Ke ʻike nei ʻoe i kekahi manawa i ka mae ʻana o kou mau lālā? Loaʻa iā ʻoe ka ʻeha o ka ʻōpū a i ʻole ka poniuniu ke kū ʻoe i luna? ʻOiai ke ʻano o kēia mau mea he mau mea maʻamau, i kekahi manawa ʻo ka mea i hūnā ʻia ma hope o kēia he maʻi laha ʻole i lohe ʻole ʻia e ka poʻe he nui, a ua hoʻoili ʻia i nā hanauna. I kēia lā e kamaʻilio mākou e pili ana i kekahi o ia mau maʻi, ʻo ia hoʻi ka hATTR amyloidosis . ʻOiai he kumuhana paʻakikī kēia, e hoʻomaopopo maʻalahi kākou.
He aha ka hATTR Amyloidosis?
I ka ʻōlelo maʻalahi, ʻo ka hATTR (Hereditary Transthyretin Amyloidosis) he maʻi laha ʻole ia i hoʻoili ʻia mai kēlā hanauna a i kēia hanauna a e ʻoi mālie ana ka ʻino i ka hala ʻana o ka manawa. ʻO ke kumu he loli i loko o kā mākou mau genes, i kapa ʻia he mutation.
E noʻonoʻo ʻoe ua hoʻomalu ʻia nā mea āpau i loko o ko kākou kino e nā genes. Aia kekahi gene i kapa ʻia ʻo TTR i loko o ko kākou ake. Ke loaʻa kahi mutation i loko o kēia gene, ʻo ka protein i kapa ʻia ʻo 'transthyretin' i hana ʻia e ia e lawe pū i kahi ʻano kūpono ʻole a hewa.
Hoʻopili pū kēia mau protein ʻano ʻē a hana i nā waihona i kapa ʻia ʻo ' amyloid ' i loko o nā aʻalolo o ko mākou kino a me nā ʻano kino like ʻole. E like me ka lepo a me ka ʻōpala e pani ana i ka paipu wai, hōʻino kēia mau waihona amyloid i kēlā mau ʻano kino.
ʻO kēia kūlana ke kumu o ka polyneuropathy, ʻo ia hoʻi ka hōʻino ʻana i nā aʻalolo e holo ana mai ka lolo a i nā ʻāpana ʻē aʻe o ke kino. ʻOiai he kūlana koʻikoʻi kēia, me ka mālama pono ʻana, hiki ke hoʻomalu ʻia nā hōʻailona a hiki ke hoʻomau ʻia ke ola.
He aha nā hōʻailona o ka maʻi hATTR?
Ma muli o ka hoʻopilikia ʻana o ka maʻi hATTR i nā ʻōkana he nui i loko o ke kino, ʻokoʻa loa nā hōʻailona. I kekahi manawa ua like kēia mau hōʻailona me nā maʻi maʻamau ʻē aʻe, no laila hiki ke paʻakikī ke ʻike i ka maʻi.
E nānā i ka papa ma lalo no ke ʻano o kēia mau hōʻailona .
| ʻŌnaehana/ʻōkana i hoʻopilikia ʻia | Nā hōʻailona hiki ke loaʻa |
|---|---|
| ʻŌnaehana Aʻalolo | ʻO ka maneʻo, ke kani ʻana, ka ʻeha, a laila nalowale ka ʻike ma nā lima a me nā wāwae. Carpal Tunnel Syndrome. Paʻakikī i ka hele wāwae. |
| Puʻuwai a me ke Kaʻapuni | Puʻuwai kūpono ʻole, puʻuwai nui, hōʻeha puʻuwai. Haʻahaʻa ke koko a me ka maule ʻana i ke kū ʻana. |
| ʻŌnaehana Hoʻoheheʻe | Ka maʻi pākīkī a me ka paʻa ʻana me ke kumu ʻole. Manaʻo piha ʻoiai ma hope o ka ʻai iki ʻana. Pohō kaumaha. |
| Nā puʻupaʻa a me ka ʻōnaehana mimi | Paʻakikī i ka mimi. Hana ʻino o nā puʻupaʻa. |
| Nā maka | Nā maka maloʻo, hoʻonui ʻia ke kaomi o ka maka (glaucoma), ʻike maka pōwehiwehi. |
E hoʻomanaʻo, he nui o kēia mau hōʻailona e hiki ke hoʻoweliweli i ke ola, ʻoiai nā pilikia o ka puʻuwai. No laila, inā loaʻa iā ʻoe kekahi o kēia mau hōʻailona, ʻoiai inā ua loaʻa i kekahi o kou ʻohana kēia maʻi, e ʻike koke i ke kauka.
Pehea e ʻike ʻia ai ka maʻi hATTR?
No ka mea, he mea kākaʻikahi kēia maʻi a ua like nā hōʻailona me nā maʻi ʻē aʻe, hiki ke paʻakikī iki ka ʻike ʻana. Akā, ke nānā nei ke kauka i kekahi mau mea.
- Moʻolelo lapaʻau ʻohana : E nīnau inā ua loaʻa i kekahi o kou ʻohana nā hōʻeha puʻuwai, mānoanoa o nā ʻiʻo puʻuwai, a i ʻole nā maʻi neurological ʻē aʻe.
- Ke nīnau ʻana e pili ana i nā hōʻailona: Ke nīnau nei inā loaʻa iā ʻoe nā hōʻailona i ʻōlelo ʻia ma luna.
- Hoʻāʻo ʻana i ka Genetic: Hoʻāʻo ʻia kahi hāpana koko a i ʻole kahi hāpana ʻili e ʻike ai inā he mutation i loko o ka gene TTR. ʻO kēia ke ala maopopo loa e hōʻoia ai i ka maʻi.
- Biopsy ʻIʻo: Lawe ʻia kahi liʻiliʻi o ka momona mai lalo o ka ʻili o ka ʻōpū me kahi nila liʻiliʻi a nānā ʻia ma lalo o kahi microscope e ʻike inā he mau waihona amyloid. Mai hopohopo, ʻaʻole kēia he hana nui a hiki ke hana koke ʻia.
- Nā hoʻokolohua ʻē aʻe:Hiki ke hana ʻia nā hoʻāʻo koko a me ka mimi, nā hoʻāʻo hana aʻalolo, a me nā hoʻāʻo e like me ECG a me Echo e nānā i ka hana o ka puʻuwai.
He aha nā lāʻau lapaʻau no ka hATTR?
ʻElua mau pahuhopu nui i ka mālama ʻana i ka maʻi hATTR. ʻO kekahi, ʻo ia ke kāohi i nā hōʻailona, a ʻo kekahi, ʻo ia ka hōʻemi a i ʻole ke kāohi ʻana i ka hana ʻana a me ka waiho ʻana o ka protein hewa i loko o ke kino.
Lapaʻau no nā hōʻailona
- Hāʻawi ʻia ka lāʻau lapaʻau no nā pilikia o ka puʻuwai a me ka hōʻiliʻili ʻana o ka wai i loko o ke kino .
- Hāʻawi ʻia nā lāʻau lapaʻau no nā pilikia o ka ʻōnaehana hoʻoheheʻe e like me ka maʻi pākī a me ka paʻa ʻana o ka ʻōpū.
- Hoʻohana ʻia nā lāʻau lapaʻau e kāohi i ka ʻeha o ke aʻalolo.
Lapaʻau i kuhikuhi ʻia i ke kumu o ka maʻi
ʻO kēia nā lāʻau lapaʻau nui e hiki ke hoʻololi i ke ala o ka maʻi.
- Nā Lāʻau Hoʻopau i ka Leo o ka Gene: Hana kēia mau lāʻau ma ke kāohi ʻana i ka gene TTR i loko o ke akepaʻa mai ka hana ʻana i ka protein hewa. ʻO 'Inotersen', 'Patisiran', 'Vutrisiran' kekahi o kēia mau lāʻau. Loaʻa kekahi o kēia mau mea ma ke ʻano he inikini hebedoma, aʻo kekahi e hāʻawi ʻia ma ke ʻano intravenous i kēlā me kēia 3 pule.
- Nā Lāʻau Hoʻopaʻa Gene: Hana kēia mau lāʻau ma ka pale ʻana i ka protein TTR i pelu hewa ʻia mai ka hui pū ʻana a me ka hana ʻana i nā waihona amyloid. ʻO 'Tafamidis' lāua ʻo 'Diflunisal' nā lāʻau lapaʻau o kēia papa.
- Hoʻoili ʻAke: ʻOiai ua hana ʻia ka protein hewa i loko o ke ake, hiki i ka hoʻoili ʻana o ke ake ke kāohi nui i ka laha ʻana o ka maʻi. Eia naʻe, he ʻoki kino nui kēia. A kūleʻa wale nō ia i nā pae mua o ka maʻi.
ʻO ka hui lapaʻau e kōkua iā ʻoe
Ma muli o ka hoʻopilikia ʻana o kēia maʻi i nā ʻāpana he nui o ke kino, pono ʻoe i ke kōkua o nā loea he nui.
| Kauka loea | ʻO ke kōkua a lākou e loaʻa ai |
|---|---|
| Kauka lapaʻau noʻonoʻo | No ka mālama ʻana i ka hōʻino ʻana o nā aʻalolo a me ka ʻeha. |
| Kauka Puʻuwai | E nānā i nā hopena ma ka puʻuwai a hāʻawi i ka lāʻau e pono ai. |
| Kauka Nephrologist | No ka nānā ʻana i ka hana o nā puʻupaʻa a kōkua iā ia e pale aku. |
| Kākā'ōlelo Hoʻoilina | E wehewehe pehea e pili ai kēia maʻi iā ʻoe a me kou ʻohana. |
| Kauka Lapaʻau Kino | E hoʻolako i nā hoʻoikaika kino e hōʻoluʻolu i nā pilikia hele wāwae a me nā neʻe ʻana o ke kino. |
Leka Lawe-Home
- He maʻi hoʻoilina koʻikoʻi ka hATTR e ʻoi aʻe ka ʻino i ka hala ʻana o ka manawa.
- Inā loaʻa iā ʻoe nā hōʻailona e like me ka mae ʻana o kou mau lālā, ka maʻi puʻuwai, a i ʻole ka ʻeha o ka ʻōpū, ʻoiai inā ua loaʻa i kekahi o kou ʻohana kēia maʻi, mai lawe māmā iā ia.
- ʻO ka wikiwiki o ka ʻike ʻia ʻana o kēia maʻi, ʻoi aku ka maikaʻi o nā hopena o ka lāʻau.
- I kēia manawa, aia nā lāʻau lapaʻau a me nā lāʻau lapaʻau kūpono loa e kāohi ai i kēia maʻi. No laila, ʻaʻohe pono e makaʻu.
- Inā he mau nīnau kāu e pili ana i kēia maʻi, mai makaʻu e kamaʻilio me kāu kauka.
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