He aha te mate McCune-Albright? Me kōrero tātou mōna!

E aro nui ana tātou katoa ki te hauora o ā tātou tamariki, kāore? I ētahi wā, he mea noa te mataku ina kite tātou i ngā huringa iti o te tinana o ā tātou tamariki kāore i te tumanakohia. He ira parauri pea i te kiri, he huringa iti rānei o te whanaketanga o te wheua, he rite rānei ki te tamaiti e uru ana ki te pakeketanga i mua i te wā i whakaarohia. Ehara ēnei i te mea kino i ngā wā katoa, engari i ētahi wā he tohu pea nō tētahi mate ira onge. Ko tētahi mate ira onge, engari he mea tika kia mōhiotia, ka kōrerohia e tātou i tēnei rā ko te McCune-Albright Syndrome.

He aha te mate McCune-Albright?

He whakarāpopototanga noa iho, he mate ira te mate McCune-Albright. Ko te nuinga o te wā ka pā ki ngā wheua, te kiri, me te pūnaha endocrine o te tamaiti, arā, ngā repe e whakaputa ana i ngā homoni . Ka taea e tēnei mate te whakaputa i ngā mea pēnei i te whara o te kiko wheua (e kiia nei e tātou ko te "fibrous dysplasia"). Ka puta hoki he ira motuhake (pigmentation) i runga i te kiri, ā, ka kaha rawa te mahi a ētahi repe e whakahaere ana i te tipu.

Kia maumahara, ko ētahi tamariki kāore pea e tino pāngia e tēnei mate, engari he ngawari noa iho ngā tohu. Heoi, mō ētahi atu, ka nui ake te kino, ā, i ētahi wā ka mate pea. Nō reira, he mea nui kia mōhio ki tēnei.

Ko wai te mea tino pāngia e tēnei āhuatanga?

Ko te mate McCune-Albright te hua o tētahi whakarerekētanga ira hou . Ko te tikanga, ehara i te mea tuku iho mai i ngā mātua ki ngā tamariki. Kāore e taea e tātou te matapae i te wā me te pēhea e puta ai ēnei whakarerekētanga ira. I te nuinga o te wā, ka puta tēnei whakarerekētanga ira i muri i te haputanga/whakatōnga, ina hapu te tamaiti i roto i te kōpū o te whaea, nā te hapa o te wehenga pūtau me te whakaputa uri.

Kia maumahara ki tēnei: ​​Kāore tēnei whakarerekētanga ira i puta mai i tētahi mea i mahia, i kore rānei i mahia e ngā mātua i te wā e hapu ana. Nō reira kaua e manukanuka ki tēnei.

He pēhea te noa o tēnei āhuatanga?

He tino onge te mate McCune-Albright. I te ao whānui, e kiia ana ka pā tēnei mate ki te kotahi i roto i te kotahi rau mano, i te kotahi miriona rānei o ngā whānautanga . Nō reira, ehara i te mea e kitea pinepinetia ana.

He aha te pānga o te mate McCune-Albright ki te tinana o te tamaiti?

Ka pā tēnei āhuatanga ki te tinana o te tamaiti i ngā huarahi maha. Ina koa, ka pā ki te tipu o te wheua me te mahi a te pūnaha endocrine (pūnaha homoni), ka pā ki te teitei me te taumaha o te tamaiti .

Waihoki, tera pea ka kite koe i ngā ira parauri motuhake i runga i te kiri o tāu tamaiti (e kiia nei ko ngā "ira café-au-lait"). Ko tētahi atu mea nui ko ētahi tamarikiE whakaatu ana i ngā tohu o te pakeketanga i te wā taitamariki tonu.

Ki te mea kei te raru tō tamaiti i te tipu me te whanaketanga noa nā ēnei tohu, he mea nui kia rapu tohutohu hauora tonu. Ka whakaratohia e te tākuta he mahere maimoatanga e tika ana mō tō tamaiti, ā, ka āwhina i te whakahaere i ngā tohu.

He aha ngā tohu o te mate McCune-Albright?

Ko ngā tohu o tēnei mate ka kitea nuitia i roto i ngā wheua, te kiri, me te pūnaha endocrine (pūnaha homoni) . Heoi, kāore ēnei tohu e puta mai i te huarahi kotahi, i te kaha rānei i roto i ia tamaiti. Ka rerekē pea i ia tamaiti ki tētahi tamaiti.

Ngā tohu o te wheua

Ko te āhuatanga matua, me te āhuatanga tino kitea o tēnei mate e pā ana ki te wheua, ko te āhuatanga e kiia nei ko te "fibrous dysplasia." He māmā noa iho, koinei te wā e tupu ai te kiko whara i roto i ngā wheua, kaua ki te kiko wheua hauora. Nō reira, i te tipu haere o te tamaiti, ka ngoikore ngā wāhi kei reira tēnei kiko muka. Ka taea e tēnei te arahi ki ngā whatiwhatinga, ka taea rānei e ngā wheua te tipu koretake me te āhua rerekē . I runga i te maha o ngā wheua e pāngia ana, ka taea e tēnei āhuatanga "fibrous dysplasia" te ngawari i roto i ētahi tāngata, ā, ka kino i roto i ētahi atu.

Ko tētahi atu mea, he tino onge, arā, he iti iho i te 1% o te hunga whai mate pēnei, ka taea e tēnei "fibrous dysplasia" te whakaputa i ngā whara/pūngoi wheua matepukupuku. He tino onge, engari he mea pai kia mōhio.

Ko ētahi atu tohu e pā ana ki te wheua ko:

• Te whanaketanga kore taurite o ngā wheua kanohi.
• Te mamae me te kore whakamarie o te wheua.
• Te uaua ki te hikoi, ki te neke rānei (Te ngaronga o te nekenekehanga).
• Ngā mate e ngoikore ai ngā wheua, pērā i te `Rickets` me te `osteomalacia` rānei.
• Te korokoro.
• Te roa poto.
• Te whanaketanga kore ōrite o ngā wheua o ngā waewae (ka pāngia pea koe e te hikoi ngoikore).

Ngā tohu kiri

Ko ētahi pēpi i whānau mai me te mate McCune-Albright he rerekē te tae o te kiri i ērā atu wāhi o tō rātou kiri. Ka rerekē te tae o ēnei ira mai i te parauri mārama ki te parauri pouri . He taha kōpikopiko anō hoki ō rātou. Ka kiia ēnei he ira café-au-lait. Tērā pea ka puta noa i te taha kotahi o te tinana. I te tipu haere o te pēpi, ka nui haere pea ēnei ira, ā, ka nui haere pea.

Ngā tohu o te pūnaha endocrine

Ka pā pea tēnei āhuatanga ki te pūnaha endocrine o te tamaiti, arā, te pūnaha repe e whakaputa ana i ngā homoni. Nō reira, ka taea e ngā tamariki te whakaatu i ngā tohu o te pakeketanga i te wā tino taitamariki . Ko ngā kōtiro, inā koa, ka tīmata te paheketanga i te rua tau te pakeke.Ka puta tēnei nā te mea ka nui rawa te estrogen e whakaputaina ana e ngā whē i roto i ō rātou ovaries, he homoni ira wahine. Ka taea hoki e ngā tama te pāngia e ēnei tohu tōmua o te pakeketanga.

Tata ki te 50% o te hunga e pāngia ana e te mate McCune-Albright he repe tairoi kua rahi . Ina rahi te repe tairoi, ka nui rawa te homoni tairoi e whakaputaina ana. Ka kiia tēnei āhuatanga he hyperthyroidism. Ka puta pea ngā tohu pēnei i te tere o te manawa, te werawera nui, te toto toto tiketike, me te hekenga taumaha .

Ko ētahi atu tohu e pā ana ki te pūnaha endocrine ko:

• Te nui rawa o te whakaputanga o ngā homoni tipu e te repe pituitary. Ka taea e tēnei te whakanui ake i ngā peka, te porotaka o ngā āhua o te kanohi, me/ranei ngā mate e rite ana ki te mate rumatiki (acromegaly).
• He nui rawa te cortisol, te homoni ahotea e whakaputaina ana e ngā repe adrenal. Ka taea e tēnei te arahi ki tētahi āhuatanga e kiia nei ko te mate Cushing, e tohuhia ana e te momona me te whakaroa i te tipu.

He aha te take mō tēnei?

Ko te mate McCune-Albright te take o te whakarerekētanga o te ira GNAS1. Ka whakaputa te ira GNAS1 i ngā pūmua e whakahaere ana i te mahi a ngā homoni. Nō reira, ina puta he whakarerekētanga i roto i tēnei ira, ka tīmata te whākōkī e kiia nei ko te adenylate cyclase (he pūmua anō hoki) ki te whakaputa i te nui rawa o te homoni. Koinei te take o ēnei tohu.

Ko te mea nui, ka puta tēnei whakarerekētanga ira i muri i te haputanga o te tamaiti i roto i te kōpū o te whaea (whakarerekētanga somatic). Ara, ehara tēnei i te āhuatanga tuku iho mai i ngā mātua ki te tamaiti. Ehara tēnei i te mea nā te he o te whaea, o te pāpā rānei, nā tētahi mea rānei i mahia, i mahia rānei e rātou i te wā e hapu ana. Waihoki, kāore anō kia kitea he take kua whakamātauhia mō tētahi tangata e pāngia ana e te mate McCune-Albright, he tamaiti kei a ia anō te āhuatanga. Kāore anō kia kitea te take tuturu mō tēnei "whakarerekētanga somatic". E kī ana ngā rangahau he mea tūpono noa iho ēnei, he mea ohorere.

Me pēhea te tautuhi i tēnei mate?

Ko te mate McCune-Albright ka kitea i te wā tamarikitanga. Ka tirotirohia te tamaiti e te tākuta, ka rapu i ngā āhuatanga rerekē o te pūnaha endocrine, ngā whara kiri pērā i ngā "café-au-lait spots" me te "fibrous dysplasia". Ka kitea te mate i muri i te kitenga o ngā tohu o te pakeketanga wawe, o te whanaketanga wheua rerekē rānei .

He aha ngā momo whakamātautau e mahia ana mō tēnei?

Ko ngā whakamātautau hei tautuhi i tēnei mate ko:

• Ngā whakamātautau toto: Tirohia te mahi a te pūnaha endocrine (pūnaha homoni).
• Whakamātautau ira:Tāutuhia te whakarerekētanga ira e puta ai ō tohu. Ko te tikanga, ko te tango i tētahi tauira iti (koiora) o te kiri, o tētahi atu kiko rānei, ka whakamātautau i taua tauira.
• Ngā whakamātautau whakaahua: Ka mahia ngā whakamātautau pēnei i te hihi-X hei tirotiro i te tipu o te wheua.

Me pēhea te rongoā?

He rerekē te maimoatanga mō te mate McCune-Albright i ia tangata, i ia tangata. Kāore he rongoā mō te mate. Ko te whāinga matua o te maimoatanga he whakaiti me te whakahaere i ngā tohu.

Hei maimoatanga, ka taea te mahi i ngā mahi e whai ake nei:

• Ka whakaitihia te mōrearea o ngā whati wheua e ngā rongoā mō ngā mate tipu wheua, pērā i te bisphosphonates.
• Ngā rongoā hei whakahaere i te pakeketanga o te taiohi, hei tauira, ngā aukati aromatase.
• Ngā rongoā mō te mate 'hyperthyroidism', hei tauira 'antithyroids'.
• E wātea ana te whakaora tinana me te whakaora mahi mō ngā raruraru nekenekehanga.
• Te pokanga mō ngā raruraru tipu wheua, inā koa ko te dysplasia fibrous.

Ka taea e au te whakaiti i te mōrearea o te whakawhanaketanga o tēnei mate i taku tamaiti?

E ai ki tā tātou i kōrero ai i mua, ko te mate McCune-Albright i puta mai i tētahi whakarerekētanga ira hou. Nō reira, kāore he mea e taea e tātou te mahi hei ārai i tēnei mea kei tupu.

Mena kei te hapu koe, he mea pai kia kōrero koe ki tō tākuta mō te tohutohu ira kia kitea ai mēnā kei te mōrearea koe ki ētahi atu mate ira. Heoi, ko tēnei mate, te mate McCune-Albright, ehara i te mea ka taea te ārai i mua.

Mena kei taku tamaiti tēnei mate, he aha taku e tumanako ai?

Ko te āhua o te mate mō tāu tamaiti ka whakawhirinaki ki te kaha o te mate. Heoi, he oranga noa te nuinga o te tangata. Mā tō rōpū hauora koe e āwhina ki te kimi i te maimoatanga pai rawa atu hei āwhina i te whakamama i ngā tohu o tāu tamaiti me te whakaiti i tōna mamae.

Tērā pea he poto ake tō tamaiti i ētahi atu o ō rātou tau nā te mea ka kati wawe ngā pereti tipu nā te pakeketanga wawe. Heoi, ki te kitea wawetia te mate, ā, ka rongoatia, he nui te tūponotanga ka whakaroahia ēnei huringa pakeketanga.

He mea tino nui te aroturuki i ngā taumata whanaketanga o tāu tamaiti kia taea ai e koe te whakarite kei te tika te whanaketanga o tāu tamaiti.

He iti noa te mōrearea o te pangia e te mate pukupuku mai i tēnei mate, nō reira he mea nui kia tirotirohia tō tamaiti e te rata i ia wā.

Ina koa, ko ngā wāhine e pāngia ana e te mate McCune-Albright he nui ake te mōrearea ki te pāngia e te mate pukupuku ū i te wā o mua atu i te wā noa, nō reira he mea nui kia kōrero koe ki tō tākuta mō tēnei mea, kia whiwhi hoki i ngā whakamātautau kua tūtohutia.

Kia pēhea te wā me toro atu ahau ki te tākuta?

Mena kei te whakaatu tāu tamaiti i ngā tohu o te mate McCune-Albright, tirohia he tākuta. Hei tauira:

• Te kore okiokinga pinepine, te hihiko rawa, te pahūtanga ohorere o te riri, me te kore moe (he tohu pea ēnei o te hyperthyroidism).
• Ngā panonitanga ki te āhua o ngā wheua nā te koretake o te tipu o te wheua.
• Te uaua ki te hikoi.
• Ka tīmata te paheketanga i te wā taitamariki tonu.
• Te mamae nui o ngā wheua.

Āwhati! Ki te whakaaro koe kua whati te wheua o tāu tamaiti (hei tauira, te mamae, te pupuhi, te kore e taea te neke, te pikau taumaha rānei, te marutanga), haere tonu ki te rūma āwhati.

He aha ngā pātai me pātai atu koe ki te tākuta?

Kia mōhio koe kei te pāngia tō tamaiti e tēnei mate, he pai pea te pātai atu ki te tākuta i ēnei pātai:

• Me rongoā taku tamaiti hei whakaiti i ōna tohumate?
• Me pokanga taku tamaiti mō te fibrous dysplasia?
• He pānga taha kei ngā rongoā i hoatu ki taku tamaiti hei whakahaere i ngā tohumate?

He mea taumaha pea ki ngā mātua hou te kitenga he mate ira onge tō tāu tamaiti. Engari kia maumahara, mā te tātaritanga wawe me te maimoatanga ka āwhina i tāu tamaiti ki te aro atu ki ngā tohu. Tērā pea ka tūtohu atu tō tākuta kia toro atu koe ki tētahi kaitohutohu ira, he tohunga ira. Ka taea e rātou te āwhina i a koe ki te mārama ake ki te tātaritanga me te whakarato i te tautoko kare ā-roto e hiahiatia ana e koe. Ka taea hoki e rātou te ārahi i a koe ki ngā mahi ka taea e koe te mahi hei āwhina i tāu tamaiti kia ora hauora, kia whai hua.

Ngā mea nui hei maumahara (Karere hei kawe ki te kāinga)

He mate ira onge te mate McCune-Albright, engari he mate kino pea.

• Ka pā tēnei ki ngā wheua, te kiri, me te pūnaha homoni .
• Ko ngā tohu matua ko te "fibrous dysplasia" (he kiko whara i roto i ngā wheua), ngā "ira parauri i runga i te kiri" (he ira parauri), me te pakeketanga wawe.
• Ehara tēnei i te mea i tukuna iho i ngā mātua; he whakarerekētanga ira hou tēnei.
• Ahakoa kāore he rongoā katoa, he pai ngā maimoatanga hei whakahaere i ngā tohumate.
• He mea tino nui te tautuhi me te maimoatanga wawe, me te aroturukitanga hauora auau.
• Kāore koe i te mokemoke; rapua te tautoko mai i ngā tākuta me ngā kaitohutohu ira.

Ko tāku tumanako kua āwhina ēnei kōrero i a koe kia mārama ake ai ki tēnei mate. Kia maumahara, ki te mea he ruarua āu, kaua e mangere ki te kōrero ki te tākuta.

` Te Mate McCune-Albright, ngā mate ira, ngā mate wheua, te dysplasia fibrous, ngā ira kiri, ngā ira café-au-lait, ngā raruraru homoni, te pakeketanga wawe, te dysplasia fibrous, ngā ira café-au-lait, te pūnaha endocrine