Kei te puta mai ngā ira iti i tō tinana, me ngā puku i roto i tō puku? Me ako tātou mō te Peutz-Jeghers Syndrome (PJS)!

I ētahi wā ka pā mai ngā mea ki ō tātou tinana kāore i te tumanakohia, tika? Whakaarohia he iti ngā ira pango kei tō kiri, kei te taha o te waha, ā, he raruraru puku anō hoki tōu. Kāore pea ēnei mea i te ngāwari pērā i tō whakaaro. I tēnei rā ka kōrero tātou mō tētahi mate e whakaatu ana i ngā tohu rite, he mea onge noa iho, engari he mea tino nui kia mōhiotia. Ko te Peutz-Jeghers Syndrome (PJS) tēnā.

He aha te mate Peutz-Jeghers (PJS)? Kia mārama tātou!

Ki te whakarapopototanga, ko te Peutz-Jeghers Syndrome (PJS) he mate e puta ai ngā tipu iti (polyps) i roto i tō tinana, me ngā ira pango i tō mata, ringa, me ngā kapu o ō waewae. Ehara ēnei tipu me ngā ira i te mate pukupuku, arā, he pai te āhua . Heoi, mā te PJS ka nui ake te tūponotanga ki te pāngia e te mate pukupuku.

Ka kitea ēnei ira pōuri (e kiia ana e te rongoā ko te "mucocutaneous hyperpigmentation") i roto i ngā tamariki nohinohi e pāngia ana e te PJS, engari ka memeha haere i roto i te wā. Ko te momo tipu i kōrerotia e au (e kiia ana ko ngā "hamartomatous polyps") ka puta i roto i tō ara kai (``(Ara GI)''). Ka kitea nuitia i roto i tō whekau iti, puku, me te whekau nui (``(koroni)''). Heoi, ka taea hoki e rātou te puta i waho o te ara kai, pērā i roto i ō whatukuhu, tō pūkahukahu, ō pukahukahu, me tō ihu. Ka taea e ēnei tipu te noho hei mate pukupuku, ā, ka puta he maha ngā raruraru e hiahia ana kia rongoatia.

Mena he PJS tōu, ka tirotirohia e tō tākuta mō te mate pukupuku me ngā pukupuku morearea nui.

He pēhea te noa o tēnei mate PJS?

He uaua ki te kī tika i te whānui o te mate Peutz-Jeghers Syndrome (PJS), nā te mea kāore anō kia whiwhi tau tika ngā kairangahau. Engari e whakaaro ana rātou ka pāngia pea te tangata mai i te 1 i roto i te 300,000 ki te 1 i roto i te 25,000. Nō reira, āe, he mate tino onge tēnei .

He aha ngā tohu o te PJS? Me pēhea te mōhio ki tēnei?

Ko te PJS te pūtake o ngā ira pango (ka kitea ēnei i roto i ngā tamariki nohinohi) me ngā mea e kiia nei ko ngā "polyp hamartomatous" (ka kitea ēnei i roto i ngā tamariki nohinohi me ngā pakeke).

Ngā ira pōuri:

Ka puta ngā ira kikorangi-hina, parauri rānei i roto i ngā tamariki nohinohi e pāngia ana e te Mate Peutz-Jeghers. I ētahi wā ka pohehetia ēnei he ira. Ka tīmata te puta mai o ēnei ira i te 1-2 tau te pakeke o te tamaiti, ā, ka memeha haere i te wā e tae atu ai rātou ki te mutunga o te taiohitanga. Ka rerekē te rahi o ēnei ira mai i te 1 mm (tata ki te rahi o te pito pene koi) ki te 5 mm (tata ki te rahi o te ūkui pene). Ka puta pea i ngā wāhanga rerekē o te tinana:

• I runga, i te taha rānei o ngā ngutu (koinei te mea tino noa)
• I roto i te waha
• Ihu
• Huri noa i ngā kanohi
• Ngā Maihao
• Pupuri
• Ngā Papa
• Huri noa i te nono

Ngā tohu i puta mai i ngā pukupuku i roto i te ara kai:

Ko ētahi atu tohu e pā ana ki ngā tipu (polyps) i roto i te pūnaha nakunaku (ina koa i roto i ngā whekau, i te puku rānei), ngā raruraru rānei i puta mai i aua tipu. I te nuinga o te wā ka puta ēnei tohu ina kei waenganui i te 10 me te 30 tau te pakeke. Ko ngā tohu ka puta mai i ēnei tipu ko:

• Mamae puku (`(Mamae puku)`)
• Whakapairuaki me te ruaki (`(Whakapairuaki me te ruaki)`)
• Te toto o te puku (`(Te toto o te puku)`)
• Toto i roto i tō tūtae (`(Toto i roto i tō tūtae)`)
• Te kore toto (ka heke pea ngā taumata rino i roto i te tinana nā te toto auau)

He aha ngā take o te PJS?

Ko te nuinga o te hunga e pāngia ana e te Mate Peutz-Jeghers he whakarerekētanga (he panoni rānei) kei roto i tētahi tārua o te ira e kiia nei ko te "STK11". Ko tēnei "STK11" he ira pehi pukupuku. Arā, he rite tēnei ira ki tētahi pana e whakahaere ana i te tipu o te pūtau. Ki te kore tēnei ira e mahi tika ana, he rite ki tētahi rama e kā tonu ana, ā, kāore he tangata hei whakaweto. Ka haere tonu te wehewehe me te tipu o ngā pūtau, ka hono tahi hei hanga pukupuku.

Tata ki te 80% o te hunga whai PJS kua riro mai i a rātou te whakarerekētanga ira mai i ō rātou mātua, arā, kua riro mai i a rātou mai i tō rātou whaea, i tō rātou pāpā rānei. Ko ētahi atu 20% kei a rātou te whakarerekētanga ira, engari kāore anō kia pāngia tētahi o ō rātou whānau e te mate i mua, kāore rānei ētahi o rātou i pāngia e te whakarerekētanga ira. Ko te hunga whai whakarerekētanga ira `(STK11)` kāore he hītori whānau, tera pea kua pāngia e te whakarerekētanga ira i tētahi wā o ō rātou oranga. Heoi, kāore anō kia mārama te mōhio o ngā kaipūtaiao me pēhea te whanaketanga o te PJS me te kore te whakarerekētanga ira `(STK11)`.

Nō tehea whakapapa te PJS?

I te nuinga o te wā, ka riro i te tamaiti te ira PJS mai i tētahi mātua he ira whakarerekētanga tōna. Ko te ira whakarerekētanga e puta ai te PJS ka riro i a ia i roto i te tauira autosomal dominant.

Ka pēnei te āhua: Ka tukuna e ngā mātua e rua tētahi tārua o te ira `(STK11)` ki tā rāua tamaiti. Mena kei te nui ake tō tupono ki te whakawhanake i ngā tohumate PJS me ngā raruraru, kua riro mai i a koe tēnei ira kua whakarerekētia i te mātua kotahi anake.

Mena kei a koe tēnei whakarerekētanga ira, e 50% te tūponotanga ka pāngia anō hoki tō tamaiti.

He aha ngā raruraru pea ka pā mai i te PJS?

Ko te raruraru tino kino o tēnei ko te mate pukupuku . E ai ki ngā kairangahau, ki te pāngia koe e te PJS, ka eke te mōrearea o tō oranga ki te whakawhanake i te mate pukupuku ki te 93%. Koia te take ka tirotirohia tonutia koe e tō tākuta mō te mate pukupuku. Pērā ai, ka taea te kite wawe me te rongoā.

Ko ētahi atu raruraru ko:

• Te urunga o te whekau iti ki roto : Koinei te wā e piko ai tetahi wāhanga o tō whekau iti ki roto, pērā i te tōkena e hurihuri ana ki roto. Ka puta tēnei ina ngana tetahi tipu nui (polyp) ki te neke mā roto i te whekau. Ka pā pea tēnei āhuatanga ki te 69% o te hunga whai PJS.
• Te aukati i te whekau iti (`(Te aukati i te whekau iti)`)Ka taea e taua pukupuku te aukati i tō whekau iti. Tata ki te 50% o te hunga whai PJS ka pāngia e ngā aukati whekau e hiahia ana kia pokangahia i mua i te 20 tau te pakeke.
• Te toto o te puku : Ka taea e ngā pukupuku te pēhi i ngā kiko o te ara nakunaku, ka puta te toto.
• Te toto iti o te rino: Ka heke te nui o te rino i roto i te tinana i te wā e toto tonu ana, ā, ka pāngia hoki e te mate toto iti.

I roto i ngā wāhine, ka taea te whakawhanake i tētahi momo pukupuku ovarian e kiia nei ko ngā "tumor sex-cord" me tētahi momo mate pukupuku onge, kino hoki o te kaki o te kōpū e kiia nei ko te "adenoma malignum". Ka taea e ēnei pukupuku te whakararu i ngā huringa paheketanga koretake me te pakeketanga wawe.

Ka taea e ngā tāne te whakawhanake i ngā pukupuku o te momo taura-ira me te pūtau-Sertoli i roto i ō rātou testicles. Ka taea e tēnei te whakawhanake i ngā ū (gynecomastia), te tere o te pakeketanga, ā, ka tere ake te tipu o ō rātou wheua i te mea noa (te pakeketanga angaanga), ā, ka poto ake pea i te mea noa.

He aha te mōrearea o te mate pukupuku e pā ana ki te PJS?

Ka piki ake te tūponotanga o te mate pukupuku o te pūnaha nakunaku me ētahi atu okana e te Peutz-Jeghers Syndrome (PJS). Mēnā ka pāngia te tangata e te PJS e te mate pukupuku, ka kitea i te nuinga o te wā kei te 42 tau te pakeke. Anei ngā momo mate pukupuku e tino kitea ana i roto i te hunga e pāngia ana e te PJS me ō rātou tere:

• Matepukupuku repeure: Tae atu ki te 40%.
• Matepukupuku ū: 30% ki te 50%.
• Matepukupuku repeure (`(Matepukupuku repeure)`): 11% ki te 36%.
• Matepukupuku puku: Tae atu ki te 30%.
• Matepukupuku ovarian ("(Matepukupuku ovarian)`): 20%.
• Matepukupuku pūkahukahu (`(Pūkahukahu)`): 15%.
• Matepukupuku whekau iti (`(Matepukupuku whekau iti)`): Tae atu ki te 13%.
• Matepukupuku waha kōpū (`(Matepukupuku waha kōpū)`): 10%.
• Matepukupuku kōpū: I raro i te 10%.
• Matepukupuku o te kōpū: I raro iho i te 10%.
• Matepukupuku korokoro: 2%.

Kaua e wehi ina kite koe i ēnei ōrau mōrearea. Ko te mea nui ko te whakamātau i te wā tika. Kātahi, mēnā he mea kei te kitea, ka taea te tautuhi me te rongoā wawe.

Me pēhea te tautuhi i te PJS? (Tautuhinga)

Ko te nuinga o te hunga kua tohua he PJS ka kite i te tākuta nā te mea he tohu kei a rātou he aukati puku (bowel obstruction) he intussusception rānei (intussusception whēkau). Ko te tau toharite e tohua ana te PJS he 23 tau te pakeke. Ka rapu ngā tākuta i ngā mea e whai ake nei hei tautuhi i te PJS:

• Te hītori mō te mea he PJS tō tetahi o te whānau.
• Ngā ira pouri i te tinana.
• Ngā polyp i roto i te ara nakunaku.

Kei te tirotirohia hoki e rātou mēnā he whakarerekētanga ira kei roto i te ira `(STK11)`.

He aha ngā whakamātautau e mahia ana hei tautuhi i tēnei mate?

Tērā pea ka whakahaerehia e tō tākuta ngā momo tikanga whakaahua, inā koa ngā whakamātautau e whakamahi ana i te ngongo me te kāmera (he karu tirotiro) hei rapu i ngā pukupuku i roto i tō korokoro. Kei roto pea i ēnei whakamātautau:

• Kōnokoroskopi : Ka tirohia tō whekau nui i tēnei mahi.
• Endoscopy o runga : Ka tirohia tō korokoro, tō puku, me te wāhanga o runga o te whekau iti.
• `(Te tirotiro i te kāpūrua)` : I tēnei, ka horomia e koe tētahi kāpūrua me tētahi kāmera iti kei runga. Ka tangohia ngā whakaahua i a ia e haere ana i roto i tō pūnaha nakunaku.

Ka taea hoki e koe te tango tauira toto hei tirotiro mō te mate toto ngoikore-rino. Ka taea hoki e koe te whakahaere i ngā whakamātautau ira i roto i tō toto hei kimi mēnā kei a koe te whakarerekētanga ira STK11.

Me pēhea te rongoā i te Mate Peutz-Jeghers (PJS)?

Ka tirotirohia e ō tākuta ō whekau, arā, me tirotiro mēnā he mate pukupuku, he raruraru rānei i puta mai i ngā pukupuku.

Ka taea e te colonoscopy te tango i ngā pukupuku i roto i te whekau nui. Mena e tika ana, ka taea hoki te tango i ngā pukupuku i roto i te puku me te wāhanga o runga o te whekau iti (duodenum). I ētahi wā, ka taea te whakamahi i tētahi whakamātautau e kiia nei ko te balloon-assisted enteroscopy hei tiro me te tango i ngā pukupuku i roto i te whekau iti.

I ētahi wā, me mahi pokanga pea hei tango i ngā pukupuku. I te nuinga o te wā ka taea e ngā taote pokanga te tango takitahi i ngā pukupuku, me te kore e tango i ngā wāhanga o te whekau.

He aha ngā momo whakamātautau me haere ahau?

Koinei te wāhanga tino nui. Mēnā he PJS tōu, me whai whakamātautau koe i ia wā, i ia wā. Ahakoa he ahua hoha tēnei, he mea nui kia tiakina tō hauora.

Ko te rārangi whakamātautau whānui e whai ake nei:

• `(Whakamātautau CT/MRI)` me `(whakamātautau kāpūrua ataata)` rānei :
• Me tīmata i te 8-10 tau te pakeke. Mēnā he pukupuku, me mahi anō i ia 2-3 tau.
• Ki te kore he pukupuku, tatari kia 18 tau te pakeke, ka tīmata anō i te whakamātautau, kātahi ka mahi i ia 2-3 tau.
• Ki te mea kua roa rawa, me tīmata i te 12 tau. Ki te mea he hua āu, me mahi i ia tau, i ia 2-3 tau rānei.
• `(Te tirotiro i te pito o runga)` :
• Me tīmata koe i te 12 tau te pakeke. Ki te mea he nati āu, me mahi i ia tau, i ia 2-3 tau rānei.
• `(Te cholangiopancreatography aukume (MRCP))` me te `(te ultrasound endoscopic)` rānei :
• Mai i te 25-30 tau te pakeke, me mahi i ia 1-2 tau.

Ngā whakamātautau motuhake mō ngā wāhine:

• Mai i te 25 tau te pakeke, me tirotiro ō ū e te tākuta kia rua ngā wā i te tau.
• Mai i te 25 tau te pakeke, me mahi he mammogram me te MRI o te ū i ia tau.
• Mai i te 18 ki te 20 tau te pakeke, me whakamātauria ō rātou hope me te Pap smear i ia tau.
• Mai i te 18 ki te 20 tau te pakeke, i ia tau ka whakahaerehia he `(ultrasound transvaginal)` (kāore tēnei i te mea nui, i runga anō i te tohutohu a te taote).

Ngā whakamātautau motuhake mō ngā tāne:

• Mai i te 10 tau te pakeke, me tirotirohia ō hope i ia tau. Me mōhio hoki koe ki ngā huringa e pā ana ki te wahinetanga, pērā i te whanaketanga o ngā ū.

Ka taea te ārai i te mate Peutz-Jeghers (PJS)?

I te mea he tuku iho te PJS, kāore he mea e taea e koe te mahi hei aukati i tōna whanaketanga.

Engari kei reira ētahi mea ka taea e koe te mahi. Mena he PJS tōu, me whakamōhio atu ki ētahi atu mema o te whānau mō tēnei mea, me te whakatenatena i a rātou kia whiwhi tohutohu ira. Mā tēnei aromatawai ka tirohia te whakarerekētanga ira PJS. Mena kei a rātou anō te whakarerekētanga ira STK11, ka whiwhi rātou i ngā taunakitanga hei āwhina i te ārai i te mate pukupuku me te noho hauora.

Mena he PJS tōu, e 50% te tūponotanga ka pāngia hoki tō tamaiti e te whakarerekētanga ira. Engari he huarahi hei whakaiti i taua mōrearea.

Hei tauira, ki te mea kei te whakamahi koe i te whakatōnga in vitro (IVF) hei whānau pēpi, ka hiahia pea koe ki te whakamātau i tētahi tikanga e kiia nei ko te preimplantation genetic diagnosis (PGD). Ko te PGD he whakamātautau i ngā kukune kua whakatōngia mō ngā whakarerekētanga ira.

Heoi, he tukanga uaua, he tukanga utu nui hoki te PGD, nō reira he pai ake te kōrero ki tētahi kaitohutohu ira i mua i te whakatau.

He aha te āhua o te oranga me te mate Peutz-Jeghers? (Outlook)

Kāore e taea te rongoā i te Mate Peutz-Jeghers (PJS). He mate mō te wā katoa , ā, ka taea te tuku iho ki āu tamariki. Mena he PJS tōu, me tirotirohia tonutia koe mō ngā polyp, nā te mea ka taea e rātou te noho hei mate pukupuku, te ārai rānei i te puku e hiahia ana kia pokangahia.

He aha taku e pātai atu ai ki taku tākuta?

Mena he PJS tōu, kaua e wareware ki te pātai atu ki tō tākuta i ēnei pātai:

• He aha ngā momo whakaaturanga me whai ahau? Kia hia ngā wā?
• He aha ngā tohu me whakapā atu ahau ki a koe tonu mēnā ka puta?
• He aha te momo maimoatanga e hiahiatia ana e au?
• He aha te momo tohunga ka mahi tahi māua?
• He aha te pānga o te PJS ki aku mahere whakawhānau tamariki?

He mea tino nui kia mahi tahi te tangata e pangia ana e te Peutz-Jeghers Syndrome (PJS) me tā rātou tākuta hei aroturuki i tō rātou āhua.He wā hoha, he wā ngenge hoki te haere ki ngā wā tirotiro tākuta. Engari he mea nui kia noho mataara tonu koe ki tō hauora. Mā te kitenga wawe i tētahi raruraru pēnei i te mate pukupuku ka āwhina i a koe kia ora hauora ake, kia roa ake te ora. Kōrero ki tō tākuta mō te pānga o tō tātaritanga ki tō āhua noho me tō hauora mō te wā roa.

Ngā mea hei maumahara mā tātou mai i tēnei pūrākau (Karere hei tango ki te kāinga)

Āe, me whakarāpopoto tātou i ētahi o ngā mea tino nui hei maumahara mō te Peutz-Jeghers Syndrome (PJS) kua kōrerohia e tātou:

• He mate ira te PJS e puta ai ngā pukupuku i roto i te tinana, ngā ira i runga i te kiri, me te pikinga ake o te mōrearea ki te mate pukupuku .
• He mea nui kia rapu tohutohu hauora mēnā kei a koe ngā tohu pēnei i te pouri i te waha me ngā peka (ina koa i te tamarikitanga), te mamae o te puku, me te toto i roto i te tūtae.
• I te mea he tuku iho tēnei, ki te mea kei roto i te whānau tēnei mate, he mea pai kia whiwhi ētahi atu i ngā whakamātautau ira me te whai tohutohu .
• Mena he PJS tōu, he mea nui kia tirotirohia koe i ia wā . Ka āwhina tēnei ki te kite wawe i te mate pukupuku me ētahi atu raruraru.
• Ahakoa he mate tēnei mō te wā katoa, mā te tirotiro me te maimoatanga tika a te taote, ka taea e koe te noho i te oranga noa . Kaua e mataku, engari kia mataara.

Mēnā he pātai anō āu mō tēnei, kōrero ki tō tākuta. Ka taea e rātou te tuku tohutohu e tika ana māu.

` Te Mate Peutz-Jeghers, PJS, mate ira, pukupuku puku, ira kiri, mōrearea mate pukupuku, ira STK11, tirotiro koroni, tirotiro endo