ʻEha nui ka ʻōpū a me ka nalowale o ka ʻike no ke kumu ʻole ... E aʻo kākou e pili ana i kēia maʻi laha ʻole? (Acute Hepatic Porphyria)

E noʻonoʻo, me ke kumu ʻole, loaʻa koke iā ʻoe kahi ʻeha ʻōpū hiki ʻole ke hoʻomanawanui. Me kēlā, mae kou mau lālā, manaʻo ʻoe e like me ʻoe e hāʻule ana, a manaʻo ʻoe ua luaʻi. ʻOiai ma hope o ka ʻike ʻana i kekahi mau kauka a me ka hana ʻana i nā hoʻokolohua he nui, ʻaʻole hiki ke loaʻa ke kumu pololei o ka maʻi. Ua loaʻa anei iā ʻoe a i ʻole kekahi āu i ʻike ai kēia ʻike? Malia paha ʻo ke kumu he ʻano genetic kakaikahi loa i lohe ʻole ʻia e ka poʻe he nui ma ko mākou ʻāina. I kēia lā e kamaʻilio mākou e pili ana i kekahi o ia ʻano, ʻo Acute Hepatic Porphyria , a i ʻole AHP.

I ka ʻōlelo maʻalahi, he aha ka Acute Hepatic Porphyria (AHP)?

He maʻi hoʻoilina laha ʻole ka AHP e hoʻopilikia ana i ko kākou ʻōnaehana nerve a i kekahi manawa i ko kākou ʻili. He mea laha ʻole ia e hoʻopilikia ai ma kahi o 5 i loko o 100,000 mau kānaka. Hiki iā ia ke hana i nā hōʻailona koke, koʻikoʻi, a ʻeha. I kekahi manawa, hiki i kēia mau mea ke hoʻoweliweli i ke ola.

I mea e hoʻomaopopo ai i kēia, e kamaʻilio iki kākou e pili ana i ke koko i loko o ko kākou kino. Aia i loko o ko kākou mau hunaola koko ʻulaʻula kahi protein i kapa ʻia ʻo " Hemoglobin ". ʻO kāna hana nui, ʻo ia ke kiʻi ʻana i ka oxygen e komo mai ana i loko o nā māmā i ka wā e hanu ai kākou a hāʻawi iā ia i nā ʻōkana a me nā ʻiʻo ʻē aʻe o ke kino. Ua like ia me kahi 'lawelawe lawe' e lawe ana i ka oxygen.

Aia kekahi ʻāpana ʻē aʻe he mea nui no ka hana ʻana i kēia protein i kapa ʻia ʻo "Hemoglobin", a kapa mākou ia he "Heme" .

ʻO ka mea e hana ʻia ana i loko o ke kino o ke kanaka me ka maʻi AHP, ʻo ia ka emi ʻana a i ʻole ka nalowale ʻana o kahi enzyme e pono ai i kekahi manawa o ke kaʻina hana o ka hana ʻana i kēia ʻāpana i kapa ʻia ʻo "Heme". Ua like ia me ka wā e kuke ai i kahi kīʻaha, inā nele kekahi mea hoʻohui, ʻaʻole hiki ke hoʻomākaukau pono ʻia ke kīʻaha.

ʻO ka hemahema o kēia enzyme e loaʻa nui ana i loko o ko kākou akepaʻa . Kāhea pū mākou i ke akepaʻa he '(Hepatic)'. ʻO ia ke kumu i kapa ʻia ai kēia maʻi he 'Acute Hepatic Porphyria '.

I kēia manawa, he aha ka mea e hana ʻia ke hiki ʻole iā mākou ke hana i ka `(Heme)`? ʻO nā mea maka i hoʻohana ʻia no ia mea, ʻo ia hoʻi ʻo `(Porphobilinogen - PBG)` a me `(Aminolevulinic acid - ALA)`, hoʻomaka e hōʻiliʻili i loko o ke ake. Hōʻiliʻili kēia mau mea ʻawahia i loko o ke koko a hele a puni ke kino, e hōʻino nui ana i kā mākou ʻōnaehana nerve. Ma muli o kēlā hōʻino ʻana o ke aʻalolo e kū mai ai nā hōʻailona e like me ka ʻeha nui , ka mae ʻana , a me ka nausea .

He aha nā ʻano nui o ka maʻi AHP?

ʻEhā ʻano nui o ka AHP. Hoʻokumu ʻia kēlā me kēia ʻano e ka nele o kahi enzyme ʻokoʻa i ke kaʻina hana o ka "(Heme)". Akā, hoʻopilikia nui nā ʻehā i ke akepaʻa a me ka ʻōnaehana nerve.

ʻO ka Porphyria Kūikawā ʻOi (AIP)

ʻO kēia ke ʻano e hoʻopilikia ana i ka 80% o nā maʻi AHP, ʻo ia hoʻi ka hapa nui. Ma kēia, aia kahi hemahema o ka enzyme `(Hydroxymethylbilane synthase – HMBS)`. ʻO ke kumu o kēia he loli i ka gene `(HMBS)`. I ka lāʻau lapaʻau, kapa mākou i kēia he gene `(mutation)` . I kekahi manawa hiki ke hoʻoilina ʻia kēia mai nā mākua a i nā keiki. A i ʻole i kekahi manawa hiki ke hana maʻamau i loko o ke kanaka me ka ʻole o ka mōʻaukala ʻohana.

He aha ke ʻano o nā hōʻailona AHP?

ʻAʻole like nā hōʻailona o kēlā me kēia kanaka me ka AHP. ʻAʻole paha e loaʻa i kekahi poʻe kekahi mau hōʻailona i ko lākou ola a pau. Akā, hiki i kekahi poʻe ke loaʻa pinepine i nā hoʻouka kaua koʻikoʻi. He mea nui e ʻike i kēia mau hōʻailona.

He aha nā mea e hoʻoulu ai i ka maʻi e ʻoi aku ka ʻino?

Hiki i ke kanaka me AHP ke ola i kahi ola maʻamau. Eia nō naʻe, hiki i kekahi mau mea ke hoʻoulu i ka maʻi. He mea nui loa ka makaʻala i kēia mau mea.

• Kekahi mau lāʻau lapaʻau: ʻOi aku kekahi mau lāʻau lapaʻau e like me nā antibiotics i loaʻa nā `(Barbiturates)` a me `(Sulfa)`. Inā loaʻa iā ʻoe ka AHP, he mea nui e kamaʻilio me kāu kauka ma mua o ka lawe ʻana i kekahi lāʻau lapaʻau.
• Ka inu ʻona: ʻO ka ʻona ke kumu nui o ka hoʻonui ʻia ʻana o kēia maʻi.
• ʻAi ʻai paʻa a hoʻokē ʻai paha: ʻO ka ʻai ʻana i ka meaʻai haʻahaʻa i nā calorie a me nā carbohydrates (starch) hiki ke hoʻonui i ka maʻi.
• Nā loli hormonal: Nā loli i nā pae hormone, ʻoi aku hoʻi i nā wahine, e pili ana me kā lākou pōʻaiapuni menstrual.
• Ke Kaumaha a me nā Maʻi: ʻO kēlā me kēia ʻano kaumaha ma ke kino, ʻoiai he maʻi kaumaha e like me ke kuni a i ʻole ke anu, hiki ke hoʻonui i ka maʻi.

Āhea ʻoe e ʻike ai i ke kauka?

Inā loaʻa iā ʻoe kēia mau hōʻailona, ​​​​mai hoʻokuʻu iā lākou me he mea maʻamau. He mea nui loa ka ʻimi ʻana i ke kōkua lapaʻau, ʻoiai ma nā hihia aʻe:

• Inā loaʻa iā ʻoe ka ʻeha ʻōpū koʻikoʻi i wehewehe ʻole ʻia a hoʻi hou mai.
• Inā kū mai nā hōʻailona neurological e like me ka numbness a me ka nāwaliwali i ka manawa like.
• Inā ʻike ʻoe ua loaʻa i kekahi o kou ʻohana ka maʻi `(Porphyria)`.
• Inā ʻike ʻoe e lilo ana kou mimi i ʻulaʻula/ʻeleʻele.

Inā loaʻa iā ʻoe nā hōʻailona koʻikoʻi, e like me ka ʻeha hiki ʻole ke hoʻomanawanui, ka paʻakikī o ka hanu ʻana, ka huikau o ka noʻonoʻo, a i ʻole ka nalowale ʻana o nā lālā, e hele koke i ka Emergency Treatment Unit (ETU) o ka haukapila.

Aia kekahi lāʻau lapaʻau no AHP?

ʻOiai he maʻi hoʻoilina kēia, ʻaʻohe lāʻau lapaʻau i kēia manawa. Eia nō naʻe, aia nā lāʻau lapaʻau kūpono loa e kāohi a pale aku i ka hoʻonui ʻia ʻana o ka maʻi.

I nā hihia koʻikoʻi, pono ka hoʻokipa ʻana a me ka mālama ʻana.

• ʻO ka mea nui, ʻo ia ka ʻike ʻana i ke kumu i hoʻoulu ai i ka maʻi a hoʻōki iā ia.
• Hāʻawi ʻia nā lāʻau ʻeha pain ikaika e kāohi i ka ʻeha nui.
• Hāʻawi ʻia nā lāʻau lapaʻau e kāohi i ka nausea a me ka luaʻi.
• Ma ka hāʻawi ʻana i ke kino i ka glucose (sugar), ʻo ia hoʻi, ka glucose me ka saline ma o kahi aa koko, hiki ke hoʻēmi ʻia ka hana ʻana o nā mea ʻawahia i loko o ke akepaʻa.
• Ma ke ʻano he lāʻau lapaʻau kūikawā , hana ʻia nā inikini `(Heme)` (Hemin infusions)`. Hana ʻia kēia ma ka hāʻawi ʻana iā `(Heme)` ma waho, e hoʻouna ana i kahi hōʻailona i ke akepaʻa e ʻōlelo ana, "Loaʻa iā ʻoe `(Heme)`, ʻaʻole pono ʻoe e hana hou aku," a hoʻōki i ka hana ʻana o nā mea ʻawahia.
• Ma waho aʻe o kēia, aia nā lāʻau lapaʻau hou i hana ʻia ma o ka ʻenehana genetic e pale aku i ka hoʻi hou ʻana o ka maʻi no ka poʻe i loaʻa pinepine i nā exacerbations.

Na ke kauka nāna ʻoe e nānā e hoʻoholo i ka lāʻau lapaʻau kūpono loa nāu.

AHP, ʻO ka Porphyria Hepatic Akute, Porphyria, ʻEha ʻōpū, Nā maʻi Neurological, Nā maʻi Genetic, Heme, Hemoglobin, Porphyrin, Nā maʻi laha ʻole