nui loa kēia gene (PAX6). No ka mea, ʻoiai ke pēpē i loko o ka ʻōpū, kōkua kēia gene i ka hoʻokumu ʻia ʻana o nā maka o ke pēpē, kekahi mau ʻāpana o ka lolo, ke kaulahao kuamoʻo a me nā ʻāpana e like me ka pancreas. ʻO ka maʻamau, hana ʻia kēia loli genetic ma waena o 12 a me 14 mau pule o ka hāpai ʻana.

ʻO wai ka mea i ʻoi aku ka paʻakikī o ka loaʻa ʻana o kēia maʻi (Aniridia)? (Nā kumu pilikia)

ʻO Aniridia ka mea maʻamau i nā keiki nona nā mākua i loaʻa i ke ʻano. Eia kekahi laʻana, inā loaʻa iā kekahi o nā mākua ʻo Aniridia, aia kahi manawa kūpono e loaʻa pū i kā lāua keiki.

Akā, ʻaʻole kēia manaʻo inā loaʻa iā ʻoe ʻo Aniridia, e loaʻa pū ana i kāu mau keiki a pau. ʻO ia hoʻi, ʻoi aku ka nui o ka pilikia ma mua o nā poʻe ʻē aʻe.

Eia kekahi, i kekahi manawa hiki i kahi keiki ke loaʻa i kēia maʻi ʻoiai inā ʻaʻohe Aniridia o nā mākua ʻelua. Kapa mākou ia he sporadic, ʻo ia hoʻi, hiki ke loaʻa ma ka manawa ʻole . Ma kahi o hoʻokahi o kēlā me kēia keiki ʻekolu ke loaʻa iā Aniridia ma kēia ʻano.

He aha nā hōʻailona e hiki iā mākou ke ʻike i loko o kahi pēpē me Aniridia?

Ma muli o ka nalowale ʻana o ka ʻāpana kala o ka maka o ka pēpē, ʻo ia hoʻi ka iris, hiki ke ʻike ʻia ka pupil i ʻoi aku ka nui ma mua o ka maʻamau. I kekahi manawa hiki ke loli ke ʻano o kēia pupil mai kēlā ʻaoʻao a i kēia ʻaoʻao. Eia kekahi, he mea paʻakikī paha iā lākou ke hoʻoponopono i ko lākou mau maka i ka mālamalama ʻālohilohi a palupalu paha. Hiki i kēia ke hana i nā hōʻailona e like me:

• Nalowale piha a hapa paha o ka ʻike: Hiki ke emi ka ʻike ma kekahi a i ʻole nā ​​maka ʻelua.
• ʻIke pōwehiwehi: ʻAʻole paha ʻoe e ʻike maopopo i nā mea.
• ʻEha maka: I kekahi manawa hiki ke ʻeha nā maka.
• ʻIke haʻahaʻa: ʻEha loa paha ka ʻike.
• Photophobia: Paʻakikī ke nānā aku i ka mālamalama, hiki ke polū nā maka.

Hiki iā Aniridia ke hana i nā pilikia ʻē aʻe?

ʻAe, ʻaʻole paha he emi wale ka iris o ke keiki me Aniridia, akā, he mau ʻāpana pū kekahi o ka maka e kōkua ai i ka ʻike, e like me nā aʻalolo optic a me nā retinas.

Eia kekahi, i ka wā e ulu ai nā keiki me Aniridia, ʻoi aku ka nui o ka loaʻa ʻana o kekahi mau maʻi maka ʻē aʻe. Eia kekahi laʻana:

• Cataracts: Ke pouli ʻana o ka lens o ka maka.
• ʻO ka corneas pouli: Ke ao ʻana o ka membrane moakaka ma ke alo o ka maka.
• Glaucoma: He kūlana kahi e piʻi ai ke kaomi i loko o ka maka, e hōʻino ana i ke aʻalolo optic.
• Nystagmus: Ka neʻe wikiwiki a me ka hoʻokele ʻole o nā maka i mua a i hope.

ʻO kekahi mea nui , ʻo ia ka nui o ka pilikia o nā keiki me ka aniridia sporadic i ka loaʻa ʻana o kahi ʻano maʻi puʻupaʻa kakaʻikahi i kapa ʻia ʻo Wilms tumor. No ka mea, ʻo ka gene (PAX6) a mākou i kamaʻilio ai ma mua e pili ana i nā maka wale nō akā i ka ulu ʻana o nā ʻāpana ʻē aʻe o ke kino, me nā puʻupaʻa, hiki i nā loli i kēlā gene ke hoʻopilikia i nā ʻāpana ʻē aʻe. No laila, ke nānā nei nā kauka i kēia.

Pehea e ʻike pololei ai nā kauka i kēia maʻi (Aniridia)?

ʻO ka maʻamau, hiki i ke kauka ke ʻike i kēia maʻi (Aniridia) i ka wā e hānau ai ka pēpē, no ka mea, ua ʻike koke ʻia ua nele ka iris i nā maka o ka pēpē.

Eia nō naʻe, inā hopohopo ʻoe e loaʻa paha i kāu pēpē ʻo Aniridia a i ʻole kekahi maʻi genetic ʻē aʻe, inā paha no ka mea he maʻi kekahi o kou ʻohana a i ʻole no nā kumu ʻē aʻe, hiki iā ʻoe ke kamaʻilio me kāu kauka e pili ana i ka hoʻāʻo genetic prenatal . Pili kēia i ka lawe ʻana i kahi hāpana koko mai ou aku e ʻike ai inā pilikia kāu pēpē i ka loaʻa ʻana o kahi maʻi genetic. I kekahi manawa, hiki ke hana ʻia kahi hoʻāʻo i kapa ʻia ʻo amniocentesis . Pili kēia i ka lawe ʻana i kahi hāpana liʻiliʻi o ka wai amniotic e hoʻopuni ana i ka pēpē a hoʻāʻo iā ia.

He aha ka mea e hiki ke hana ʻia e mālama ai i kahi pēpē me Aniridia?

I ka mālama ʻana i ka aniridia, ʻo ka pahuhopu nui a nā kauka ka mālama ʻana a me ka hoʻomaikaʻi ʻana i ka ʻike o ka pēpē i ka hiki.

ʻO ka mea nui loa, ʻo ia ka nānā pinepine ʻana i nā maka o kāu pēpē e ke kauka maka. ʻO ka wikiwiki o kou ʻike ʻana i nā loli i nā maka o kāu pēpē, ʻoi aku ka maikaʻi o kou kūlana e hoʻokele i nā hōʻailona a pale i nā pilikia.

Pono paha ke pēpē i hoʻokahi a ʻoi aku paha o kēia mau lāʻau lapaʻau:

• Nā Aniani a i ʻole nā ​​​​Lani Hoʻopili: E like me nā poʻe ʻē aʻe me nā hemahema o ka ʻike, hiki i nā keiki me Aniridia ke hoʻomaikaʻi i ko lākou ʻike ma ka hoʻohana ʻana i nā aniani a i ʻole nā ​​​​lani hoʻopili. Loaʻa nā pilina kala kūikawā no nā keiki me Aniridia. Ua like kēia me ka iris o ka maka. Kōkua pū lākou i ka hoʻomalu ʻana i ka nui o ka mālamalama e komo ana i ka maka a hōʻemi i ka ʻike i ka mālamalama.
• Nā lāʻau lapaʻau: Inā loaʻa i kāu pēpē ka glaucoma a i ʻole nā ​​​​pilikia corneal, hiki i ke kauka ke kuhikuhi i nā kulu maka lāʻau lapaʻau, nā waimaka hana, a i ʻole nā ​​​​lāʻau lapaʻau ʻē aʻe .
• ʻOki kino: Inā ulu kahi cataract, pono paha e wehe ʻia me ke ʻoki cataract . Eia kekahi, pono paha ke ʻoki kino glaucoma i kekahi manawa e kāohi i ke kūlana. Ma ke ʻano he lāʻau lapaʻau hou, loaʻa paha i kekahi mau keiki ke koho e loaʻa nā iris artificial i hoʻokomo ʻia. Eia naʻe, ʻoiai he lāʻau lapaʻau hou loa kēia, ʻaʻole kūpono ia no nā keiki āpau. He hoʻoholo kēia na ke kauka.

He aha nā kūlana e pono ai ʻoe e ʻike koke i ke kauka?

Inā ʻike ʻoe i kekahi mau loli i nā maka a i ʻole ka ʻike o kāu keiki, e ʻike koke i ke kauka. Hiki iā ʻoe ke nīnau i ke kauka e like me:

• ʻEhia pinepine e pono ai iaʻu e nānā i nā maka o kaʻu pēpē?
• He kūpono anei ke kāpili iris artificial no kaʻu pēpē?
• He aha nā kūlana e loaʻa ai i kaʻu pēpē nā pilikia?
• He aha nā loli a i ʻole nā ​​hōʻailona e pono iaʻu e makaʻala nui?

I loko o kahi pilikia, ʻo ia hoʻi, inā ʻike ʻoe i kekahi o kēia mau hōʻailona, ​​​​pono ʻoe e lawe koke i kāu keiki i ka haukapila:

• Inā nalowale koke kou ʻike.
• Inā ʻike ʻoe i ka ʻeha nui ma kou mau maka.
• Inā hoʻomaka ʻoe e ʻike i nā kukui hou i mua o kou mau maka, a inā hoʻomaka ʻoe e ʻike i nā mea lana ʻeleʻele.

Inā loaʻa kaʻu pēpē iā Aniridia, he aha kaʻu e manaʻo ai?

Inā loaʻa iā kāu pēpē ʻo Aniridia, hiki iā ʻoe ke manaʻo e loaʻa iā lākou kekahi mau pilikia ʻike. Eia kekahi, pono lākou i nā hoʻokolohua maka maʻamau i ko lākou ola a pau.Penei e nānā ʻia ai ke olakino o kona mau maka.

Wahi a nā helu helu, ma kahi o ʻewalu o nā keiki he ʻumi me Aniridia he ʻike maka maikaʻi ʻole a i ʻole kekahi ʻano kīnā. Eia kekahi, nui ka poʻe me Aniridia e loaʻa i ka glaucoma, ma waena o nā makahiki 10 a me 20.

Eia naʻe, mai hopohopo i kēia mau helu helu. ʻAʻole kēia manaʻo e loaʻa i kēlā me kēia pēpē i hānau ʻia me Aniridia kēia mau mea āpau. E kamaʻilio me kāu kauka a kauka maka paha e ʻike i nā mea e pili pono ana i kāu pēpē a me nā mea e manaʻo ai i ko lākou ulu ʻana.

He mea maʻamau ka makaʻu a me ka haʻalulu ke ʻike ʻoe he maʻi ko kāu pēpē hānau hou e hoʻopilikia ai i ko lākou ʻike i ka wā hānau. Hiki iā Aniridia ke hana i nā pilikia like ʻole, akā aia nā lāʻau lapaʻau e hiki ke kōkua.

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

ʻAe, e hōʻuluʻulu kākou i kekahi o nā mea nui loa mai nā mea a kākou i kamaʻilio ai a e hoʻomanaʻo iā lākou:

• ʻO Aniridia kahi kūlana i hānau ʻia ai kahi pēpē me ka ʻole o ka ʻāpana kala a i ʻole kekahi hapa o ka maka, ʻo ia hoʻi ka iris.
• He kūlana hoʻoilina kēia. ʻO ke kikoʻī, pili ka gene (PAX6) i kēia.
• Hoʻopilikia maoli kēia ʻano i ka ʻike. I ka hala ʻana o ka manawa, hiki iā ia ke alakaʻi i nā maʻi maka ʻē aʻe e like me ka cataracts a me ka glaucoma.
• ʻO ka mea nui loa, ʻo ia ka ʻike ʻana i kēia maʻi i ka wā mua a e nānā mau ʻia nā maka o kāu keiki e ke kauka maka i nā manawa maʻamau. He mea kēia e pono e hana ʻia.
• Aia nā lāʻau lapaʻau no ke ʻano (Aniridia). ʻO kēia mau mea me nā aniani maka, nā aniani hoʻopili, nā lāʻau lapaʻau, a i kekahi manawa ʻo ke ʻoki kino.
• He mea maʻamau ka makaʻu a me ke kaumaha ke ʻike ʻoe ua loaʻa i kāu pēpē kēia maʻi. Akā, ʻo ka mea nui loa, ʻaʻole e hopohopo a hana ma muli o nā ʻōlelo aʻoaʻo lapaʻau kūpono. E hāʻawi kāu kauka iā ʻoe i ke kākoʻo āpau āu e pono ai.

Inā he mau nīnau hou aku kāu e pili ana i kēia, mai hūnā iā ʻoe iho. E nīnau i kāu kauka ʻohana a kauka maka paha.

ʻAniridia , iris o ka maka, ʻāpana kala o ka maka, hemahema o ka ʻike maka, gene PAX6, nā maʻi maka, nā maʻi maka pediatric