Loaʻa iā ʻoe nā palapū ma kou kino a puni? A i ʻole luhi mau ʻoe a ʻeha nā iwi? ʻOiai ke ʻano maʻamau kēia mau mea, i kekahi manawa aia paha kahi maʻi laha ʻole ma hope o lākou, e like me ka maʻi Gaucher, pono kākou a pau e makaʻala. Mai hopohopo, e kamaʻilio mākou e pili ana i kēia ma ke ʻano maʻalahi i kēia lā, ma ke ʻano hiki iā ʻoe ke hoʻomaopopo.
He aha maoli ka maʻi Gaucher?
I ka ʻōlelo maʻalahi, he maʻi hoʻoilina kēia i hoʻoilina ʻia. I ka pololei, he maʻi kēia no ka māhele o nā maʻi mālama lysosomal (LSD). E noʻonoʻo e like me kahi hale hana i loko o ko mākou kino. Pono kēia hale hana e wehe pono i nā mea i makemake ʻole ʻia, ʻo ia hoʻi, nā huahana ʻōpala. I ka maʻi Gaucher, ʻaʻole i wāwahi pono ʻia a wehe ʻia kahi ʻano momona kūikawā i loko o ko mākou kino i kapa ʻia ʻo sphingolipids, akā hōʻiliʻili ʻia i loko o nā ʻōpū e like me ka iwi iwi, ke akepaʻa, a me ka spleen.
He aha ka mea e hana ʻia ke hōʻiliʻili ʻia ka momona e like me kēia?
- Pehu ʻana o ke kino: Hoʻonui ʻia nā ʻano e like me ke akepaʻa a me ka spleen.
- Nā iwi palupalu: Ke piha nā iwi i ka momona, nāwaliwali lākou a hiki ke haki maʻalahi.
ʻO ka mea nui , ʻoiai ʻaʻohe lāʻau lapaʻau piha no kēia maʻi, hiki ke kaohi i nā hōʻailona me nā lāʻau lapaʻau o kēia manawa a ola i kahi ola maikaʻi loa .
He aha nā ʻano nui o ka maʻi Gaucher?
ʻEkolu mau ʻano nui o ka maʻi Gaucher. Hoʻopilikia kēia mau ʻano āpau i nā ʻōpū a me nā iwi. Eia nō naʻe, hoʻopilikia kekahi mau ʻano i ka lolo. E hoʻomaopopo pono kākou i kēia mau ʻano.
| ʻAno maʻi (ʻAno) | Pehea kona hopena a me nā ʻike koʻikoʻi |
|---|---|
| ʻAno 1 |
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| ʻAno 2 |
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| ʻAno 3 |
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No ke aha i loaʻa ai kēia maʻi? He aha ke kumu?
Hoʻokumu ʻia kēia e kahi mutation i loko o kā mākou gene (ka gene `GBA`). Ke kuhikuhi nei kēia gene iā mākou e hana i kahi enzyme i kapa ʻia ʻo `glucocerebrosidase` (`GCase`).
He mau protein nā enzyme e kōkua ana i nā kaʻina hana kemika i loko o ko kākou kino. ʻO kekahi o nā hana nui o kēia enzyme 'GCase' ʻo ia ka wāwahi ʻana i nā momona (`sphingolipids`) a mākou i ʻōlelo ai ma mua a wehe iā lākou mai ke kino.
ʻAʻole lawa ka hana a ke kanaka me ka maʻi Gaucher i kēia enzyme i loko o ko lākou kino. A laila, ma kahi o ka wāwahi ʻia a hoʻopau ʻia, hōʻiliʻili kēlā mau momona ma nā wahi e like me nā ʻōpū a me ka iwi iwi ma ke ʻano he "Gaucher cells." ʻO kēia hōʻiliʻili ke kumu o nā pilikia āpau.
ʻO wai ka mea i loaʻa pinepine i kēia maʻi?
Hiki i kekahi ke loaʻa i kēia maʻi. Eia nō naʻe, ʻo ka maʻi Gaucher ʻano 1 ka mea maʻamau i waena o nā Iudaio Ashkenazi. ʻAʻole pili nā ʻano ʻelua ʻē aʻe (2 a me 3) i kekahi lāhui a i ʻole ka ʻano lāhui.
He aha nā hōʻailona o ka maʻi Gaucher?
ʻOkoʻa nā hōʻailona mai kēlā kanaka a kēia kanaka. ʻAneʻane ʻaʻohe hōʻailona o kekahi poʻe, aʻo kekahi poʻe hiki ke loaʻa nā hōʻailona koʻikoʻi e hoʻoweliweli i ke ola.
Nā hōʻailona e pili ana i nā ʻōpū a me ke koko
- Anemia: Ke piha ka iwi iwi i ka momona, emi iho ka hana ʻana o nā hunaola koko ʻulaʻula. Ke lawa ʻole nā hunaola koko ʻulaʻula e lawe i ka oxygen e pono ai ke kino, luhi loa ʻoe. Ua kapa ʻia kēia he anemia.
- ʻO ke akepaʻa a me ka spleen i hoʻonui ʻia: Hoʻonui ʻia kēia mau ʻōkana ʻelua ma muli o ka hōʻiliʻili ʻana o ka momona. ʻO kēia ke kumu o ka ʻōpū e puka a pehu. Ke hoʻonui ʻia ka spleen, luku ia i nā platelets, ka mea e kōkua ai i ke kāpili ʻana o ke koko.
- ʻEha a me ke kahe ʻana o ke koko: Ma muli o ka helu platelet haʻahaʻa, ʻoiai he ʻoki liʻiliʻi e lōʻihi ka manawa e hoʻōki ai i ke kahe ʻana o ke koko, e hopena ana i nā ʻeha a me ke kahe ʻana o ke koko mai ka ihu. He mea maʻamau nō hoʻi ke kahe ʻana o ka ihu.
- Luhi: Hiki i ka anemia ke hoʻonāwaliwali iā ʻoe a hiamoe i nā manawa a pau.
- Nā pilikia o ka māmā: Hiki i nā waihona momona i loko o nā māmā ke hoʻopilikia i ka hanu ʻana.
Nā hōʻailona e pili ana i nā iwi
Ke loaʻa ʻole i nā iwi ke koko, ka oxygen, a me nā meaʻai e pono ai lākou, hoʻomaka lākou e nāwaliwali.
- ʻEha: ʻEha nui ma nā iwi a me nā hono. Hiki ke ulu aʻe nā maʻi e like me ka rumatika.
- Osteonecrosis: ʻO kekahi inoa no kēia ʻo 'avascular necrosis'. I ka ʻōlelo maʻalahi, ʻo ia ka make ʻana o nā ʻiʻo iwi ma muli o ka nele o ka oxygen i nā iwi.
- Haʻihaʻi maʻalahi nā iwi: Hoʻoulu kēia maʻi i kahi kūlana i kapa ʻia ʻo osteoporosis. ʻO ke ʻano kēia, nalowale ka calcium i nā iwi, e hoʻolilo iā lākou i mea palupalu. ʻOiai ka hāʻule iki ʻana hiki ke kumu i ka haki ʻana o nā iwi.
Nā hōʻailona e pili ana i ka lolo (pili i nā ʻano 2 a me 3)
- Ka paʻakikī i ka hānai waiū a me ka lohi o ka ulu ʻana (i nā pēpē me ke ʻano 2).
- Nā pilikia o ke aʻo ʻana a me ka hoʻomaopopo ʻana.
- Nā pilikia maka, e like me ka paʻakikī i ka neʻe ʻana i kou mau maka mai kēlā ʻaoʻao a i kēia ʻaoʻao.
- Nā pilikia me ke kaulike a me ka hoʻonohonoho ʻana.
- Nā ʻūlū a me ka haʻalulu koke o ke kino.
Pehea ʻoe e ʻike ai inā loaʻa iā ʻoe kēia maʻi?
Inā loaʻa iā ʻoe kēia mau hōʻailona, e nānā mua kāu kauka iā ʻoe a nīnau e pili ana i kāu mau hōʻailona. A laila aia ʻelua mau hoʻokolohua nui e hōʻoia i ka hōʻailona:
1. Hoʻāʻo koko: Ke ana kēia i ka pae o ka enzyme 'GCase' i loko o ke koko.
2. Hoʻāʻo DNA: Hoʻāʻo ʻia kahi laʻana kuha a i ʻole ke koko no ke alo o ka hoʻololi ʻana o ka genetic e hoʻoulu ai i ka maʻi.
Inā loaʻa i kekahi o kou ʻohana ka maʻi a ke hoʻolālā nei ʻoe e loaʻa nā keiki, hiki i kahi hoʻāʻo DNA ke haʻi iā ʻoe inā he mea lawe ʻoe . ʻAʻohe o nā hōʻailona o ka poʻe lawe, akā aia kā lākou mau keiki i ka pilikia o ka loaʻa ʻana o ka maʻi. He mea nui loa e kamaʻilio me kāu kauka e pili ana i kēia.
He aha nā lāʻau lapaʻau no ka maʻi Gaucher?
Eia hou, aia nā lāʻau lapaʻau kūpono loa no ka maʻi Gaucher ʻano 1. Eia nō naʻe, ʻaʻohe lāʻau lapaʻau no ka hōʻino ʻana o ka lolo i hoʻokumu ʻia e nā ʻano 2 a me 3.
ʻO nā lāʻau lapaʻau ʻelua nui no ka type 1:
| ʻAno Lapaʻau | Pehea e hana ai |
|---|---|
| Lapaʻau Hoʻololi ʻEnzyme (ERT) | ʻO kēia ke ʻano hana i hoʻohana pinepine ʻia. Hāʻawi ʻia kahi enzyme i nalowale mai ke kino ma ke ʻano intravenous ma kahi o hoʻokahi manawa i kēlā me kēia ʻelua pule. Hele kēia enzyme ma ke koko a wāwahi i ka momona i hōʻiliʻili ʻia i loko o nā ʻōpū. |
| Hoʻōla Hoʻemi Substrate (SRT) | He pila kēia āu e lawe ai ma ka waha. ʻO ka hana a kēia lāʻau lapaʻau, ʻo ia ka hōʻemi ʻana i ka hana ʻana o kēlā mau momona ʻino i loko o ke kino. A laila, ʻaʻole lākou e hōʻiliʻili. |
Pono e lawe ʻia kēia mau lāʻau lapaʻau i ke ola a pau e pale aku i ka hōʻino ʻana i nā ʻōpū a me nā iwi.
Āhea wau e ʻike ai i ke kauka?
- Inā loaʻa iā ʻoe a i kāu keiki paha kekahi o nā hōʻailona a mākou i kūkākūkā ai (ʻoi aku ka palapū i wehewehe ʻole ʻia, ka luhi nui, ka ʻeha o ka iwi, a me ka pehu ʻana o ka ʻōpū) , e ʻike pono i ke kauka.
- Inā ʻike ʻoe ua loaʻa i kekahi o kou ʻohana ka maʻi Gaucher, he mea naʻauao ke hoʻāʻo ʻoe iho.
- Inā ua ʻike ʻia ʻoe ua loaʻa iā ʻoe ka maʻi, he mea nui loa ia e hoʻomaopopo i kou mau kaikaina a me nā ʻohana pili, no ka mea, he maʻi paha kā lākou a he mau mea lawe paha.
He mea maʻamau ka makaʻu a me ka hopohopo ke ʻike ʻoe he maʻi laha ʻole kou e like me ka maʻi Gaucher. Akā e hoʻomanaʻo, aia nā lāʻau lapaʻau kūpono loa i kēia manawa, ʻoiai no ke ʻano 1. Ma ka hana pū ʻana me kāu kauka a me ka hahai pono ʻana i kāu hoʻolālā lapaʻau, hiki iā ʻoe ke kāohi i kāu mau hōʻailona a ola i kahi ola hauʻoli.
Leka Lawe-Home
- He maʻi laha ʻole ka maʻi Gaucher, kahi e waiho ʻia ai kahi ʻano momona maikaʻi ʻole i loko o ke kino i loko o nā ʻōpū a me nā iwi.
- ʻO ka luhi pinepine, ka maʻalahi o ka ʻeha, ka ʻeha o ka iwi, a me ka hoʻonui ʻia o ka spleen/ate nā hōʻailona nui.
- Aia nā lāʻau lapaʻau kūpono no ke ʻano maʻamau, ʻo Type 1, a hiki ke ola i kahi ola maʻamau.
- Hoʻopilikia pū nā ʻano 2 a me 3 i ka lolo a he mau maʻi ʻoi aku ka koʻikoʻi.
- Inā loaʻa iā ʻoe a i ʻole kekahi o kou ʻohana nā hōʻailona, he mea nui e ʻimi koke i ke aʻo lapaʻau. Hiki i ka ʻike mua ʻana ke kōkua i ka pale ʻana i ka pōʻino lōʻihi.
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