Loaʻa iā ʻoe nā hōʻailona ʻē o kou ʻili a i ʻole ka ʻōnaehana nerve? E aʻo kākou e pili ana i kēia (Neurocutaneous Syndrome)!

Ua ʻike anei ʻoe he mau kiko a he mau puʻupuʻu paha ko kekahi poʻe ma ko lākou ʻili? I kekahi manawa hiki i kēia ke ʻoi aku ma mua o ka pilikia ʻili wale nō. I kēia lā e kamaʻilio mākou e pili ana i kahi hui o nā maʻi i paʻakikī iki, akā he mea nui loa e ʻike. Kāhea mākou i kēia mau maʻi neurocutaneous . ʻOiai paha he mea weliweli iki ka inoa, e hoʻomaopopo maʻalahi kākou.

He aha kēia mau syndromes neurocutaneous?

I ka ʻōlelo maʻalahi, ʻo nā maʻi neurocutaneous he hui o nā maʻi e hoʻopilikia i ko mākou ʻili a me ka ʻōnaehana nerve (ʻo ia hoʻi, ka lolo, ke kaula spinal, a me nā aʻalolo). Hiki i kēia mau kūlana ke hana i nā puʻupuʻu ma nā ʻāpana like ʻole o ke kino, ʻoi aku hoʻi ka ʻili a me ka ʻōnaehana nerve. Hiki i kekahi o kēia mau puʻupuʻu ke maʻi kanesa, aʻo kekahi he mau puʻupuʻu ʻaʻole maʻi kanesa (he mau puʻupuʻu wale nō).

ʻO ka mea nui, he hānau ʻia kēia mau maʻi. ʻO ia hoʻi, ua hānau ʻia ke kanaka me ke ʻano. Eia nō naʻe, i kekahi manawa hiki ke lōʻihi ka ʻike ʻia ʻana o nā hōʻailona, ​​i kekahi manawa i ka wā ʻōpio a i ʻole ma hope. Ua kapa ʻia kēia hui o nā maʻi ʻo Phakomatoses . ʻOiai ʻaʻole maʻamau loa kēlā inoa, e hoʻomanaʻo kākou ua kapa ʻia ʻo ia he neurocutaneous syndrome.

Pehea ka maʻamau o kēia mau kūlana?

ʻO kaʻoiaʻiʻo, he mea kakaikahi loa kēia hui o nā maʻi i kapa ʻia ʻo neurocutaneous syndromes. Eia nō naʻe, ʻike pinepine ʻia kekahi o lākou ma mua o nā mea ʻē aʻe. Eia kekahi laʻana:

• ʻO Neurofibromatosis ʻano 1 (NF1): ʻO kēia ke kūlana maʻamau i kēia hui. Hoʻopilikia ia ma kahi o 1 i loko o 3,000 mau kānaka .
• ʻO ka Neurofibromatosis ʻano 2 (NF2): ʻAʻole i maʻamau kēia. Hoʻopilikia ia ma kahi o 1 i loko o 25,000 mau kānaka .
• ʻO Tuberous Sclerosis : He mea kakaikahi nō hoʻi kēia, e pili ana i hoʻokahi i loko o 6,000 mau kānaka .

ʻIke ʻoe? ʻAʻole kēia mau mea i maʻamau e like me nā maʻi o kēlā me kēia lā. Akā inā loaʻa iā ʻoe a i ʻole kekahi āu i ʻike ai kekahi mea e like me kēia, he mea nui loa ia e makaʻala i ia mea.

He aha nā hōʻailona o ka maʻi neurocutaneous?

ʻO nā hōʻailona nui o kēia mau kūlana he mau ulu kūpono ʻole a i ʻole nā ​​puʻupuʻu ma ka ʻili a me ka ʻōnaehana nerve . Ma waho aʻe o kēia mau mea, hiki i kēia mau syndromes ke hoʻopilikia i kā mākou ʻōnaehana iwi (ʻo ia hoʻi, ko mākou mau iwi) a me nā ʻōpū ʻē aʻe o ke kino. No laila, nā hōʻailona e like me:

• Nā pilikia kaulike i ka wā e hele ana (manaʻo e like me ʻoe e nalowale ana i kou kaulike).
• Ka hemahema o ka lohe (ka emi ʻana o ka lohe).
• Nā pilikia ʻike (nā pilikia like ʻole me ka ʻike maka).

Eia nō naʻe, ʻaʻole like nā hōʻailona o nā maʻi neurocutaneous āpau. ʻOkoʻa nā hōʻailona ma muli o ke kūlana. E nānā kākou i kekahi mau laʻana:

• ʻO Incontinentia Pigmenti (IP): He ʻano kēia kahi e hoʻomaka ai kahi ʻōpala ma ke ʻano he mau pehu ma ka ʻili a ma hope e ulu aʻe i loko o kahi ʻōpala e like me ka ʻeha . I kekahi manawa, hiki ke hele pū ʻia kēia me nā pilikia neurological. E noʻonoʻo i kahi keiki liʻiliʻi e ulu koke ana nā pehu ma ko lākou ʻili, a laila maloʻo, e waiho ana i nā wahi ʻē.
• ʻAno Neurofibromatosis 1 (NF1): ʻO kēia ke kumu o ka ulu ʻana o nā ʻiʻo palupalu ʻaʻole cancerous . Hiki ke loaʻa ka hoʻololi ʻana o ka ʻili, e like me nā māka hānau ʻeleʻele (i kapa ʻia hoʻi he mau wahi café-au-lait) a me nā wahi liʻiliʻi i nā ʻili ʻili (e like me nā armpits a me ka groin). I kekahi manawa, hiki ke loaʻa nā ulu ʻana i nā maka.
• ʻO Neurofibromatosis ʻano 2 (NF2): ʻO kēia kūlana ke kumu nui o nā neuromas acoustic , hiki ke hana i nā pilikia ʻike, ka nalowale o ka lohe, a me nā māka hānau ʻeleʻele māmā.
• ʻO Schwannomatosis : Hiki i kēia ke hana i nā hōʻailona e like me ka numbness, nāwaliwali o nā ʻiʻo, ka nalowale o ka lohe, a me ka ʻeha nui .
• ʻO ka Sturge-Weber Syndrome : He ʻano kēia e ʻike ʻia ai kahi ʻulaʻula nui, ʻeleʻele, kahi ʻili waina port ma kekahi ʻaoʻao o ka maka. Hiki iā ia ke hana i nā loli i loko o nā kīʻaha koko i loko o ka lolo a me ka glaucoma , kahi ʻano e hoʻonui ai i ke kaomi i loko o ka maka. Hiki i kekahi poʻe ke loaʻa i nā hopu a me ke kīnā noʻonoʻo.
• ʻO ka Tuberous Sclerosis : ʻO kēia maʻi ke kumu o nā pilikia me ka lolo, nā maka, ka ʻili, ka puʻuwai, a me nā māmā . ʻO ka hōʻailona nui ka ulu ʻana o nā puʻupuʻu ʻaʻole maʻi kanesa i nā ʻano kino like ʻole.
• ʻO ka maʻi Von Hippel-Lindau : Hiki i kēia ke hana i nā ʻōpū i kapa ʻia he hemangioblastomas a me nā angiomas i loko o nā kelepa adrenal , nā maka, ka lolo, a me nā puʻupaʻa.

Ma hope o ka hoʻolohe ʻana i kēia wehewehe ʻana, maopopo paha iā ʻoe ke ʻano like ʻole a me ka paʻakikī o kēia mau kūlana. No laila he mea nui e ʻimi koke i ke kōkua lapaʻau inā loaʻa iā ʻoe kēia mau hōʻailona.

Hiki i ka neurocutaneous syndrome ke hoʻoulu i nā pilikia?

ʻAe, ʻo ka mea pōʻino, ʻoi aku ka nui o ka pilikia o ka poʻe me nā maʻi neurocutaneous i ka hoʻomohala ʻana i kekahi mau ʻano maʻi kanesa . Eia kekahi, aia kahi pilikia o nā pilikia ʻē aʻe ma muli o kēia mau kūlana. ʻO kekahi o lākou:

• Nā lohi o ka hoʻomohala ʻana`(Nā lohi o ka ulu ʻana)`: ʻAʻole ʻike i ka ulu kūpono o ka makahiki, ʻoi aku hoʻi i nā keiki ʻōpio.
• ʻEpilepsy : ʻO ke ʻano kēia o nā hopu ʻana .
• ʻEha poʻo : ʻEha poʻo pinepine, i kekahi manawa ʻeha nui.
• Ke koko kiʻekiʻe (Hypertension).
• Nā kīnā aʻo .
• Nā ʻano puʻupuʻu like ʻole : He maʻi kanesa paha kēia a ʻaʻole paha.

No laila, he mea nui loa i kekahi kanaka me kēia maʻi e mālama mau ʻia ma lalo o ka mākaʻikaʻi lapaʻau.

He aha ke kumu o ka maʻi neurocutaneous?

Hoʻokumu ʻia kēia mau maʻi neurocutaneous e kekahi mau loli (mutations) i loko o nā genes i loko o ko mākou kino. E noʻonoʻo i kēia ʻano: ua like ko mākou kino me kahi palapala hoʻolālā nui, a ʻo nā genes nā kuhikuhi i loko o kēlā palapala hoʻolālā. Inā he loli liʻiliʻi i kēia mau kuhikuhi, hiki iā ia ke hoʻopilikia i ka hana o ke kino.

I kekahi manawa, ua hoʻoilina ʻia kēia mau loli genetic mai nā mākua a i nā keiki . ʻO ia hoʻi, hiki ke hoʻoili ʻia mai kēlā hanauna a i kēia hanauna. Akā, ʻaʻole ia ka hihia mau. I kekahi manawa, hiki ke hana ʻia kēia mau hoʻololi genetic me ke kumu ʻole, me ka ʻole o ka mōʻaukala ʻohana . Ua like ia me ka lottery, ʻaʻole ʻoe i ʻike i ka mea nāna e loaʻa.

Pehea e ʻike ai nā kauka i kēia mau kūlana?

Hiki ke paʻakikī iki ka ʻike ʻana i kēia mau kūlana, no ka mea, ʻokoʻa nā hōʻailona.

No nā kamaliʻi ʻōpio , hoʻomaka pinepine nā kauka me kahi "kipa keiki maikaʻi" ma kahi keʻena lapaʻau keiki maikaʻi . Ma laila, nīnau ke kauka iā ʻoe (ka makua) e pili ana i nā hōʻailona o kāu keiki a nānā inā e hoʻokō ana kāu keiki i nā " paepae ulu keiki" (ʻo ia hoʻi, inā paha e hana ana lākou i nā mea kūpono no ko lākou mau makahiki, e like me ka minoʻaka, ke kolo ʻana, a me ka hele wāwae ʻana).

Hiki ke ʻike ʻia nā hōʻailona i nā pākeke ma hope o ke ola. ʻOiai i kēlā manawa, e nīnau kāu kauka iā ʻoe e pili ana i kāu mau hōʻailona a hana i kahi hoʻokolokolo kino.

Inā kānalua ke kauka i ka neurocutaneous syndrome, e paipai ʻo ia i kekahi mau hoʻokolohua kikoʻī hou aku.

He aha nā ʻano hoʻokolohua e hoʻohana ʻia e ʻike ai i kēia mau mea?

Hoʻohana pinepine nā kauka i nā hoʻokolohua koko a me nā hoʻokolohua kiʻi like ʻole e ʻike ai i kēia mau kūlana. Hiki i kāu kauka ke ʻōlelo i nā hoʻokolohua e like me kēia:

• Nānā CT
• EEG (Electroencephalogram - EEG): Hoʻāʻo kēia i ka hana uila o ka lolo, ʻoiai e nānā i nā kūlana e like me ka maʻi epilepsy.
• Nā hoʻokolohua keʻena hoʻokolohua : Hiki i kēia ke lilo i mau hoʻokolohua koko a mimi paha.
• ʻO ke kiʻi MRI `(MRI)`
• ʻO ka biopsy ʻili a i ʻoleʻO ka biopsy tumor: Pili kēia i ka lawe ʻana i kahi ʻāpana liʻiliʻi o ka ʻili a i ʻole ka puʻupuʻu a nānā iā ia ma lalo o kahi microscope.

Ma muli o ka ʻike i loaʻa mai kēia mau hoʻokolohua hiki i ke kauka ke hana i kahi hōʻailona paʻa.

Pehea e mālama ʻia ai kēia mau syndromes neurocutaneous?

ʻO ka mea nui, ʻaʻohe lāʻau lapaʻau e hiki ke ho'ōla loa i kēia neurocutaneous syndrome.

He mea kaumaha paha kēia ke lohe ʻia, akā, mai hoʻokuʻu i ka manaʻolana. ʻOiai ʻaʻole hiki ke ho'ōla ʻia kēia mau maʻi, hiki ke mālama ʻia nā hōʻailona e kū mai ana . ʻO ia hoʻi, inā he ʻeha ma muli o ka puʻupuʻu, aia ka maʻi epilepsy, aia nā pilikia ʻili, a pēlā aku, hāʻawi ʻia ka lāʻau lapaʻau i kēlā me kēia hōʻailona.

ʻO ka pahuhopu nui o ka mālama ʻana, ʻo ia ka mālama ʻana i ke ʻano o ke ola o ka mea maʻi i ka maikaʻi loa a me ka kaohi ʻana i ka hiki ʻana mai o nā pilikia.

Inā loaʻa kēia maʻi i kaʻu keiki, pehea e hiki ai iaʻu ke kōkua iā ia?

Ma ke ʻano he makua, nui paha kou manaʻo ke ʻike ʻoe ua loaʻa i kāu keiki ka maʻi neurocutaneous. He mea maʻamau kēlā. ʻO ka mea nui loa, pono kēia mau keiki i ka mālama kūikawā a me ka nānā ʻana i ke kauka i ko lākou ola a pau . E kamaʻilio me kāu kauka e ʻike pono pehea e mālama ai i nā hōʻailona o kāu keiki. E noʻonoʻo pū i kēia mau mea:

• E ʻike i nā loea a kāu kauka e ʻōlelo ai.
• E hana i nā hoʻokolohua kanesa i ʻōlelo ʻia i ka manawa kūpono.
• Inā loaʻa i kāu keiki kekahi mau hōʻailona hou , e hoʻomaopopo koke i ke kauka.

Hiki ke paʻakikī ke noho me kēia mau kūlana, akā me ke aʻo lapaʻau kūpono a me ka mālama aloha, hiki ke lanakila ʻia kēlā mau pilikia.

Inā loaʻa kēia maʻi i kaʻu keiki, ʻo wai nā kauka lapaʻau e pono ai iā ia ke ʻike?

Pono paha kekahi keiki me ka neurocutaneous syndrome i nā lawelawe a kekahi mau loea. Hiki i kāu kauka ʻohana ke hoʻonohonoho no ʻoe e hālāwai me kēia mau loea. ʻO nā loea i makemake nui ʻia:

• Kauka Hoʻolohe : No nā pilikia lohe.
• Kauka ʻili : No nā pilikia ʻili.
• Neurologist : No nā pilikia e pili ana i ka ʻōnaehana nerve.
• Kauka maka : No nā pilikia e pili ana i ka ʻike.

Me ke kākoʻo o kēia poʻe a pau e hiki ai ke hoʻomohala ʻia ka hoʻolālā lapaʻau maikaʻi loa no ke keiki.

Inā loaʻa iaʻu a i ʻole kaʻu keiki kēia maʻi, he aha kaʻu e manaʻo ai?

Inā loaʻa iā ʻoe a i ʻole kāu keiki ka maʻi neurocutaneous, pono ʻoe e loaʻa i nā manawa lapaʻau maʻamau.Pono paha ʻoe e hele. Hana ʻia kēia e nānā i kekahi ulu ʻana o nā puʻupuʻu a i ʻole nā ​​​​loli i kāu mau hōʻailona. E kamaʻilio ākea me kāu kauka e pili ana i ka mea e manaʻo ai ma muli o kāu maʻi neurocutaneous kikoʻī.

Hiki ke ho'ōla ʻia kēia maʻi neurocutaneous?

ʻAʻole, e like me kā mākou i ʻōlelo ai ma mua, ʻaʻohe lāʻau lapaʻau no kēia maʻi neurocutaneous. Eia nō naʻe, hiki i kāu hui lapaʻau ke kōkua iā ʻoe e hoʻokele i nā hōʻailona e hoʻopilikia nei iā ʻoe a i kāu keiki paha. No laila, mai nalowale ka manaʻolana.

Aia kekahi ala e pale aku ai i kēia mau kūlana?

ʻAʻole hiki ke pale ʻia kēia mau maʻi neurocutaneous no ka mea ua hoʻokumu ʻia e nā loli genetic. Eia nō naʻe, hiki i nā hoʻokolohua genetic a me ke aʻoaʻo preconception ke kōkua iā ʻoe e hoʻomaopopo inā paha ʻoe i ka pilikia o ka hoʻoili ʻana i kahi maʻi genetic i kāu keiki.

Pehea e ʻike ai au inā aia wau i ka pilikia o ka loaʻa ʻana o kēia maʻi?

Inā loaʻa i kekahi o kou ʻohana ka maʻi neurocutaneous, hiki iā ʻoe (a i ʻole kāu keiki) ke piʻi iki aʻe ka pilikia o ka loaʻa ʻana o kēia mau kūlana. No laila, inā loaʻa i kekahi o kou ʻohana kēia maʻi, e haʻi i kāu kauka. A laila hiki i kāu kauka ke paipai i ka hoʻāʻo genetic e nānā i nā mutations genetic, inā pono.

ʻO ka mea hope loa, leka lawe i ka home

ʻO nā maʻi neurocutaneous he mau maʻi genetic no ke ola holoʻokoʻa e hiki ke hoʻopilikia i kou ʻōnaehana nerve, ʻili, a me nā ʻōpū ʻē aʻe. He mea maʻamau ka makaʻu a me ka hopohopo ke ʻike ʻoe ua loaʻa iā ʻoe kēia maʻi.

ʻO ka mea nui, ʻo ia ka ʻike ʻaʻole ʻoe hoʻokahi. ʻO ka ʻike ʻana i kou ʻano kikoʻī o ka neurocutaneous syndrome a me ka loaʻa ʻana o kahi hui lapaʻau i loea i ka mālama ʻana iā ia ke ala maikaʻi loa e hōʻoia ai e loaʻa iā ʻoe ka mālama maikaʻi loa a me ka lāʻau kūpono.

Manaʻolana wau he kōkua kēia ʻike iā ʻoe. Inā he mau nīnau kāu, mai kānalua e kamaʻilio me kāu kauka. E noho olakino!

Nā maʻi neurocutaneous, nā maʻi neurocutaneous, nā maʻi genetic, nā nodules ʻili, nā maʻi o ka ʻōnaehana nerve, NF1, NF2, tuberous sclerosis, phacomatoses