E aʻo kākou e pili ana i nā puʻupuʻu liʻiliʻi e hana ʻia i loko o nā ʻōpū? - Juvenile Polyposis Syndrome (JPS)

E makaʻu loa kekahi inā ʻike lākou i ke koko i loko o ko lākou ʻōpala, ʻoi aku hoʻi i loko o kahi keiki liʻiliʻi. A i ʻole ke hopohopo nei ʻoe no nā mea e like me ka ʻeha mau o ka ʻōpū, ka pehu ʻana, a me ka luhi? I kekahi manawa hiki i kēia ke lilo i mau hōʻailona o kahi maʻi genetic a mākou e kamaʻilio ai i kapa ʻia ʻo Juvenile Polyposis Syndrome (JPS). Mai makaʻu ʻoiai ke kani iki nei ka inoa. ʻOiai ʻaʻole kēia he maʻi maʻamau, he mea nui e makaʻala iā ia. E kamaʻilio kākou e pili ana i ia mea ma ke ʻano maʻalahi hiki iā ʻoe ke hoʻomaopopo.

I ka ʻōlelo maʻalahi, he aha ka Juvenile Polyposis Syndrome (JPS)?

I ka ʻōlelo maʻalahi, ʻo JPS kahi maʻi genetic e hoʻoulu ai i nā ulu liʻiliʻi i kapa ʻia he polyps e hana ma nā paia o kā mākou ʻōnaehana hoʻoheheʻe (gastrointestinal (GI) tract) . Ua like kēia me nā hua liʻiliʻi e kau ana mai kahi kumu liʻiliʻi.

Hiki i kēia mau polyp ke ulu ma nā wahi āpau o ka ʻōnaehana hoʻoheheʻe, akā ʻike pinepine ʻia lākou ma:

• ʻōpū nui (kolon)
• ʻUmiʻumi

Eia kekahi, hiki iā lākou ke ulu i kekahi manawa i loko o ka ʻōpū a me ka ʻōpū liʻiliʻi. Hiki i kekahi kanaka me JPS ke loaʻa i kekahi o kēia mau polyps, i kekahi manawa ʻoi aku ma mua o hoʻokahi haneli.

Ke ʻōlelo kākou "ʻōpio," ke manaʻo nei anei kēia he maʻi kēia e hoʻopilikia wale ana i nā keiki ʻōpio?

He nīnau kēia a ka poʻe he nui e noʻonoʻo nei. Ke lohe mākou i ka huaʻōlelo "juvenile," manaʻo mākou i nā kamaliʻi ʻōpio a me nā mākua ʻōpio. Eia naʻe, ʻaʻole hoʻohana ʻia ka huaʻōlelo ma ʻaneʻi e pili ana i ka makahiki o ka mea maʻi. Hāʻawi ʻia ka inoa ma muli o ke ʻano o kēia mau polyp ma lalo o kahi microscope (ke ʻano o kā lākou mau cell).

Eia naʻe, ʻo ka mea nui loa, ʻo ia ka hoʻomaka pinepine ʻana o nā hōʻailona o JPS e ʻike ʻia ma mua o ka piha ʻana o nā makahiki he 20 , ʻo ia hoʻi, i ka wā kamaliʻi a i ʻole ka wā ʻōpio. No laila, manaʻo paha kekahi he kūpono iki kēia inoa.

Aia kekahi mau ʻano nui o JPS?

ʻAe, hiki ke hoʻokaʻawale ʻia ʻo JPS i ʻekolu ʻano nui. He ʻokoʻa iki kēlā me kēia ʻano mai kekahi. E nānā kākou i ke ʻano o lākou.

He maʻi hoʻoilina anei kēia?

ʻAe, he maʻi hoʻoilina ʻo JPS. Hoʻoili ʻia ia ma ke ʻano autosomal dominant . I kēia manawa ke noʻonoʻo nei paha ʻoe i ke ʻano o kēia autosomal dominant.

Ma kahi o 75% o nā maʻi JPS e hoʻoilina iā ia mai ko lākou mau mākua ma kēia ʻano. Akā ma kahi o 25% o nā hihia, ua hoʻokumu ʻia ia e kahi hoʻololi genetic hou i loaʻa ʻole i kekahi o ka ʻohana ma mua. ʻO ke ʻano kēia hiki i kekahi ke hoʻomohala iā ia ʻoiai inā ʻaʻohe mea o ka ʻohana i loaʻa iā ia.

He aha nā hōʻailona o JPS?

ʻO ke ʻano nui o JPS nā polyps a mākou i kamaʻilio ai ma mua. Ulu kēia mau mea i loko o ke kino, no laila ʻaʻole hiki iā mākou ke ʻike iā lākou mai waho. Eia nō naʻe, he mea kakaikahi loa, hiki ke ʻike ʻia kekahi mau polyps ma waho o ka rectum.

ʻO ka hapa nui o ka manawa, ʻike ʻia nā hōʻailona ke ulu ka nui a i ʻole ka nui o nā polyp. ʻO kēia mau polyp ka mea e pono ai mākou e hopohopo.

Nā ʻano ʻē aʻe i loaʻa i kekahi mau keiki i ka wā hānau

Ma kahi o 15% o nā maʻi JPS e loaʻa paha nā ʻano kino ʻē aʻe i ka wā hānau ma waho aʻe o nā polyps. ʻO kēia mau mea:

• Lepe ʻāʻī
• Loaʻa nā manamana lima keu ma nā lima a me nā wāwae (Polydactyly)
• Nā ʻano ulu ʻole o ka lolo, ka puʻuwai, nā ʻōpū, a i ʻole ka ʻōnaehana urinary
• Ka wili ʻana o ka ʻōpū (Malrotation)
• Nā loli i loko o nā kīʻaha koko i loko o ka ʻili (Telangiectasia)

Aia kekahi pilina ma waena o JPS a me ka pilikia o ka maʻi kanesa?

He mea nui loa kēia a he mea pono mākou e makaʻala. ʻO nā polyps i hoʻokumu ʻia e JPS e ulu mua ana ma ke ʻano he mau puʻupuʻu ʻaʻole kanesa (benign) . ʻO ia hoʻi, ʻaʻole lākou he kanesa.

Eia nō naʻe, ʻoi aku ka nui o ka pilikia o ka poʻe me JPS i ka loaʻa ʻana o nā maʻi ʻaʻai o ka ʻōnaehana hoʻoheheʻe ma mua o nā poʻe ʻē aʻe. ʻO kēia ka ʻaoʻao weliweli loa o kēia maʻi. Hiki i ka pilikia ke piʻi aʻe i 30% - 50%.

Nā maʻi kanesa me ka pilikia kiʻekiʻe:

• Ka maʻi ʻaʻai colorectal
• Ka maʻi ʻōpū
• Ka maʻi ʻaʻai pancreatic
• Ka maʻi ʻōpū liʻiliʻi

No ke aha i loaʻa ai ʻo JPS? He aha ke kumu ʻepekema?

Hoʻokumu ʻia ʻo JPS e kahi mutation i loko o kekahi o nā ʻelua genes i loko o ko mākou kino, ʻo BMPR1A lāua ʻo SMAD4 .

E noʻonoʻo i kēia mau genes ʻelua e like me ʻelua "luna hoʻomalu" e kāohi ana i ka hana o kā mākou mau cell. ʻO kā lākou hana nui ka haʻi ʻana i nā cell, "ʻAe, e māhele i kēia manawa" a "ʻAe, e hoʻōki i ka māhele ʻana i kēia manawa." Penei lākou e kāohi ai i ka ulu ʻana o nā cell.

ʻO ka mea e hana ʻia ma JPS, ʻo ia ka wā e hoʻololi ʻia ai kēia mau genes, ʻaʻole hana pono kēlā "luna hoʻomalu". A laila lilo nā cell i waho o ke kaohi. Māhele wikiwiki lākou, puʻu kekahi ma luna o kekahi, a hana i kēlā mau polyps a mākou i ʻōlelo ai.

Pehea e ʻike ʻia ai ʻo JPS?

Inā loaʻa iā ʻoe nā hōʻailona o JPS, e nānā mua kāu kauka iā ʻoe a nīnau e pili ana i kāu mau hōʻailona a inā paha ua loaʻa i kekahi o kou ʻohana nā kūlana like. I mea e ʻike ʻia ai me JPS, pono ʻoe e loaʻa i hoʻokahi o kēia mau mea:

He aha nā hoʻokolohua i hana ʻia no kēia?

E paipai ke kauka i kekahi mau hoʻokolohua e hōʻoia i ka hōʻailona:

• Colonoscopy a i ʻole Endoscopy: ʻO kēia ke komo ʻana i kahi ʻōmole lahilahi a palupalu me kahi kāmela a me ke kukui ma o ka anus e nānā i loko o ka ʻōpū nui. Hiki i kēia ke kōkua i ka hoʻoholo ʻana inā loaʻa nā polyps, kahi o lākou, a me ka nui o lākou. No ka nānā ʻana i ka ʻōpū, hoʻokomo ʻia ka ʻōmole ma o ka waha (Upper GI Endoscopy).

• Hoʻāʻo koko genetic: Lawe ʻia kahi hāpana koko a hoʻāʻo ʻia no nā hoʻololi genetic e hoʻoulu ai i ka JPS.

He aha nā lāʻau lapaʻau no JPS?

ʻO nā pahuhopu nui o ka mālama ʻana no JPS, ʻo ia ka wehe ʻana i nā polyp, kaohi ʻana i nā hōʻailona, ​​a me ka hoʻēmi ʻana i ka pilikia o ka maʻi kanesa. Na kāu kauka e hoʻoholo i ka lāʻau lapaʻau maikaʻi loa nāu ma muli o kou makahiki, olakino, ka helu o nā polyp, a me ko lākou wahi.

Aia kekahi mau ʻano lapaʻau:

• Ke wehe ʻana i nā polyps i ka wā o ka colonoscopy: Inā he kakaikahi wale nō nā polyps, hiki ke ʻoki ʻia a wehe ʻia me ka hoʻohana ʻana i nā mea hana kūikawā i hoʻokomo ʻia ma o ka ʻōmole.
• Ka wehe ʻana i nā polyps ma ke ʻoki kino: Inā nui loa nā polyps a i ʻole aia ma kahi i hiki ʻole ke wehe ʻia i ka wā o ka colonoscopy, pono paha ke ʻoki kino.
• Wehe ʻana i kahi ʻāpana o ka kolona a i ʻole ka ʻōpū: Inā he nui nā polyps ma kahi hoʻokahi, hiki i nā kauka ke hoʻoholo e wehe i kēlā ʻāpana holoʻokoʻa o ka kolona.

Pehea ʻoe e mālama ai i kou ola ma hope o ka ʻike ʻia ʻana o ka maʻi?

ʻAʻohe lāʻau lapaʻau no JPS. No laila, i ka manawa i ʻike ʻia ai, ʻo ka mea nui loa ke aʻo ʻana e noho me ia a mālama i ka maʻi. ʻO ke ala maikaʻi loa e hana ai i kēia, ʻo ia ke hele i nā hoʻokolohua lapaʻau maʻamau.

ʻEhia pinepine e pono ai iaʻu e hoʻāʻo ʻia?

• Pono e hana i ka hoʻāʻo mua ke ʻike mua ʻia nā hōʻailona a i ʻole ma mua o 15 mau makahiki .
• Inā ʻaʻohe pilikia i ka wā o ka hoʻokolokolo mua ʻana (ʻaʻohe polyps), ua lawa ia e hoʻokolokolo ʻia i kēlā me kēia 3 mau makahiki .
• Inā ua loaʻa iā ʻoe nā polyps he nui a ua wehe ʻia a i ʻole ua hana ʻia ke ʻoki kino, pono ʻoe e nānā ʻia i kēlā me kēia makahiki . Inā ʻaʻole i loaʻa hou nā polyps, hiki iā ʻoe ke hoʻololi i ka nānā ʻana i kēlā me kēia 3 mau makahiki, e like me ka ʻōlelo a kāu kauka.

Ma hope o ka lāʻau lapaʻau, pono ʻoe e hāʻawi i kou kino i ka manawa e ho'ōla ai. ʻO ka maʻamau, ʻelua pule ka lōʻihi no ka emi ʻana o nā hōʻailona a hoʻomaka ʻoe e ʻoluʻolu.

I kēlā me kēia manawa e pono ai ʻoe e ʻike i ke kauka.

Inā loaʻa iā ʻoe nā hōʻailona o JPS, ʻoiai ke koko i loko o kou ʻōpala , mai hoʻowahāwahā iā ia. E ʻike koke i ke kauka. Eia kekahi, inā loaʻa i kekahi o kou ʻohana kahi mōʻaukala o nā polyps a i ʻole JPS, e hōʻoia e haʻi i kāu kauka. No ka mea he maʻi hoʻoilina kēia, he mea nui loa kēlā ʻike i ka ʻike ʻana i ka maʻi.