He aha ka Turcot Syndrome? Hiki iā ia ke hoʻopilikia iā ʻoe? E kamaʻilio kākou me nā kikoʻī!

Ua lohe paha ʻoe i kahi maʻi hoʻoilina laha ʻole? I kekahi manawa, hiki i ko mākou kino ke loaʻa nā pilikia a mākou i ʻike ʻole ai. I kēia lā, e kamaʻilio mākou e pili ana i kekahi ʻano maʻi laha ʻole he mea nui e ʻike. Ua kapa ʻia ʻo Turcot Syndrome.

He aha ka Turcot Syndrome maʻamau?

I ka ʻōlelo maʻalahi, he maʻi hoʻoilina laha ʻole ka Turcot Syndrome. Pili nui ia i ka ulu ʻana o nā ulu liʻiliʻi (i kapa ʻia hoʻi he polyps) i loko o kā mākou ʻōnaehana hoʻoheheʻe, ʻo ia hoʻi, i loko o nā ʻōpū, a me nā puʻupuʻu i loko o ka lolo a i ʻole ke kaula kuamoʻo. E noʻonoʻo pehea ka hoʻonāukiuki o ka loaʻa ʻana o nā pilikia ma nā wahi ʻelua i ka manawa hoʻokahi.

Ke hana ʻia kēia mau ulu liʻiliʻi (polyps) i loko o nā ʻōpū, hiki i kekahi poʻe ke ʻike i nā hōʻailona e like me ke kahe ʻana o ke koko i ka rectal, ka hoʻonui ʻia o ka neʻe ʻana o ka ʻōpū (diarrhea), a me nā ʻeha o ka ʻōpū . Eia kekahi, ma muli o ka nui a me kahi o ka puʻupuʻu i loko o ka lolo a i ʻole ke kaula kuamoʻo , hiki ke loaʻa nā hōʻailona neurological e like me ke poʻo ʻeha, ka ʻike pohihihi, ka nalowale o ke kaulike, a me ka hāʻule pinepine .

Manaʻo kekahi poʻe noiʻi lapaʻau he ʻano like paha ka Turcot Syndrome o Familial Adenomatous Polyposis (FAP). Eia naʻe, ʻaʻole i hōʻoia ʻia kēia. ʻO ka FAP kekahi ʻano e ulu ai nā polyp liʻiliʻi he nui i loko o ka colon ma mua o ka ulu ʻana o ka maʻi ʻaʻai. Aia paha he pilina ma waena o nā mea ʻelua, no ka mea, he mutation ko kekahi mau maʻi Turcot Syndrome i loko o ka gene APC. Hiki i nā mutation i loko o ka gene APC ke hana i ka FAP.

He mea kākaʻikahi loa kēia a he kakaʻikahi wale nō nā hihia, ma kahi o 150, i hōʻike ʻia ma nā moʻolelo lapaʻau ma ka honua holoʻokoʻa. No laila hiki iā ʻoe ke noʻonoʻo i ka laha ʻole o kēia.

He maʻi hoʻoilina anei kēia? Pehea e loaʻa ai i kekahi?

ʻAe, he maʻi hoʻoilina hoʻoilina ka Turcot Syndrome, ʻo ia hoʻi, ua hoʻoili ʻia mai nā mākua a i nā keiki ma o nā genes . Hoʻokumu ʻia ia e kekahi mau loli, a i ʻole nā ​​mutations, i loko o kā mākou mau genes. Hiki iā ia ke hoʻopilikia iā mākou ma nā ʻano nui ʻelua:

1. ʻAno 1 Turcot Syndrome: Ua kapa ʻia hoʻi kēia ʻo "true" Turcot syndrome. Hoʻoilina ʻia ia ma ke ʻano he ʻano autosomal recessive. I ka ʻōlelo maʻalahi, no ke keiki e loaʻa i kēia maʻi, pono i nā mākua ʻelua ke hoʻoilina i ka mutation gene. Ua like ia me ka lanakila ʻana i ka lottery (akā ʻaʻole ia he mea maikaʻi!). ʻO ka hapa nui o kēia ʻano ke kumu o nā mutations i loko o nā genes `(MLH1)` a me `(PMS2)`.

2. ʻAno 2 Turcutt Syndrome:Ua hoʻoilina ʻia kēia ma ke ʻano he "ʻano autosomal dominant." ʻO ia hoʻi, hiki i kahi keiki ke loaʻa i kēia maʻi ʻoiai inā hoʻoilina lākou i ka hoʻololi ʻana o ka gene pili mai hoʻokahi makua wale nō, ʻo ka makuahine a i ʻole ka makuakāne. Hoʻokumu ʻia kēia e kahi loli i ka gene "(APC)". ʻO ka hana o kēia gene "(APC)" ʻo ia ke pale aku i ka hoʻokumu ʻia ʻana o nā puʻupuʻu kanesa i loko o ko mākou kino a i ʻole e hoʻōki iā lākou mai ka ulu ʻana. No laila, ke hana pono ʻole kēlā gene, kū mai nā pilikia.

He aha nā hōʻailona nui o kēia maʻi?

ʻO nā hōʻailona nui o ka Turcot Syndrome, e like me ka mea i ʻōlelo ʻia ma mua , nā polyps i loko o nā ʻōpū a me hoʻokahi a ʻoi aku paha nā puʻupuʻu i loko o ka lolo a i ʻole ke kaula spinal. Hiki i kekahi poʻe ke loaʻa nā ʻumi o kēia mau polyps, ʻo ia hoʻi ke hoʻomaka lākou e ulu i ka wā ʻōpiopio loa.

Nā hōʻailona o nā ulu liʻiliʻi (polyps) i loko o nā ʻōpū

Hiki ke ʻokoʻa ka helu o kēia mau ulu liʻiliʻi (polyps) e ulu ana i loko o ke kanaka mai kēlā kanaka a kēia kanaka.

• ʻO kēia mau polyp e ulu ana i loko o ka poʻe me ka Type 1 Turcotte syndrome e ʻoi aku ka nui o ka lilo ʻana i maʻi kanesa.
• ʻOi aku ka nui o ka poʻe me ka Type 2 Turcotte syndrome e loaʻa i ke ʻano i ʻōlelo ʻia ma mua ʻo "Familial Adenomatous Polyposis (FAP)".

ʻO kēia mau ulu liʻiliʻi (polyps intestinal) e hana ʻia i loko o nā ʻōpū e hiki ke hana i nā hōʻailona e like me:

• ʻEha ʻōpū
• Ka paʻa ʻana o ka ʻōpū
• Ka maʻi pākī
• Ke kahe koko ʻana o ka rectum
• ʻO ka pohō kaumaha, ʻo ia hoʻi, ka pohō kaumaha

Nā Hōʻailona o nā Puʻupuʻu o ka Lolo/Spinal Cord

Hiki i nā puʻupuʻu e ulu ana i loko o ka lolo a i ʻole ke kaula kuamoʻo ke hoʻopilikia i kā mākou ʻōnaehana nerve waena (CNS). ʻO kā mākou ʻōnaehana nerve waena ka ʻōnaehana e kāohi ana i nā hana he nui o ke kino, me ka lolo a me ke kaula kuamoʻo. Hiki i kēia ke hana i nā hōʻailona e like me:

• Ka nalowale o ke kaulike, hāʻule pinepine (nā pilikia kaulike)
• ʻEha poʻo koʻikoʻi
• Ka nalowale o ka manaʻo - ka ʻeha o nā lima, nā wāwae, a i ʻole nā ​​​​ʻāpana o ke kino
• Ka luaʻi a i ʻole ka luaʻi
• Nā hopu ʻana
• Nā pilikia hihiʻo, me ka hihiʻo pālua a i ʻole ka hihiʻo pōwehiwehi
• Manaʻo e like me kekahi ʻaoʻao o kou kino (e laʻa, hoʻokahi lima, hoʻokahi wāwae, a i ʻole kekahi ʻaoʻao o kou kino) e mae ana (Nāwaliwali ma kekahi ʻāpana o kou kino)

Nā ʻano ʻē aʻe a me nā ʻano maʻi kanesa me ka hoʻonui ʻia o ka pilikia

I kekahi manawa, loaʻa i ka poʻe me ka Turcot Syndrome nā ʻōpū momona ʻaʻole hiki ke hoʻopili ʻia me ka maʻi kanesa (lipomas) a i ʻole nā ​​​​kiko liʻiliʻi ʻeleʻele (nā wahi café-au-lait) ma ka ʻili .

Eia kekahi, hoʻonui kēia kūlana i ka pilikia o ka hoʻomohala ʻana i kekahi mau ʻano maʻi kanesa a me nā puʻupuʻu. ʻO nā mea nui:

• Ka maʻi ʻaʻai kolona
• ʻO Astrocytoma (kahi ʻano puʻupuʻu lolo)
• ʻO Ependymoma (kahi ʻano puʻupuʻu e hoʻomaka ana i loko o nā pūnaewele e hoʻopaʻa ana i nā hakahaka piha i ka wai o ka lolo a me ke kaula spinal)
• ʻO Glioma (nā puʻupuʻu e kū mai ana mai nā pūnaewele kākoʻo o ka lolo)
• ʻO Glioblastoma (kahi ʻano maʻi ʻaʻai lolo koʻikoʻi loa)
• ʻO Medulloblastoma (kahi ʻano maʻi kanesa e ulu ana ma ka cerebellum, ʻo ia hoʻi, ma ka ʻaoʻao haʻahaʻa o ka lolo kokoke i ke poʻo)
• ʻO ka maʻi ʻili basal cell carcinoma

Pehea e ʻike ʻia ai kēia maʻi? (Diagnosis)

No ka hoʻoholo ʻana inā loaʻa iā ʻoe ka Turcot Syndrome, e hana kāu kauka i kekahi mau hoʻokolohua, e nānā nui ana i kou lolo a me nā wahi a puni kou ʻōpū. No kēia:

• Hiki ke hana ʻia nā hoʻokolohua e like me nā X-ray, MRI, a me nā CT scan e nānā i nā ʻōpū lolo a i ʻole nā ​​polyp o ka ʻōpū. I kekahi mau hihia kūikawā, hiki ke ʻōlelo ʻia kahi PET scan.
• Colonoscopy: ʻO kēia ke komo ʻana i kahi ʻōmole liʻiliʻi i hoʻomālamalama ʻia ma o ka anus e nānā i loko o ka ʻōpū nui a me ka rectum no kekahi mau mea ʻino.
• Hoʻāʻo Biopsy: Inā loaʻa kahi puʻupuʻu i loko o ka kolona a i ʻole ka lolo, lawe ʻia kahi ʻāpana liʻiliʻi o ka ʻiʻo a nānā ʻia ma lalo o kahi microscope.

ʻO ka mea nui loa, inā loaʻa kekahi o kou mau mākua i ka Turcot Syndrome, ʻoi aku ka nui o ka nānā ʻia ʻana o ʻoe no ke ʻano.

I loko o ia hihia, hiki i ke kauka ke kuhikuhi i nā mea e like me:

• Ka hoʻāʻo ʻana o ka DNA: Hiki i kēia hoʻāʻo genetic ke ʻike i ke alo o nā genes mutated e hoʻoulu ai i ka maʻi Turcotte.
• Sigmoidoscopy: Nānā kēia i ka ʻaoʻao haʻahaʻa o ka ʻōpū nui (ka kolone sigmoid). Hiki i nā ʻōpio i hoʻoilina i kahi gene no ka maʻi Turcotte ke hoʻomau i nā hoʻokolohua kolone a hiki i ko lākou mau makahiki he 35. ʻAe kēia i ka ʻike mua ʻana a me ka mālama ʻana i nā ulu liʻiliʻi (polyps) i loko o ka kolone.

He aha nā lāʻau lapaʻau no ka Turcot Syndrome?

ʻOkoʻa ka mālama ʻana no ka Turcot Syndrome ma muli o nā hōʻailona.

Pono paha ʻoe e hana i kahi polypectomy e wehe i nā ulu liʻiliʻi (polyps) i loko o kou kolona. Hiki i kāu kauka ke paipai i kekahi mau ʻoki kino e pale aku i ka hoʻokumu hou ʻana o kēia mau ulu. Eia kekahi laʻana:

• `Ileoproctostomy`: Wehe ʻia ka ʻōpū nui a hoʻopili ʻia ka rectum a me ka ʻōpū liʻiliʻi.
• ʻIleostomy:Wehe ʻia ka rectum a hoʻopili ʻia ka ʻōpū liʻiliʻi i waho o ka ʻōpū (e hāʻawi i kahi ala ʻokoʻa no ka puka ʻana o ka ʻōpala).
• ʻO ka ʻanastomosis ileoanal: Hoʻohui i ka ʻōpū liʻiliʻi a me ka anus.
• Colectomy: Wehe ʻana i kahi hapa a i ʻole ka kolona holoʻokoʻa.
• `Proctocolectomy`: Ua wehe ʻia ka kolona a me ka rectum.

Hiki ke ʻokoʻa ka mālama ʻana no nā puʻupuʻu i loko o ka lolo a i ʻole ke kaula kuamoʻo. Hoʻāʻo pinepine nā kauka e wehe i ka puʻupuʻu. I ka wā o ka mālama ʻana, hoʻāʻo lākou e hōʻemi i ka hōʻino ʻana i nā ʻiʻo olakino a puni ia. No ka hana ʻana i kēia:

• ʻO ke kemoterapeuta
• Hoʻōla radiation
• ʻoki kino

Nā ʻano lapaʻau e like me:

Aia nō hoʻi au i ka pilikia o ka loaʻa ʻana o kēia maʻi?

Inā loaʻa i kekahi o kou mau mākua ka Turcot Syndrome, ʻoi aku ka nui o kou manawa e loaʻa ai ke ʻano. A i ʻole, he mea lawe genetic paha ʻoe. ʻO ka lilo ʻana i mea lawe genetic ʻo ia hoʻi ʻaʻohe ou hōʻailona, ​​​​akā loaʻa iā ʻoe ka gene e hoʻokumu ai i ke ʻano, no laila hiki i kāu mau keiki ke hoʻoili iā ia.

Inā kānalua ʻoe he Turcot Syndrome paha kou, e paipai paha kāu kauka i ka hoʻāʻo DNA. Hiki i kēia ke nānā i ke alo o ka mutation gene pili.

He aha ka mea e hana ʻia ke ola ʻoe me kēia maʻi? He mea hiki ʻole ke ho'ōla ʻia?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no ka Turcot Syndrome. Inā loaʻa iā ʻoe kēia maʻi, ʻo ka mea nui loa, ʻo ia ke hana pū me kāu kauka e loaʻa nā hoʻokolohua maʻamau no nā ʻōpū lolo a me ke kanesa colorectal. ʻO ka mua o kou ʻike ʻana i kahi mea e like me ke kanesa, ʻoi aku ka maikaʻi o kou manawa kūpono e loaʻa ai kahi hopena holomua. No laila, he mea nui e pale aku i ka hopohopo a hahai i ka ʻōlelo aʻo a kāu kauka.

Nā nīnau koʻikoʻi e nīnau aku i kāu kauka

Hiki iā ʻoe ke nīnau i kāu kauka i kekahi mau nīnau e like me kēia:

• He aha ke kumu kūpono loa o koʻu mau hōʻailona?
• He aha nā hoʻokolohua e pono iaʻu e hana e ʻike pono ai inā loaʻa iaʻu ka Turcot Syndrome?
• He mea lawe anei au i ka gene no kēia maʻi?
• He aha nā koho lapaʻau no ka Turcot Syndrome?
• He aha ka mea e hiki ke hana inā ʻaʻole wau e loaʻa i ka lāʻau lapaʻau?
• He aha nā manawa kūpono e loaʻa iaʻu kahi keiki me ka Turcot Syndrome?

E hoʻomanaʻo, ʻaʻole maʻamau nā puʻupuʻu lolo e like me ka glioblastoma i hoʻoilina. Eia nō naʻe, hiki i ka poʻe me nā maʻi hoʻoilina e like me ka Turcot Syndrome ke loaʻa i kēia mau puʻupuʻu i kekahi manawa.

ʻO ka mea hope loa, kekahi mau mea e hoʻomanaʻo ai

He maʻi laha ʻole ka Turcot Syndrome, he maʻi genetic e hoʻoulu ai i nā ulu liʻiliʻi i loko o nā ʻōpū (polyps) a me nā puʻupuʻu i loko o ka lolo a i ʻole ke kaula kuamoʻo. ʻOkoʻa ke ʻano o ka mālama ʻana ma muli o nā hōʻailona. Pono paha ʻoe i ke ʻoki ʻana e wehe i kahi ʻāpana o kou mau ʻōpū a i ʻole kahi puʻupuʻu i loko o kou lolo a i ʻole ke kaula kuamoʻo. ʻOiai ʻaʻohe lāʻau lapaʻau no kēia maʻi, ʻo ka nānā ʻana i kāu mau hōʻailona, ​​​​ka loaʻa ʻana o nā hoʻokolohua maʻamau , a me ka loaʻa ʻana o ka lāʻau lapaʻau i ka wā mua e hiki ke kōkua iā ʻoe e hoʻokele i kou kūlana. No laila, he mea nui e mālama i kou olakino.

ʻO Turcot Syndrome, nā maʻi genetic, nā polyps ʻōpū, nā puʻupuʻu lolo, ka pilikia o ka maʻi kanesa, ka hoʻāʻo genetic