I kekahi manawa, ma ke ʻano he mau mākua, hopohopo iki mākou ke ʻike mākou i ka helehelena o kahi pēpē hānau hou a i ʻole nā manamana lima i hoʻonoho ʻia ma kahi ʻokoʻa iki, ʻeā? I ka manawa like, ʻōlelo pū nā kauka he "lua liʻiliʻi i loko o ka puʻuwai" kekahi mau pēpē. I kēia lā ke kamaʻilio nei mākou e pili ana i kahi kūlana genetic kakaikahi loa e hoʻohui pū ana i kekahi o kēia mau hiʻohiʻona a ua hōʻike ʻia ma kahi helu palena wale nō o nā ʻohana ma ka honua. Ua kapa ʻia kēia ʻo Char Syndrome ma ka ʻepekema lapaʻau. Mai makaʻu, e hoʻomaopopo maʻalahi kākou i nā mea āpau e pili ana i kēia.
No ke aha lā kēia e hana nei? He aha ke kumu o kēia?
I ka ʻōlelo maʻalahi, aia i kēlā me kēia ʻāpana o ko kākou kino, kēlā me kēia ʻōkana, kahi hoʻonohonoho o nā kuhikuhi i loko o ko kākou kino e pili ana i ke ʻano o kona ulu ʻana. Kāhea mākou i kēia mau genes . No laila, ua hana ʻia kēia maʻi Cha e kahi loli, a i ʻole mutation, i loko o kahi gene kikoʻī i kapa ʻia ʻo `TFAP2B`. ʻO kēia gene ka mea e kuhikuhi i kahi pēpē e hana i kahi protein e pono ai no kona helehelena, nā lālā, a me ka puʻuwai e ulu pono ai i ka wā e ulu ana i loko o ka ʻōpū.
ʻElua ala nui e hiki ai kēia kūlana:
1. Hoʻoilina: ʻO kahi keiki i hānau ʻia e kahi makuahine a makuakāne paha me ka maʻi Cha he 50% ka manawa e loaʻa ai ke ʻano. ʻO ke ʻano kēia, hiki i ke keiki ke hoʻoilina i ke kīnā i loko o kēlā gene.
2. De novo: I kekahi manawa, ʻoiai inā ʻaʻohe mea o ka ʻohana i loaʻa i ke ʻano, hiki ke hana ʻia kahi mutation hou i loko o ka gene `TFAP2B` ma kahi hanana i ka wā e hāpai ʻia ai kahi pēpē i loko o ka ʻōpū. ʻOiai i kēlā manawa, hiki i ke keiki ke loaʻa i ka maʻi Cha.
He aha nā hōʻailona nui o kēia?
ʻO ka maʻi Cha e hoʻopilikia nui i ʻekolu mau ʻāpana o ke kino: ka maka, nā lima, a me ka puʻuwai. E nānā kākou i kēia mau mea ma ke kaʻawale.
| ʻĀpana kino i hoʻopilikia ʻia | Nā hōʻailona i ʻike ʻia |
|---|---|
| Nā Hiʻohiʻona Maka |
|
| Nā Hiʻohiʻona Lima | ʻO ka hōʻailona maʻamau i ʻike ʻia i nā poʻe he nui he manamana waena pōkole loa a ʻaʻohe paha. ʻOiai ua hōʻike ʻia nā ʻano ʻē aʻe o nā lālā, he mea kākaʻikahi loa ia. |
| Maʻi puʻuwai | He nui nā pēpē i loaʻa i kahi maʻi puʻuwai i kapa ʻia ʻo Patent Ductus Arteriosus (PDA) . I ka ʻōlelo maʻalahi, i ka wā e noho ana kahi pēpē i loko o ka ʻōpū, aia kahi pilina liʻiliʻi ma waena o ʻelua o nā kīʻaha koko nui e lawe ana i ke koko mai ka puʻuwai aku. E pani ʻia kēia ma kāna iho i loko o kekahi mau lā o ka hānau ʻana. Akā i kēia hihia, e mau ana ka puka. Kāhea mākou iā ia he PDA. |
Inā ʻaʻole mālama ʻia, hiki i kekahi mau pēpē me PDA ke loaʻa nā pilikia e like me ka hanu wikiwiki, ka paʻakikī i ka hānai ʻana, a me ka piʻi ʻana o ke kaumaha. I nā hihia koʻikoʻi, hiki i kēia ke holomua i ka hāʻule ʻana o ka puʻuwai.
Pehea e ʻike ʻia ai kēia maʻi?
Inā kānalua kāu kauka i kēia i ka nānā ʻana i kāu pēpē, hiki iā ia ke kuhikuhi iā ʻoe i kahi geneticist a i ʻole ka mea aʻoaʻo genetic.
Ma laila, hiki i kahi hoʻāʻo genetic ke hōʻoia maopopo inā he kīnā i loko o ka gene `TFAP2B` e hoʻoulu ai i kēia ʻano. No kēia, lawe pinepine ʻia kahi hāpana koko, ʻili a i ʻole ka hāpana lauoho.
Ma hope o ka hōʻoia ʻana i ka maʻi, hiki i ke kauka ke ʻōlelo i kekahi mau hoʻokolohua e hōʻoia hou i ke olakino o ke keiki:
- Nānā niho: E nānā i nā pilikia me ka ulu ʻana o ka niho ma hope o 3 mau makahiki.
- He hoʻokolokolo maka: E nānā inā he strabismus a i ʻole nā pilikia hihiʻo.
- He hoʻāʻo hoʻolohe: E nānā no ka nalowale o ka lohe.
- Nānā puʻuwai: E nānā no ka PDA a i ʻole nā maʻi puʻuwai ʻē aʻe.
- Hoʻokolokolo kino: E nānā i nā pilikia ʻē aʻe me nā lālā.
- ʻO ka hoʻokolokolo ʻana i nā pilikia hiamoe a me ke ʻano a me ka nui o ke poʻo .
Inā loaʻa kēia maʻi i kāu keiki, he mea nui loa e kamaʻilio me kāu kauka e pili ana i ka pinepine o ka hana ʻana i kēia mau hoʻokolohua.
He aha nā lāʻau lapaʻau i loaʻa?
ʻO ka mea mua, ʻaʻole pono kēia mau keiki i kekahi lāʻau lapaʻau kūikawā no nā loli i ko lākou mau helehelena a i ʻole nā manamana lima. Eia nō naʻe, i ka wā e ulu iki ai ke keiki, aia kahi manawa e hoʻohenehene ʻia a hoʻoweliweli ʻia lākou e nā keiki ʻē aʻe ma ke kula a i ʻole ma ke kaiāulu. No laila, ma ke ʻano he mau mākua, he mea nui loa iā mākou ke makaʻala nui i kēia a kōkua i ke kūkulu ʻana i ka ikaika noʻonoʻo o ke keiki.
Eia nō naʻe, pono ka mālama ʻana i kahi PDA i loko o ka puʻuwai. Aia kekahi mau ʻano hana nui a nā kauka e hoʻohana ai e hana pēlā.
| ʻAno lapaʻau | He wehewehe maʻalahi |
|---|---|
| Nā lāʻau lapaʻau | Hoʻohana ʻia nā NSAID e pani i nā lua PDA i nā pēpē hānau mua ʻole. Eia nō naʻe, ʻaʻole pono kēia ʻano hana i nā pēpē hānau piha, nā keiki makua, a i ʻole nā mākua. |
| ʻoki kino | Hana ke kauka i kahi ʻoki liʻiliʻi ma waena o nā iwi ʻaoʻao e hiki ai i ka puʻuwai a pani i ka lua hāmama me nā humuhumu a i ʻole nā kīpī. |
| Kaʻina Hana Catheter | He hana maʻalahi kēia ma mua o ke ʻoki kino. Hoʻokomo ʻia kahi catheter (he ʻōmole lahilahi a palupalu) ma o kahi kīʻaha koko ma ka ʻūhā a i ka puʻuwai, a hoʻokomo ʻia kahi plug liʻiliʻi a i ʻole coil ma o ia mea e pani ai i ka lua. |
| Ke Kali Makaʻala | I kekahi manawa, inā liʻiliʻi loa ka lua PDA a ʻaʻole ia e hoʻoulu i nā pilikia olakino ʻē aʻe, hiki i ke kauka ke hoʻoholo e hana i kekahi mea akā e nānā i ke kūlana ma ka hana ʻana i nā hoʻokolohua. |
Leka Lawe-Home
- He maʻi laha ʻole ka maʻi Cha. Mai makaʻu i ka lohe ʻana e pili ana.
- ʻO ke kumu nui o kēia, ʻo ia nā loli i ke ʻano o ka maka, nā lima (ʻoi aku ka manamana lima liʻiliʻi), a me ka puʻuwai (maʻi PDA).
- Inā kānalua kāu kauka, hiki i ka hoʻāʻo genetic ke ʻike pololei i kēia.
- ʻOiai ʻaʻole pono ka mālama ʻana i nā loli ma ka maka a me nā lima, hana pinepine kahi maʻi PDA ma ka puʻuwai.
- He mea nui loa e hana i nā hoʻokolohua lapaʻau a pau e pono ai no kāu keiki i ka manawa kūpono a e hahai i nā ʻōlelo a ke kauka.
- Ma ke ʻano he mau mākua, ʻo ko kākou kuleana ke hāʻawi i kā kākou mau keiki i ke olakino maikaʻi o ka noʻonoʻo a me ke olakino kino.
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