E noʻonoʻo, me ke kumu ʻole, loaʻa mau iā ʻoe ke kuni, nā hono ʻeha, a me nā ʻōhū liʻiliʻi ma kou kino a puni. Nalo kēia mau mea i loko o ʻelua a ʻekolu paha lā, a laila ʻike hou ʻia. Inā loaʻa kekahi mea e like me kēia iā ʻoe a i kāu keiki paha, ʻo ke kumu paha he maʻi laha ʻole i lohe ʻole ʻia e ka poʻe he nui. I kēia lā ke kamaʻilio nei mākou e pili ana i kekahi maʻi like, ʻo CAPS.
He aha ke ʻano o ka CAPS?
I ka ʻōlelo maʻalahi, ʻo Cryopyrin-Associated Periodic Syndromes, a i ʻole CAPS, he hui o nā maʻi genetic kakaikahi loa e hoʻopilikia i kā mākou ʻōnaehana pale. ʻO ka maʻamau, pale kā mākou ʻōnaehana pale iā mākou mai nā germs a me nā maʻi ʻē aʻe. Eia nō naʻe, i kēia kūlana CAPS, ma muli o kahi kīnā i loko o ka ʻōnaehana pale ponoʻī, hoʻomaka ia e hoʻouka i ko mākou kino ponoʻī. Ua kapa ʻia kēia he 'maʻi autoinflammatory' i ka ʻepekema lapaʻau. Hoʻokumu kēia i ka mumū pono ʻole i loko o ke kino, e hana ana i nā hōʻailona e like me ka ʻili ʻili, ke kuni, ka ʻeha a me ka pehu ʻana o nā hono, a me nā maka ʻulaʻula.
ʻEkolu ʻano nui o nā CAPS. E nānā kākou i ke ʻano o lākou.
| Inoa o ka maʻi | Ka wehewehe a me ke koʻikoʻi |
|---|---|
| ʻO ka maʻi hoʻoulu anu ʻohana (FCAS) | ʻO kēia ka mea ʻoi aku ka liʻiliʻi o ke koʻikoʻi o nā ʻano ʻekolu o ka maʻi. E like me ka inoa e hōʻike nei, hoʻāla ʻia nā hōʻailona e ka ʻike ʻana i ke anu. ʻO nā hōʻailona nui ka wela, ka ʻeha o nā hono, a me nā ʻeha ʻili. ʻAʻole ia e hōʻeha i ke kino i ka wā lōʻihi. |
| ʻO ka maʻi Muckle-Wells (MWS) | He ʻoi aku ka koʻikoʻi o kēia ma mua o FCAS. Hiki ke hoʻāla ʻia nā hōʻailona ʻaʻole wale e ke anu, akā, e ke kaumaha a me ka hoʻoikaika kino pū kekahi. Hiki ke koʻikoʻi nā hōʻailona, a hiki i kekahi poʻe ke loaʻa i ka nalowale o ka lohe . |
| ʻO ka maʻi mumū multisystem neonatal onset (NOMID) | ʻO kēia ka maʻi koʻikoʻi loa a kakaikahi loa o kēia hui maʻi.ʻAno. Hoʻomaka kēia i ka wā e hānau ʻia ai ke keiki. Hoʻoulu ia i ka mumū ma nā ʻāpana he nui o ke kino. Ua kapa ʻia hoʻi ʻo CINCA. Inā ʻaʻole mālama pono ʻia, hiki iā ia ke hōʻeha nui i ka lolo, nā maka, a me nā ʻāpana ʻē aʻe . |
He aha ke kumu o CAPS?
ʻO ke kumu nui o kēia, ʻo ia ka loli ʻana o kahi gene i loko o ko kākou kino. I ka pololei, ua hoʻokumu ʻia kēia maʻi e kahi mutation i loko o ka gene i kapa ʻia ʻo `NLRP3` .
E noʻonoʻo i kēia gene 'NLRP3' ma ke ʻano he kiʻi hoʻolālā e kuhikuhi ana i ko mākou kino e hana i kahi protein i kapa ʻia ʻo 'cryopyrin'. ʻO ka maʻamau, kōkua kēia protein 'cryopyrin' i ko mākou kino e hana i kahi mea i kapa ʻia ʻo 'interleukin-1 (IL-1)', kahi e kōkua ai i ko mākou kino e hakakā i nā maʻi.
Akā, no ka mea, ua loli ke ʻano o ka gene `NLRP3` i loko o ke kanaka me CAPS, ʻaʻole hana pono ka protein `cryopyrin`. Hoʻomaopopo mau ia i ke kino e hana i ka nui o ka `IL-1`. ʻO kēia hana nui ʻana o `IL-1` ke kumu o ka mumū pono ʻole i loko o ke kino a ke kumu o nā hōʻailona o CAPS.
Hiki ke loaʻa kēia maʻi inā loaʻa i ke keiki ka gene i hoʻololi ʻia mai hoʻokahi makua wale nō, ʻo ka makuahine a i ʻole ka makuakāne. I kekahi manawa, hiki ke loli koke ka gene i loko o ka ʻōpū, me ka ʻole o nā mākua.
He aha nā hōʻailona?
ʻO ka hōʻailona nui a maʻamau o CAPS he ʻōhū e ʻike ʻia me he mau pehu liʻiliʻi, ʻaʻole maneʻo ma ke kino holoʻokoʻa . ʻIke pinepine ʻia kēia i ka wā hānau. Loaʻa mau kēia mau ʻeha i kekahi poʻe, akā lilo lākou i ʻoi aku ka koʻikoʻi i ka wā o ka lapalapa ʻana. ʻOkoʻa nā hōʻailona ʻē aʻe ma muli o ke ʻano o CAPS āu e loaʻa ai.
Nā hōʻailona i ʻike ʻia ma FCAS
ʻO ka maʻamau, mau kēia mau hōʻailona no 1-2 mau lā.
- kuni
- Nā maka pehu
- Anuanu
- ʻEha hui
- Ka luaʻi
- ʻEha poʻo
Nā hōʻailona i ʻike ʻia ma MWS
Hele mai kēia mau hōʻailona a hele aku. Hiki iā lākou ke mau no 1-3 mau lā i ka manawa.
- ʻŌhū ʻili
- Kuni a me nā anu
- ʻUlaʻula o nā maka
- ʻEha hui
- ʻEha poʻo nui
- ʻO ka nalowale o ka lohe (hiki i nā keiki me MWS ke nalowale i ko lākou lohe āpau a i ʻole kekahi hapa i ka wā e hiki ai lākou i ka wā makua)
- ʻeha ka ʻōpū
Nā hōʻailona i ʻike ʻia ma NOMID
ʻO kēia nā hōʻailona koʻikoʻi loa.
- ʻEha poʻo nui
- Nā maka ʻōhū
- ʻEha a me ka pehu ʻana o nā hono
- Ka luaʻi ʻana
- Ka nalowale o ka ʻike
- Poho lohe
Mea nui: Inā ʻaʻole mālama pono ʻia ʻo NOMID, hiki i kahi protein i kapa ʻia ʻo amyloid ke waiho i loko o nā ʻōpū koʻikoʻi e like me nā puʻupaʻa a me nā hono, e hōʻeha nui ana i ka hala ʻana o ka manawa.
Pehea e ʻike ai i ka maʻi?
Ke ʻike ʻoe i kāu kauka me kēia mau hōʻailona, e nīnau mua ʻo ia iā ʻoe e pili ana i kou mōʻaukala olakino a me kou ʻohana. A laila, e nānā lākou iā ʻoe a, inā pono, e kuhikuhi paha iā ʻoe no kekahi mau hoʻokolohua, e like me:
- Nā hoʻāʻo koko a me ka mimi: Ke nānā nei kēia mau hoʻokolohua i nā pae kiʻekiʻe o nā keʻokeʻo koko keʻokeʻo a me ka protein C-reactive, he mau hōʻailona ia o ka mumū, a no ka nui o ka protein i loko o ka mimi.
- Biopsy ʻili: Lawe ʻia kahi ʻāpana liʻiliʻi loa o kou ʻili a nānā ʻia ma lalo o kahi microscope.
- Hoʻāʻo hoʻoilina: Hiki i kēia hoʻāʻo ke hōʻoia inā he mutation kou i kāu gene NLRP3. Eia nō naʻe, i kekahi manawa hiki i ka poʻe me CAPS ke loaʻa kēia gene ma ke ʻano maʻamau.
- Nā hoʻāʻo maka a me ka pepeiao: Hana ʻia kēia mau hoʻāʻo e ʻike inā ua pilikia kou ʻike a lohe paha.
- ʻUku lumbar: Lawe ʻia kahi liʻiliʻi o ka wai o ka iwi kuamoʻo mai ke kaula iwi kuamoʻo a nānā ʻia no nā hōʻailona o ka mumū.
- MRI scan: Hiki i kēia ke kiʻi i nā kiʻi kikoʻī o nā ʻano i loko o ka lolo a me nā pepeiao e ʻike ai inā he mau loli.
Nā nīnau e nīnau aku ai i ke kauka
He manaʻo maikaʻi ke kākau i kekahi mau nīnau āu ma ka pepa ke hele ʻoe e ʻike i ke kauka. Ma kēlā ala, ʻaʻole ʻoe e poina i kekahi mea. Hiki iā ʻoe ke nīnau i nā nīnau e like me kēia:
- He aha ke ʻano o nā CAPS aʻu (a i ʻole kaʻu keiki) e loaʻa ai?
- He aha nā hōʻailona e hiki ai i koʻu ʻano maʻi ke hana?
- He aha nā lāʻau lapaʻau āu e ʻōlelo mai nei? Pehea lākou e kōkua ai iaʻu?
- Aia kekahi mau hopena ʻaoʻao o ka lāʻau lapaʻau?
- He aha kaʻu e hana ai ma ka home e hōʻemi i nā hōʻailona?
- He aha nā hoʻokolohua hou aʻu e pono ai e hana? Āhea wau e hana ai iā lākou?
- Pono anei iaʻu e ʻike i kahi kākā'ōlelo genetic?
He aha nā lāʻau lapaʻau?
He mea nui loa ka hoʻomaka ʻana i ka lāʻau no kēia maʻi i ka wā hikiwawe loa, no ka mea, i ka wā e hōʻino ʻia ai nā maka, nā pepeiao, nā iwi, a i ʻole ka lolo, he mea paʻakikī loa ke hoʻihoʻi iā lākou i ka maʻamau.
ʻO ka lāʻau lapaʻau nui, ʻo ia nā lāʻau lapaʻau e ālai ana i ka hana nui ʻana o ke kino i kahi mea i kapa ʻia ʻo IL-1. Hoʻomalu kēia i ka mumū.
- ʻAnakinra (Kineret)
- ʻO Canakinumab (Ilaris)
- ʻO Rilonacept (Arcalyst)
Ma waho aʻe o kēia mau mea, hiki i kāu kauka ke ʻōlelo i nā lāʻau lapaʻau ʻē aʻe, e like me:
- Ke kau nei i nā splints no ka ʻeha a me ka pehu ʻana o nā hono
- Hoʻōla kino
- Nā lāʻau lapaʻau e like me NSAID, steroids, a i ʻole methotrexate e hōʻemi i ke kuni a me ka mumū
- Nā mea kōkua lohe no ka poʻe lohe ʻole
- ʻO ke ʻoki kino inā ua hōʻino ʻia nā hono
Pehea ʻoe e mālama ai iā ʻoe iho?
Me ka lāʻau lapaʻau, hiki i ka hana ʻana i nā loli liʻiliʻi i kou nohona ke hele lōʻihi i ka kaohi ʻana i nā hōʻailona.
- E pale i ke anu: Inā loaʻa iā ʻoe kahi maʻi e like me FCAS, hiki i ke anuanu ke hoʻonui i kou mau hōʻailona. No laila e hoʻāʻo e noho mamao mai nā mea e like me ka noho ʻana i loko o nā lumi AC a me ka noho ʻana i nā wahi anu.
- E hōʻemi i ke kaumaha: Hiki i nā mea e like me ka noʻonoʻo ʻana, nā hoʻomaʻamaʻa hanu hohonu, a me ka yoga ke kōkua nui i kēia.
- Ola olakino:
- Hiamoe maikaʻi.
- E ʻai i ka meaʻai momona.
- E hōʻalo i ka puhi paka, ka waiʻona, a me nā meaʻai i hana ʻia.
Leka Lawe-Home
- He maʻi laha ʻole ʻo CAPS, he maʻi genetic i hoʻokumu ʻia e kahi kīnā i loko o ka ʻōnaehana pale.
- ʻO kona mau hōʻailona nui ka wela e hoʻi hou ana, nā ʻeha ʻili me ka ʻole o ka maneʻo, a me ka ʻeha o nā hono.
- Hoʻokumu ʻia kēia e kahi mutation i loko o ka gene i kapa ʻia ʻo
NLRP3. - He mea nui e ʻike koke i ka maʻi a hoʻomaka i ka lāʻau lapaʻau e pale aku i ka hōʻino mau loa ʻana i nā maka, nā pepeiao, a me nā ʻōpū ʻē aʻe.
- Inā loaʻa iā ʻoe a i kāu keiki paha kekahi o kēia mau hōʻailona, mai hoʻowahāwahā iā lākou a e nīnau koke aku i kāu kauka no ka ʻōlelo aʻo.
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