Ua lohe paha ʻoe i ka maʻi Gaucher? ʻAʻole paha. No ka mea he maʻi laha ʻole ia, ʻaʻole ia he maʻi maʻamau i ko mākou ʻāina. Akā, no ka mea, he maʻi hoʻoilina ia i hoʻoili ʻia mai kēlā hanauna a i kēia hanauna, he mea nui loa ia e makaʻala iā ia. Hiki i kēia maʻi ke hana i nā ʻano hōʻailona like ʻole, mai nā iwi nāwaliwali a hiki i ka lilo ʻana i polū me kahi palapū liʻiliʻi.
I ka ʻōlelo maʻalahi, he aha ka maʻi Gaucher?
ʻAe, e ʻōlelo kākou penei. Aia kekahi enzyme kūikawā i loko o ko kākou kino e kōkua ana i ka wāwahi a hoʻopau i kekahi mau ʻano momona. I loko o ke kino o ke kanaka me ka maʻi Gaucher, ʻaʻole hana pono kēia enzyme. A laila ʻo ka mea e hana ʻia, ʻo ia ke waiho ʻia ʻana o kēlā mau ʻano momona ma nā ʻāpana like ʻole o ke kino, ʻoi aku hoʻi i loko o ke akepaʻa, ka spleen, a me ka iwi iwi . Ke hōʻiliʻili ka momona ma kēia ʻano, hoʻomaka nā pilikia olakino like ʻole e kū mai.
ʻAʻohe lāʻau lapaʻau no kēia maʻi i kēia manawa, akā ma muli o ke ʻano o ka maʻi Gaucher āu, aia nā lāʻau lapaʻau maikaʻi loa e kaohi i nā hōʻailona.
ʻEkolu mau ʻano nui o ka maʻi Gaucher:
1. ʻAno 1: ʻO kēia ke ʻano maʻamau. ʻAʻole ia e hoʻopilikia i ka ʻōnaehana nerve. Hiki ke palupalu loa nā hōʻailona no kekahi poʻe, akā hiki ke ʻoi aku ka koʻikoʻi no kekahi. I kekahi manawa ʻaʻohe hōʻailona iki. Aia nā lāʻau lapaʻau maikaʻi no kēia ʻano.
2. ʻAno 2 a me ʻAno 3: ʻOi aku ka koʻikoʻi o kēia mau ʻano ʻelua ma mua o ke ʻano 1 no ka mea e hoʻopilikia ana lākou i ka ʻōnaehana nerve waena, ʻo ia hoʻi ka lolo a me ke kaula kuamoʻo. ʻAʻole ola nā pēpē me ke ʻano 2 ma mua o 2 mau makahiki. Hoʻopōʻino pū ke ʻano 3 i ka lolo, akā ʻike ʻia nā hōʻailona ma hope iki o ka wā kamaliʻi.
He aha ke kumu o ka maʻi Gaucher?
ʻAʻole kēia he maʻi e hiki ke laha mai ke kanaka a i ke kanaka e like me ke anu. He maʻi genetic piha kēia i hoʻoili ʻia mai kēlā hanauna a i kēia hanauna. Hoʻokumu ʻia ia e kahi kīnā i loko o kahi gene i kapa ʻia ʻo GBA.
E noʻonoʻo, e loaʻa wale ana kēia maʻi i kahi keiki inā loaʻa iā lākou kēia gene GBA hemahema mai ko lākou makuahine a me ko lākou makuakāne. ʻOiai inā ʻaʻohe maʻi o kekahi, hiki iā lākou ke loaʻa kēia gene hemahema i loko o ko lākou kino (he mea lawe) a hoʻoili iā ia i kā lākou mau keiki.
ʻOi aku ka maʻamau o kēia maʻi i waena o ka poʻe mamo Iudaio (nā Iudaio Ashkenazi) ma ʻEulopa Hikina a me ʻEulopa Waena.
He aha nā hōʻailona o kēia maʻi?
Hiki ke ʻokoʻa loa nā hōʻailona mai kēlā kanaka a kēia kanaka. ʻOkoʻa nō hoʻi lākou ma muli o ke ʻano o ka maʻi. E nānā kākou i nā hōʻailona e pili ana i kēlā me kēia ʻano.
| ʻAno maʻi | Nā Hōʻailona Maʻamau |
|---|---|
| ʻAno 1 |
|
| ʻAno 2 (No nā pēpē ma waena o 3-6 mahina) | |
| ʻAno 3 (Hoʻomaka i ka wā kamaliʻi) | |
| Gaucher Cardiovascular (ʻAno 3c) (He ʻano laha ʻole) |
Pehea e ʻike ai i ka maʻi?
Ke hele ʻoe e ʻike i ke kauka me kēia mau hōʻailona, hiki iā ia ke nīnau iā ʻoe i nā nīnau e like me:
- I ka manawa hea ʻoe i ʻike mua ai i nā hōʻailona?
- He aha ke ʻano lāhui o kou ʻohana?
- Ua loaʻa i kekahi o nā hanauna ma mua o ka ʻohana nā pilikia olakino e like me kēia?
- Ua make anei kekahi o kou ʻohana a ʻohana paha i loaʻa nā keiki ma lalo o 2 makahiki?
Inā kānalua kāu kauka he maʻi Gaucher kou, hiki iā lākou ke hōʻoia me kahi hoʻāʻo koko a i ʻole ka hoʻāʻo lawai . Pono nō hoʻi lākou e loaʻa nā hoʻokolohua maʻamau e nānā i ka holomua o ka maʻi.
Eia kekahi, hiki ke hana ʻia kahi scan MRI e nānā i ka pehu ʻana o ke akepaʻa a i ʻole ka spleen, a hiki ke hana ʻia kahi hoʻāʻo nui o ka iwi e nānā i ka nui o ka iwi.
He aha nā lāʻau lapaʻau no ka maʻi Gaucher?
Aia nā koho lapaʻau i ke ʻano o ka maʻi a me ke koʻikoʻi o nā hōʻailona. Inā palupalu loa nā hōʻailona, ʻaʻole pono ka lāʻau lapaʻau.
Nā ʻano lapaʻau nui
- ʻO ka Enzyme Replacement Therapy (ERT): ʻO kēia ka lāʻau lapaʻau nui no kekahi poʻe me ka maʻi diabetes type 1 a me type 3. Pili kēia i ka hāʻawi ʻana i ke kino i kahi enzyme i nele. Hāʻawi ʻia kēia lāʻau lapaʻau ma ke ʻano intravenous (IV) ma kahi o hoʻokahi manawa i kēlā me kēia ʻelua pule. Kōkua ia i ka hoʻēmi ʻana i ka anemia, hoʻoikaika i nā iwi, a hoʻōla i ka spleen a me ke akepaʻa i hoʻonui ʻia. Eia naʻe, ʻaʻole maikaʻi loa kēia lāʻau lapaʻau no nā pilikia me ka ʻōnaehana nerve e hoʻopilikia ana i ka lolo. ʻO 'Imiglucerase (Cerezyme)' a me 'Velaglucerase alfa (VPRIV)' he mau lāʻau lapaʻau o kēia ʻano.
- ʻO ka Substrate Reduction Therapy (SRT): ʻO kēia nā pila e kāohi ana i ka hana ʻana o ka momona e hōʻiliʻili ana i loko o ke kino i ka maʻi Gaucher. ʻO Eliglustat (Cerdelga) a me Miglustat (Zavesca) nā lāʻau lapaʻau like ʻole. Hāʻawi ʻia lākou i nā maʻi makua ʻano 1 i kūpono ʻole no ka mālama ʻana i ka ERT.
ʻO ka mea nui loa, ʻaʻohe lāʻau lapaʻau e hiki ke hoʻōki i ka hōʻino ʻana o ka lolo i hoʻokumu ʻia e ka maʻi diabetes type 3, akā ke hoʻomau nei nā mea noiʻi i ka hana ma luna.
Nā lāʻau lapaʻau kākoʻo ʻē aʻe
- Nā hoʻoili koko no ka anemia
- Nā lāʻau lapaʻau e hoʻoikaika i nā iwi a hōʻemi i ka ʻeha
- ʻO ke ʻoki hoʻololi hui e hoʻomaikaʻi ai i ka neʻe ʻana
- ʻO ke ʻoki kino e wehe i kahi spleen i hoʻonui ʻia
- Nā lāʻau lapaʻau hoʻomalu ʻeha
- ʻO ka lawe ʻana i nā meaʻai hou aʻe e like me ka huaora D a me ka calcium inā ʻōlelo ʻia e kāu kauka
Ke noho nei me ka maʻi a me nā mea e manaʻo ai
No ka mea, he ʻokoʻa kēia maʻi no kēlā me kēia kanaka, pono ʻoe e hana pū me kāu kauka e ʻike i ka hoʻolālā lapaʻau kūpono iā ʻoe. Hiki i ka lāʻau lapaʻau ke kōkua iā ʻoe e ola maikaʻi a hoʻolōʻihi i kou ola.
Hiki i ke keiki me ka maʻi Gaucher ke ulu lohi iki ma mua o nā keiki ʻē aʻe. Hiki paha iā lākou ke lohi i ka wā ʻōpiopio. Ma muli o nā hōʻailona, pono paha ʻoe e pale i nā hana e like me nā haʻuki pili. Pono paha kekahi poʻe e hoʻoikaika hou e noho hana ma muli o ka ʻeha nui a me ka luhi.
He paʻakikī ke noho ʻana me kahi ʻano e like me kēia, no laila he mea nui loa e ʻimi i ke kākoʻo mai ka ʻohana a me nā hoaaloha, a me ke aʻoaʻo noʻonoʻo inā pono.
Leka Lawe-Home
- He maʻi hoʻoilina ka maʻi Gaucher i hoʻoili ʻia mai nā hanauna aku, ʻaʻole ia he maʻi i laha mai ke kanaka a i ke kanaka.
- Hiki ke ʻokoʻa loa nā hōʻailona ma muli o ke ʻano o ka maʻi a me ke kanaka. No kekahi poʻe, he palupalu loa nā hōʻailona.
- He mea nui loa ka ʻike ʻana i ka maʻi a hoʻomaka i ka lāʻau lapaʻau i ka wā mua.
- ʻOiai aia nā lāʻau lapaʻau holomua loa (ERT a me SRT) no ke ʻano 1 a me kekahi mau hiʻohiʻona o ke ʻano 3, ʻaʻole hiki ke ho'ōla loa ʻia ka maʻi.
- Inā loaʻa iā ʻoe a i ʻole kāu keiki kēia maʻi, he mea nui e hahai i kahi hoʻolālā lapaʻau kūpono ma ka hana pū ʻana me kāu kauka.
- ʻO ka loaʻa ʻana o ke kākoʻo mai ka ʻohana a me nā hui kākoʻo he mea hoʻoikaika nui ia i ka ikaika noʻonoʻo.
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