ʻEha ka ʻōpū, ke koko i loko o ka ʻōpala? Hiki paha iā ia ke Juvenile Polyposis Syndrome (JPS)

Loaʻa iā ʻoe a i ʻole kekahi o kou ʻohana, ʻoi aku hoʻi he keiki, ka ʻeha pinepine o ka ʻōpū? Ua ʻike anei ʻoe i kahi koko liʻiliʻi i loko o kou ʻōpala? A i ʻole ke luhi nei ʻoe a me ka palaualelo? Hoʻokuʻu pinepine mākou i kēia mau hōʻailona me he ʻeha ʻōpū maʻalahi a i ʻole ka ʻai ʻole. Eia nō naʻe, i kekahi manawa hiki ke hana ʻia kēia mau hōʻailona e kahi kūlana i lohe ʻole ʻia e mākou, akā pono mākou e makaʻala. I kēia lā e kamaʻilio mākou e pili ana i kekahi o ia ʻano kūlana, ʻo Juvenile Polyposis Syndrome (JPS).

He aha maoli ka JPS?

I ka ʻōlelo maʻalahi, ʻo ka Juvenile Polyposis Syndrome (JPS) kahi maʻi genetic kahi e ulu ai nā ulu kūpono ʻole ma nā paia o loko o kā mākou ʻōnaehana hoʻoheheʻe (gastrointestinal - GI tract). Kapa mākou i kēia mau ulu ʻana he polyps . E noʻonoʻo i kahi puʻupuʻu liʻiliʻi e like me ka hua waina e kau ana mai kahi kumu i loko o ko mākou ʻōpū. Pēlā kēia mau polyps e hana ʻia ai.

Hiki i kēia mau polyp ke hana ʻia ma nā wahi āpau o kā mākou ʻōnaehana hoʻoheheʻe.

• ʻōpū
• I loko o ka ʻōpū liʻiliʻi
• I loko o ka ʻōpū nui (colon)
• ʻUmiʻumi

Akā ʻike pinepine ʻia lākou ma ka ʻōpū nui a me ka rectum. Hiki i kekahi kanaka me JPS ke loaʻa i kekahi mau polyps a i ʻole nā ​​​​haneli.

I kēia manawa, manaʻo paha ʻoe no ka mea aia ka huaʻōlelo "juvenile" i loko, he maʻi kēia e hoʻopilikia wale ana i nā keiki ʻōpio. ʻAʻole maoli. ʻAʻole pili ka huaʻōlelo "juvenile" ma ʻaneʻi i ka makahiki e ulu ai ka maʻi. Pili ia i ke ʻano o nā ʻāpana i ʻike ʻia i ka wā e lawe ʻia ai ka polyp a nānā ʻia ma lalo o kahi microscope. Eia nō naʻe, ʻo ka hapa nui o ka manawa, hoʻomaka nā hōʻailona o kēia maʻi e ʻike ʻia i ka wā kamaliʻi a i ʻole ka wā ʻōpio , ma mua o ka makahiki 20.

Aia kekahi mau ʻano nui o JPS?

ʻAe, hiki ke hoʻokaʻawale ʻia ʻo JPS i ʻekolu ʻano nui. Hoʻokumu ʻia kēia mau hoʻokaʻawale ʻana ma ka nui o nā polyp e hana ʻia a me ko lākou wahi.

ʻO wai ka mea i loaʻa i kēia maʻi? He maʻi hoʻoilina anei?

Hoʻokumu ʻia ʻo JPS e kahi hoʻololi genetic, no laila hiki i kekahi ke loaʻa iā ia. He maʻi kakaikahi loa ia. Ma ka honua holoʻokoʻa, ʻo ka nui o ka maʻi ma kahi o hoʻokahi i loko o hoʻokahi haneli tausani .

ʻAe, hiki ke hoʻoilina ʻia kēia maʻi. ʻO JPS ka mea a mākou e kapa nei ma ke ʻano lapaʻau he kūlana "autosomal dominant". ʻO ke ʻano o kēia, inā hoʻoilina ke keiki i hoʻokahi kope o ka gene mutated no kēia maʻi mai ka makuahine a i ʻole ka makuakāne, ua lawa ia no ke keiki e loaʻa ai kēia maʻi.

• Ma kahi o 75% o nā maʻi JPS e hoʻoilina i ke ʻano mai ko lākou mau mākua mai.
• I ke koena o 25% o nā hihia, hiki ke loaʻa ka maʻi ma muli o kahi mutation kūlohelohe i loko o ke kino o ke keiki, ʻoiai ʻaʻole i loaʻa i nā mākua kēia mutation gene.

He aha nā hōʻailona o JPS?

ʻO ka hōʻailona nui o kēia maʻi, ʻo ia ka hoʻokumu ʻia ʻana o nā polyps, a mākou i kamaʻilio ai ma mua, i loko o nā ʻōpū. ʻOiai ua hoʻokumu ʻia kēia mau mea i loko o ke kino, ʻaʻole hiki iā mākou ke ʻike iā lākou mai waho. I ka hapanui o nā hihia, ʻaʻole paha e hōʻike nā polyps i kekahi mau hōʻailona a hiki i ko lākou lilo ʻana i mea nui iki a i ʻole ka piʻi ʻana o ko lākou helu. Akā i ka wā e hoʻomaka ai nā hōʻailona e ʻike ʻia, hiki iā lākou ke nānā aku penei.

Nā ʻano ʻē aʻe i ʻike ʻia i ka wā hānau

Ma kahi o 15% o nā maʻi JPS i loaʻa nā ʻano kino ʻē aʻe i ka wā hānau ma waho aʻe o nā polyps intestinal.

• Lehelehe māwae a me ka lehelehe
• Loaʻa nā manamana lima a i ʻole nā ​​​​manamana wāwae keu (Polydactyly)
• Nā ʻano ulu ʻole o ka lolo, ka puʻuwai, a i ʻole ka ʻōnaehana urinary
• Ka wili ʻana o nā ʻōpū (Malrotation)

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

ʻO kēia ka mea nui e ʻike ai e pili ana i kēia maʻi. ʻO nā polyps i ulu ma muli o JPS ʻaʻole ia he maʻi kanesa (benign) i ka wā mua. He mau puʻupuʻu maʻamau lākou. Eia nō naʻe, i ka hala ʻana o ka manawa, aia kahi pilikia kiʻekiʻe loa o ka lilo ʻana o kēia mau polyps i maʻi kanesa.

No laila, ʻoi aku ka nui o ka pilikia o kekahi me JPS i ka hoʻomohala ʻana i nā ʻano maʻi kanesa penei:

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

Mai makaʻu i kēia. ʻAʻole kēia manaʻo e loaʻa i nā kānaka a pau ka maʻi kanesa. Akā, ʻo ia hoʻi, ʻoi aku ka nui o ka pilikia. ʻO ia ke kumu he mea nui loa ka ʻike ʻana i ka maʻi i ka manawa kūpono a me ka nānā ʻana i nā manawa kūpono e like me ka ʻōlelo a kāu kauka.

He aha ke kumu kūikawā o JPS?

E like me kā mākou i kūkākūkā ai ma mua, he maʻi hoʻoilina kēia. Hoʻokumu nui ʻia ʻo JPS e nā mutations i ʻelua mau genes i loko o ko mākou kino i kapa ʻia ʻo BMPR1A lāua ʻo SMAD4 .

No ka hoʻomaopopo ʻana i kēia, e hoʻohana kākou i kahi laʻana maʻalahi. E noʻonoʻo e like nā pūnaewele i loko o ko kākou kino me nā kaʻa ma ke alanui. ʻElua mau genes i kapa ʻia ʻo BMPR1A a me SMAD4 e like me nā mākaʻi kaʻa. Hoʻomalu lākou i ka ulu ʻana o nā pūnaewele a me ka mahele ʻana, e hāʻawi ana i nā hōʻailona "OK, māhele i kēia manawa" a me "OK, kū i kēia manawa."

Ke loli kēia mau ʻano ʻelua, e like me ka wā e nalowale ai kēlā mau mākaʻi kaʻa, nalowale ke kaohi o nā pūnaewele. Hoʻomaka lākou e māhele i nā ʻano a lākou e makemake ai, a me ka wikiwiki. Pēlā e hui pū ai kēia mau pūnaewele māhele i kāohi ʻole ʻia a hana i kēia mau puʻupuʻu i kapa ʻia he polyps.

Ma waho aʻe o JPS, ʻo ka poʻe me nā mutations i loko o ka gene SMAD4 e pilikia ana i ka hoʻomohala ʻana i kahi maʻi genetic ʻē aʻe i kapa ʻia ʻo hereditary hemorrhagic telangiectasia (HHT).

Pehea e ʻike ai i kēia maʻi?

Ke haʻi aku ʻoe i kāu kauka e pili ana i kāu mau hōʻailona, ​​e nānā ʻo ia iā ʻoe a nīnau e pili ana i kou mōʻaukala olakino ʻohana. No ka ʻike ʻana iā JPS, pono ʻoe e loaʻa i hoʻokahi o kēia mau mea:

• Loaʻa he ʻelima a ʻoi aku paha nā polyp i loko o ka ʻōpū nui a/a i ʻole ka rectum.
• ʻO ke alo o nā polyps ma nā wahi ʻē aʻe o ka ʻōnaehana hoʻoheheʻe.
• Loaʻa ma ka liʻiliʻi hoʻokahi polyp a me ka mōʻaukala ʻohana o JPS.

ʻElua mau hoʻokolohua nui e hōʻoia i kēia maʻi.

1. Hoʻokolokolo Endoscopic / Colonoscopy: Pili kēia i 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 a me ke ala ʻai. Hiki i kēia ke kōkua i ka ʻike inā he mau polyp, ehia mau mea, a me ko lākou wahi. I ka wā o ka hoʻokolokolo, hiki ke wehe ʻia nā polyp liʻiliʻi a hiki ke lawe ʻia kahi hāpana ʻiʻo (biopsy) no ka hoʻāʻo ʻana.

2. Hoʻāʻo koko genetic: Lawe ʻia kahi hāpana koko a hoʻāʻo ʻia no nā hoʻololi ʻana o ka gene BMPR1A a i ʻole SMAD4 e hoʻoulu ai i ka JPS. Hiki i kēia ke hōʻoia i ka maʻi 100% o ka manawa.

He aha nā lāʻau lapaʻau no JPS?

ʻO ka pahuhopu nui o ka mālama ʻana iā JPS ka wehe ʻana i nā polyp.Hiki i kēia ke kāohi i nā hōʻailona a hōʻemi i ka pilikia o ka loaʻa ʻana o ka maʻi kanesa i ka wā e hiki mai ana. Na kāu kauka e hoʻoholo i ka lāʻau lapaʻau maikaʻi loa nāu ma muli o kou makahiki, olakino, ka helu o nā polyps, a me ko lākou wahi.

Aia kekahi mau ʻano lapaʻau:

• Ka wehe ʻana i nā polyps i ka wā o ka colonoscopy: Inā he kakaikahi nā polyps a he liʻiliʻi ka nui, hiki ke ʻoki ʻia a wehe ʻia me ka mea hana like i hoʻohana ʻia e hana i ka hoʻokolokolo ʻana.
• Wehe ʻana i nā polyps ma ke ʻoki kino: Inā nui nā polyps a i ʻole aia ma kahi paʻakikī ke hiki aku me kahi colonoscope, pono paha ke ʻoki kino.
• Wehe ʻoki ʻana i kahi ʻāpana o ke kolona: Inā nui ka nui o nā polyp i hoʻolaha ʻia ma kahi hoʻokahi, hiki i nā kauka ke hoʻoholo e wehe ʻoki i kēlā ʻāpana holoʻokoʻa o ke kolona.

Inā hoʻokahi wale nō polyp a nā keiki ʻōpio, wehe pinepine ʻia ia i ka wā o ka colonoscopy. ʻAʻole hana pinepine ʻia ke ʻoki ʻana ma nā keiki.

Pehea e mālama ai i ka maʻi ma hope o ka hōʻoia ʻana?

He kūlana koʻikoʻi ka JPS e pono ai ke mālama ʻia no ka wā lōʻihi. Ma hope o ka mālama ʻana a me ka wehe ʻana i nā polyps, pono mākou e nānā mau ʻia e ʻike inā e ulu hou mai ana lākou a i ʻole e kū mai ana nā mea hou. ʻO ia ke kumu e hana ai mākou i nā nānā ʻana .

E haʻi aku kāu kauka iā ʻoe e hana i kēia mau hoʻokolohua ma kahi papa manawa i hoʻonohonoho ʻia.

• Nā hoʻāʻo koko
• Kolonoskopi
• ʻO ka endoscopy luna

Hana pinepine ʻia ka hoʻāʻo mua i ka wā e ʻike ʻia ai nā hōʻailona a i ʻole ma mua o 15 mau makahiki. Inā maikaʻi nā hopena o ka hoʻāʻo, e noi ʻia ʻoe e hana hou i ka hoʻāʻo i kēlā me kēia 3 mau makahiki. Eia nō naʻe, inā he mau polyp kou a ua wehe ʻia lākou, pono paha ʻoe e hana i kahi hoʻāʻo i kēlā me kēia makahiki . Inā ʻaʻole hoʻi mai nā polyp, hiki ke hoʻonui ʻia ka manawa ma waena o nā hoʻāʻo i 3 mau makahiki.

Āhea ʻoe e pono ai e ʻike i ke kauka?

Inā loaʻa iā ʻoe kekahi o nā hōʻailona a mākou i kūkākūkā ai, ʻoiai ke koko i loko o kou ʻōpala , mai hoʻowahāwahā iā ia. Hiki ke lilo i hemorrhoid maʻalahi, a i ʻole he hōʻailona paha ia o kahi maʻi koʻikoʻi e like me JPS. No laila, e ʻike koke i kāu kauka.

Eia kekahi, inā ua loaʻa i kekahi o kou ʻohana ka JPS ma mua, a inā ua loaʻa iā ʻoe ka maʻi ʻōpū i kou wā ʻōpiopio, he mea naʻauao ke kamaʻilio me kāu kauka e pili ana i ia mea a loaʻa ka hoʻāʻo genetic inā pono, ʻoiai inā ʻaʻohe ou hōʻailona.