He aha te Hyperplasia Adrenal Whānau? Tohutohu, Take, me te Maimoatanga

Ko te hyperplasia adrenal whānau (CAH) tētahi rōpū o ngā āhuatanga kua oti te whakawhiwhi e pā ana ki ō kōpū adrenal. Kei runga i ō whatukuhu ēnei kōpū iti, ā, e hanga ana i ngā homoni nui e hiahiatia ana e tō tinana kia mahi tika.

Ina pangia koe e te CAH, kāore pea ō kōpū adrenal e taea te hanga i te homoni e kiia nei ko te cortisol. Ka puta mai tēnei nā te koretake rānei te iti o te enzyme e hiahiatia ana hei whakaputa i te cortisol. Whakaarohia ngā enzyme hei kaimahi iti i roto i tō tinana e āwhina ana i ngā mahi matū kia ngāwari te mahi.

He aha ngā tohu o te hyperplasia adrenal whānau?

Ka rerekē pea ngā tohu o te CAH, kei te whakawhirinaki ki te momo kei a koe me te kaha o te mate. Ka kite etahi i ngā tohu i muri i te whānau, ka kore etahi atu e kite i ngā tohu tae noa ki te pakeketanga.

Ko ēnei ngā tohu tino noa ka kitea e koe i ngā pēpi hou me ngā pēpi:

• Ngā ira tōrangapū kore-mārama i ngā kōtiro pēpi (ngā ira e kore e rite ki te tane, ki te wāhine rānei)
• Ngā ira nui ake i ngā tama pēpi
• Te maroke nui me te ruaki i ngā wiki tuatahi o te ora
• Ngā wā o te huka toto iti
• Te ngaro tote nui mā te mimi
• Te whāngai ngoikore me te kore e piki te taumaha
• Te ngenge rānei te moe rerekē

Ka puta ēnei tohu whakamutunga nā te pakanga o te tinana o tō pēpi ki te pupuri i te taurite tika o te tote, te huka, me ngā wai me te kore o te cortisol.

I te tipu haere o ngā tamariki me te CAH, ka kite pea koe i ngā tohu rerekē e whanake ana:

• Te pakeketanga tino wawe (i etahi wā i te 2-4 tau te pakeke)
• Ngā piki tipu tere e whai ake nei i te teitei whakamutunga poto atu i te mea i whakaarohia
• Te tupu o te huruhuru tinana nui
• Te mate huka nui
• Ngā wa rerekē, kāore rānei ngā wa o te marama i ngā kōtiro
• Te reo hohonu i ngā kōtiro
• Te whanaketanga uaua e rite ana ki te pakeke o rātou tau

He iti te mate o te CAH i etahi atu, kāore hoki e puta tae noa ki te pakeketanga. Ko ngā tohu pakeke ka uru atu ki ngā raruraru momona, ngā wa rerekē, te tupu o te huruhuru nui, me te mate huka nui e kore e whakautu ki ngā maimoatanga noa.

He aha ngā momo o te hyperplasia adrenal whānau?

E rua ngā momo matua o te CAH, ā, ko te mārama ki te rerekētanga ka āwhina i a koe ki te mohio ki te mea e tumanakohia ana. Ko te momo kei a koe e whakawhirinaki ana ki te nui o te mahi enzyme kei tō tinana.

Ko te CAH matua te momo kaha ake e puta ana i ngā pēpi hou. E 75% te tokomaha o te hunga he CAH matua kei a rātou te mea e kiia ana e ngā tākuta he "te ngaro tote," ā, ko te tikanga ka ngaro rawa te tote o o rātou tinana, ā, ka maroke rawa. Ko te 25% atu kei a rātou te CAH matua "whakapakari ngāwari," kei reira ngā rerekētanga homoni e pā ana ki te pakeketanga wawe me ētahi atu huringa whanaketanga, engari kāore e tino pā ana ki te ngaro tote e whakawehi ana i te ora.

He tino ngāwari te CAH kore-matua, ā, kāore e tino puta ngā tohu tae noa ki muri i te tamarikitanga, te taitamarikitanga, te pakeketanga rānei. Ko te nuinga o te hunga he momo nei kei a rātou te mahi enzyme hei aukati i ngā raruraru nui i te wā pēpi, engari ka kite pea rātou i ngā rerekētanga homoni i te tipu haere.

He aha te take o te hyperplasia adrenal whānau?

Ko te CAH te take o ngā huringa (mutations) i roto i ō ira e pā ana ki te mahi o ō kōpū adrenal. Ka whiwhi koe i ēnei huringa ira mai i ō mātua, koia te take i kiia ai he "whānau" - ko te tikanga kei te noho mai i te whānau.

Ko te take tino noa e pā ana ki te ira e hanga ana i te enzyme e kiia nei ko te 21-hydroxylase. E 90-95% te tokomaha o te hunga he CAH kei a rātou ngā mutations i roto i tēnei ira motuhake. Me te kore o tēnei enzyme, kāore ō kōpū adrenal e taea te hanga i te cortisol tika, engari ka ngana tonu rātou mā te hanga i te nui atu o ētahi atu homoni e kiia nei ko ngā androgens.

Kaore i te noa, ka taea te take o te CAH e ngā mutations i roto i ngā ira e hanga ana i ētahi atu enzyme pēnei i te 11-beta-hydroxylase, 17-hydroxylase, 3-beta-hydroxysteroid dehydrogenase rānei. Ka puta mai ētahi tohu rerekē mai i ia mea, engari ka whakaroa katoa rātou i te whakaputanga homoni noa i roto i ō kōpū adrenal.

Ka whai te CAH i te mea e kiia ana e ngā kairangahau ira he tauira "autosomal recessive." Ko te tikanga me whiwhi koe i te ira kua whakarerekētia mai i ō mātua e rua kia pangia koe e te mate. Ki te whiwhi koe i te ira kua whakarerekētia kotahi anake, he "kaikawe" koe, engari kāore pea e kitea ngā tohu i a koe.

Nōhea te haere ki te tākuta mō te hyperplasia adrenal whānau?

Me rapu wawe koe i te tiaki hauora mena ka kite koe i ētahi tohu whakatūpato, ina koa i ngā pēpi hou me ngā tamariki. Ka taea e ēnei tohu te tohu i te mate homoni nui e hiahia ana ki te maimoatanga āwangawanga.

Waea atu ki tō tākuta inaianei mena ka kite koe i te ruaki, te maroke nui, te ngenge nui, te tohu rānei o te huka toto iti i te pēpi hou. Ka taea e ēnei te tohu i te mate ngaro tote, e whakawehi ana i te ora ki te kore e āwhina wawe.

Me whakapiri atu hoki koe ki tō kaiwhakarato hauora mena ka kite koe i ngā tohu o te pakeketanga wawe i ngā tamariki, pēnei i te tupu o te huruhuru tinana, ngā piki teitei tere, te huringa ira rānei i mua i te 8 tau te pakeke mō ngā kōtiro, te 9 tau rānei mō ngā tama. Ahakoa kāore i te tūkino tonu, ka taea e te maimoatanga wawe te āwhina i te aukati i ngā raruraru.

Mō ngā pakeke, whakaarohia te haere ki te tākuta mena ka pāngia koe e ngā raruraru momona kaore i te mārama, ngā wa rerekē, te tupu o te huruhuru nui i ngā wāhi kaore i te noa, te mate huka nui rānei e kore e pai ake ki ngā maimoatanga noa. Ka taea e ēnei te tohu i te CAH kore-matua i kore i te kitea i mua i te ora.

He aha ngā take morearea mō te hyperplasia adrenal whānau?

Ko te take morearea matua mō te CAH ko te whai mātua e mau ana i te mutation ira. Nā te mea he āhuatanga kua oti te whakawhiwhi te CAH, ko tō hītori whānau te mea nui rawa e whakatau ana i tō morearea.

He nui ake te auau o te CAH i ētahi rōpū iwi. Ko te hunga o te iwi Hūrai Ashkenazi, te iwi Hīpānika, te iwi Slavic, te iwi Itari rānei he tino pea te kaikawe o ngā mutations ira e pā ana ki te CAH. Heoi, ka taea te puta mai te mate i ngā tangata o tetahi iwi.

Mena kei a koe tetahi tamaiti kua pangia e te CAH, he 25% te tupono ka pangia hoki e te mate ia tamaiti atu. Ko te take tenei he kaikawe ngā mātua e rua, ā, he kotahi-i-whā te tupono o ia tamaiti ki te whiwhi i te ira kua whakarerekētia mai i ngā mātua e rua.

Ka nui ake te morearea o te whanaungatanga toto (te whai tamariki me te whanaunga toto) nā te mea he tino pea ngā tangata e hono ana ki te kawe i ngā mutations ira kotahi. Heoi, ko te nuinga o ngā tamariki he CAH kei a rātou ngā mātua kaore i te hono e mau ana i te kaikawe.

He aha ngā raruraru pea o te hyperplasia adrenal whānau?

Ahakoa ka taea te whakahaere pai i te CAH me te maimoatanga tika, he mea nui te mārama ki ngā raruraru pea kia taea ai e koe te mahi tahi me tō rōpū hauora hei aukati i a rātou. Ka taea te karo, te whakaiti rānei i te nuinga o ngā raruraru me te whakatau wāwewe me te maimoatanga mau tonu.

Ko ēnei ngā raruraru poto-wā tino nui:

• Te mate adrenal (te maroke nui, te pakaru, me ngā rerekētanga waikura)
• Ngā taumata huka toto iti rawa
• Te maroke nui ka arahi ki ngā raruraru whatukuhu
• Te kore e tipu i ngā pēpi kaore i te āwhina

Ko ēnei raruraru koi te tino noa i te hunga he CAH matua, ina koa te momo ngaro tote, ā, ka puta i te nuinga o te wā ki te kore e kitea te mate, te wā rānei o te ahotea, te mate rānei.

Ka pā ngā raruraru roa ki te tipu me te whanaketanga:

• Te teitei pakeke whakamutunga poto atu i te mea i whakaarohia nā te pakeketanga wawe me te hono wawe o ngā papa tipu
• Ngā raruraru momona i ngā tāne me ngā wāhine
• Ngā wa o te marama rerekē, kāore rānei ngā wa o te marama
• Ngā wero hinengaro e pā ana ki ngā ira tōrangapū kore-mārama, te tuakiri ira rānei
• Te nui ake o te morearea o te osteoporosis mai i te maimoatanga steroid roa
• Te nui ake o te morearea o te momona me ngā raruraru metabolic

Me te tiaki hauora tika me te rongoā whakakapinga homoni, ka taea e te nuinga o te hunga he CAH te ora hauora, te ora noa hoki, ā, te karo i ēnei raruraru. Ko te tirotiro me te whakatikatika maimoatanga mau tonu e āwhina ana ki te whakaiti i ngā morearea me te pupuri i te kounga ora pai.

Me pēhea te aukati i te hyperplasia adrenal whānau?

Nā te mea he āhuatanga ira te CAH, kāore e taea e koe te aukati i te puta mai mena ka whiwhi koe i ngā ira mai i ō mātua e rua. Heoi, ka taea e te tohutohu ira me te whakamātautau te āwhina i a koe ki te mārama ki ō morearea me te whakatau i ngā whakatau whakarite whānau whakamārama.

Mena kei a koe te hītori whānau o te CAH, te noho rānei i roto i te rōpū iwi morearea nui, ka taea e te tohutohu ira te āwhina i a koe ki te mārama mena he kaikawe koe. Ko te whakamātautau kaikawe e pā ana ki te whakamātautau toto ngāwari e taea ai te kite mena kei a koe tetahi kōpeke o te ira kua whakarerekētia.

Mena he kaikawe ngā hoa e rua, he maha ngā kōwhiringa hei whakaaro. Ka taea e te whakamātautau i mua i te whānau i te wā hapu te whakatau i te CAH i te pēpi e whanake ana. Ka whiriwhiri etahi tokorua i te whakato i roto i te karaihe me te whakamātautau ira o ngā pēpi (e kiia nei ko te whakatau ira i mua i te whakatō) hei tīpako i ngā pēpi kaore he mate.

Mō ngā whānau he hītori o te CAH, he mea nui te tirotiro pēpi hou wawe. Ko te nuinga o ngā whenua kei roto inaianei te CAH i ō rātou kaupapa tirotiro pēpi hou noa, e taea ai te hopu i te mate i mua i te puta mai o ngā tohu, ā, te āwhina i te maimoatanga wawe.

Me pēhea te whakatau i te hyperplasia adrenal whānau?

Ko te whakatau i te CAH e pā ana ki ngā whakamātautau toto e ine ana i ngā taumata homoni, ā, ko te wā o ēnei whakamātautau e whakawhirinaki ana ki te wā e puta mai ai ngā tohu. Ko te nuinga o ngā take kei te hopukina inaianei mā ngā kaupapa tirotiro pēpi hou noa i mua i te puta mai o ngā tohu.

Ko te tirotiro pēpi hou e pā ana ki te tango i te tauira toto iti mai i te rekereke o tō pēpi i roto i ngā rā tuatahi o te ora. Ka ine te whakamātautau i ngā taumata o te homoni e kiia nei ko te 17-hydroxyprogesterone, e teitei ana i ngā pēpi he CAH.

Mena he rerekē te whakamātautau tirotiro, ka tono atu tō tākuta i ngā whakamātautau toto taipitopito atu hei whakau i te whakatau. Ka ine ēnei whakamātautau whakau i ngā homoni maha tae atu ki te cortisol, te aldosterone, me ngā androgens maha hei whakatau i te momo CAH kei tō tamaiti.

Mō ngā tamariki pakeke me ngā pakeke, ka tīmata te whakatau i te wā e puta mai ai ngā tohu. Ka tono pea tō tākuta i ngā whakamātautau homoni rite, i te nuinga o te wā i te ata wawe i te wā e teitei ana ngā taumata cortisol. I etahi wā, he whakamātautau whakaohooho e hiahiatia ana, kei reira koe e whiwhi ana i te werohanga o te ACTH hangai (he homoni e whakaohooho ana i ngā kōpū adrenal) ā, ka whakamātautauhia tō toto kia kitea me pēhea te whakautu o ō kōpū adrenal.

I etahi wā, ka taea e te whakamātautau ira te kite i ngā mutations motuhake e pā ana ki te CAH. Ka taea te whakamahi i tēnei mōhiohio mō te whakarite whānau me te whakatau i te momo koretake enzyme kei a koe.

He aha te maimoatanga mō te hyperplasia adrenal whānau?

Ko te maimoatanga mō te CAH e aro ana ki te whakakapi i ngā homoni kaore e taea e tō tinana te hanga tika me te whakahaere i ngā tohu i roto i tō ora. Me te maimoatanga mau tonu, ka taea e te nuinga o te hunga he CAH te ora noa, te ora hauora hoki.

Ko te maimoatanga matua e pā ana ki te tango i ngā rongoā corticosteroid hei whakakapi i te cortisol kaore e taea e tō tinana te hanga. Ko te nuinga o te hunga e tango ana i te hydrocortisone, e rite ana ki te cortisol e whakaputa ana tō tinana. Ka tango pea koe i tēnei rongoā rua ki te toru wā i te rā, me ngā rā nui ake i ngā wā o te mate, te ahotea rānei.

Mena kei a koe te momo ngaro tote o te CAH, ka hiahia hoki koe ki te rongoā e kiia nei ko te fludrocortisone hei āwhina i ō whatukuhu ki te pupuri i te tote me te pupuri i te taurite wai tika. He tokomaha hoki e hiahia ana ki te tote atu i roto i ō rātou kai, ina koa i te wā wera, te whakakori rānei.

Mō te hunga he ira tōrangapū kore-mārama, ka taea te tūtohutia te whakatikatika pokanga. He uaua ēnei whakatau, me uru atu ki tētahi rōpū o ngā tohunga tae atu ki ngā tohunga endocrinology tamariki, ngā tohunga urology, me ngā tohunga hinengaro. Ko te wā me te momo pokanga e rerekē ana i runga i ngā ahuatanga takitahi me ngā manakohanga whānau.

Ko te maimoatanga i te nuinga o te wā e hiahia ana ki ngā whakatikatika i te tipu haere me te huringa o ngā hiahia o tō tinana. Ka hiahia pea ngā tamariki ki ngā piki rā nui ake i te nui haere, ā, ka hiahia pea ngā wāhine ki ngā whakatikatika i te wā hapu. Ko te tirotiro mau tonu me ngā whakamātautau toto e āwhina ana i tō tākuta ki te whakatika i tō maimoatanga.

Me pēhea te whakahaere i te hyperplasia adrenal whānau i te kāinga?

Ko te whakahaere i te CAH i te kāinga e pā ana ki te whakawhanake i ngā mahi pai e pā ana ki te rongoā, te whakahaere ahotea, me te mohio ki te wā hei rapu i te tiaki hauora atu. Me te huarahi tika, ka taea e koe te pupuri i te hauora pai me te aukati i ngā raruraru.

Ko te tango mau tonu i ō rongoā te mea nui rawa o te whakahaere kāinga. Whakaritea he mahi rā e ngāwari ai te mahara ki ō rā, pēnei i te tango me ngā kai, te whakamahi rānei i te kaiwhakarite papa. Kaua rawa e ngaro ngā rā, te mutu rānei i te tango i ō rongoā me te kore e kōrero ki tō tākuta.

I te wā o te mate, te whara, te ahotea nui rānei, e hiahia ana tō tinana ki te cortisol atu. Ka whakaako atu tō tākuta ki a koe me pēhea te whakanui i ō rā rongoā i ēnei wā. Pupurihia he mahere mahi tuhi e kōrero ana ki a koe me te nui o te rongoā atu hei tango me te wā hei whakapiri atu ki tō rōpū hauora.

Mau tonu te tohu hauora e whakamārama ana kei a koe te CAH me te whakarārangi i ō rongoā. I te āwangawanga, ka taea e tēnei mōhiohio te whakaora i te ora. Whakaarohia te kakahu i te poroporo āwhina hauora, te pupuri rānei i te kāri āwangawanga i roto i tō putea.

Tātai atu ki ngā tohu o tō tinana, me ako ki te mohio ki ngā tohu e tohu ana pea me rapu koe i te tiaki hauora. Ka uru atu ēnei ki te ruaki mau tonu, te ngenge nui, te māuiui, tetahi tohu rānei e kore e rite ki a koe.

Me pēhea te whakarite mō tō hui tākuta?

Ko te whakarite mō ō hui CAH ka taea te āwhina i a koe ki te whiwhi i te hua nui rawa atu i tō haerenga, ā, te whakarite kia whai te tākuta i ngā mōhiohio katoa e hiahiatia ana hei whakarato i te tiaki pai. Ko te whakarite pai e pai ake ai ēnei haerenga me te hua.

Pupurihia he tātai tohu i waenga i ngā hui, te tuhi i ngā tohu rerekē, ngā pānga o te rongoā, te wā rānei i hiahia ai koe ki te whakanui i ō rā nā te mate, te ahotea rānei. Ka āwhina tēnei mōhiohio i tō tākuta ki te mārama me te pai o te mahi o tō maimoatanga o nāianei.

Kawe mai i te rārangi katoa o ngā rongoā katoa e tangohia ana e koe, tae atu ki ngā rā tika me te wā. Tāpirihia hoki ngā rongoā kaore i te rongoā, ngā taapiri, ngā rongoā otaota rānei, nā te mea ka taea e ēnei te mahi tahi i ō rongoā CAH.

Tuhia ngā pātai, ngā awangawanga rānei kei a koe i mua i tō hui. Ko ngā kaupapa noa ka uru atu ki ngā whakatikatika rā, te whakahaere i ngā pānga, te whakarite mō te haere, ngā hui motuhake rānei, ngā awangawanga rānei e pā ana ki te tipu me te whanaketanga i ngā tamariki.

Mō ngā tamariki he CAH, kawe mai i ngā tūtohi tipu me ngā mōhiohio mahi kura mena kei a koe ngā awangawanga e pā ana ki te whanaketanga. Ka hiahia tō tākuta ki te tirotiro i te tipu tinana me ngā tohu whanaketanga tata.

He aha te mea nui e pā ana ki te hyperplasia adrenal whānau?

Ko te mea nui rawa hei mārama ki te CAH ko te mea ahakoa he āhuatanga ora tonu, he tino whakahaerehia me te maimoatanga tika me te tiaki hauora. Ka taea e te nuinga o te hunga he CAH te ora noa, te ora ora tonu hoki ina tangohia e rātou ō rātou rongoā mau tonu, ā, mahi tahi me ō rātou rōpū hauora.

Ko te whakatau wāwewe me te maimoatanga e tino rerekē ana i ngā hua. Nā ngā kaupapa tirotiro pēpi hou, ko te nuinga o ngā take kei te hopukina inaianei i mua i te whanaketanga o ngā raruraru nui. Ka taea e tēnei kitenga wawe te maimoatanga wawe me te aukati i ngā raruraru nui ka puta mai mena kaore i te kitea te CAH.

Ko te ki mō te whakahaere angitu ko te mārama ki tō mate, te tango i ngā rongoā penei i te whakahaunga, me te mohio ki te wā hei rapu i te tiaki hauora atu. Me ēnei kaupapa matua, ka taea e koe te tumanako ki te ora hauora, te ora whai hua hoki ahakoa he CAH kei a koe.

Kia mahara ka pā rerekē te CAH ki te katoa, me whakaritea tō mahere maimoatanga ki ō hiahia motuhake. Ko te whakawhitiwhiti korero mau tonu me tō rōpū hauora e whakarite ana kia mau tonu te whai hua o tō maimoatanga i te wā e huri haere ana ngā hiahia o tō tinana i te wā.

Ngā pātai noa e pā ana ki te hyperplasia adrenal whānau

Ka taea e te hunga he CAH te whai tamariki?

Ae, ka taea e te tokomaha o te hunga he CAH te whai tamariki, ahakoa ka pā pea te momona i etahi wā. Ka taea e ngā wāhine he CAH ngā wa rerekē, te hiahia rānei ki te maimoatanga hei whakapai ake i te momona. Ko te nuinga o ngā tāne he CAH he momona noa. Ko te mahi tahi me te tohunga endocrinology whakahihiri ka taea te āwhina mena kei a koe ngā raruraru ki te whānau.

Ka pāngia te taumaha e ngā rongoā CAH?

Ka kite etahi i te piki o te taumaha me te maimoatanga corticosteroid, engari kāore tenei i te tino. Ko te ki ko te kimi i te rā tika e whakakapi ana i te mea e hiahiatia ana e tō tinana me te kore e tino nui. Ko te whakakori mau tonu, te kai hauora, te mahi tahi rānei me tō tākuta hei whakatika i ō rā ka taea te āwhina i te whakahaere i ngā awangawanga taumaha.

Ka taea te mutu i ngā rongoā CAH mena ka pai ake ngā tohu?

Kāo, kaua rawa e mutu ngā rongoā CAH ahakoa kei te pai koe. Kei te whakakapi ēnei rongoā i ngā homoni kaore e taea e tō tinana te hanga ake, no reira ka arahi te mutu ki ngā raruraru nui tae atu ki te mate adrenal. Kōrero atu ki tō tākuta i mua i te mahi i ngā huringa ki tō mahere rongoā.

Me pēhea te pā o te ahotea ki te CAH?

Ka nui ake te hiahia o tō tinana ki te cortisol i te ahotea tinana me te hinengaro. Nā te mea kaore e taea e te hunga he CAH te hanga i te cortisol atu, ka hiahia pea koe ki te whakanui i ō rā rongoā i te wā poto i ngā wā ahotea pēnei i te mate, te pokanga, ngā hui nui o te ora rānei. Ka whakaako atu tō tākuta ki a koe me pēhea te whakatika i ō rā tika.

He nui ake te auau o te CAH i ētahi whānau, i ētahi rōpū iwi rānei?

Ae, he nui ake te auau o te CAH i ētahi taupori tae atu ki te hunga o te iwi Hūrai Ashkenazi, te iwi Hīpānika, te iwi Slavic, me te iwi Itari. Heoi, ka taea te puta mai i tetahi iwi. Mena kei a koe te hītori whānau o te CAH, te noho rānei i roto i te rōpū morearea nui, ka taea e te tohutohu ira te āwhina i a koe ki te mārama ki ō morearea me ō kōwhiringa.