He aha te Familial Adenomatous Polyposis? Tohutohu, Take, me te Maimoatanga

Ko te Familial adenomatous polyposis (FAP) tētahi āhuatanga tuku iho onge e tupu ai ngā rau ki ngā mano o ngā pūngāwerewere iti e kiia nei ko ngā polyps i roto i tōu kōroke me tōu tūtae. He pai ngā polyps i te tīmatanga, engari ka tino pāngia e te mate pukupuku mena kāore i te maimoatia.

Ko tēnei āhuatanga tuku iho e pā ana ki te 1 i roto i ngā 10,000 o te iwi o te ao. Ahakoa ka raru pea te FAP i te wā tuatahi e ako ai koe mōna, ko te mārama ki tō āhuatanga me te mahi tahi me tō rōpū hauora ka āhei te awhina i a koe ki te whakahaere pai me te pupuri i te kounga ora pai.

He aha ngā tohu o te Familial Adenomatous Polyposis?

Ko ngā tohu o te FAP e kore e puta rawa kia tae rawa ki ō tau tekau mā rima tau rānei, ki ō tau rua tekau rānei, ina kua roa te tipu me te maha o ngā polyps. He tokomaha ngā tāngata e pā ana ki te FAP kāore e kite i ētahi tohu i ngā wā tīmatanga, koia tēnei te take nui o te tirotiro tūturu mō ngā whānau e pā ana ki tēnei āhuatanga.

Ina puta mai ngā tohu, ka kite pea koe i ētahi tohu whakatūpato e whakaatu ana kei te hiahia tetahi mea ki te tiaki hauora:

• Te toto i roto i tō tūtae, te toto rānei i tō tūtae
• Ngā huringa i roto i ō tikanga o te kopu, pēnei i te ruaki, te kōpū rānei
• Te mamae o te kopu, te mamae rānei e kore e mutu
• Te ngaro o te taumaha kaore i te whakamārama
• Te ngenge e kitea ana e kino ake ana i te wā
• Te mate toto nā te ngaro o te toto roa

Ko ētahi o ngā tāngata e pā ana ki te FAP e whānau ana hoki ngā pūngāwerewere kaore i te mate pukupuku i ētahi atu wāhanga o tō tinana. Ka uru pea ēnei ki ngā pūngāwerewere iti i raro i tō kiri, ngā niho atu, ngā pūngāwerewere rānei i roto i tō kopu.

Kia mahara, ko te whai i ēnei tohu kāore i te tikanga kei a koe te FAP. He maha ngā take o te pūnaha kai e taea te whakaeke i ngā raruraru rite, no reira he mea nui kia kōrero ki tō tākuta mō ngā mea e pā ana ki a koe.

He aha ngā momo o te Familial Adenomatous Polyposis?

E rua ngā momo matua o te FAP, ā, ko te mārama ki te momo pea kei a koe ka āhei te awhina i tō tākuta ki te hanga i te mahere maimoatanga pai mō tō āhuatanga.

Ko te FAP tuku iho te momo tino noa, kei reira koe e whānau ana i ngā rau ki ngā mano o ngā polyps puta noa i tō kōroke me tō tūtae. Ko te nuinga o ngā tāngata e pā ana ki te FAP tuku iho ka whānau i te mate pukupuku colorectal i mua i te 40 o ō rātou tau mena kāore i tangohia tō rātou kōroke.

Ko te Attenuated FAP (AFAP) he putanga ngawari ake kei reira koe e whānau ana i ngā polyps iti ake, i te tekau ki te rau pea. Ko ngā polyps i roto i te AFAP e puta ana i muri mai i te ora, i te tekau mā wha rānei, i te rima tekau rānei o ō tau, ā, ka puea haere te mate pukupuku.

He momo tino onge ano te tino kino e kiia nei ko te Gardner syndrome, e whakakotahi ana i ngā polyps kōroke o te FAP me ngā pūngāwerewere i ētahi atu wāhanga o tō tinana. Ka whānau pea ngā tāngata e pā ana ki te Gardner syndrome i ngā pūngāwerewere wheua, ngā cysts kiri, me ngā niho atu me ō rātou polyps kōroke.

He aha ngā take o te Familial Adenomatous Polyposis?

Ka puta te FAP nā ngā huringa i roto i tētahi ira motuhake e kiia nei ko te APC, e āwhina ana i te tikanga ki te whakahaere i te tipu me te wehewehe o ngā pūtau i roto i tō kōroke. Ina kore e mahi pai tēnei ira, ka tipu haere ngā pūtau me te hanga i ngā polyps.

Ko te nuinga o ngā tāngata e pā ana ki te FAP e tuku iho ana i te ira he i tetahi o ō rātou mātua. Mena kei tetahi o ō mātua te FAP, he 50% te tūponotanga o te tuku iho o te āhuatanga. E kiia ana tēnei ko te tuku iho autosomal dominant, koia tēnei te tikanga e hiahia ana koe ki tetahi kōpeke o te ira i hurihia kia whānau ai te FAP.

Heoi, ko te 25% pea o ngā tāngata e pā ana ki te FAP kāore he hītori whānau o te āhuatanga. I ēnei take, i puta mai te huringa ira i te wā, i te hanga i te mea e kiia ana e ngā tākuta he 'de novo' mutation.

Ko te ira APC te mahi pēnei i te pehi waka mō te tipu pūtau i roto i tō kōroke. Ina mahi pai ana, ka korero ki ngā pūtau ina mutu te tipu me te wehewehe. Ina he te ira, ka ngaro i ngā pūtau tēnei tohu mutu nui me te pupuri i te maha, ka hanga i ngā polyps.

Nōhea te haere ki te tākuta mō te Familial Adenomatous Polyposis?

Me haere tonu koe ki te tākuta mena ka kite koe i te toto i roto i tō tūtae, ina koa ki te tupu tonu, ki te haere tahi rānei me ētahi atu tohu pēnei i te mamae o te kopu, ngā huringa rānei i roto i ō tikanga o te kopu. Ahakoa he maha ngā take o ēnei tohu, e tika ana tonu te tiaki hauora.

Mena he hītori whānau o te FAP, te mate pukupuku colorectal rānei, he mea nui kia kōrero ki tō tākuta mō te whakamātautau ira me te tirotiro, ahakoa kāore koe e whai tohu. Ko te tīmatanga o te tirotiro i te wā whakamutunga ka taea te hopu i ngā polyps i mua i te riro hei mate pukupuku.

Whakahaere he whakatau wā mena ka pāngia koe e ngā tohu pūnaha kai roa e roa atu ana i ngā wiki torutoru. Ka uru atu ki te ruaki tonu, te kōpū, te mamae o te kopu, te ngaro o te taumaha rānei kaore i te whakamārama.

Kaua e tatari ki te rapu awhina mena kei te raru koe i te hītori whānau o te FAP. Ka taea e ngā kaitohutohu ira te awhina i a koe ki te mārama ki ō tūponotanga me te mahi i ngā whakatau whakamārama mō te whakamātautau me te tirotiro.

He aha ngā take tūponotanga mō te Familial Adenomatous Polyposis?

Ko tō take tūponotanga nui mō te FAP ko te whai i te mātua e whai ana i te āhuatanga, nā te mea he mate tuku iho te FAP. Mena kei tetahi o ō mātua te FAP, he 50% te tūponotanga o te tuku iho o te ira he.

Ko te whai i te hītori whānau o te mate pukupuku colorectal, ina koa ki te puta i te wā taitamariki, ki te pāngia rānei e te maha o ngā mema whānau, ka taea te whakaatu i te FAP i roto i tō lāina whānau. I etahi wā kaore i te kitea te FAP mō ngā whakatupuranga mena i mate ngā mema whānau i te wā taitamariki, kāore rānei i te uru atu ki te tiaki hauora tika.

Ko te tau e takaro ana i te wā e puta mai ai ngā tohu FAP, engari ehara i te mea ka whānau koe i te āhuatanga. Mena kei a koe te ira FAP, ka tīmata te hanga o ngā polyps i roto i ō tau tekau mā rima tau, ahakoa kaore pea koe e kite i ngā tohu kia tae rawa ki ō rua tekau rānei, ki ō toru tekau rānei o ō tau.

Kāore i rite ki ētahi atu āhuatanga hauora, ko ngā take noho ora pēnei i te kai, te whakakori tinana, te wāhi rānei kāore e whakaeke i te FAP. Ka puta mai tēnei āhuatanga tuku iho ahakoa te hauora o tō noho ora, ahakoa ko te pupuri i te hauora pai ka taea te awhina i a koe ki te whakahaere pai i te āhuatanga.

He aha ngā raruraru pea o te Familial Adenomatous Polyposis?

Ko te raruraru tino nui o te FAP ko te mate pukupuku colorectal, e whānau ana i te tata ki te 100% o ngā tāngata e kore e maimoatia te FAP tuku iho, i te nuinga i mua i te 40 o ō rātou tau. Koia tēnei te take e tūtohutia ai te pokanga aukati i mua i te whānautanga o te mate pukupuku.

Ko ngā tāngata e pā ana ki te FAP e whai ana i ētahi atu wero hauora e taea te pā ki ngā wāhanga rerekē o tō tinana:

• Te mate pukupuku o te kopu iti, ina koa i roto i te duodenum (te wāhanga tuatahi o tō kopu iti)
• Ngā polyps kopu me te mate pukupuku kopu pea
• Te mate pukupuku thyroid, ina koa i ngā wāhine e pā ana ki te FAP
• Ngā pūngāwerewere ate e kiia nei ko ngā hepatoblastomas, he onge engari he noa ake i ngā tamariki e pā ana ki te FAP
• Ngā pūngāwerewere roro, ahakoa he tino onge ēnei

Ko ētahi o ngā tāngata e pā ana ki te FAP e whānau ana i ngā pūngāwerewere desmoid, he pūngāwerewere kaore i te mate pukupuku e taea te hanga i roto i tō kopu, tō uma, tō ringa rānei. Ahakoa kaore i te mate pukupuku, ka taea e ēnei pūngāwerewere te tipu nui me te pēhi i ngā okana tata, i etahi wā ka hiahiatia te maimoatanga.

Ko te rongo pai ko te whakahaere me te maimoatanga tika, ka taea te aukati i te maha o ēnei raruraru, te hopu rānei i te wā whakamutunga ina tino taea te maimoatanga. Ko ngā tirotiro tūturu me tō rōpū hauora te ki ki te noho i mua i ngā raruraru pea.

Me pēhea te whakatau i te Familial Adenomatous Polyposis?

Ko te whakatau i te FAP e whakauru ana i te whakamātautau ira, te colonoscopy, me te arotake hītori whānau. Ka tīmata tō tākuta mā te ui i ngā pātai taipitopito mō ō tohu me te mea kei tetahi i roto i tō whānau te mate pukupuku colorectal, te FAP rānei.

Ko te colonoscopy te whakamātautau matua e whakamahia ana ki te titiro ki ngā polyps i roto i tō kōroke me tō tūtae. I roto i tēnei tukanga, ka whakamahi tō tākuta i te pūtau ngawari me te kāmera ki te tirotiro i roto i tō kōroke. Mena ka kite rātou i ngā rau o ngā polyps, ina koa i tetahi i raro i te 50, ka riro te FAP hei tūponotanga kaha.

Ka taea e te whakamātautau ira te whakau i te whakatau FAP mā te titiro ki ngā huringa i roto i te ira APC. Ka whakamahi tēnei whakamātautau i te tauira toto ngāwari ka taea te kōrero ki a koe te tikanga kei a koe te ira FAP. Heoi, kāore te whakamātautau e kite i te huringa ira i te 10-15% pea o ngā tāngata e whai ana i te FAP ma te mārama ki ō rātou tohu.

Ka tūtohu pea tō tākuta i ētahi atu whakamātautau ki te tirotiro i ngā polyps, ngā pūngāwerewere rānei i ētahi atu wāhanga o tō tinana. Ka uru pea ki te endoscopy o runga ki te tirotiro i tō kopu me tō kopu iti, ngā whakamātautau whakaahua rānei ki te titiro ki tō thyroid me ētahi atu okana.

He aha te maimoatanga mō te Familial Adenomatous Polyposis?

Ko te maimoatanga matua mō te FAP ko te pokanga aukati ki te tango i tō kōroke me tō tūtae i mua i te whānautanga o te mate pukupuku. Ka raru pea tēnei, engari ka taea e ēnei pokanga te whakaora i te ora me te tuku i a koe ki te ora i te ora noa, hauora i muri mai.

Ka tūtohu pea tō taote i tētahi o ngā tukanga matua e rua. Ka tangohia e te proctocolectomy katoa me te ileostomy tō kōroke me tō tūtae katoa, ka hangaia he tuwhera i roto i tō kopu kei reira te paru ka puta ki te putea kohikohi. I tetahi atu taha, ka tangohia e te proctocolectomy katoa me te ileal pouch-anal anastomosis tō kōroke me tō tūtae, engari ka hangaia he putea o roto mai i tō kopu iti, ka tuku i a koe ki te whai i ngā nekehanga o te kopu noa.

Ko te wā o te pokanga e whakawhirinaki ana ki ngā take maha, tae atu ki te maha o ngā polyps kei a koe, te whakaatu rānei o ētahi tohu o te riro hei mate pukupuku, me ō tau me tō hauora katoa. Ko te nuinga o ngā tāngata e pā ana ki te FAP tuku iho e whai ana i te pokanga i ō rātou tekau mā iwa tau rānei, ki ō rātou rua tekau tau rānei.

Mena kāore koe e rite ki te pokanga, ki te whai rānei i te Attenuated FAP me ngā polyps iti ake, ka tūtohu pea tō tākuta i ngā rongoā pēnei i te sulindac, te celecoxib rānei. Ka taea e ēnei rongoā te awhina i te whakaheke i te tipu o ngā polyps, ahakoa kaore e taea te aukati i te mate pukupuku katoa, kāore hoki he whakakapi mō te pokanga i ngā take tūponotanga nui.

He mea nui te tirotiro tūturu ahakoa i muri i te maimoatanga. Ka hiahia koe ki ngā colonoscopies tonu o te kōroke e toe ana, me te tirotiro hoki mō ngā mate pukupuku i ētahi atu wāhanga o tō tinana pēnei i tō thyroid, tō kopu, me tō kopu iti.

Me pēhea te whakahaere i te Familial Adenomatous Polyposis i te kāinga?

Ahakoa kaore e taea e koe te aukati, te whakaora rānei i te FAP mā ngā huringa noho ora, ko te tiaki pai i tō hauora katoa ka taea te awhina i a koe ki te pai ake te ahua me te whakaiti i ētahi raruraru pea.

Noho hono atu ki tō rōpū hauora me te pupuri i ō whakatau wā katoa, ahakoa kei te pai koe te ahua. Ko te FAP e hiahia ana ki te tirotiro ora, ā, ko ngā tirotiro tūturu tō parenga pai ki ngā raruraru.

Whakaarohia te uru atu ki tētahi rōpū tautoko mō ngā tāngata e pā ana ki te FAP, ngā āhuatanga mate pukupuku tuku iho rānei. Ko te hono atu ki ētahi atu e mārama ana ki tō wheako ka taea te whakarato i te tautoko ngākau nui me ngā tohutohu mahi.

Pupuri i ngā rēkōta taipitopito o tō hītori hauora, ngā hua whakamātautau, me ngā korero hauora whānau. Ka tino nui ēnei korero mena ka neke koe, ka whakarerekē rānei i ngā tākuta, ā, ka taea te whai hua mō ō tamariki me ētahi atu mema whānau.

Kaua e whakaroa ki te ui i ngā pātai, ki te rapu rānei i tētahi atu whakaaro mō tō mahere maimoatanga. He āhuatanga uaua te FAP, ā, e tika ana kia maia koe, kia whakamāramahia hoki mō ō whakatau tiaki.

Me pēhea te whakarite mō tō whakatau wā tākuta?

I mua i tō whakatau wā, kohikohia ngā korero e taea ana mō te hītori hauora o tō whānau, ina koa ngā take o te mate pukupuku colorectal, ngā polyps, ngā mate pukupuku rānei. Ahakoa ngā kōrero mō ngā whanaunga i mate i te wā taitamariki, i ngā take kaore i te mohiotia rānei, ka taea te whai hua.

Tuhia ō tohu katoa, tae atu ki te wā i tīmata ai, te maha o te putanga, me ngā mea e pai ake ai, e kino ake ai rānei. Kaua e wareware ki te whakahua i ngā tohu kaore pea e hono, pēnei i ngā pūngāwerewere kiri, ngā raruraru niho rānei.

Whakahaerehia tētahi rārangi o ngā rongoā, ngā huaora, me ngā taapiri katoa e inu ana koe. Waihoki, tuhia ngā pātai katoa e hiahia ana koe ki te ui ki tō tākuta, mā te tīmata i ngā mea nui rawa atu mena ka mutu tō wā.

Whakaarohia te kawe mai i tētahi mema whānau, hoa rānei ki tō whakatau wā, ina koa ki te kōrero koe mō te whakamātautau ira, ngā kōwhiringa maimoatanga rānei. Ko te whai i tētahi atu tangata kei reira ka taea te awhina i a koe ki te mahara ki ngā korero nui me te whakarato i te tautoko ngākau.

Mena kei te kite koe i tētahi tohunga mō te wā tuatahi, tonoa tō tākuta tiaki matua ki te tuku i ō rēkōta hauora i mua i te wā. Ka āhei tēnei te whakarite kei a tō tākuta hou ngā korero katoa e hiahia ana rātou ki te whakarato i te tiaki pai.

He aha te mea nui mō te Familial Adenomatous Polyposis?

He āhuatanga tuku iho nui te FAP, engari me te tiaki hauora me te tirotiro tika, ka taea e ngā tāngata e pā ana ki te FAP te ora i ngā ora katoa, hauora. Ko te ki ko te kite i te wā whakamutunga me te maimoatanga whakakāha, i te nuinga e whakauru ana i te pokanga aukati i mua i te whānautanga o te mate pukupuku.

Mena he hītori whānau o te FAP, te mate pukupuku colorectal rānei kaore i te whakamārama, ka taea e te tohutohu ira me te whakamātautau te awhina i a koe ki te mārama ki ō tūponotanga me te mahi i ngā whakatau whakamārama mō tō hauora. Ko te whakauru i te wā whakamutunga e tino whakarerekē ana i tēnei āhuatanga.

Kia mahara kei te whakatau koe i a koe, ā, ko ngā whakapainga i roto i te maimoatanga e pupuri tonu ana i ngā hua mō ngā tāngata e pā ana ki tēnei āhuatanga. Mahi tata atu ki tō rōpū hauora, noho whakamārama mō tō āhuatanga, kaua hoki e whakaroa ki te rapu tautoko ina hiahia koe.

Ngā pātai e ui pinepinetia ana mō te Familial Adenomatous Polyposis

P1: Mena kei ahau te FAP, ka tino whai rānei aku tamariki i tēnei?

Kāo, he 50% te tūponotanga o ia tamaiti ki te tuku iho o te FAP mena kei a koe te ira. Ko te tikanga pea ka whai ētahi o ō tamariki i te FAP, ētahi kāore. Ka taea e te whakamātautau ira te whakatau mena kua tuku iho ō tamariki i te āhuatanga, i te nuinga i te tekau tau, tekau mā rua tau rānei.

P2: Ka taea e au te aukati i te FAP mā te kai, ngā huringa noho ora rānei?

Aroha mai, kāore e taea e koe te aukati i te FAP mā ngā huringa noho ora nā te mea i puta mai i ngā mutations ira. Heoi, ko te pupuri i te kai hauora me te noho ora ka taea te tautoko i tō hauora katoa me te awhina pea i a koe ki te ora ake i ngā maimoatanga pēnei i te pokanga.

P3: Nōhea te hiahia o ngā colonoscopies mena kei ahau te FAP?

Ko te auau e whakawhirinaki ana ki tō āhuatanga motuhake, engari ko te nuinga o ngā tāngata e pā ana ki te FAP e hiahia ana ki ngā colonoscopies i ia 1-2 tau i te tīmatanga o ō rātou tekau tau. I muri i te pokanga aukati, ka hiahia tonu koe ki te tirotiro tonu i te kōroke e toe ana, i te nuinga i ia 1-3 tau.

P4: He nui te pokanga mō te FAP, ā, me pēhea te ora?

Ae, he pokanga kopu nui te pokanga FAP, engari kua pai ake ngā tikanga i ngā tau kua pahure. Ko te nuinga o ngā tāngata e noho ana i te wiki i te hōhipera me te hiahia ki te 6-8 wiki mō te ora katoa. Ko te nuinga o ngā tāngata e hoki ana ki ngā mahi noa, tae atu ki te mahi me te whakakori tinana, i muri i te ora.

P5: Ka taea e au te whānau i ngā tamariki i muri i te pokanga FAP?

Ae, ko te nuinga o ngā tāngata ka taea te whānau i ngā tamariki i muri i te pokanga FAP, ahakoa ko ētahi tukanga pokanga ka pā pea ki te hua. He mea nui kia kōrero ki tō tākuta mō te whakamahinga whānau i mua i te pokanga kia taea ai e rātou te whakaaro ki tēnei i roto i tō mahere maimoatanga. Ko ngā wāhine e pā ana ki te FAP ka taea te whānau i ngā haputanga me ngā whānautanga noa.