Ua lohe paha ʻoe i kahi maʻi i kapa ʻia ʻo GM1 gangliosidosis? ʻAʻole paha. No ka mea, he maʻi kakaikahi ia, ʻaʻole ia e hoʻopilikia i nā kānaka a pau. Akā, he mea nui e makaʻala i kēia mau maʻi. I ka ʻōlelo maʻalahi, ʻo kēia maʻi ke kumu o ka hōʻiliʻili ʻana o kekahi mau ʻāpana i loko o ko kākou kino, ʻoiai nā pūnaewele nerve, a hōʻino i ka lolo a me ke kaula spinal. He pōʻino hiki ʻole ke hoʻihoʻi ʻia kēia.
He aha ka gangliosidosis GM1?
ʻAe, e hele kākou i loko o nā kikoʻī hou aku. He maʻi genetic kakaikahi ka GM1 gangliosidosis. Hoʻoulu ia i kekahi mau molekala i loko o ko kākou kino, ʻoiai nā momona a me nā kō, e hōʻiliʻili i loko o nā hunaola nerve i loko o ka lolo a me ke kaula spinal. Hana ʻia kēia hōʻiliʻili ʻana no ka mea ʻaʻole hana ke kino i kahi enzyme kūikawā e kōkua i ka wāwahi ʻana i kēia mau molekala. Ke hōʻiliʻili ʻia kēia mau molekala, ua hōʻino ʻia nā hunaola nerve a nalowale kā lākou hana.
He maʻi hoʻoilina kēia. ʻO ia hoʻi, ua hoʻokumu ʻia e kahi mutation i loko o nā genes i hoʻoilina ʻia mai nā mākua ʻelua. Hiki ke hoʻomaka nā hōʻailona i ka wā pēpē, a i ʻole e ʻike ʻia i ka wā kamaliʻi, a i ʻole ma hope o ke ola. He maʻi kēia no kahi hui i kapa ʻia ʻo lysosomal storage disorders . ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no kēia maʻi i kēia manawa.
He aha nā maʻi mālama lysosomal?
I kēia manawa ke noʻonoʻo nei paha ʻoe, "He aha kēia maʻi mālama lysosomal?" E wehewehe pū kākou i kēlā.
ʻO nā maʻi mālama lysosomal kahi hui o nā maʻi hoʻoilina e hoʻopilikia i kā mākou metabolism. ʻIke ʻoe, ʻo kā mākou metabolism ke kaʻina hana e hoʻololi ai mākou i ka meaʻai a mākou e ʻai ai i ikehu a wehe i nā mea ʻawahia mai ke kino. Aia ma kahi o 50 mau ʻano o nā maʻi mālama lysosomal. No ka laʻana, ʻo ka maʻi Tay-Sachs kekahi o ia mau maʻi.
ʻO "Lysosomal" e pili ana i nā ʻāpana liʻiliʻi i loko o kā mākou mau cell, i kapa ʻia ʻo lysosomes. Aia i loko o kēia mau lysosomes nā protein kūikawā i kapa ʻia ʻo enzymes. Hoʻopau kēia mau enzymes i nā molekala nui e like me nā momona a me nā kō e komo i loko o ko mākou kino a hoʻolilo iā lākou i mau molekala maʻalahi. Eia naʻe, i loko o ke kino o ke kanaka me ka maʻi mālama lysosomal, ʻaʻole hiki i kēia mau enzymes ke hana pono i kēlā hana. A laila, ʻaʻole e haki kēlā mau molekala nui a hōʻiliʻili i loko o nā cell. ʻO ia ke kumu i kapa ʻia ai he "storage disorder."
ʻO nā maʻi mālama lysosomal e like me ka GM1 gangliosidosis he mau maʻi holomua . ʻO ia hoʻi, i ka hōʻiliʻili ʻana o ka nui o kēia mau molekala i loko o ke kino, e lilo mālie nā hōʻailona i mea ʻino.
He aha nā ʻano nui o ka gangliosidosis GM1?
He maʻi hānau ʻia ka gangliosidosis GM1. ʻO ke ʻano kēia, aia ka loli genetic e hoʻoulu ai i ka maʻi i ka wā hānau. Eia nō naʻe, hiki ke lōʻihi ka manawa e ʻike ʻia ai nā hōʻailona. Hoʻokaʻawale nā kauka i ka maʻi e like me ka makahiki i ʻike mua ʻia ai nā hōʻailona. I kekahi manawa hiki ke hoʻopili ʻia nā hōʻailona a me ka manawa o kēia mau ʻano.
ʻEkolu mau ʻano nui:
1. ʻAno pēpē maʻamau (ʻAno 1): Hoʻomaka ka ʻike ʻia ʻana o nā hōʻailona ma kahi o 6 mahina. Lilo koke kēia ʻano i mea koʻikoʻi.
2. ʻŌpio (ʻAno 2 - ʻŌpio): I kēia ʻano, ʻike pinepine ʻia nā hōʻailona ma waena o nā makahiki 1 a me 5. Holo mālie ka maʻi ma mua o ke ʻano mua.
3. Pākeke (ʻAno 3 - Pākeke): Hiki ke hoʻomaka nā hōʻailona i ka wā ʻōpiopio o 3 mau makahiki, a i ʻole a hiki i 30 mau makahiki. ʻOi aku ka lohi o ka holomua o ka maʻi ma mua o nā ʻano ʻelua ʻē aʻe.
Pehea ka maʻamau o kēia maʻi?
He maʻi laha ʻole ka GM1 gangliosidosis. Ma ka honua holoʻokoʻa, hoʻopilikia wale ka maʻi i kahi helu liʻiliʻi loa o ka poʻe, ma kahi o 1 i loko o 100,000 a i ʻole 1 i loko o 200,000 .
He aha ke kumu o ka gangliosidosis GM1?
ʻO ke kumu nui o kēia maʻi he mutation i loko o ka gene GLB1 . Kōkua kēia gene GLB1 i ka hana ʻana i kahi enzyme i kapa ʻia ʻo beta-galactosidase, i loaʻa i loko o kā mākou lysosomes. Hoʻopau kēia enzyme i nā molekala e like me GM1 ganglioside. He mea nui loa kēia molekala ganglioside GM1 no ka hana pono ʻana o nā hunaola nerve i loko o ko mākou lolo.
Ma muli o kēlā loli hoʻoilina, ʻaʻole hiki i ke kino ke wāwahi i ka molekole ganglioside GM1. A laila hoʻomaka mālie kēia mau molekole e hōʻiliʻili i loko o nā ʻiʻo a me nā ʻōpū. Hoʻopilikia kēia i nā ʻāpana o ka ʻōnaehana nerve, ʻoiai ka lolo a me ke kaula spinal .
ʻO wai ka mea i ʻoi aku ka pilikia o ka loaʻa ʻana o kēia maʻi?
No ka loaʻa ʻana o ka GM1 gangliosidosis, pono i ke keiki ke hoʻoilina i ka gene GLB1 i hoʻololi ʻia mai nā mākua ʻelua . I kēia hihia, ʻo nā mākua ʻelua nā mea lawe o ka gene mutation, akā ʻaʻole lākou e loaʻa i ka maʻi. Ua kapa ʻia kēia e nā kauka he maʻi autosomal recessive .
ʻOiai inā he mau mea lawe o ka hoʻololi ʻana o ka gene GLB1 nā mākua ʻelua, hiki i kā lāua mau keiki ke loaʻa i ka maʻi a ʻaʻole paha. Inā loaʻa, e loaʻa pinepine i ke keiki ke ʻano maʻi like i hoʻoilina ʻia e nā hanauna ma mua.
Inā loaʻa i nā mākua ʻelua kēia hoʻololi ʻana o ka gene, loaʻa i kēlā me kēia o kā lāua mau keiki kēia mau manawa kūpono:
- E noho kūʻokoʻa mai ka pilikia o ka maʻi ma ka hoʻoilina ʻole ʻana i ka gene mutated1 i loko o 4 manawa kūpono.
- He 1 i loko o 4 ka manawa e loaʻa ai i ka gangliosidosis GM1 ke loaʻa ʻana o ka maʻi.
- Aia he 1 i loko o 2 ka manawa kūpono e loaʻa ʻole ai ka maʻi, akā no ka lilo ʻana i mea lawe gene.
ʻOiai hiki ke holo kēia hoʻololi genetic i loko o kekahi ʻohana, ʻoi aku ka nui o ka poʻe Kepanī e loaʻa i ka maʻi diabetes type 3 .
He aha nā hōʻailona o ka gangliosidosis GM1?
ʻOkoʻa nā hōʻailona o ka GM1 gangliosidosis ma muli o ke ʻano. Eia kekahi, he mea maʻamau paha kekahi mau hōʻailona i kekahi mau ʻano.
Nā ʻano o ka pēpē maʻamau (ʻAno 1):
- ʻŌpū ʻōpū
- ʻO ka spleen i hoʻonui ʻia a me ke akepaʻa i hoʻonui ʻia
- Pane hoʻohoka nui i nā leo nui
- Poho lohe
- Nā kiko ʻulaʻula ma nā maka a me ka nalowale o ka ʻike
- Ka hoʻi hope ʻana o nā pae hoʻomohala - No ka laʻana, ʻo kahi pēpē i hiki ke minoʻaka a hāpai i ko lākou poʻo i luna ʻaʻole hiki ke hana hou i kēlā mau mea.
- Nā hopu ʻana
- Nā hono paʻakikī a i ʻole nā kūlana ʻole o ka iwi
- Ka leo palupalu o nā ʻiʻo (hypotonia)
Nā ʻano o ka ʻōpio (ʻAno 2):
- ʻAtaxia - nā pilikia hoʻonohonoho a me ke kaulike
- Maʻi Corneal - ao
- Ka paʻakikī i ka moni ʻana (dysphagia)
- Dystonia - nā ʻūlū nui o nā ʻiʻo
- Ka nalowale ʻana o ka hana noʻonoʻo a i ʻole nā mākau noʻonoʻo
- Nā pilikia me ka ʻōlelo (dysarthria)
- Nā hopu ʻana
Nā ʻano o nā mākua (ʻAno 3):
- Ka nāwaliwali o nā ʻiʻo a i ʻole ka atrophy
- Maʻi Corneal - ao
- Nā ʻūmiʻi ʻiʻo (Dystonia)
- Nā ʻeha ʻili ʻaʻole maʻi kanesa
Pehea e ʻike ʻia ai ka gangliosidosis GM1?
Inā loaʻa i kekahi o kou ʻohana ka maʻi, hiki i ka hoʻāʻo prenatal ke kōkua i ka hoʻoholo ʻana inā loaʻa i kāu pēpē i hānau ʻole ʻia ka mutation gene. Hiki ke hana ʻia kēia ma o ka amniocentesis genetic a i ʻole ka hoʻāʻo chorionic villus sampling (CVS). Hiki i kēia ke ʻike i nā cell i loaʻa ka mutation.
Eia kekahi, hana ʻia kēia mau hoʻokolohua e ʻike i kēia maʻi i nā keiki mai nā pēpē a hiki i nā pākeke:
- Hoʻāʻo enzyme: Ke ana kēia i ka nui o ka enzyme beta-galactosidase i loko o kou koko.
- Hoʻāʻo hoʻoilina molekala:He hoʻāʻo koko nō hoʻi kēia. Nānā ia i nā moʻo DNA e ʻike i ka hoʻololi ʻana o ka gene GLB1. ʻIke ʻoe, ʻo ka DNA (deoxyribonucleic acid) ka mea a mākou e hoʻoilina ai mai ko mākou mau mākua mai.
- Nā nānā ʻana i nā keiki hānau hou: Ma kekahi mau ʻāina, ʻo ka nānā ʻana i nā keiki hānau hou maʻamau i nā haukapila e komo pū ana me nā hoʻāʻo enzyme no nā maʻi mālama lysosomal.
He aha nā lāʻau lapaʻau no ka gangliosidosis GM1?
ʻAʻohe lāʻau lapaʻau kūikawā, ʻoki kino, a lāʻau lapaʻau paha no ka gangliosidosis GM1 i kēia manawa . Ke kālele nei ka lāʻau lapaʻau i ka hoʻokele ʻana i nā hōʻailona o ke kanaka a me ka mālama ʻana i kahi ola maikaʻi . No ka laʻana, hiki ke hāʻawi ʻia i kahi kanaka me nā maʻi hopu i kahi papaʻai ketogenic (keto diet) a i ʻole nā lāʻau anticonvulsant e like me gabapentin e kāohi i kā lākou mau maʻi hopu.
Eia nō naʻe, ke hoʻomau nei nā kānaka noiʻi lapaʻau i ka ʻimi ʻana i nā ala hou e mālama ai a pale aku i ka maʻi. Hiki iā ʻoe a i ʻole kāu keiki ke loaʻa ka manawa kūpono e komo i nā hoʻokolohua lapaʻau e hoʻāʻo ana i nā lāʻau lapaʻau hou e kū nei i ka pae noiʻi.
Hiki i kēia mau lāʻau lapaʻau hoʻokolohua ke komo pū me:
- Hoʻonui ʻana i ka enzyme a i ʻole ka lāʻau hoʻololi enzyme
- Lapaʻau Gene
- Nā hoʻoili pūnaewele kumu (i kapa ʻia hoʻi he hoʻoili iwi ʻiʻo)
- ʻO ka lāʻau hoʻemi substrate - Hoʻāʻo kēia e hoʻōki i ke kaʻina hana maʻi ma ka hoʻololi ʻana i nā molekala i hana ʻia.
Hiki ke pale ʻia ka gangliosidosis GM1?
Inā he mea lawe ʻoe i ka gene mutated e hoʻoulu ai i ka GM1 gangliosidosis, hiki iā ʻoe ke kamaʻilio me kahi kākā'ōlelo genetic e kūkākūkā i nā koho e hiki ke hōʻemi i ka manawa e hoʻoilina ai kāu mau keiki i ka gene.
Eia kekahi laʻana, hiki i kahi kaʻina hana i kapa ʻia ʻo Preimplantation Genetic Diagnosis (PGD) ke ʻike i nā embryos i loaʻa ʻole ka gene mutated. A laila hiki i ke kauka ke hoʻoili i kēlā mau embryos olakino i loko o ka ʻōpū me ka hoʻohana ʻana i kahi kaʻina hana i kapa ʻia ʻo In Vitro Fertilization (IVF) . Hiki i ka PGD ke kōkua i ka hōʻoia ʻana ʻaʻole kāu keiki he mea lawe o ka gene a ʻaʻole hoʻi e loaʻa i ka maʻi.
Pehea lā ke ola i ka wā e hiki mai ana no kekahi me kēia maʻi?
ʻOi aku ka ʻino o nā hōʻailona o ka gangliosidosis GM1 i ka hala ʻana o ka manawa. ʻOkoʻa ke ola a me ke ʻano o ke ola o ke kanaka me kēia maʻi ma muli o ke ʻano o ka maʻi:
- Hiki i nā pēpē me ke ʻano 1 (infantile maʻamau)Hiki ke ola ma kahi o 2 mau makahiki.
- Hiki i nā keiki me ke ʻano 2 (ʻōpio) ke ola a hiki i ka wā kamaliʻi a i ʻole ka wā makua mua , ma muli o ka makahiki e hoʻomaka ai nā hōʻailona.
- He pōkole ke ola o ka poʻe me ke ʻano 3 (mākua) . ʻOkoʻa kēia ma muli o ka makahiki e hoʻomaka ai nā hōʻailona, ke ʻano a me ke koʻikoʻi o nā hōʻailona.
Āhea ʻoe e ʻike ai i ke kauka?
Inā loaʻa iā ʻoe a i kāu keiki paha kekahi o kēia mau hōʻailona, e ʻike koke i kāu kauka:
- Nā pilikia kaulike a i ʻole ka hele ʻana
- Ka paʻakikī o ka hanu ʻana, ka moni ʻana a i ʻole ka ʻōlelo ʻana
- Nā loli o ka lohe a i ʻole ka ʻike
- Nā kiko ʻulaʻula ma nā maka
- Nā hopu ʻana
He aha kāu e nīnau ai i kāu kauka?
Hiki paha iā ʻoe ke nīnau i kāu kauka i nā nīnau e like me kēia:
- He aha ke ʻano o ka gangliosidosis GM1 i loaʻa iaʻu (a i ʻole kaʻu keiki)?
- He aha nā lāʻau lapaʻau i loaʻa e hōʻoluʻolu i nā hōʻailona?
- He aha kā mākou e hana ai e hōʻoluʻolu i nā hōʻailona ma ka home?
- He aha ke ʻano o nā loea lapaʻau e pono ai mākou e ʻike?
- Pono anei au e makaʻala i nā hōʻailona o nā pilikia?
- Pono anei e hoʻāʻo ʻia nā lālā ʻē aʻe o koʻu ʻohana no kēia hoʻololi ʻana o ka hoʻoilina?
ʻO ka mea hope loa, leka lawe i ka home
He maʻi laha ʻole ka GM1 gangliosidosis, kahi e hiki ʻole ai i ke kino ke wāwahi i nā molekala momona a me ke kō. No loko ia o kahi hui o nā maʻi mālama lysosomal. Ke hōʻiliʻili ʻia kēia mau molekala, ʻike ʻia nā hōʻailona e like me nā hopu ʻana, nā pilikia kaulike, a me ka paʻakikī i ka moni ʻana.
No ka loaʻa ʻana o ka maʻi, pono ʻoe e hoʻoilina i ka hoʻololi ʻana o ka gene e hoʻoulu ai i ka maʻi mai kou makuahine a me kou makuakāne. Ke kuhikuhi ʻia nei nā lāʻau lapaʻau e hōʻoluʻolu i nā hōʻailona kikoʻī. ʻOiai ʻaʻohe lāʻau lapaʻau i kēia manawa, ke hana ʻia nei nā hoʻokolohua lapaʻau no nā lāʻau lapaʻau hou. Hiki iā ʻoe ke kamaʻilio me kāu kauka e pili ana i nā ala e hōʻemi ai i ka pilikia o ka hoʻoili ʻana i kēia hoʻololi ʻana o ka gene i nā hanauna e hiki mai ana.
He mea maʻamau ka makaʻu a me ka hopohopo ke lohe ʻoe e pili ana i kahi maʻi e like me kēia. Eia nō naʻe, he mea nui e loaʻa ka ʻōlelo aʻoaʻo lapaʻau kūpono a me ke kākoʻo . ʻAʻole ʻoe hoʻokahi, a aia nā kauka a me nā poʻe aloha e kōkua iā ʻoe ma kēia huakaʻi.
ʻO ka gangliosidosis GM1, nā maʻi genetic, nā maʻi mālama lysosomal, nā maʻi neurological, nā maʻi laha ʻole, beta-galactosidase, gene GLB1
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