I kekahi manawa makaʻu loa nā mākua ke ʻike lākou i kekahi mau hōʻailona i loko o kahi pēpē hānau hou. ʻAʻole ʻai maikaʻi ka pēpē, ʻaʻole piʻi ke kaumaha, a hana koke paha i kahi ʻano ʻē. ʻO ke kumu o ia mau mea, ʻo ia paha nā 'Inherited Metabolic Disorders', ʻaʻole i lohe kekahi o mākou. Mai makaʻu ke lohe ʻoe i kēia inoa. ʻOiai he kumuhana paʻakikī iki kēia, e kamaʻilio maʻalahi kākou e pili ana.
I ka ʻōlelo maʻalahi, he aha kēia metabolism?
E noʻonoʻo i ko kākou kino e like me kahi hale hana nui. ʻO nā mea a kākou e ʻai ai a inu ai ( nā kalapona , nā protein , nā momona ) nā mea maka no kēia hale hana. ʻO ke kaʻina hana kemika paʻakikī e hoʻohana ana i kēia mau mea maka e hana i ka ikehu e pono ai ke kino, hoʻokuʻu i nā mea pono ʻole ma ke ʻano he ʻōpala, a hana i nā mea hou ʻo ia ka mea a kākou e kapa nei he metabolism .
Aia nā 'limahana' ma kēia hale hana e hoʻomau i ka holo pono ʻana o nā mea. Kāhea mākou i kēia mau limahana he mau enzymes . Hoʻokahi wale nō hana kikoʻī o kēlā me kēia enzyme. Hoʻopau kekahi i ke kō , hoʻopau kekahi i ka protein, a hoʻopau kekahi i nā mea ʻawahia .
ʻO ke ʻano o ka 'hewa hānau o ka metabolism' ʻo ia hoʻi, ʻaʻole hana pono kekahi o nā 'limahana' (nā enzymes) ma kēia hale hana, a i ʻole ʻaʻole i hānau ʻia kēlā limahana me ia. ʻO kēia ma muli o kahi kīnā i ka 'blueprint' genetic e pono ai e hana i kēlā enzyme.
Ua like kēia me ka nalowale ʻana o kekahi limahana ma kahi laina hōʻuluʻulu. Inā ʻaʻole i hana ʻia kekahi mea nui, a i ʻole pono ʻole, hōʻiliʻili nā mea ʻawahia a kū mai nā pilikia.
He aha ke kumu o kēia mau maʻi?
Hoʻokumu ʻia ka nui o kēia mau maʻi e nā kumu hoʻoilina . I ka ʻōlelo maʻalahi, i mea e loaʻa ai i kahi keiki ia maʻi, pono lākou e loaʻa i ʻelua kope o ka gene kīnā - hoʻokahi mai ko lākou makuahine a hoʻokahi mai ko lākou makuakāne.
I ka hapanui o nā hihia, ʻo nā mākua ʻelua nā 'mea lawe' o kēia gene kīnā. ʻO ia hoʻi, aia iā lākou ka gene kīnā a me ka gene olakino i loko o ko lākou kino. Ma muli o ka gene olakino, ʻaʻole lākou e loaʻa i kekahi mau hōʻailona.
Eia nō naʻe, inā hoʻoilina ke keiki i ka gene kīnā like mai ka makuahine a me ka makuakāne, ʻaʻole e hana ke kino o ke keiki i ka enzyme kūpono. ʻO ia ka manawa e kū mai ai ka maʻi. ʻAʻole hewa kēia na kekahi, he mea ia i hoʻoilina ʻia.
He aha nā ʻano maʻi i loaʻa?
He mau haneli o kēia ʻano maʻi. Loaʻa i kēlā me kēia kona mau hōʻailona kūikawā. E nānā kākou i kekahi o nā ʻano i kūkākūkā pinepine ʻia.
| Māhele maʻi a me nā laʻana | I ka ʻōlelo maʻalahi, he aha ka mea e hana ʻia? |
|---|---|
| Nā maʻi mālama Lysosomal E.g.: Ka maʻi Hurler, ka maʻi Tay-Sachs, ka maʻi Gaucher | Ma muli o ka emi ʻana o nā enzymes i loko o nā 'lysosomes', ka mea e wāwahi i nā huahana ʻōpala i loko o nā cell, hōʻiliʻili nā mea ʻawahia. Hiki i kēia ke hana i nā mea e like me ka hōʻino ʻana o ke aʻalolo a me nā ʻano kīnā o ka iwi. |
| ʻO ka galactosemia | ʻAʻole hiki i ka pēpē ke hoʻoheheʻe i ke kōpaʻa 'galactose' i loaʻa i ka waiū. Ma hope o ka inu ʻana i ka waiū umauma a i ʻole ka waiū waiū, hiki ke ʻike ʻia nā hōʻailona e like me ka luaʻi a me ka jaundice. |
| Maʻi mimi syrup Maple | ʻO ka hōʻiliʻili ʻana o kekahi mau waikawa amino i loko o ke kino e hōʻino i ka ʻōnaehana nerve. ʻAla ʻono ka mimi o ke keiki, e like me ka syrup maple. |
| ʻO ka Phenylketonuria (PKU) | Hoʻākoakoa kahi waikawa amino i kapa ʻia ʻo 'phenylalanine' i loko o ke koko. Inā ʻaʻole i ʻike ʻia a mālama ʻia i ka wā mua, hiki iā ia ke hoʻopilikia i ka ulu ʻana o ka noʻonoʻo. |
| Nā maʻi Metabolism Metala Laʻana: ka maʻi o Wilson, Hemochromatosis | ʻO nā hemahema i loko o nā protein e kaohi ana i nā metala e like me ke keleawe a me ka hao e pono ai ke kino hiki ke alakaʻi i nā pae ʻawahia i loko o ke kino. |
He aha nā hōʻailona o kēia maʻi?
ʻOkoʻa loa nā hōʻailona. Aia ia i ka enzyme i nele a me ke kaʻina hana metabolic i hoʻopilikia ʻia. Hōʻike kekahi mau maʻi i nā hōʻailona i loko o kekahi mau pule o ka hānau ʻana. Hiki i kekahi ke hala i nā makahiki e ulu ai.
Eia kekahi mau hōʻailona maʻamau:
- Ka palaualelo a me ka hiamoe: Luhi mau ke keiki a make ola ʻole.
- Anorexia: ʻAʻohe hoihoi i ka ʻai ʻana a i ʻole ka inu ʻana i ka waiū.
- ʻEha ʻōpū a me ka luaʻi ʻana: Luaʻi pinepine.
- ʻO ka emi ʻana o ke kaumaha a i ʻole ka nele o ka piʻi ʻana o ke kaumaha: ʻAʻole kūpono ka piʻi ʻana o ke kaumaha no ka makahiki.
- Jaundice: Melemele nā maka a me ka ʻili.
- Ka lohi o ka ulu ʻana: ʻO nā mea e like me ka minoʻaka, ke hāpai ʻana i ko lākou poʻo, a me ka hele wāwae e hana ʻia ma hope o nā keiki ʻē aʻe.
- Nā hopu ʻana: Loaʻa nā kūlana e like me ka hopu ʻana.
- ʻAla ʻē mai ka mimi, ka hou, a i ʻole ka hanu.
ʻO ka mea nui loa, ʻaʻole e hopohopo inā loaʻa iā ʻoe kekahi a ʻelua paha o kēia mau hōʻailona. Akā inā hoʻomau ka nui o kēia mau mea, e ʻike koke i kāu kauka.
Pehea e ʻike ʻia ai a mālama ʻia ai ka maʻi?
Ka hōʻoia ʻana o ka maʻi
Ma kekahi mau ʻāina i hoʻomohala ʻia, ua nānā ʻia kēlā me kēia pēpē hānau hou no kekahi mau maʻi like ʻole (Newborn Screening). Hana pū kekahi mau haukapila ma Sri Lanka i ka nānā ʻana no kekahi mau maʻi like ʻole.
Inā kānalua ke kauka i kēia ma hope o ka ʻike ʻia ʻana o nā hōʻailona, e kuhikuhi lākou i ka mea maʻi no nā hoʻokolohua koko kūikawā a me nā hoʻokolohua DNA. ʻO kēia wale nō nā ala e hōʻoia pololei ai i ka maʻi.
Nā ʻano lapaʻau
ʻAʻole i hoʻomohala ʻia ka ʻenehana e hoʻōla piha i ke kīnā genetic e hoʻoulu ai i kēia mau maʻi. Eia nō naʻe, nui nā lāʻau lapaʻau e hiki ke kōkua i ka mālama ʻana i ka maʻi a kōkua i ke keiki e ola i kahi ola maʻamau.
ʻEkolu mau pahuhopu nui o ka mālama ʻana:
- Ka palena ʻana i nā meaʻai hiki ʻole i ke kino ke ʻeli: Eia kekahi laʻana, hāʻawi ʻia kahi keiki me PKU i kahi papaʻai kūikawā e kaupalena ana i nā meaʻai waiwai i ka protein.
- Lapaʻau Hoʻololi Enzyme: No kekahi mau maʻi, lawelawe ʻia ka enzyme ma ke ʻano he lāʻau pale e hoʻāʻo ai e hoʻihoʻi i nā kaʻina hana o ke kino.
- Ka wehe ʻana i nā mea ʻawahia mai ke kino:Me ka hoʻohana ʻana i nā lāʻau lapaʻau a i ʻole nā ʻano hana kūikawā, hoʻoneʻe ʻia nā kemika ʻino i hōʻiliʻili ʻia i loko o ke kino.
ʻOi aku ka maikaʻi no ke keiki a i ʻole ka pākeke me kēia maʻi e ʻimi i ka lāʻau lapaʻau ma kahi haukapila i loea i kēia wahi. He mea nui loa e hahai pololei i nā ʻōlelo a ke kauka.
Leka Lawe-Home
- ʻO nā 'maʻi metabolic hānau' he mau kūlana i hoʻokumu ʻia e nā kumu hoʻoilina. ʻAʻole lākou he hewa iki na nā mākua.
- ʻOiai he kakaikahi kēia mau maʻi ma kēlā me kēia pākahi, ʻaʻole lākou i kakaikahi ke lawe ʻia i ka holoʻokoʻa.
- Inā hoʻomau kāu keiki i ka lohi o ka ulu ʻana, nā pilikia hānai, a i ʻole nā hōʻailona ʻē aʻe, mai hoʻowahāwahā iā lākou. E ʻimi koke i ke kōkua lapaʻau.
- Hiki ke mālama maikaʻi ʻia ka nui o kēia mau maʻi me ka ʻike mua ʻana, ka mālama kūpono, a me ka kaohi ʻana i ka ʻai.
- Me ka holomua o ka ʻepekema lapaʻau, e loaʻa paha nā lāʻau lapaʻau hou a ʻoi aku ka maikaʻi no kēia mau maʻi (e like me ka gene therapy) i ka wā e hiki mai ana.
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