Ke loaʻa nei iā ʻoe nā ʻeleʻele a me nā pimples ma kou kino? E kamaʻilio kākou e pili ana i ka Peutz-Jeghers Syndrome (PJS)!

He mau kiko liʻiliʻi a ʻeleʻele paha kāu keiki liʻiliʻi a puni ko lākou mau lehelehe, i loko o ko lākou waha, a i ʻole ma ko lākou mau lima? Manaʻo paha ʻoe he mau kiko wale nō ia. Akā, e kahaha paha ʻoe i ka ʻike ʻana he pili paha kēia mau kiko i kahi ʻano puʻupuʻu e ulu ana i loko o ke kino, ʻoi aku hoʻi i loko o nā ʻōpū. I kēia lā, e kamaʻilio mākou e pili ana i kahi maʻi kakaʻikahi akā koʻikoʻi e makaʻala ai. Ua kapa ʻia kēia ʻo Peutz-Jeghers Syndrome, a i ʻole PJS no ka pōkole.

I ka ʻōlelo maʻalahi, he aha ka Peutz-Jeghers Syndrome (PJS)?

ʻO ka Peutz-Jeghers Syndrome (PJS) kahi maʻi genetic e hoʻoulu ai i nā ulu liʻiliʻi (polyps) e hana i loko o ko mākou kino a me nā kiko ʻeleʻele e ʻike ʻia ma ko mākou ʻili a i loko o ko mākou waha. ʻO ka mea maikaʻi loa, ʻaʻole kēia mau ulu a me nā kiko he maʻi kanesa (benign) . Akā ʻo ka pilikia, ʻoi aku ka nui o ka pilikia o ka poʻe me PJS i ka loaʻa ʻana o ka maʻi kanesa i ka wā e hiki mai ana ma mua o nā poʻe ʻē aʻe.

ʻIke pinepine ʻia kēia mau kiko ʻeleʻele (i kapa ʻia ma ke ʻano lapaʻau ʻo 'mucocutaneous hyperpigmentation') i ka wā kamaliʻi. Akā nalo mālie lākou i ko mākou wā ʻelemakule. ʻO ke ʻano o ka puʻupuʻu aʻu i ʻōlelo ai ('hamartomatous polyps') e ulu pinepine ana i loko o kā mākou ʻōnaehana hoʻoheheʻe ('gastrointestinal tract'). ʻO ia hoʻi, ma nā wahi e like me ka ʻōpū liʻiliʻi, ka ʻōpū, a me ka colon . Akā i kekahi manawa, hiki iā lākou ke ulu ma nā wahi e like me nā puʻupaʻa, ka ʻōpū mimi, nā māmā, a me ka ihu. Hiki i kēia mau puʻupuʻu ke hana i nā pilikia like ʻole, a i kekahi manawa hiki iā lākou ke lilo i maʻi kanesa.

Inā loaʻa iā ʻoe ka PJS, e nānā mau kāu kauka no ka maʻi ʻaʻai a me nā ʻōpū kiʻekiʻe.

Pehea ka maʻamau o kēia maʻi?

He maʻi laha ʻole kēia. ʻOiai ʻaʻole maopopo ka nui o ka poʻe i loaʻa iā ia, ua manaʻo nā kānaka noiʻi e pili ana ia ma waena o hoʻokahi i loko o 300,000 a me hoʻokahi i loko o 25,000 poʻe .

He aha nā hōʻailona o ka PJS?

ʻO ka PJS ke kumu nui o nā kiko ʻeleʻele (i ka wā kamaliʻi) a me nā polyps (i nā keiki a me nā pākeke). E nānā kākou i kēia mau hōʻailona ma ke kaʻawale.

No ke aha e ulu ai kēia PJS? He aha ke kumu?

ʻO ka hapa nui o ka poʻe me PJS he mutation i loko o kahi gene i kapa ʻia ʻo STK11. He gene hoʻopau tumor ʻo STK11. I ka ʻōlelo maʻalahi, ʻo ka hana o kēia gene ka kaohi ʻana i ka ulu ʻana o nā cell i loko o ko mākou kino.

Ma kahi o 80% o ka poʻe me PJS e hoʻoilina i kēia hoʻololi ʻana o ka gene mai ko lākou makuahine a makua paha. ʻO ke koena o 20% ʻaʻohe moʻolelo ʻohana o ka maʻi, akā hiki iā lākou ke hoʻomohala i kēia hoʻololi ʻana o ka gene iā lākou iho. Hoʻomohala kekahi poʻe i ka PJS me ka ʻole o nā loli i ka gene STK11. ʻAʻole maopopo i nā kānaka ʻepekema ke kumu.

Pehea i hoʻoilina ʻia ai kēia maʻi?

ʻO ka maʻamau, hoʻoilina ke keiki i kēia gene i hoʻololi ʻia mai kekahi makua. Hoʻoilina ʻia ia ma ke ʻano "autosomal dominant". ʻO ke ʻano kēia, inā paha e hoʻoilina ka makuahine a i ʻole ka makuakāne i kēia gene "STK11" i hoʻololi ʻia, ua piʻi aʻe ka pilikia o ke keiki i ka loaʻa ʻana o nā hōʻailona PJS a me nā pilikia. Inā loaʻa iā ʻoe kēia mutation gene, he 50% ka manawa kūpono o kāu keiki e hoʻoilina iā ia.

He aha nā pilikia e hiki ke loaʻa mai ka PJS?

ʻO ka pilikia koʻikoʻi loa, ʻo ia ka maʻi kanesa .Wahi a nā kānaka noiʻi, he 93% ka pilikia o ke kanaka me PJS i kona ola holoʻokoʻa e loaʻa ai ka maʻi kanesa. ʻO ia ke kumu e nānā mau ai nā kauka i ka maʻi kanesa a hoʻāʻo e ʻike koke iā ia.

ʻO nā pilikia ʻē aʻe:

• Intussusception: Hana ʻia kēia ke paʻi ʻia kahi polyp nui i loko o ka ʻōpū liʻiliʻi a hoʻoulu i kahi ʻāpana o ka ʻōpū e kūlou i loko. Hiki i kēia kūlana ke hoʻopilikia a hiki i ka 69% o ka poʻe me PJS.
• ʻO ke ālai ʻana o ka ʻōpū liʻiliʻi: Hiki i nā puʻupuʻu ke ālai i ka ʻōpū liʻiliʻi. Ma kahi o 50% o ka poʻe me PJS e loaʻa i kahi ālai ʻōpū koʻikoʻi e pono ai ke ʻoki ʻana ma mua o 20 mau makahiki.
• Ke kahe ʻana o ke koko mai ke ala ʻai: Hiki i nā tumors ke kau i ke kaomi ma luna o ka ʻiʻo o ka ʻōpū a hoʻoulu i ke kahe ʻana o ke koko.
• Anemia nele i ka hao: ʻO ke kahe koko mau e hoʻemi ai i ka hao i loko o ke kino, e alakaʻi ana i ka anemia.

Nā pilikia kūikawā no nā wāhine a me nā kāne

• Nā wāhine: Nā puʻupuʻu ovarian (nā puʻupuʻu sex-cord) a me kahi ʻano maʻi kanesa koʻikoʻi a laha ʻole i kapa ʻia ʻo adenoma malignum, e ulu ana i loko o ka cervix. Hiki i kēia ke hana i nā pōʻaiapuni menstrual kūpono ʻole a i ʻole ka wā ʻōpiopio.
• Nā Kāne: Hiki iā lākou ke hoʻomohala i nā puʻupuʻu i loko o nā testicles (nā puʻupuʻu Sertoli-cell). Hiki i kēia ke kumu o ka ulu ʻana o ka umauma (gynecomastia), ka wā ʻōpiopio mua, a hiki i ko lākou mau iwi ke ulu wikiwiki ma mua o ka maʻamau, a i ka hopena e alakaʻi ai i ke kino pōkole.

PJS a me ka pilikia o ka maʻi kanesa

Hoʻonui nui ka PJS i ka pilikia o ka loaʻa ʻana o nā maʻi kanesa o ka ʻōnaehana hoʻoheheʻe a me nā ʻōpū ʻē aʻe i loko o ke kino. ʻO ka awelika o ka makahiki i ʻike ʻia ai kahi maʻi PJS me ka maʻi kanesa ma kahi o 42 mau makahiki.

Pehea e ʻike ʻia ai ka PJS?

Ua ʻike ʻia ka nui o ka poʻe me ka PJS ma hope o ka ʻike ʻana i ke kauka ma muli o nā hōʻailona e like me ke ālai ʻana o ka ʻōpū a i ʻole ka intussusception. ʻO ka awelika o ka makahiki o ka hōʻoia ʻana ma kahi o 23 mau makahiki. No ka hana ʻana i kahi hōʻoia, ʻimi nā kauka i kēia mau mea:

• Aia kekahi o ka ʻohana me ka PJS?
• Nā kiko ʻeleʻele ma ka ʻili.
• Inā he mau polyp i loko o ka ʻōnaehana hoʻoheheʻe.

Eia kekahi, hiki ke hana i kahi hoʻāʻo genetic e ʻike ai inā loaʻa iā ʻoe ka mutation gene `STK11`.

Nā hoʻāʻo e ʻike i ka maʻi

Hiki i kāu kauka ke paipai i nā hoʻokolohua like ʻole e nānā i nā ʻōpū i loko o kou ʻōpū. ʻO kekahi o lākou:

• Colonoscopy: Ke nānā ʻana i ka ʻōpū nui me ka hoʻohana ʻana i kahi ʻōmole me kahi kāmela.
• ʻO ka endoscopy luna: Ka nānā ʻana i ka esophagus, ka ʻōpū, a me ka ʻaoʻao o luna o ka ʻōpū liʻiliʻi.
• ʻO ka endoscopy capsule: Ke ale ʻana i kahi capsule me kahi kāmela liʻiliʻi i loko. Lawe kēia kāmela i nā kiʻi i kona hele ʻana i lalo o ke ala ʻai.

Hiki iā ʻoe ke lawe i kahi hāpana koko e ʻike ai inā he anemia kou ma muli o ka nele i ka hao.

He aha nā lāʻau lapaʻau no PJS?

ʻAʻole hiki ke ho'ōla loa ʻia ka PJS, no laila ʻo ka pahuhopu nui o ka mālama ʻana, ʻo ia ka nānā ʻana i ka pilikia o ka maʻi kanesa a pale i nā pilikia i hoʻokumu ʻia e ka puʻupuʻu.

Hiki i nā kauka ke wehe i nā puʻupuʻu i loko o ka ʻōpū nui i ka wā o ka colonoscopy. Hiki iā lākou ke wehe i nā puʻupuʻu i loko o ka ʻōpū a me ka ʻaoʻao o luna o ka ʻōpū liʻiliʻi inā pono. I kekahi manawa, hoʻohana ʻia nā kaʻina hana kūikawā e like me ka balloon-assisted enteroscopy e wehe i nā puʻupuʻu e komo ana i loko o ka ʻōpū liʻiliʻi.

I kekahi mau hihia, pono paha ke hana ʻoki e wehe i ka cyst.

He aha nā hōʻike hoʻokolohua e pono ai iaʻu e hana pinepine?

Inā loaʻa iā ʻoe ka PJS, pono ʻoe e hana i nā hoʻokolohua nānā mau i kou ola a pau e ʻike mua i ka maʻi ʻaʻai a me nā pilikia ʻē aʻe. He mea hoʻonāukiuki iki paha kēia, akā he mea nui ia e pale i kou ola.

Hiki ke pale ʻia kēia maʻi?

ʻOiai he maʻi hoʻoilina ka PJS, ʻaʻohe mea hiki iā mākou ke hana e pale aku ai i kona ulu ʻana.

Akā inā loaʻa iā ʻoe ka PJS, ʻo ka mea nui loa hiki iā ʻoe ke hana, ʻo ia ke hoʻomaopopo i kou ʻohana e pili ana i ia mea a kuhikuhi iā lākou no ke aʻo ʻana i nā ʻano genetic . A laila hiki ke hoʻāʻo ʻia lākou no kēia hoʻololi ʻana o ka gene a loaʻa i ka ʻōlelo aʻoaʻo e pono ai lākou e pale aku i ka maʻi kanesa.

Inā loaʻa iā ʻoe ka PJS, he 50% ka manawa e loaʻa ai i kāu keiki. Akā, aia i kēia manawa nā ala e hōʻemi ai i kēlā pilikia. No ka laʻana, inā loaʻa iā ʻoe kahi pēpē ma o ka in vitro fertilization (IVF), hiki ke hoʻohana ʻia kahi ʻenehana i kapa ʻia ʻo preimplantation genetic diagnosis (PGD) e nānā i ka mutation gene i loko o ka embryo. He mau kaʻina hana paʻakikī a pipiʻi hoʻi kēia, no laila he mea nui e kamaʻilio me kāu kauka e pili ana i kēia.