Ke loaʻa nei iā ʻoe nā kiko liʻiliʻi ma kou kino a me nā puʻupuʻu i loko o kou ʻōpū? E aʻo kākou e pili ana i ka Peutz-Jeghers Syndrome (PJS)!

I kekahi manawa hiki i nā mea ke hana i ko mākou kino i manaʻo ʻole ʻia, ʻeā? E noʻonoʻo ʻoe a i ʻole kāu keiki he mau kiko liʻiliʻi a ʻeleʻele ma kou ʻili, ʻoi aku hoʻi a puni ka waha, a he mau pilikia ʻōpū kou. ʻAʻole paha e maʻalahi kēia mau mea e like me kou manaʻo. I kēia lā e kamaʻilio mākou e pili ana i kahi maʻi e hōʻike ana i nā hōʻailona like, he mea kakaikahi iki ia, akā he mea nui loa ia e ʻike. ʻO ia ka Peutz-Jeghers Syndrome (PJS).

He aha ka Peutz-Jeghers Syndrome (PJS)? E hoʻomaopopo maʻalahi kākou!

I ka ʻōlelo maʻalahi, ʻo ka Peutz-Jeghers Syndrome (PJS) kahi maʻi e hoʻoulu ai i nā ulu liʻiliʻi (polyps) e hana i loko o kou kino, a me nā kiko ʻeleʻele ma kou maka, nā lima, a me nā kapuwaʻi o kou mau wāwae. ʻAʻole kēia mau ulu a me nā kiko he maʻi kanesa maoli, ʻo ia hoʻi he maʻi ʻole lākou. Eia nō naʻe, ʻo ka loaʻa ʻana o ka PJS e hoʻonui nui i kou pilikia o ka loaʻa ʻana o ka maʻi kanesa.

ʻIke ʻia kēia mau kiko ʻeleʻele (i kapa ʻia ma ke ʻano lapaʻau he "mucocutaneous hyperpigmentation") i nā keiki ʻōpio me PJS, akā mae mālie lākou i ka hala ʻana o ka manawa. ʻO ke ʻano o nā ulu ʻana aʻu i ʻōlelo ai (i kapa ʻia ʻo "hamartomatous polyps") e ulu pinepine ana i loko o kou ʻōpū hoʻoheheʻe ʻana (``(GI tract)''). ʻIke pinepine ʻia lākou i loko o kou ʻōpū liʻiliʻi, ʻōpū, a me ka ʻōpū nui (``(colon)''). Eia naʻe, hiki iā lākou ke ulu ma waho o ke ʻāpana hoʻoheheʻe ʻana, e like me kou mau puʻupaʻa, ka ʻōpū mimi, nā māmā, a me ka ihu. Hiki i kēia mau ulu ke lilo i maʻi kanesa a hoʻoulu i nā pilikia like ʻole e pono ai ka mālama ʻana.

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 kūlana PJS?

He mea paʻakikī ke ʻōlelo pololei i ke ʻano maʻamau o ka Peutz-Jeghers Syndrome (PJS), no ka mea, ʻaʻohe helu pololei a nā kānaka noiʻi. Akā manaʻo lākou e hiki ke hoʻopilikia iā ia mai 1 i 300,000 a i 1 i 25,000. No laila, ʻae, he maʻi laha ʻole loa ia .

He aha nā hōʻailona o ka PJS? Pehea ʻoe e ʻike ai?

ʻO ka PJS ke kumu nui o nā kiko ʻeleʻele (ʻike ʻia kēia mau mea i nā keiki ʻōpio) a me nā mea i kapa ʻia ʻo "hamartomatous polyps" (hiki ke ʻike ʻia kēia mau mea i nā keiki ʻōpio a me nā pākeke).

Nā wahi ʻeleʻele:

Hoʻomohala nā keiki ʻōpio me ka Peutz-Jeghers Syndrome i nā kiko polū-hina a ʻeleʻele paha. I kekahi manawa ua kuhihewa ʻia kēia mau mea he mau freckles. Hoʻomaka pinepine kēia mau kiko e ʻike ʻia i ka wā he 1-2 mau makahiki o ke keiki a mae mālie i ka wā e hiki ai i ko lākou wā ʻōpio. Hiki i kēia mau kiko ke ʻokoʻa ka nui mai 1 mm (e like me ka nui o ka wēlau penikala ʻoi) a i 5 mm (e like me ka nui o ka holoi penikala). Hiki iā lākou ke ʻike ʻia ma nā ʻāpana like ʻole o ke kino:

• Ma luna a puni paha o nā lehelehe (ʻo kēia ka mea maʻamau)
• I loko o ka waha
• Ihu
• A puni nā maka
• Manamana lima
• Paʻa
• Nā ʻaoʻao lalo
• A puni ka anus

Nā hōʻailona i hoʻokumu ʻia e nā tumors i loko o ka ʻōnaehana digestive:

ʻO nā hōʻailona ʻē aʻe e pili ana i nā ulu ʻana (polyps) i loko o ka ʻōnaehana hoʻoheheʻe (ʻoi aku hoʻi i loko o nā ʻōpū a i ʻole ka ʻōpū), a i ʻole nā ​​​​pilikia i hoʻokumu ʻia e kēlā mau ulu ʻana. ʻIke pinepine ʻia kēia mau hōʻailona i kou wā ma waena o 10 a me 30 mau makahiki. ʻO nā hōʻailona e hiki ke hoʻokumu ʻia e kēia mau ulu ʻana:

• ʻEha ʻōpū (`(ʻEha ʻōpū)`)
• Ka luaʻi a me ka luaʻi (`(Ka luaʻi a me ka luaʻi)`)
• Ke kahe koko ʻana o ka ʻōpū (`(Ke kahe koko ʻana o ka ʻōpū)`)
• Koko i loko o kou noho (`(Koko i loko o kou noho)`)
• Anemia (hiki ke emi iho ka nui o ka hao i loko o ke kino ma muli o ke kahe pinepine ʻana o ke koko)

He aha ke kumu o ka PJS?

ʻO ka hapa nui o ka poʻe me ka Peutz-Jeghers Syndrome he mutation (a i ʻole loli) i loko o hoʻokahi kope o kahi gene i kapa ʻia ʻo "STK11". ʻO kēia "STK11" he gene hoʻopau tumor. I nā huaʻōlelo ʻē aʻe, ua like kēia gene me kahi kuapo e hoʻomalu ana i ka ulu ʻana o nā cell. Inā ʻaʻole hana pono kēia gene, ua like ia me ke kukui e hoʻā mau ana a ʻaʻohe mea nāna e hoʻopau. Hoʻomau nā cell i ka māhelehele a me ka ulu ʻana, e hui pū ana e hana i nā tumors.

Ma kahi o 80% o ka poʻe me PJS ua hoʻoilina i ka hoʻololi ʻana o ka gene mai ko lākou mau mākua mai, ʻo ia hoʻi, ua hoʻoilina lākou mai ko lākou makuahine a makuakāne paha. Loaʻa i nā 20% ʻē aʻe ka hoʻololi ʻana, akā ʻaʻohe mea o ko lākou ʻohana i loaʻa i ke ʻano ma mua, a i ʻole ʻaʻohe o kekahi poʻe i loaʻa i ka hoʻololi ʻana. ʻO ka poʻe me ka hoʻololi ʻana o ka gene `(STK11)` me ka ʻole o ka mōʻaukala ʻohana, ua loaʻa paha iā lākou ka hoʻololi ʻana i kekahi manawa o ko lākou ola. Eia nō naʻe, ʻaʻole maopopo i nā kānaka ʻepekema pehea e ulu ai ka PJS me ka ʻole o ka hoʻololi ʻana o ka gene `(STK11)`.

Pehea i loaʻa ai ʻo PJS mai ka moʻokūʻauhau mai?

ʻO ka maʻamau, hoʻoilina ke keiki i ka gene PJS mai kahi makua nona ka mutation gene. ʻO ka mutation e hoʻokumu ai i ka PJS ua hoʻoilina ʻia ma ke ʻano autosomal dominant.

Penei ka hana ʻana: Hoʻoili nā mākua ʻelua i hoʻokahi kope o ka gene `(STK11)` i kā lāua keiki. Inā ʻoi aku kou pilikia o ka loaʻa ʻana o nā hōʻailona PJS a me nā pilikia, pono ʻoe i hoʻoilina i kēia gene mutated mai hoʻokahi makua wale nō.

Inā loaʻa iā ʻoe kēia hoʻololi ʻana o ka gene, aia he 50% ka manawa e loaʻa pū ai i kāu keiki.

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

ʻO ka pilikia koʻikoʻi loa o kēia, ʻo ia ka maʻi kanesa . Wahi a nā kānaka noiʻi inā loaʻa iā ʻoe ka PJS, hiki i kou ola holoʻokoʻa ke piʻi aʻe i ka 93%. ʻO ia ke kumu e nānā mau ai kāu kauka iā ʻoe no ka maʻi kanesa. Ma kēlā ala, hiki ke ʻike mua ʻia a mālama ʻia.

ʻO nā pilikia ʻē aʻe:

• ʻO ka intussusception o ka ʻōpū liʻiliʻi : ʻO kēia ka wā e pelu ai kekahi hapa o kou ʻōpū liʻiliʻi i loko, e like me ka ʻōwili ʻana o kahi sock i loko. Hana ʻia kēia i ka wā e hoʻāʻo ai kahi ulu nui (polyp) e neʻe ma o ka ʻōpū. Hiki i kēia kūlana ke hoʻopilikia a hiki i ka 69% o ka poʻe me PJS.
• ʻŌpū liʻiliʻi (`(ʻŌpū liʻiliʻi)`)Hiki i kēlā puʻupuʻu ke ālai i kou ʻōpū liʻiliʻi. Ma kahi o 50% o ka poʻe me PJS e loaʻa nā ālai ʻōpū e pono ai ke ʻoki ʻana ma mua o 20 mau makahiki.
• Ke kahe koko ʻana o ka ʻōpū : Hiki i nā ʻōpū ke kau i ke kaomi ma luna o nā ʻiʻo o ke ala ʻai, e hoʻoheheʻe ai i ke koko.
• Anemia nele i ka hao: ʻO ke kahe koko mau e hiki ai ke emi i nā pae hao o ke kino, e alakaʻi ana i ka anemia.

I nā wahine, hiki ke ulu kahi ʻano puʻupuʻu ovarian i kapa ʻia ʻo "sex-cord tumors" a me kahi ʻano maʻi ʻaʻai cervical koʻikoʻi a kakaikahi i kapa ʻia ʻo "adenoma malignum". Hiki i kēia mau puʻupuʻu ke hoʻoulu i nā pōʻaiapuni menstrual kūpono ʻole a me ka wā ʻōpiopio.

Hiki i nā kāne ke hoʻomohala i nā puʻupuʻu o ke ʻano sex-cord a me Sertoli-cell i loko o ko lākou mau testicles. Hiki i kēia ke hoʻoulu iā lākou e ulu i nā umauma (gynecomastia), hele i ka wā ʻōpiopio i ka wā mua, a hiki i ko lākou mau iwi ke ulu wikiwiki ma mua o ka maʻamau (makahiki iwi kiʻekiʻe), a hiki paha iā lākou ke pōkole ma mua o ka maʻamau.

He aha ka pilikia o ka maʻi kanesa e pili ana me PJS?

Hoʻonui ka Peutz-Jeghers Syndrome (PJS) i kou pilikia o ka loaʻa ʻana o ka maʻi kanesa o ka ʻōnaehana hoʻoheheʻe a me nā ʻōpū ʻē aʻe. Inā loaʻa i kekahi me PJS ka maʻi kanesa, ʻike pinepine ʻia ia ma kahi o 42 makahiki. Eia nā ʻano maʻamau o ka maʻi kanesa i ka poʻe me PJS a me ko lākou mau helu:

• Ka maʻi ʻaʻai colorectal: A hiki i ka 40%.
• Ka maʻi ʻaʻai umauma: 30% a 50%.
• Ka maʻi ʻaʻai pancreatic (`(Ka maʻi ʻaʻai pancreatic)`): 11% a 36%.
• Ka maʻi ʻōpū: A hiki i ka 30%.
• Ka maʻi ʻōpū (`(Ka maʻi ʻōpū)`): 20%.
• Ka maʻi ʻaʻai māmā (`(Ka maʻi ʻaʻai māmā)`): 15%.
• Ka maʻi ʻōpū liʻiliʻi (`(Ka maʻi ʻōpū liʻiliʻi)`): A hiki i ka 13%.
• Ka maʻi ʻaʻai ʻōpū (`(Ka maʻi ʻaʻai ʻōpū)`): 10%.
• Ka maʻi ʻaʻai o ka ʻōpū: Ma lalo o 10%.
• Ka maʻi ʻaʻai testicular: Ma lalo o 10%.
• Ka maʻi ʻaʻai ʻōpū: 2%.

Mai makaʻu ke ʻike ʻoe i kēia mau pakeneka pilikia. ʻO ka mea nui loa, ʻo ia ka hoʻāʻo ʻia i ka manawa kūpono. A laila, inā he mea, hiki ke ʻike koke ʻia a mālama ʻia.

Pehea e ʻike ai i ka PJS? (Diagnosis)

ʻO ka hapa nui o ka poʻe i ʻike ʻia me PJS e ʻike i ke kauka no ka mea he mau hōʻailona ko lākou o ka pale ʻana o ka ʻōpū (bowel obstruction) a i ʻole intussusception (intestinal intussusception). ʻO ka awelika o ka makahiki i ʻike ʻia ai ka PJS ma kahi o 23 mau makahiki. Ke ʻimi nei nā kauka i kēia mau mea e ʻike ai i ka PJS:

• Ka moʻolelo inā he PJS ko kekahi o ka ʻohana.
• Nā kiko ʻeleʻele ma ke kino.
• Nā Polyps i loko o ka ʻōpū hanu.

Eia kekahi, ke nānā nei lākou e ʻike inā he mutation i loko o ka gene `(STK11)`.

He aha nā hoʻokolohua e hana ʻia e ʻike ai i kēia maʻi?

Hiki i kāu kauka ke hana i nā kaʻina hana kiʻi like ʻole, ʻoiai nā hoʻokolohua e hoʻohana ana i kahi paipu me kahi kāmela (kahi scope) e nānā i nā ʻōpū i loko o kou esophagus. Hiki i kēia mau hoʻokolohua ke komo pū me:

• Colonoscopy : Nānā kēia i kou ʻōpū nui.
• ʻO ka endoscopy kiʻekiʻe : Nānā kēia i kou esophagus, ʻōpū, a me ka ʻaoʻao o luna o ka ʻōpū liʻiliʻi.
• `(Capsule endoscopy)` : Ma kēia, moni ʻoe i kahi capsule me kahi kāmela liʻiliʻi ma luna. Lawe ia i nā kiʻi i kona hele ʻana ma kāu ʻōnaehana hoʻoheheʻe.

Hiki iā ʻoe ke lawe i kahi hāpana koko e nānā no ka anemia nele i ka hao. Hiki iā ʻoe ke hana i nā hoʻokolohua genetic ma kou koko e ʻike ai inā loaʻa iā ʻoe ka mutation gene STK11.

Pehea e mālama ʻia ai ka Peutz-Jeghers Syndrome (PJS)?

E nānā nui kāu mau kauka i kāu mau kino, ʻo ia hoʻi ka nānā ʻana i ka maʻi ʻaʻai a i ʻole nā ​​​​pilikia ʻē aʻe i hoʻokumu ʻia e nā ʻōpū.

Hiki i ka Colonoscopy ke wehe i nā puʻupuʻu i loko o ka ʻōpū nui. Inā pono, hiki ke biopsied a wehe ʻia nā puʻupuʻu i loko o ka ʻōpū a me ka ʻaoʻao o luna o ka ʻōpū liʻiliʻi (duodenum). I kekahi manawa, hiki ke hoʻohana ʻia kahi hoʻāʻo i kapa ʻia ʻo balloon-assisted enteroscopy e ʻike a wehe i nā puʻupuʻu i loko o ka ʻōpū liʻiliʻi.

I kekahi mau hihia, pono paha ke ʻoki kino e wehe i nā puʻupuʻu. Hiki i nā kauka lapaʻau ke wehe i nā puʻupuʻu hoʻokahi, me ka ʻole o ka wehe ʻana i nā ʻāpana o ka ʻōpū.

He aha ke ʻano o nā hōʻike e pono ai iaʻu ke hana?

ʻO kēia ka ʻāpana koʻikoʻi loa. Inā loaʻa iā ʻoe ka PJS, pono ʻoe e hana i nā hoʻokolohua like ʻole i kēlā me kēia manawa. ʻOiai paha he mea hoʻonāukiuki iki kēia, he mea nui ia e pale i kou olakino.

ʻO ka papa hana hoʻāʻo maʻamau penei:

• `(CT/MRI enterography)` a i ʻole `(video capsule endoscopy)` :
• Pono e hoʻomaka i ka makahiki 8-10. Inā he mau puʻupuʻu, e hana hou i kēlā me kēia 2-3 makahiki.
• Inā ʻaʻohe puʻupuʻu, e kali a hiki i kou piha ʻana i 18 mau makahiki a hoʻomaka hou i ka hoʻāʻo ʻana, a laila e hana i kēlā me kēia 2-3 mau makahiki.
• Inā ua lohi loa, pono ʻoe e hoʻomaka i ka makahiki 12. Inā he hua kāu, e hana i kēlā me kēia makahiki, a i ʻole i kēlā me kēia 2-3 makahiki.
• `(Endoscopy luna)` :
• Pono ʻoe e hoʻomaka i ka makahiki 12. Inā he mau nati kāu, e hana ia i kēlā me kēia makahiki, a i ʻole i kēlā me kēia 2-3 makahiki.
• `(Mānetic resonance cholangiopancreatography (MRCP))` a i ʻole `(endoscopic ultrasound)` :
• E hoʻomaka ana i ka makahiki 25-30, pono e hana ʻia i kēlā me kēia 1-2 mau makahiki.

Nā hoʻokolohua kikoʻī no nā wahine:

• Mai ka makahiki 25, e nānā i ka umauma e ke kauka i ʻelua manawa o ka makahiki.
• E hoʻomaka ana i ka makahiki 25, e hana i ka mammogram a me ka MRI umauma i kēlā me kēia makahiki.
• Mai nā makahiki 18 a i 20, e hana i nā hoʻokolohua pelvic a me ka Pap smears i kēlā me kēia makahiki.
• Mai ka makahiki 18 a hiki i ka 20, i kēlā me kēia makahiki he "transvaginal ultrasound" (ʻaʻole pono kēia, ma ke ʻōlelo aʻoaʻo a ke kauka).

Nā hoʻokolohua kikoʻī no nā kāne:

• E hoʻomaka ana i ka makahiki 10, pono ʻoe e hana i kahi hoʻokolokolo testicular i kēlā me kēia makahiki. Pono hoʻi ʻoe e makaʻala i nā loli wahine, e like me ka ulu ʻana o ka umauma.

Hiki ke pale ʻia ka Peutz-Jeghers Syndrome (PJS)?

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

Akā, aia kekahi mau mea hiki iā ʻoe ke hana. Inā loaʻa iā ʻoe ka PJS, e hoʻomaopopo i nā lālā ʻē aʻe o ka ʻohana e pili ana i ia mea a paipai iā lākou e kiʻi i ka ʻōlelo aʻoaʻo genetic. E nānā kēia loiloi no ka hoʻololi ʻana o ka gene PJS. Inā loaʻa iā lākou ka hoʻololi ʻana o ka gene STK11, e loaʻa iā lākou nā ʻōlelo aʻoaʻo e kōkua i ka pale ʻana i ka maʻi ʻaʻai a noho olakino.

Inā loaʻa iā ʻoe ka PJS, aia he 50% ka manawa e loaʻa pū ai i kāu keiki ka hoʻololi ʻana o ka gene. Akā aia kekahi mau koho e hōʻemi i kēlā pilikia.

Eia kekahi laʻana, inā ʻoe e hoʻohana ana i ka hoʻoulu ʻana i loko o ka vitro (IVF) e loaʻa ai kahi pēpē, makemake paha ʻoe e hoʻāʻo i kahi kaʻina hana i kapa ʻia ʻo preimplantation genetic diagnosis (PGD). Pili ka PGD i ka hoʻāʻo ʻana i nā embryos i hoʻoulu ʻia no nā hoʻololi genetic.

Eia nō naʻe, he hana paʻakikī a pipiʻi hoʻi ka PGD, no laila ʻoi aku ka maikaʻi o ke kūkākūkā ʻana i kēia me kahi kākā'ōlelo genetic ma mua o ka hoʻoholo ʻana.

Pehea ke ʻano o ke ola me ka Peutz-Jeghers Syndrome? (Outlook)

ʻAʻole hiki ke ho'ōla ʻia ka Peutz-Jeghers Syndrome (PJS). He maʻi ia no ke ola holoʻokoʻa a hiki ke hoʻoili ʻia i kāu mau keiki. Inā loaʻa iā ʻoe ka PJS, pono ʻoe e nānā mau ʻia no nā polyps, no ka mea hiki iā lākou ke lilo i maʻi kanesa a i ʻole ke kumu o nā ālai ʻōpū e pono ai ke ʻoki ʻana.

He aha kaʻu e nīnau aku ai i kaʻu kauka?

Inā loaʻa iā ʻoe ka PJS, mai poina e nīnau i kāu kauka i kēia mau nīnau:

• He aha ke ʻano o nā hōʻike e pono ai iaʻu? ʻEhia pinepine?
• He aha nā hōʻailona e pono iaʻu e hoʻokaʻaʻike koke aku iā ʻoe inā loaʻa lākou?
• He aha ke ʻano o ka lāʻau lapaʻau e pono ai iaʻu?
• He aha ke ʻano o nā loea e pono ai iaʻu e hana pū me?
• Pehea e pili ai ka loaʻa ʻana o ka PJS i kaʻu mau hoʻolālā hānau keiki?

He mea nui loa i kekahi me Peutz-Jeghers Syndrome (PJS) ke hana pū me kā lākou kauka e nānā i ko lākou kūlana.Hiki i ka hele ʻana i nā manawa kauka maʻamau ke luhi a luhi i kekahi manawa. Akā he mea nui e noho ma luna o kou olakino. ʻO ka ʻike mua ʻana i kahi pilikia e like me ke kanesa hiki ke kōkua nui iā ʻoe e ola i kahi ola olakino a lōʻihi. E kamaʻilio me kāu kauka e pili ana i ka hopena o kāu hōʻailona i kou nohona a me ke olakino lōʻihi.

Nā mea e pono ai kākou e hoʻomanaʻo mai kēia moʻolelo (Leka Lawe-Home)

ʻAe, e hōʻuluʻulu kākou i kekahi o nā mea nui e hoʻomanaʻo e pili ana i ka Peutz-Jeghers Syndrome (PJS) a mākou i kamaʻilio ai:

• He ʻano hoʻoilina ka PJS e hoʻoulu ai i nā puʻupuʻu e hana i loko o ke kino, nā kiko ma ka ʻili, a me ka piʻi ʻana o ka maʻi kanesa .
• He mea nui e ʻimi i ke kōkua lapaʻau inā loaʻa iā ʻoe nā hōʻailona e like me nā kiko ʻeleʻele a puni ka waha a ma nā lālā (ʻoi aku hoʻi i ka wā kamaliʻi), ʻeha o ka ʻōpū, a me ke koko i loko o ka ʻōpala.
• Ma muli o ka hiki ke hoʻoilina ʻia kēia, inā loaʻa i kekahi o ka ʻohana, he manaʻo maikaʻi no nā poʻe ʻē aʻe e loaʻa i ka hoʻāʻo genetic a me ke aʻo ʻana .
• Inā loaʻa iā ʻoe ka PJS, he mea nui e hana i nā hoʻokolohua maʻamau . Hiki i kēia ke kōkua i ka ʻike ʻana i ka maʻi kanesa a me nā pilikia ʻē aʻe i ka wā mua.
• ʻOiai he maʻi kēia no ke ola holoʻokoʻa, me ka nānā pono ʻana a me ka mālama ʻana o ke kauka, hiki iā ʻoe ke ola i kahi ola maʻamau . Mai hopohopo, akā e makaʻala.

Inā he mau nīnau hou aku kāu e pili ana i kēia, e kamaʻilio me kāu kauka. Hiki iā lākou ke hāʻawi iā ʻoe i ka ʻōlelo aʻoaʻo kūpono iā ʻoe.

ʻO ka Peutz-Jeghers Syndrome, PJS, maʻi genetic, nā puʻupuʻu ʻōpū, nā kiko ʻili, ka pilikia o ka maʻi kanesa, ka gene STK11, colonoscopy, endoscopy