Ke manaʻo nei ʻoe i kekahi manawa ua lohi iki kāu keiki liʻiliʻi i ka ulu ʻana? A i ʻole he ʻokoʻa iki kona helehelena a me ke ʻano o kona kino mai nā keiki ʻē aʻe o kona mau makahiki? I kekahi manawa, ma hope o kēia mau mea, aia paha kahi maʻi kakaikahi a mākou i lohe ʻole ai. I kēia lā, ke kamaʻilio nei mākou e pili ana i kahi maʻi i ʻike ʻole ʻia e ka poʻe he nui, akā he mea nui loa ia no mākou ma ke ʻano he mau mākua e makaʻala. ʻO ia ka Hunter Syndrome.
I ka ʻōlelo maʻalahi, he aha ka Hunter Syndrome?
He maʻi laha ʻole ka maʻi Hunter, he maʻi hoʻoilina. ʻO kēia ka wā hiki ʻole i ke kino o kāu keiki ke wāwahi pono a hoʻoheheʻe i kekahi mau molekala kō paʻakikī. E noʻonoʻo iā ia e like me nā lio hana liʻiliʻi i loko o ko mākou kino, a mākou e kapa nei he enzymes. ʻO kā lākou hana ka wāwahi a hoʻomaʻemaʻe i nā mea e komo mai ana i loko o ko mākou kino, nā mea a mākou e pono ʻole ai.
Ua hānau ʻia ke keiki me ka maʻi Hunter me kahi liʻiliʻi loa o ka enzyme e pono ai e wāwahi i kahi ʻano kūikawā o ka mole kō. No laila he aha ka mea e hana ʻia? ʻO kēlā mau mole kō i hiki ʻole ke wāwahi ʻia e hoʻomaka mālie e hōʻiliʻili i loko o nā ʻōpū a me nā ʻiʻo o ke keiki. E like me ka ʻōpala i wehe ʻole ʻia, hōʻiliʻili ia. I ka hala ʻana o ka manawa, hiki i kēia hōʻiliʻili ke hōʻino i ka ulu kino a me ka noʻonoʻo o ke keiki.
Ua māhele nā kauka i kēia maʻi i ʻelua mau ʻāpana nui:
1. ʻAno hōʻailona koʻikoʻi: ʻO kēia ke ʻano maʻamau (ma kahi o 60%). Holo wikiwiki nā hōʻailona o kēia mau keiki, a ua hoʻopilikia ʻia hoʻi ko lākou hiki ke noʻonoʻo. ʻO ka maʻamau, i ka makahiki 6-8, hoʻomaka ke keiki e loaʻa nā pilikia me nā hana maʻamau.
2. ʻAno akahai: Hōʻike lohi nā hōʻailona . ʻAʻole i hoʻopilikia nui ʻia ka naʻauao o ke keiki.
No loko kēia maʻi o kahi hui o nā maʻi i kapa ʻia ʻo mucopolysaccharidoses. ʻO ia ke kumu i kapa ʻia ai ʻo Hunter syndrome ʻo mucopolysaccharidosis type II (MPS II) .
Pehea ka maʻamau o kēia maʻi? ʻO wai ka mea e loaʻa pinepine ai?
He maʻi laha ʻole kēia. Eia kekahi, hoʻopilikia nui ia i nā keikikāne . Wahi a nā helu helu, ma kahi o hoʻokahi i kēlā me kēia 100,000 a 170,000 mau keikikāne i hānau ʻia ua ʻike ʻia me kēia maʻi.
Eia nō naʻe, hiki i nā kaikamahine ke lilo i mea lawe i ka gene kīnā ʻole e hoʻoulu ai i ka maʻi. I ka ʻōlelo maʻalahi, he ʻelua mau chromosome X ko ke kaikamahine, a hoʻokahi wale nō ko ke keikikāne. No laila, inā loaʻa i ke kaikamahine ka chromosome X kīnā ʻole, hiki i kāna chromosome X olakino ʻē aʻe ke hana i ka enzyme āna e pono ai. Akā inā loaʻa i ke keikikāne ka chromosome X kīnā ʻole, ʻaʻohe ona koho ʻē aʻe a loaʻa nā hōʻailona.
He aha nā hōʻailona o kēia maʻi?
Hoʻomaka pinepine nā hōʻailona e ʻike ʻia i loko o kahi keiki ma waena o 2 a me 4 mau makahiki. Hiki ke ʻokoʻa kēia mau hōʻailona mai kēlā keiki a kēia keiki. ʻOi aku ka liʻiliʻi o nā hōʻailona o kekahi mau keiki, aʻo kekahi he nui aʻe.
| Hōʻailona | Wehewehena |
|---|---|
| ʻAno kino | Nā hiʻohiʻona o ka helehelena ʻāpiki (nā puka ihu mānoanoa, nā lehelehe, a me ke alelo), he poʻo i ʻoi aku ka nui ma mua o ka awelika, ka umauma ākea, a me ka ʻāʻī pōkole. |
| Nā hono a me nā iwi | ʻOʻoleʻa i nā hono o nā lālā, paʻakikī i ke kūlou ʻana. |
| Ka ulu ʻana | Ka lohi o ka ulu ʻana. Ua pau a lohi paha ka ulu ʻana o ke kiʻekiʻe, ʻoiai ma hope o 5 mau makahiki. |
| Hoʻolohe | Hoʻonāwaliwali mālie ka lohe. |
| Nā kino kūloko | Ka hoʻonui ʻia ʻana o ke akepaʻa a me ka spleen (ka puka ʻana o ka ʻōpū). |
| ʻIli a me nā niho | Ke ʻano o nā puʻupuʻu keʻokeʻo ma ka ʻili. Ka lohi o ka ulu ʻana o nā niho a i ʻole nā hakahaka nui ma waena o nā niho. |
No ke aha lā e kū mai ai kēia maʻi?
Hoʻokumu ʻia kēia e kahi mutation i loko o ka gene IDS . ʻO ka gene IDS ke kuleana no ka kaohi ʻana i ka hana ʻana o kahi enzyme i kapa ʻia ʻo iduronate 2-sulfatase (I2S), ka mea e pono ai ko mākou kino.
Hoʻopau kēia enzyme I2S i nā molekala kō paʻakikī i kapa ʻia ʻo glycosaminoglycans (GAGs). ʻAʻole hana iki nā keiki me ka maʻi Hunter (MPS II) i kēia enzyme I2S, a i ʻole hana ia i nā nui liʻiliʻi loa.
ʻO kēia ke kumu o ka hōʻiliʻili ʻana o nā mole kō i kapa ʻia ʻo GAGs i loko o nā lysosomes, ʻo ia nā kikowaena hana hou o nā cell. Ua like nā Lysosomes me nā kikowaena hana hou o nā cell. ʻO nā maʻi e kū mai ana ma muli o ka hōʻiliʻili ʻana o nā mea i loko o nā lysosomes ua kapa ʻia hoʻi he mau maʻi mālama lysosomal . I ka hala ʻana o ka manawa, hōʻino kēia mau hōʻiliʻili i nā ʻōpū o ke kino.
He aha nā pilikia ʻē aʻe e hiki ke hana ma muli o kēia maʻi?
Ma muli o ke koʻikoʻi o ka maʻi, hiki i ke keiki ke loaʻa nā pilikia like ʻole. Hoʻohana nā kauka i nā lāʻau lapaʻau a i kekahi manawa ʻoki kino e mālama i kēia mau pilikia.
ʻO ka mea nui, ʻaʻole e loaʻa i nā keiki āpau kēia mau pilikia a pau. No laila, mai hopohopo. He mea nui e hoʻomau i ka launa pū ʻana me ke kauka a kiaʻi pono i kāu keiki.
| Ka pilikia | Wehewehena |
|---|---|
| Paʻakikī ka hanu ʻana | Hiki i ka mānoanoa o nā ʻiʻo ea ke ālai i nā ea. |
| Maʻi puʻuwai | Hiki ke hōʻino ʻia nā kiwikā o ka puʻuwai. |
| Nā pilikia iwi a me nā hono | Hiki ke loaʻa nā ʻano kīnā i nā iwi a me nā hono. |
| Hana o ka lolo | I nā hihia koʻikoʻi o ka maʻi, hiki ke hoʻopilikia ʻia ka hana o ka lolo. |
| Nā pilikia ʻē aʻe | Hiki ke hana i ka maʻi carpal tunnel, hernias, hopu ʻana, a me nā pilikia halihali. |
Pehea e ʻike ai i ka maʻi?
E hana ke kauka o kāu keiki i kekahi mau hoʻokolohua e ʻike ai i kēia maʻi.
- Hoʻāʻo mimi: Nānā kēia i nā pae kiʻekiʻe loa o nā mole kō (GAGs) a mākou i kamaʻilio ai ma mua i loko o ka mimi.
- Nā hoʻāʻo koko: Hiki i kēia ke hoʻoholo inā haʻahaʻa a ʻaʻohe paha ka hana o ka enzyme pili i loko o ke koko.
- Ka hoʻāʻo ʻana i ka genetic: Hana ʻia kēia hoʻāʻo e hōʻoia inā aia ka mutation genetic e kumu ai ka maʻi.
Pehea e mālama ʻia ai?
ʻAʻohe lāʻau lapaʻau no ka maʻi Hunter i kēia manawa . Eia nō naʻe, aia nā lāʻau lapaʻau e kāohi i ke ala o ka maʻi, ʻike i nā pilikia i ka wā hikiwawe loa, a hoʻomaikaʻi i ke ʻano o ke ola o ke keiki.
ʻO ka lāʻau lapaʻau maikaʻi loa no kēia, ʻo ia ka Enzyme Replacement Therapy (ERT) . Pili kēia i ka hana ʻana i ka enzyme i nele i ke kino a hāʻawi iā ia i ke keiki. Ua kapa ʻia kēia lāʻau lapaʻau ʻo idursulfase (Elaprase®) . Hāʻawi pinepine ʻia kēia lāʻau lapaʻau ma ke ʻano intravenous i hoʻokahi manawa i ka pule.
Eia kekahi, ke hana ʻia nei ka noiʻi ʻana e pili ana i ka gene therapy a puni ka honua, a aia ka manaʻolana e alakaʻi ia i nā lāʻau lapaʻau maikaʻi aʻe i ka wā e hiki mai ana.
He aha kāu e ʻōlelo ai e pili ana i ka wā e hiki mai ana o ke keiki?
Ua ʻike au he nīnau paʻakikī loa kēia e nīnau. I nā hihia koʻikoʻi o ka maʻi, hiki ke pōkole ke ola o ke keiki. ʻO ka maʻamau ma waena o 10 a me 20 mau makahiki. Eia nō naʻe, hiki i nā keiki me nā hōʻailona liʻiliʻi ke ola a hiki i ka wā makua.
ʻO ka mea nui loa, hiki i ka lāʻau lapaʻau ke kōkua i kāu keiki e hoʻokele i nā pilikia a lākou e kū nei a hoʻomaikaʻi i ko lākou ola. No laila, mai hoʻopau i ka manaʻolana.
Nā nīnau e nīnau aku ai i kāu kauka
Inā ua ʻike ʻia ʻoe me kēia maʻi i kāu keiki, he mea maʻamau ka loaʻa ʻana o nā nīnau he nui i loko o kou manaʻo. E nīnau pono i kāu kauka e pili ana i kēia mau mea.
- He ʻano koʻikoʻi a ʻoluʻolu paha kēia o ka maʻi?
- He aha ke kūlana o kaʻu keiki i ka wā pōkole a me ka wā lōʻihi?
- Pehea lā e pili ai kēia maʻi i ke ola o kaʻu keiki?
- He aha nā koho lapaʻau?
He mea maʻamau no ka ʻohana ke haʻalulu a kaumaha ke lohe lākou e pili ana i kahi maʻi e like me kēia. E hoʻomanaʻo ʻaʻole ʻoe hoʻokahi i kēia manawa. E kamaʻilio me kāu kauka, ʻohana, a me nā hoaaloha pili e pili ana i kēia. Pono kākou a pau e hana pū e hāʻawi i kāu keiki i ka mālama maikaʻi loa.
Leka Lawe-Home
- He maʻi laha ʻole ka Hunter syndrome, he maʻi hoʻoilina ia e pili nui ana i nā keikikāne.
- Hoʻokumu ʻia kēia maʻi e ka nele o kahi enzyme kūikawā i loko o ke kino, e hōʻiliʻili ana kekahi mau molekala kō i loko o ke kino a hōʻino i nā ʻōkana.
- Hoʻomaka pinepine nā hōʻailona ma waena o nā makahiki 2-4. ʻO nā hōʻailona nui ka lohi o ka ulu ʻana, nā loli o ka helehelena, a me ka ʻoʻoleʻa o nā hono.
- ʻOiai ʻaʻohe lāʻau lapaʻau piha no kēia, hiki i nā lāʻau lapaʻau e like me ka enzyme replacement therapy (ERT) ke kaohi i nā hōʻailona a hoʻomaikaʻi i ke ola o ke keiki.
- Inā ʻike ʻoe i kekahi mau ʻano ʻē i ka ulu ʻana o kāu keiki, e ʻike koke i kāu kauka. He mea nui loa ka ʻike mua ʻana no ka mālama ʻana.
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