Loaʻa i kāu keiki liʻiliʻi ma mua o hoʻokahi pilikia olakino? Ua ʻike paha ʻoe i kahi pilikia puʻuwai, nā maʻi pinepine, a i ʻole nā lohi o ka ulu ʻana. Hiki i ka nui o kēia mau pilikia pili ʻole ke loaʻa i hoʻokahi kumu. ʻO ia kekahi kūlana genetic a mākou e kamaʻilio ai i kēia lā. Ua kapa ʻia ʻo DiGeorge Syndrome.
I ka ʻōlelo maʻalahi, he aha ka DiGeorge Syndrome?
He maʻi hoʻoilina kēia. Hana ʻia ko kākou kino i nā pūnaewele. Loaʻa i kēlā me kēia pūnaewele kahi mea i kapa ʻia he chromosomes. E noʻonoʻo i kēia mau mea he mau puke nui e kākau ana i ke ʻano o ka hana ʻana o nā mea āpau i loko o ko kākou kino. No laila, hiki mai kēia kūlana ke nalowale kahi ʻāpana liʻiliʻi, e like me kahi ʻaoʻao, o kēia puke i kapa ʻia ʻo chromosome 22. I mea e pololei ai, ua kapa ʻia hoʻi kēia ʻo 22q11.2 deletion syndrome . ʻO ia hoʻi, ua nalowale ka ʻāpana i kapa ʻia ʻo 11.2 ma ka lima lōʻihi i kapa ʻia ʻo 'q' o ka chromosome 22.
Ke nalowale kēia ʻāpana liʻiliʻi o ka gene, hoʻopilikia ia i ka ulu ʻana a me ka hana o kekahi mau ʻāpana o ke kino o ke keiki. ʻAʻole i hoʻopilikia nui ʻia kekahi mau keiki, aʻo kekahi poʻe e hoʻopilikia iki ʻia. He ʻokoʻa ia mai kekahi keiki a i kekahi keiki. ʻOiai ʻaʻohe lāʻau lapaʻau piha no kēia, hiki iā mākou ke kāohi i nā hōʻailona a kōkua i ke keiki e ola i kahi ola maikaʻi.
He aha nā hōʻailona i ʻike ʻia ma kēia ʻano?
ʻAʻole like nā keiki a pau me kēia maʻi. ʻAʻole paha e hōʻike iki kekahi mau keiki i nā hōʻailona. Hiki i kekahi ke hōʻike i nā hōʻailona e hoʻopilikia i kekahi mau ʻāpana o ke kino. E nānā kākou i nā pilikia nui i ʻike ʻia.
| Hoʻopilikia ʻia ka ʻōnaehana kino | Nā hōʻailona e ʻike ʻia |
|---|---|
| Nā pilikia o ka puʻuwai |
|
| ʻŌnaehana pale kino (Kuleana Pale Kino) | |
| Nā ʻano helehelena ʻokoʻa | |
| Ka ulu ʻana o ka lolo a me ke aʻo ʻana (Nā pilikia noʻonoʻo) | |
| Nā Hōʻailona a me nā ʻŌuli ʻē aʻe |
|
No ke aha e hiki ai kēia i kahi keiki? He aha ke kumu?
E like me kā mākou i kūkākūkā ai ma mua, ua hana ʻia kēia e ka nalowale ʻana o kahi ʻāpana liʻiliʻi o ka chromosome 22. Aia ʻelua mau kumu nui no ke kumu o kēia.
1. Hanana kaulele: ʻO kēia ka mea maʻamau (9 mai ka 10) . Ke hāpai ʻia kahi keiki, ʻo ia hoʻi, ka manawa mua e hui ai ka hua manu o ka makuahine a me ka sperm o ka makuakāne, hiki ke nalowale kēia ʻāpana o ka chromosome me ka ulia pōpilikia. He mea kēia e hana kaulele ʻole ʻia.
2. Hoʻoilina mai nā mākua mai: Kākaʻikahi loa (ma kahi o 1 i loko o 10)Hiki i ke keiki ke hoʻoilina i kēia maʻi mai kona makuahine a makua paha i loaʻa iā ia. Ua hoʻoilina ʻia ma ke ʻano "autosomal dominant". ʻO ke ʻano kēia, inā loaʻa i kekahi o nā mākua ke maʻi, e loaʻa paha i ke keiki.
ʻO ka mea nui loa kēia. ʻO ka hapa nui o ka manawa, he hanana ulia pōpilikia kēia, no laila mai manaʻo ʻoe he mea ia no kekahi mea āu i hana ai a i ʻole i hana ʻole ai i kou wā hāpai. ʻAʻole kēia kou hewa iki.
Pehea e ʻike ai nā kauka i kēia?
I kekahi manawa, hiki i nā hoʻokolohua prenatal ke hāʻawi i nā hōʻailona e pili ana i ke kūlana. No ka laʻana, hiki ke ʻike ʻia i ka wā o ka ultrasound prenatal a i ʻole kahi hoʻokolohua kūikawā e like me ka amniocentesis.
Eia nō naʻe, i ka hapa nui o ka manawa, ʻike ʻia kēia ma hope o ka hānau ʻana o ka pēpē. Ke nānā ke kauka i ka pēpē, hiki iā ia ke kānalua i kēia ma ka ʻike ʻana i nā hiʻohiʻona kūikawā ma ka maka a me nā pepeiao o ka pēpē. A laila, hana ʻia kekahi mau hoʻokolohua e hōʻoia i ke kānalua.
Nā hoʻāʻo no kēia
- Echocardiogram: He scan e nānā i ka hana a me ke ʻano o ka puʻuwai.
- Nā hoʻāʻo koko: E nānā i ka pae calcium i loko o ke koko, e hana i kahi helu koko piha (CBC) a e nānā i ka helu o nā kele koko keʻokeʻo.
- X-ray o ka umauma: E nānā i ka nui o ka ʻōpū thymus.
- ʻO ke kani ʻana o nā puʻupaʻa
- Nā hoʻokolohua kūikawā e pili ana i ka pale ʻana: No ka laʻana, `Immunophenotyping` a me `Flow cytometry`.
- Hoʻāʻo hoʻoilina: ʻO kēia ka mea e hōʻoia pono ai inā ua nalowale kahi ʻāpana o ka chromosome 22.
Pehea e mālama ʻia ai kēia?
ʻAʻole hiki ke hoʻopau ʻia ke kīnā genetic e hoʻokumu ai i kēia maʻi. Eia nō naʻe, hiki ke mālama pono ʻia nā hōʻailona a me nā pilikia e kū mai ana mai ia mea. ʻAʻole kēia he mea hiki ke hana ʻia e hoʻokahi kauka wale nō. Hana pū kahi hui o nā loea ma nā ʻano like ʻole e mālama i ke keiki.
ʻOkoʻa nā ʻano lapaʻau ma muli o nā hōʻailona o ke keiki.
- Hāʻawi ʻia nā antibiotics no nā maʻi pinepine.
- Inā haʻahaʻa ka pae calcium i ke koko , hāʻawi ʻia nā mea hoʻopihapiha calcium .
- Hoʻōla ʻia nā pilikia lohe me nā ʻōmole pepeiao a i ʻole nā mea kōkua lohe.
- Hoʻōla ka ʻōlelo, ke kino a me ka hana lapaʻau i nā lohi i ka ʻōlelo ʻana, ka hele wāwae ʻana a me nā hana ʻē aʻe.
- Hoʻohana ʻia ka lāʻau lapaʻau hoʻololi hormone e mālama ai i nā pilikia hormonal.
- Pono paha ke ʻoki kino no nā pilikia o ka puʻuwai a i ʻole kahi palale māwae.
- Hoʻouna ʻia nā keiki me nā pilikia aʻo ʻana i nā papahana hoʻonaʻauao kūikawā ma ke kula.
I ka manawa hea e pono ai ʻoe e lawe i kāu keiki i ke kauka?
ʻO ka hapa nui o ka manawa, e ʻike ke kauka i kēia maʻi i ka wā hānau a i ʻole i ka wā o nā nānā maʻamau i ka wā kamaliʻi. Eia nō naʻe, inā kānalua ʻoe ua loaʻa i kāu keiki kekahi o nā hōʻailona a mākou i kūkākūkā ai, e kamaʻilio koke me kāu kauka .
ʻO ke ʻano kūikawā, inā pilikia kāu keiki i ka hanu ʻana, e lawe koke iā ia i ka ʻOihana Pilikia (ETU) o ka haukapila kokoke loa.
Ma ke ʻano he makua, hiki iā ʻoe ke kaumaha a kaumaha loa ke ʻike ʻoe he maʻi genetic kāu keiki e like me DiGeorge Syndrome. He mea maʻamau kēlā. Akā e hoʻomanaʻo, me ka mālama kūpono a me ke kākoʻo, hiki i kēia mau keiki ke ola i nā ola ʻeleu a hauʻoli. Me nā maʻi e hoʻoweliweli ana i ke ola e like me nā maʻi puʻuwai koʻikoʻi, hiki i ka hapa nui o nā keiki ke ola i kahi ola maʻamau.
Leka Lawe-Home
- ʻO ka maʻi DiGeorge kahi maʻi genetic i hoʻokumu ʻia e ka nalowale ʻana o kahi ʻāpana liʻiliʻi o ka chromosome 22.
- He mea maʻamau kēia. ʻAʻole na ʻoe ka hewa.
- ʻOkoʻa loa nā hōʻailona mai kekahi keiki a i kekahi keiki. Hiki i kekahi ke loaʻa nā hopena palupalu loa, aʻo kekahi e loaʻa paha nā maʻi koʻikoʻi e like me ka maʻi puʻuwai.
- ʻOiai ʻaʻohe lāʻau lapaʻau kūikawā no kēia, hiki i ka mālama ʻana i nā hōʻailona ke kōkua i ke keiki e ola i kahi ola olakino a ʻeleu.
- He mea nui ke kākoʻo o kahi hui o nā kauka loea no kēia. E kamaʻilio ākea me kāu kauka e pili ana i kēia.
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