Ua lohe paha ʻoe i ka maʻi Refsum? E kamaʻilio kākou e pili ana i kēia maʻi laha ʻole!

Ua lohe paha ʻoe i kahi mea i kapa ʻia ʻo 'Refsum Disease'? Malia paha he mea hou iki kēia inoa i nā poʻe he nui. No ka mea, he maʻi laha ʻole loa ia, ʻo ia hoʻi, he maʻi genetic i ʻike pinepine ʻole ʻia. Akā, he mea waiwai nui ka ʻike iki ʻana i nā mea e like me kēia. I kēia lā, e kamaʻilio mākou e pili ana i ka Refsum Disease ma ke ʻano maʻalahi, ma ke ʻano hiki iā ʻoe ke hoʻomaopopo.

He aha maoli ka maʻi Refsum?

I ka ʻōlelo maʻalahi, ʻo ka maʻi Refsum kahi maʻi genetic e hoʻopilikia ana i ʻelua mau ʻāpana like ʻole. ʻO kekahi ka maʻi Refsum pēpē, a ʻo kekahi ka maʻi Refsum pākeke . No nā mea ʻelua i kahi hui nui o nā maʻi i kapa ʻia ʻo "Peroxisomal disorders." ʻO ka mea e hana ʻia ma kēia, ma muli o kekahi mau loli (kapa mākou i kēia mau "mutations") i loko o nā genes i loko o ko mākou kino, ʻaʻole hiki ke wāwahi pono ʻia kekahi ʻano momona, ʻo ia hoʻi, ʻaʻole hiki ke ʻeli ʻia. Inā loaʻa iā ʻoe kēia ʻano, nalowale kou kino i nā enzymes e kōkua i ka wāwahi ʻana i kahi ʻano momona i kapa ʻia ʻo "Phytanic acid." ʻO ka mea e hana ʻia, hoʻomaka ka "Phytanic acid" e hōʻiliʻili i loko o ke kino. E noʻonoʻo e like me kahi ʻōpala liʻiliʻi i loko o ko mākou hale a hoʻoulu i nā pilikia.

He aha ka ʻokoʻa ma waena o ka Refsum makua a me ka Refsum pēpē?

Ma nā ʻano ʻelua o ka maʻi Refsum, hiki iā ʻoe ke ʻike i ka nalowale o ka ʻike a me ka hōʻiliʻili ʻana o ka `(Phytanic acid)` i loko o ke kino aʻu i ʻōlelo ai ma mua. Akā, ʻo kēia mau kūlana ʻelua e kū mai ana ma muli o nā loli (`(mutations)`) i loko o ʻelua mau genes like ʻole ma mua o ko kākou hānau ʻia ʻana.

• ʻO ka maʻi Refsum pēpē: ʻO kēia kekahi o kahi hui o nā kūlana i kapa ʻia ʻo Zellweger spectrum disorders. Hoʻoulu ia i nā hōʻailona i nā pēpē a me nā kamaliʻi ʻōpio. No ka laʻana, ke kani ʻiʻo palupalu, ka hānai maikaʻi ʻole, nā hopu ʻana , nā lohi o ka ulu ʻana , a me nā maʻi akepaʻa . ʻOi aku ka koʻikoʻi o ka Refsum pēpē ma mua o ka Refsum makua. Hiki ke ʻokoʻa ka manawa ola no nā pēpē me kēia kūlana, akā hiki ke make i ka hopena.

• ʻO ka maʻi Refsum makua: ʻIke pinepine ʻia kēia i ka wā kamaliʻi a ma hope paha. ʻO ia ke kumu o ka nalowale o ka ʻike , ka nalowale o ke ʻala , ka mae ʻana a i ʻole ka nāwaliwali o nā lālā , a me ka nalowale o ka lohe . ʻAʻole e like me ka Refsum pēpē, ʻaʻole kēia e hoʻopilikia i ka lolo. No laila, ʻaʻole ʻike pinepine ʻia nā hopu ʻana a i ʻole nā ​​​​lohi o ka ulu ʻana. Eia nō naʻe, aia kahi pilikia o nā pilikia puʻuwai koʻikoʻi ma hope o ke ola.

Pehea ka maʻamau o ka maʻi Refsum?

He maʻi laha ʻole ka maʻi Refsum. Loaʻa ka maʻi Refsum pēpē i kahi o hoʻokahi i loko o hoʻokahi haneli tausani kānaka. ʻOi aku ka laha ʻole o ka maʻi Refsum pākeke, e loaʻa ana i kahi o hoʻokahi i loko o hoʻokahi miliona. No laila hiki iā ʻoe ke noʻonoʻo i ke ʻano o kēia mea laha ʻole.

He aha nā hōʻailona o ka maʻi Refsum?

ʻOkoʻa nā hōʻailona o ka maʻi Refsum ma muli o ka makahiki āu e hoʻomaka ai e ʻike i nā hōʻailona.

ʻO ka Refsum pēpē

Inā loaʻa i kāu pēpē ka maʻi Refsum, hiki iā lākou ke palupalu loa i ka wā hānau, me he mea lā ua make lākou. Hiki iā lākou ke pilikia i ka hānai waiū . Aia ko lākou mau hōʻailona i ke koʻikoʻi o ka maʻi. Loaʻa paha iā lākou nā ʻōhū, a i ʻole he mau ʻano ʻē paha i loko o kēia mau kino:

• Nā puʻupaʻa (`(Nā puʻupaʻa)`)
• ʻAkepaʻa (`(Akepaʻa)`)
• Nā iwi (ʻoi aku hoʻi nā iwi lōʻihi)

Hiki i nā pēpē me nā maʻi koʻikoʻi ke make i kekahi manawa i loko o ka makahiki mua o ke ola.

Hiki i nā keiki makua ke loaʻa nā ʻano mea like:

• Nā kīnā ulu
• ulu maikaʻi ʻole
• Nā pilikia ʻike a me ka lohe

Hoʻihoʻi ʻana o ka pākeke

ʻO ka hōʻailona mua o ka maʻi Refsum makua ka nalowale ʻana o ka ʻike pō . Hoʻokumu ʻia kēia e kahi maʻi i kapa ʻia ʻo `(Retinitis pigmentosa)`. Hiki i kāu keiki ke ʻike i kēia nalowale o ka ʻike pō i ko lākou mau makahiki ʻōpio, ma kahi o ka makahiki he ʻumikumamākolu a ʻumikumamāhā paha. A i ʻole ʻaʻole paha lākou e hōʻike i kekahi mau hōʻailona a hiki i ko lākou wā makua. I ko lākou wā ʻelemakule, hiki i kēia maʻi `(Retinitis pigmentosa)` ke kumu i ka nalowale ʻana o ka ʻike peripheral a alakaʻi hope loa i ka makapō piha.

ʻO nā hōʻailona ʻē aʻe o Refsum makua e komo pū ana:

• Ka nalowale ʻana o ke ʻala (`(Anosmia)`)
• ʻO ka maneʻo a i ʻole ke kuni ʻana i nā lālā
• Poho lohe
• Nā pilikia kaulike
• ʻO ka Ichthyosis (nā ʻāpana ʻili ʻinoʻino a unahi hoʻi)
• ʻIke pōwehiwehi, me he mea lā e ulu ana nā cataracts i loko o nā maka (`(Cataracts)`)
• ʻO ka maʻi puʻuwai koʻikoʻi, no ka laʻana, ka puʻuwai naʻau ʻole (arrhythmia) a i ʻole ka hāʻule ʻana o ka puʻuwai (ka hāʻule ʻana o ka puʻuwai)

He aha nā pilikia o ka maʻi Refsum?

He maʻi koʻikoʻi a hoʻonāwaliwali hoʻi ʻo Refsum i nā pēpē. He pilikia nui ko nā keiki me ka ʻai ʻana, nā hopu ʻana, ka ʻike a me ka lohe. Hoʻopōkole ʻia ko lākou ola ma muli o nā pilikia hanu.

I ka wā makua Refsum, e ʻoi aku ka ʻino o kou ʻike i ka hala ʻana o ka manawa. ʻO ka nāwaliwali, ka nalowale o ka ʻike, a me nā pilikia kaulike e piʻi mālie aʻe hoʻi. I kekahi manawa, i ka wā o ke kaumaha kino, e like me ka wā e loaʻa ai iā ʻoe kahi maʻi nui a i ʻole ke ʻoki ʻana , hiki i nā pae o ka `(Phytanic acid)` aʻu i ʻōlelo ai ke kiʻekiʻe loa. A laila hiki i ka puʻuwai ke lilo i mea ʻē aʻe a i ʻole hiki ke loaʻa ka nāwaliwali nui. Inā ʻaʻole mālama ʻia, hiki i kēia mau ʻano ʻē o ka puʻuwai (`(Arrhythmias)`) ke hoʻoweliweli i ke ola.

He aha ke kumu o ka maʻi Refsum?

Hoʻokumu ʻia ka maʻi Refsum e kahi loli (mutation) i loko o kahi gene āu i loaʻa ai i ka wā hānau. Hiki iā ʻoe ke loaʻa kēia mutation mai kou makuahine, kou makuakāne, a i ʻole nā ​​mea ʻelua.

Aia ma mua o ʻumikūmālua mau genes e hiki ke hoʻoulu i ka Refsum pēpē. ʻO kēia mau mea, ʻo ka mea maʻamau ʻo `(PEX1)` (ma kahi o 60%), `(PEX6)` (ma kahi o 15%), `(PEX12)` (ma kahi o 7.6%) a me `(PEX26)` (ma kahi o 4.2%).

Hoʻokumu ʻia ka maʻi Refsum makua e kahi loli genetic i loaʻa i ka wā hānau a hoʻoili ʻia i nā hanauna. Ma kahi o ʻeiwa o ka ʻumi o ka poʻe me ka maʻi Refsum makua he loli i loko o ka gene `(PHYH)`. ʻO ka hapa nui o nā poʻe ʻē aʻe he loli i loko o ka gene `(PEX7)`.

E noʻonoʻo e like me kahi hale hana liʻiliʻi i loko o ko kākou kino kahi e haki ai kekahi mīkini koʻikoʻi. Loaʻa nā pilikia e like me kēia ke hana pono ʻole kēlā mau mīkini i kapa ʻia he mau genes.

Pehea e ʻike ʻia ai ka maʻi Refsum?

Hoʻohana nā kauka i nā hoʻokolohua like ʻole e ʻike ai i ka maʻi Refsum, ma muli o kou mau makahiki. Hiki iā lākou ke hana i nā hoʻokolohua genetic e nānā i nā hoʻololi genetic e hoʻoulu ai i ka maʻi Refsum.

• No ka Refsum pēpē: ʻO nā hoʻāʻo maʻamau ka ana ʻana i nā waikawa momona kaulahao lōʻihi loa (`(nā waikawa momona kaulahao lōʻihi loa)`), waikawa phytanic (`(phytanic acid)`), a me ka waikawa pristanic (`(pristanic acid)`).
• No ka Refsum pākeke: E lawe mua paha kāu kauka i kahi hāpana koko a hoʻāʻo i kāu mau pae `(Phytanic acid)`.

Pehea e mālama ʻia ai ka maʻi Refsum?

Lapaʻau no Infantile Refsum

Inā loaʻa i kāu keiki ka maʻi Refsum pēpē, e hoʻoholo ke kauka i ka lāʻau lapaʻau ma muli o nā hōʻailona o ke keiki. Hiki i kēia ke komo pū me nā mea e like me:

• Ka hānai ʻana i ka paipu
• Ka wehe ʻana i ka cataract (`(Ka wehe ʻana i ka cataract)`)
• Nā aniani maka
• Nā mea kōkua hoʻolohe (`(Nā mea kōkua hoʻolohe)`)
• Nā huaora
• Nā lāʻau lapaʻau anti-haʻi
• Nā ʻano lapaʻau like ʻole a me nā lawelawe hana mua no ka lohi o ka ulu ʻana ("(nā lāʻau lapaʻau/nā lawelawe hana mua)")

Lapaʻau no ka Refsum pākeke

I ka mālama ʻana i ka maʻi Refsum makua, pono paha ʻoe e kaupalena i nā meaʻai e hoʻonui ai i ka nui o ka waikawa phytanic o kou kino. Eia kekahi laʻana:

• Pipi a me ke keiki hipa
• Nā huahana waiū
• ʻO ka iʻa ʻaila, e like me ke cod, tuna, a i ʻole haddock.

Pono paha kekahi poʻe i kahi lāʻau i kapa ʻia ʻo "Plasmapheresis" e kāohi i ka hōʻiliʻili ʻana o ka "Phytanic acid". Ma ka "Plasmapheresis", lawe ke kauka i kekahi o kou koko, kānana i ke keu o ka "Phytanic acid", a laila hāʻawi hou i kēlā koko iā ʻoe. ʻOiai he lāʻau paʻakikī kēia, he mea pono loa ia no kekahi poʻe.

Pono anei ka maʻi Refsum i ka mālama ʻana no ka maʻi puʻuwai?

I nā pākeke me ka maʻi Refsum, inā loaʻa koke iā ʻoe kahi puʻuwai puʻuwai kūpono ʻole, pono paha ʻoe i ka lāʻau lapaʻau e kaohi i ka helu o kou puʻuwai. Hiki i kēia ke komo pū me:

• Nā ʻano lāʻau lapaʻau:ʻO nā lāʻau lapaʻau e like me `(Beta-blockers)`, `(Calcium channel blockers)`, a i ʻole `(Anticoagulants)` e hōʻemi ana i ke kāpili ʻana o ke koko e hāʻawi ʻia e kaohi i ka helu o ka puʻuwai a i ʻole e hōʻemi i ka pilikia o ka hahau ʻana.
• Cardioversion: ʻO ka hoʻohana ʻana i kahi haʻalulu uila i kāohi ʻia e hoʻihoʻi i kahi ʻano puʻuwai maʻamau.
• ʻO ka defibrillator cardioverter implantable (ICD): He mea hana kēia i hoʻokomo ʻia ma lalo o kou ʻili. Nānā a hoʻoponopono ia i kou puʻuwai.
• ʻO ka hoʻopau ʻana o ka catheter: He hana invasive iki kēia e pili ana i ka hōʻino ʻana i ka ʻiʻo puʻuwai maʻi e hoʻopau i ka puʻuwai puʻuwai kūpono ʻole.

He aha ka mea e hiki ai i kekahi me ka maʻi Refsum ke manaʻo?

ʻO ka maʻamau, loaʻa i nā keiki me ka Refsum pēpē nā lohi nui o ka ulu ʻana a koi ʻia ke komo ʻana o ke kauka. ʻO ka mea kaumaha, ʻoiai ke mālama maikaʻi loa ʻia, ʻo ke koʻikoʻi a me ke ʻano o ke kūlana e hoʻopōkole i ke ola o kēia mau keiki.

He nui ka poʻe me ka Refsum makua e hoʻokele pono i kā lākou mau hōʻailona ma ka hoʻemi ʻana i nā meaʻai kiʻekiʻe i ka `(Phytanic acid)`. Me ka mālama ʻana, nalowale pinepine nā hōʻailona e like me ka ʻili maloʻo a me ka mae ʻana. Eia nō naʻe, pono paha ʻoe e noho me nā pilikia ʻike a lohe paha no ka manawa lōʻihi. ʻAʻole paha e loaʻa hou i kekahi poʻe ko lākou ʻala i nalowale.

Pehea e hōʻemi ai i ka pilikia o ka maʻi Refsum?

No ka mea, he maʻi hoʻoilina ka maʻi Refsum, ʻaʻohe ala e pale aku ai.

Inā loaʻa iā ʻoe ka maʻi Refsum, a i ʻole manaʻo paha ʻoe he mea lawe ʻoe i ka maʻi, makemake paha ʻoe e noʻonoʻo i ka hoʻāʻo ʻana i ka genetic. Hiki i ka hoʻāʻo genetic ke ʻike i ka hoʻololi ʻana o ka gene e hoʻoulu ai i ka maʻi Refsum. Hiki i kahi kākāʻōlelo genetic ke kōkua iā ʻoe e hoʻomaopopo i nā hopena o ka hoʻāʻo a wehewehe i nā manawa kūpono e hoʻoilina ai kāu mau keiki i ke kūlana genetic.

He aha kaʻu e nīnau aku ai i kaʻu kauka?

Inā loaʻa iā ʻoe ka maʻi Refsum, a manaʻo paha ʻoe he maʻi ia, hiki iā ʻoe ke nīnau i kāu kauka e like me kēia:

• He aha nā hōʻailona mua o ka maʻi Refsum?
• He aha nā hoʻokolohua i hoʻohana ʻia e ʻike ai i ka maʻi Refsum?
• He aha nā koho lapaʻau no ka maʻi Refsum?
• Pono anei au e hana i kahi hoʻokolohua genetic no ka maʻi Refsum?
• He aha nā manawa kūpono e loaʻa ai i kaʻu keiki ka maʻi Refsum?

He mea maʻamau ke makaʻu i ka wā e ʻike ai ʻoe he maʻi hoʻoilina laha ʻole kou a i ʻole kāu keiki. Eia nō naʻe, ʻo ka loaʻa ʻana o kahi hōʻailona ke kaʻina mua e hoʻomaopopo ai i ka mea e hana nei.

I ka hōʻuluʻulu manaʻo (Leka Lawe-Home)

He maʻi laha ʻole a paʻakikī ka maʻi Refsum. Eia nō naʻe, me ka ʻike kūpono a me ka mālama koke ʻana,Me ka mālama ʻana, ʻoiai hoʻi i ka maʻi Refsum makua, hiki ke kāohi i nā hōʻailona a ola i kahi ola maikaʻi. ʻOiai ʻoi aku ka paʻakikī o ke kūlana o ka pēpē Refsum, he mea nui loa ia e hāʻawi i ke keiki i ka mālama a me ke kākoʻo nui loa a lākou e pono ai.

Inā he mau nīnau hou aku kāu e pili ana i kēia, a inā paha e kānalua ʻoe ua loaʻa i kekahi o kou ʻohana kēia mau hōʻailona, ​​mai kānalua e ʻimi i ke aʻo lapaʻau. Hiki nō hoʻi ke lilo i mea kōkua nui ke komo ʻana i nā hui kākoʻo e kōkua ana i nā poʻe me kēia mau maʻi laha ʻole a me ko lākou mau ʻohana. ʻOiai he ʻokoʻa ka ʻike o kēlā me kēia kanaka, hiki i ke kamaʻilio ʻana me nā poʻe ʻē aʻe ke kōkua iā ʻoe e emi iho ka noho mehameha.

ʻO ka maʻi Refsum, ka maʻi Refsum, nā maʻi genetic, ka waikawa phytic, nā pilikia ʻike, ka hemahema o ka lohe, Refsum pēpē, Refsum pākeke