Loaʻa iā ʻoe nā maka ʻulaʻula mai nā mea liʻiliʻi loa? A i ʻole luhi paha ʻoe me ka nui o kou hiamoe ʻana? Ke hakakā nei ʻoe me nā mea e like me ka ʻeha o ka iwi a me ka ʻōpū pehu? Aia paha kekahi maʻi ma hope o kēia mau mea i lohe ʻole ʻia e mākou, akā he mea nui loa ia e ʻike. I kēia lā, ke kamaʻilio nei mākou e pili ana i kekahi maʻi laha ʻole akā hiki ke mālama ʻia. ʻO ia ka maʻi Gaucher .
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I ka ʻōlelo maʻalahi, he aha ka maʻi Gaucher?
He maʻi hoʻoilina laha ʻole ka maʻi Gaucher. I ka pololei, no kahi hui o nā maʻi i kapa ʻia ʻo lysosomal storage disorders (LSD) . ʻAe, kani paʻakikī iki ka inoa, ʻeā? Mai hopohopo, e wehewehe maʻalahi wau.
E noʻonoʻo i loko o nā pūnaewele o ko kākou kino he mau 'ʻōpala' liʻiliʻi i kapa ʻia he lysosomes. ʻO kā lākou hana ka wāwahi a hoʻomaʻemaʻe i nā mea makemake ʻole ʻia, e like me nā momona, e hōʻiliʻili ana i loko o nā pūnaewele. I ka maʻi Gaucher, ʻaʻole hana ke kino i kahi enzyme e wāwahi i kahi ʻano momona kūikawā i kapa ʻia he sphingolipids . A laila hoʻomaka kēlā mau momona makemake ʻole e hōʻiliʻili ma nā wahi e like me ko kākou iwi iwi, ke akepaʻa, a me ka spleen.
Ke hōʻiliʻili ka momona ma kēia ʻano, nāwaliwali ko kākou mau iwi, a pehu a hoʻonui ʻia nā ʻōpū e like me ke akepaʻa a me ka spleen. ʻAʻole hiki i kēia mau ʻōpū ke hana pono i kā lākou hana. ʻOiai ʻaʻole hiki ke ho'ōla loa ʻia ka maʻi Gaucher, aia nā lāʻau lapaʻau e hiki ke kōkua i ka kaohi ʻana i nā hōʻailona a hiki iā ʻoe ke ola i kahi ola maikaʻi.
ʻEkolu mau ʻano nui o ka maʻi Gaucher:
ʻAʻole like nā maʻi Gaucher a pau. Ua ʻike mākou i ʻekolu mau ʻano nui o ia mea. Hoʻopilikia nā ʻano ʻekolu i nā iwi a me nā ʻōpū. Akā hoʻopilikia kekahi mau ʻano i ka lolo. E nānā kākou i kēia mau ʻano.
| ʻAno maʻi | Hopena a me nā ʻano | Nā mea nui |
|---|---|---|
| ʻAno Gaucher 1 (ʻAno 1) | ʻO kēia ke ʻano maʻamau. Hoʻopilikia ia i ka spleen, ke akepaʻa, ke koko, a me nā iwi. ʻAʻole ia e hoʻopilikia i ka lolo a i ʻole ka ʻōnaehana nerve. Loaʻa i kekahi poʻe nā hōʻailona liʻiliʻi loa. Hiki i kekahi ke loaʻa ka luhi nui, ka ʻeha iwi, a me ka ʻeha ʻōpū. | Hiki ke ʻike ʻia nā hōʻailona i kēlā me kēia makahiki, mai ka wā kamaliʻi a i ka wā ʻelemakule. Hiki ke hoʻomalu maikaʻi ʻia ka lāʻau lapaʻau. |
| ʻAno Gaucher 2 (ʻAno 2) | He ʻano laha ʻole kēia a koʻikoʻi hoʻi. Loaʻa ia i nā pēpē ma lalo o 6 mahina. Hoʻonui ia i ka spleen, paʻakikī ke neʻe, a me ka hōʻino nui o ka lolo . | ʻAʻohe lāʻau lapaʻau no kēia maʻi i kēia manawa. ʻO ka maʻamau, make nā pēpē me kēia maʻi i loko o ʻelua a ʻekolu mau makahiki. |
| ʻAno Gaucher 3 (ʻAno 3) | ʻOiai he mea maʻamau ia ma ka honua, he mea kākaʻikahi ia ma nā ʻāina e like me Sri Lanka. ʻIke ʻia nā hōʻailona ma mua o ka piha ʻana o nā makahiki he 10. Hoʻopilikia ia i nā iwi a me nā ʻōpū, a me ka lolo (ʻōnaehana nerve). | Hiki i ka lāʻau lapaʻau ke kōkua i nā poʻe he nui e ola i ko lākou mau makahiki 20 a 30 paha. |
No ke aha i loaʻa ai ka maʻi Gaucher?
He maʻi metabolic hoʻoilina ka maʻi Gaucher. ʻO ke ʻano kēia he mea ia e loaʻa ai iā kākou ma o nā genes mai ko kākou mau mākua.
He gene ko ko mākou kino i kapa ʻia ʻo ka gene GBA . ʻO ka hana a kēia gene ke kuhikuhi i ke kino e hana i kahi enzyme i kapa ʻia ʻo glucocerebrosidase (GCase) . Ma muli o kahi mutation i loko o ka gene GBA, ʻaʻole lawa ka hana a ke kanaka me ka maʻi Gaucher i kēia enzyme GCase.
I ka ʻōlelo maʻalahi, ua hoʻokumu ʻia ka maʻi e ka nele o kahi mea hana (ka enzyme GCase) e hoʻomaʻemaʻe i nā momona o ke kino. Me ka ʻole o kēia mea hana, hōʻiliʻili nā momona i makemake ʻole ʻia (nā pūnaewele Gaucher) i loko o ke kino a hoʻoulu i nā pilikia.
Hoʻopilikia kēia hōʻiliʻili ʻana o ka momona i ka hana o ke kino, luku i nā hunaola koko, a hoʻonāwaliwali i nā iwi.
He aha nā hōʻailona o ka maʻi Gaucher?
Hiki ke ʻokoʻa nā hōʻailona o ka maʻi Gaucher mai kēlā kanaka a kēia kanaka. Loaʻa i kekahi poʻe nā hōʻailona palupalu loa, aʻo kekahi poʻe he mau pilikia olakino koʻikoʻi paha. E hoʻokaʻawale kākou i kēia mau hōʻailona i kekahi mau ʻano.
Nā hopena ma nā ʻōpū o loko a me ke koko
Ke hōʻiliʻili nā kemika momona i loko o ke kino, hiki iā lākou ke loaʻa nā hopena like ʻole i kou koko a me nā ʻōpū.
- ʻAʻohe maʻi koko:Ke hōʻiliʻili ka momona i loko o ka iwi iwi, ua luku ʻia nā hunaola koko ʻulaʻula e lawe ana i ka oxygen. Hoʻokumu ʻia ka anemia e ka nele o nā hunaola koko ʻulaʻula.
- Nā ʻōpū i hoʻonui ʻia: Pehu a hoʻonui ʻia ka spleen a me ke akepaʻa i ka wā e hōʻiliʻili ai ka momona i loko o lākou. Hiki i kēia ke hoʻoulu i ka ʻōpū e pehu i mua a hōʻeha. I ka wā e hoʻonui ai 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, eha maʻalahi ke kino (ʻike ʻia nā kiko koko). ʻAʻole paʻa pono ke koko. Hiki ke kahe ka ihu a me ke kahe mau ʻana mai kahi ʻeha liʻiliʻi.
- Luhi: ʻO ka anemia ke kumu e luhi ai ʻoe a luhi hoʻi i nā manawa a pau.
- Nā pilikia o ka māmā: Hiki ke hōʻiliʻili ka momona i loko o nā māmā a hoʻoulu i nā pilikia hanu.
Nā hopena ma nā iwi
Ke loaʻa ʻole i nā iwi ka lawa o ke koko, ka oxygen, a me ka meaʻai, lilo lākou i nāwaliwali a maʻalahi hoʻi e haki.
- ʻEha: Hiki ke loaʻa ka ʻeha nui ma muli o ke kahe ʻana o ke koko i nā iwi. He mea maʻamau ka ʻeha o nā hono a me ka rumatika.
- Osteonecrosis: Kāhea ʻia hoʻi he avascular necrosis , ʻo ia ka make ʻana o nā ʻiʻo iwi ma muli o ka nele o ka oxygen i nā iwi.
- Haʻihaʻi maʻalahi nā iwi: Hiki i ka maʻi Gaucher ke hana i kahi maʻi i kapa ʻia ʻo osteoporosis (ka haʻahaʻa o ka calcium i loko o nā iwi, ka lahilahi o nā iwi). Hiki i kēia ke kumu i ka haki ʻana o nā iwi me kahi ʻeha liʻiliʻi.
Nā hopena ma ka lolo (ʻano 2 a me 3 wale nō)
Ma waho aʻe o nā hōʻailona ʻē aʻe, hoʻopilikia pū nā ʻano 2 a me 3 o ka maʻi Gaucher i ka lolo.
- ʻAno 2: ʻIke ʻia nā hōʻailona i loko o nā mahina 6 mua o ke ola. E ʻike paha ʻoe i nā mea e like me ka paʻakikī i ka hānai waiū a me ka lohi o ka ulu ʻana.
- ʻAno 3: ʻIke ʻia nā hōʻailona ma mua o 10 mau makahiki. E lilo lākou i mea ʻoi aku ka koʻikoʻi i ka hala ʻana o ka manawa.
- Nā hōʻailona neurological maʻamau:
- Ke paʻakikī i ka neʻe ʻana i nā maka mai kēlā ʻaoʻao a i kēia ʻaoʻao
- Nā pilikia me ka hele wāwae a me ke kaulike
- Nā ʻūlū a me ka ʻūlū ʻana o nā ʻiʻo
Pehea e ʻike ʻia ai ka maʻi Gaucher?
Inā loaʻa iā ʻoe a i ʻole kāu keiki kekahi o kēia mau hōʻailona, pono ʻoe e ʻike i kāu kauka a haʻi iā lākou e pili ana i ia mea. E nānā ke kauka iā ʻoe a nīnau e pili ana i kāu mau hōʻailona.
ʻElua mau ala nui e hōʻoia ai i ke alo o ka maʻi Gaucher:
1. Hoʻāʻo koko: Ke ana kēia i ka pae o ka enzyme GCase a mākou i kamaʻilio ai i loko o ke koko.
2. Hoʻāʻo DNA: Hiki i kēia hoʻāʻo, i hana ʻia ma kahi hāpana lawai a i ʻole ke koko, ke ʻike pololei i ke alo o ka hoʻololi ʻana o ka gene GBA e hoʻoulu ai i ka maʻi Gaucher.
ʻO ka mea nui, ʻo kekahi poʻe he mau mea lawe i kēia maʻi.Hiki nō. ʻO ia hoʻi, ʻaʻohe o lākou mau hōʻailona, akā aia kā lākou mau keiki i ka pilikia o ka loaʻa ʻana o ka maʻi. Inā loaʻa i kekahi o kou ʻohana kēia maʻi, a ke hoʻolālā nei ʻoe e loaʻa nā keiki, he mea nui loa ia e loaʻa ka ʻōlelo aʻoaʻo genetic.
Aia kekahi lāʻau lapaʻau no ka maʻi Gaucher?
ʻAe! Aia nā lāʻau lapaʻau kūpono loa, ʻoi aku hoʻi no ke ʻano Gaucher 1. Eia nō naʻe, ʻaʻohe lāʻau lapaʻau no ka hōʻino ʻana o ka lolo i hoʻokumu ʻia e nā ʻano 2 a me 3.
ʻElua mau ʻano lapaʻau nui.
| ʻAno lapaʻau | He aha ka mea e hana nei? | Pehea e hāʻawi ai |
|---|---|---|
| Lapaʻau Hoʻololi ʻEnzyme (ERT) | Pono nā hemahema i ke kino i ka lako o waho o ka enzyme GCase. Hele kēia enzyme ma o ke koko i nā ʻōpū a me nā iwi a wāwahi i ka momona i hōʻiliʻili ʻia. | Hāʻawi pinepine ʻia ia ma o ka intravenous, e like me ka saline, i hoʻokahi manawa i kēlā me kēia ʻelua pule. |
| Hoʻōla Hoʻemi Substrate (SRT) | ʻO ka hana a kēia, ʻo ia ka hōʻemi ʻana i ka hana ʻana o kēlā ʻano momona pilikia i loko o ke kino. ʻO ia hoʻi, hōʻemi ia i ka nui o ka 'ʻōpala' e hōʻiliʻili ana. | Hāʻawi ʻia ia ma ke ʻano he lāʻau lapaʻau waha i kēlā me kēia lā. |
Pono e lawe ʻia kēia lāʻau no ke ola holoʻokoʻa. Inā mālama pono ʻia, hiki i ke kanaka me ke ʻano 1 ke ola i kahi ola maʻamau a piha.
Āhea wau e ʻike ai i ke kauka?
Inā loaʻa iā ʻoe a i ʻole kāu keiki kekahi o nā hōʻailona i ʻōlelo ʻia ma kēia ʻatikala, e ʻike koke i kāu kauka ʻohana.
- Inā he mōʻaukala ʻohana kou, ʻo ia hoʻi inā loaʻa i kahi hoahānau ka maʻi Gaucher, he mea nui e hoʻāʻo ʻia hoʻi.
- Inā ua ʻike ʻia ʻoe me ka maʻi Gaucher, e hoʻomaopopo i kou mau kaikaina , no ka mea, he maʻi paha ko lākou a he mau mea lawe paha.
- Inā ʻoe e hāpai ana i nā keiki a manaʻo ʻoe ua pilikia ʻoe, e ʻimi i ke aʻoaʻo genetic .
He mea maʻamau ka makaʻu a me ka hopohopo ke aʻo ʻoe e pili ana i kahi maʻi laha ʻole e like me ka maʻi Gaucher. Akā e hoʻomanaʻo, he kūpono loa nā lāʻau lapaʻau i loaʻa i kēia lā. ʻO ka mea nui ka loaʻa ʻana o kahi hōʻailona pololei, hana pū me kahi loea, a hahai i kahi hoʻolālā lapaʻau kūlike. Ma kēlā ala, hiki iā ʻoe ke kāohi i kāu mau hōʻailona, pale i ka pōʻino lōʻihi, a noho olakino.
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- He maʻi hoʻoilina ka maʻi Gaucher i hoʻoili ʻia mai nā hanauna aku. Hoʻokumu ʻia ia e ka nele o kahi enzyme i loko o ke kino.
- ʻEkolu mau ʻano nui, a aia nā lāʻau lapaʻau kūpono no ke ʻano 1, ʻo ia ka mea maʻamau.
- ʻO ka palapū pinepine, ka luhi nui, ka ʻeha o ka iwi, a me ka ʻōpū nui paha nā hōʻailona nui.
- Hiki ke ʻike pololei ʻia ka maʻi ma o ka hoʻāʻo koko a i ʻole ka hoʻāʻo DNA.
- Inā loaʻa iā ʻoe a i ʻole kekahi o kou ʻohana nā hōʻailona, e kamaʻilio koke me kāu kauka. ʻO ka hoʻomaka koke ʻana o ka lāʻau lapaʻau, ʻoi aku ka maikaʻi o ka hopena.
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