Ma ke ʻano he makua, hopohopo paha ʻoe no ke olakino o kāu keiki liʻiliʻi. I kekahi manawa he mea maʻamau ke manaʻo iki i ka makaʻu ke aʻo ʻoe e pili ana i nā maʻi kakaikahi a mākou i lohe ʻole ai. ʻĀ, i kēia lā ke kamaʻilio nei mākou e pili ana i kahi maʻi kakaikahi a ka poʻe he nui i lohe ʻole ai, akā he mea nui e ʻike. ʻO Homocystinuria kona inoa.
I ka ʻōlelo maʻalahi, he aha ka Homocystinuria (HCY)?
E noʻonoʻo, ʻike mākou ʻo nā meaʻai a mākou e ʻai ai, ʻoiai ka ʻiʻo, ka iʻa, ka waiū, a me nā hua manu, aia ka protein . Hana ʻia kēia protein nui i nā ʻāpana liʻiliʻi i kapa ʻia he amino acids . E like me nā poloka kūkulu. I loko o ke kino o ke kanaka olakino, ua wāwahi ʻia a hoʻoheheʻe ʻia kēia mau amino acids, a lilo i ikehu e pono ai ko mākou kino.
Eia nō naʻe, i loko o ke kanaka me Homocystinuria (HCY), ʻaʻole hiki i ke kino ke wāwahi pono a hoʻoheheʻe i kahi waikawa amino i kapa ʻia ʻo methionine . Ua kapa ʻia kēia he maʻi metabolic. Ke hana ʻia kēia, hoʻomaka kēia methionine a me kekahi kemika ʻē aʻe i kapa ʻia ʻo homocysteine, i hana ʻia mai ia mea, e hōʻiliʻili i loko o ke kino, ʻoi aku hoʻi i loko o ke koko. He mea weliweli kēia hōʻiliʻili. Inā ʻaʻole mālama ʻia, hiki i kēia ke hana i nā pilikia olakino koʻikoʻi.
No ke aha lā kēia e hana nei? He aha ke kumu o kēia?
Kōkua kahi enzyme kūikawā i loko o ko mākou kino i ke kaʻina hana o ka wāwahi ʻana i kēia waikawa amino i kapa ʻia ʻo methionine. E noʻonoʻo i kēia enzyme e like me kahi ʻokiʻoki. ʻOki kēia mau ʻokiʻoki i ka mea nui i kapa ʻia ʻo methionine i mau ʻāpana liʻiliʻi.
I loko o ke kanaka me ka homocystinuria, ʻaʻole i hana ʻia kēia enzyme (ʻūpā) i loko o ke kino, a inā i hana ʻia, ʻaʻole ia e hana pono.
ʻO ka mea nui, he maʻi hoʻoilina kēia. ʻO ia hoʻi, ua hoʻoili ʻia i nā hanauna. ʻElua mau genes e kuhikuhi iā ʻoe e hana i kēia enzyme. Pono kekahi e hoʻoilina mai kou makuahine a ʻo kekahi mai kou makuakāne. I mea e ulu ai ka homocystinuria, pono he kīnā i nā genes ʻelua i hoʻoilina mai kou makuahine a me kou makuakāne.
He aha nā hōʻailona e hiki iā mākou ke ʻike?
ʻO ka mea kupanaha, ke nānā ʻoe i kahi pēpē i hānau ʻia me Homocystinuria, ʻaʻohe ʻokoʻa. He mau pēpē maʻamau loa lākou. Hoʻomaka nā hōʻailona e ʻike ʻia i loko o nā makahiki mua o ke ola. ʻAʻole ʻike nā keiki āpau i kēia mau hōʻailona ma ke ʻano like. Loaʻa paha i kekahi mau keiki kekahi o kēia mau hōʻailona, aʻo kekahi poʻe ʻaʻole paha e hōʻike i kekahi.
E hoʻolohe i nā ʻano ma ka papa ma lalo.
| Māhele ʻano | Nā hōʻailona i ʻike pinepine ʻia |
|---|---|
| ʻAno kino | He ʻili keʻokeʻo a me ka lauoho, he ʻano ʻē ko lākou umauma, he kino kiʻekiʻe a wīwī hoʻi ma mua o nā keiki ʻē aʻe, a he mau manamana lima lōʻihi a wīwī hoʻi. |
| Ka ulu ʻana | Ka ulu mālie ʻana a me ka piʻi ʻana o ke kaumaha. |
| ʻIke maka | ʻO ka pohō nui o ka ʻike (nearsightedness), ka dislocation o ka lens, a me ka makapō pū kekahi. |
| Nā hōʻailona koʻikoʻi ʻē aʻe | Ka nāwaliwali o nā iwi (ka palupalu), nā ʻūpā koko (kahi e hoʻonui ai i ka pilikia o ka hahau ʻana a me ka maʻi puʻuwai), a me nā hopu ʻana. |
| Ka hoʻomohala ʻana a me ke ʻano | Ka lohi o ke kolo ʻana, ka hele ʻana, a me ke kamaʻilio ʻana. Nā pilikia aʻo a me nā pilikia noʻonoʻo. Nā pilikia o ka hoʻomalu ʻana i ka hana a me ka naʻau. |
Pehea e ʻike ai nā kauka i kēia?
Ma nā ʻāina he nui, hoʻohana ʻia kahi pale no nā keiki hānau hou e ʻike mua i nā maʻi e like me Homocystinuria. Hāʻawi kēia hoʻāʻo koko i kahi hōʻailona inā paha e pilikia ana ke keiki i ka loaʻa ʻana o ka maʻi.
Inā ʻano ʻē nā hopena, e paipai ke kauka i nā hoʻokolohua koko a me ka mimi kūikawā hou aʻe e hōʻoia i ka maʻi. Ma Sri Lanka, kauoha pinepine ʻia kēia mau hoʻokolohua ma hope o ka ʻike ʻia ʻana o nā hōʻailona a ma hope wale nō o ka kū ʻana o nā kānalua.
Pehea e mālama ʻia ai? He mea anei ia e makaʻu ai?
ʻAʻole, mai hopohopo. ʻO ka mea nui loa, ʻo ia ka hoʻomaka ʻana i ka lāʻau lapaʻau i ka wā e ʻike ʻia ai ka maʻi.E kōkua ke kauka metabolic iā ʻoe me kēia. Hiki ke ʻokoʻa ka hoʻolālā lapaʻau mai kekahi keiki a i kekahi keiki.
ʻElua mau ʻano lapaʻau nui:
1. Ka mālama ʻana i ka huaora B6
Aia kekahi ʻano homocystinuria ʻoi aku ka maʻalahi. Hiki ke kāohi ʻia ma ka hāʻawi ʻana i nā lāʻau kiʻekiʻe o nā mea hoʻohui huaora B6. E hoʻāʻo kāu kauka i kāu keiki e hoʻoholo inā kūpono kēia lāʻau no lākou. Hiki i kēia huaora ke kōkua i ka pale ʻana i nā pilikia o ka hana a me ka noʻonoʻo i kekahi mau keiki, a hiki nō hoʻi ke kōkua i ka hōʻemi ʻana i ka pilikia o ka maka, ka iwi, a me nā pilikia o ke koko.
2. ʻAi kūikawā (ʻAi Haʻahaʻa-Methionine)
Inā ʻaʻole pane ke keiki i ka lāʻau lapaʻau vitamin B6, ʻo ka hana aʻe e hoʻomaka i kahi papaʻai haʻahaʻa i ka methionine . Hoʻomau pinepine kēia papaʻai no ke ola holoʻokoʻa. He mea nui e ʻimi i ke kōkua o kahi meaʻai loea i nā maʻi amino acid.
| Nā mea e noʻonoʻo ai i ka wā e hahai ana i ka ʻai haʻahaʻa-methionine | |
|---|---|
| Nā meaʻai kiʻekiʻe-protein e pono e hōʻalo loa ʻia |
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| Nā meaʻai ʻē aʻe e kaupalena a hoʻōki paha |
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| Nā mea hiki iā ʻoe ke ʻai me ke akahele | ʻAʻole nui ka methionine i loko o nā huaʻai a me nā mea kanu, no laila hiki ke hoʻopau ʻia i nā nui i kāohi ʻia , e like me ka ʻōlelo a kāu kauka a me ka mea lapaʻau meaʻai. |
Eia kekahi, ke ʻōlelo nei ke kauka e hāʻawi ʻia kahi waiū kūikawā i ke keiki ma kahi o ka waiū. Aia i loko o kēia waiū nā meaʻai ʻē aʻe e pono ai no ka ulu ʻana o ke keiki, me ka lawe ʻia ʻana o ka methionine.
Eia kekahi, hiki i ke kauka ke kuhikuhi i kekahi mau mea hoʻohui ʻē aʻe.
- ʻO Betaine a me ka waikawa folic: Hoʻemi kēia i nā pae o ka homocysteine ʻino e hōʻiliʻili ana i loko o ke koko.
- ʻO ka Wikamina B12 a me L-cysteine: Hiki ke hemahema kēia mau mea ma muli o ka maʻi. Hāʻawi ʻia ka B12 ma ke ʻano he pana a me ka L-cysteine ma ke ʻano he mea hoʻohui.
I mea e hōʻoia ai e holo pono ana ka lāʻau lapaʻau, pono e hoʻāʻo pinepine ʻia ke koko a me ka mimi o kāu keiki. I ka wā e ulu aʻe ai kāu keiki, pono paha ʻoe e hana i nā hoʻololi liʻiliʻi i ka hoʻolālā lapaʻau.
No laila, he aha kā kākou e noʻonoʻo ai no ka wā e hiki mai ana?
ʻO ka nūhou maikaʻi, inā hoʻomaka mua ʻia ka lāʻau lapaʻau a hoʻomau pono ʻia, hiki i ke keiki ke ulu a ulu maʻamau . Hiki i ka lāʻau lapaʻau kūpono ke hōʻemi nui i ka pilikia o ka hahau ʻana, ka maʻi puʻuwai, a me nā ʻūpā koko.
I kekahi manawa, hiki ke loaʻa nā pilikia ʻike maka me ka nānā ʻole i ka lāʻau lapaʻau. Akā hiki ke mālama ʻia me ke ʻoki kino a i ʻole nā ʻano hana ʻē aʻe. ʻO ka mea nui loa, ʻo ia ka mālama mau ʻana i ka launa pū ʻana me kāu kauka a hahai pololei i kāna mau kuhikuhi.
Leka Lawe-Home
- ʻO ka Homocystinuria kahi maʻi genetic laha ʻole kahi hiki ʻole i ke kino ke hoʻoheheʻe i ka methionine, kahi waikawa amino i loaʻa i nā meaʻai a mākou e ʻai ai.
- He kūlana kēia i hoʻokumu ʻia e nā ʻano genes kīnā i hoʻoilina ʻia mai ka makuahine a me ka makuakāne.
- ʻIke ʻia nā hōʻailona (ke kino pōkole, nā pilikia ʻike, ka lohi o ka ulu ʻana) ma hope koke iho o ka hānau ʻana o ke keiki.
- Hiki ke mālama pono ʻia kēia kūlana me kahi papaʻai kūikawā haʻahaʻa i ka wikamina B6 a i ʻole methionine.
- Hiki i ka ʻike mua ʻana a me ka mālama ʻana i ke ola holoʻokoʻa ke kōkua i kāu keiki e ola i kahi ola olakino a maʻamau. Inā he mau hopohopo kāu e pili ana i kēia, e kamaʻilio ākea me kāu kauka.
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