He aha te Tuberous Sclerosis? Ngā Tohutohu, Ngā Take, me te Maimoatanga

Ko te tuberous sclerosis he āhuatanga ira tuku iho e pā ana ki te tipu o ngā pūngāwerewere kore mate pūngāwerewere i roto i ngā wāhanga rerekē o tō tinana. Ka taea e ēnei tipu, e kiia nei ko ngā hamartomas, te tipu i roto i tō roro, i tō kiri, i ō whatukuhu, i tō ngakau, i ō ngā manawa, me ētahi atu okana i te wa e ora ana koe.

Ahakoa ka rongo pea koe i te nui o te āhuatanga i te tīmatanga, he mea nui kia mōhio koe ka rerekē te pānga o te tuberous sclerosis ki te tangata. He iti ngā tohutohu o ētahi, kāore rātou e pā nui ki o rātou oranga o ia rā, engari me āwhina pea ētahi atu i te tiaki me te tautoko nui atu.

He aha te tuberous sclerosis?

Ko te tuberous sclerosis complex (TSC) he mate ira tuku iho onge e puta ana i te kore mahi tika o ētahi ira. Ka puta tēnei i te tipu me te wehewehe o ngā pūtau i ngā huarahi kore noa, e hanga ana i ngā pūngāwerewere ngāwari i roto i ngā okana maha.

I whiwhi te āhuatanga i tōna ingoa mai i ngā pūngāwerewere rite ki te rīwai (tubers) e taea te hanga i roto i te roro me ngā wahi pakari (sclerosis) e puta mai ana i runga i te kiri. E 1 i roto i te 6,000 te hunga o te ao katoa e pangia ana e te tuberous sclerosis, e nui atu ana i tō whakaaro pea mō tētahi āhuatanga onge.

Kei te noho te TSC mai i te whānau, ahakoa kaore pea ngā tohutohu e puta mai kia tae ra ano ki muri i te tamarikitanga, ā, tae noa ki te pakeketanga. Ka rerekē te kaha o te āhuatanga i waenga i ngā mema o te whānau, ahakoa kei a rātou te huringa ira kotahi.

He aha ngā tohutohu o te tuberous sclerosis?

Ko ngā tohutohu o te tuberous sclerosis e whakawhirinaki ana ki te wahi e tipu ana ngā pūngāwerewere me te nui o te tipu. Mai i te āhuatanga o tēnei āhuatanga ki te pā ki ngā okana maha, ka rerekē pea ngā tohu mai i te tangata ki te tangata.

Ko ēnei ngā tohutohu tino noa ka kite pea koe:

• Ngā huringa kiri pēnei i ngā wahi ma, ngā pūngāwerewere whero i runga i te mata, i ngā wahi mātotoru i runga i te tuara
• Ngā hopu e tīmata ana pea i te wā pepeke, i te tamarikitanga rānei
• Ngā whakaroa whanaketanga, i ngā uaua ako rānei
• Ngā wero whāinga, tae atu ki ngā whāinga o te āhua o te mate autism
• Ngā raruraru whatukuhu e āhei ana te piki o te toto
• Ngā rereketanga o te ngakau, ina koa i ngā pepeke
• Ngā raruraru manawa e āhei ana te poto o te manawa

Ka pāngia pea ētahi atu i ngā tohutohu kāore i te noa. Ka taea e ēnei te wātea i ngā raruraru tirohanga mai i ngā tipu i roto i ngā kanohi, i ngā raruraru niho pēnei i ngā niho poka, i ngā huringa wheua e pā ana ki te tipu.

He mea whakamarie te mōhio kei te kore te tuberous sclerosis e whakaatu i ēnei tohutohu katoa. He tokomaha ngā tāngata e ora ana i ngā oranga tino whānuitia, e whakahaere ana i etahi noa o ēnei tohu.

He aha ngā momo o te tuberous sclerosis?

Kāore he momo rerekē o te tuberous sclerosis, engari ka whakatauritetia e ngā tākuta i runga i ngā ira e pā ana. E rua ngā ira matua e pā ana: TSC1 me TSC2.

Ko te hunga e pangia ana e ngā huringa ira TSC2 e nui atu ana ngā tohutohu i te hunga e pangia ana e ngā huringa TSC1. Heoi, ehara tēnei i te ture uaua, ā, ka rerekē pea tō wheako ake i te mea ka whakaatu noa te ira.

Kei ētahi te mea e kiia nei ko te tuberous sclerosis "mosaic", kei reira noa ngā pūtau o tō ratou tinana e mau ana i te huringa ira. Ka āhei pea tēnei ki ngā tohutohu ngāwari ake e pā ana pea ki tētahi wāhanga o te tinana.

He aha ngā take o te tuberous sclerosis?

Ka puta te tuberous sclerosis nā ngā huringa (mutations) i roto i ngā ira e awhina ana i te whakahaere i te tipu o ngā pūtau. Ko ēnei ira, ko TSC1 me TSC2, e mahi ana pēnei i ngā pereki pūtau e ārai ana i te tipu tere o ngā pūtau.

Ina kore ēnei ira e mahi tika ana, ka taea e ngā pūtau te tipu me te wehewehe kaore he whakahaere noa. Ka āhei tēnei ki te hanga i ngā pūngāwerewere ngāwari i roto i ngā okana maha i roto i tō tinana.

E rua-toru o ngā tāngata e pangia ana e te tuberous sclerosis e whiwhi ana i te āhuatanga mai i tētahi mātua e pangia ana hoki. Ko te toru o te toenga e whanake ana i te mea mai i ngā huringa ira hou e puta ana i te wā whanaketanga.

Mēnā kei a koe te tuberous sclerosis, kei ia o au tamariki te 50% te tūponotanga o te whiwhi i te āhuatanga. Heoi, ahakoa ka whiwhi rātou, ka rerekē pea ō rātou tohutohu mai i āu.

Nōhea te haere ki te tākuta mō te tuberous sclerosis?

Me rapu koe i te tiaki hauora mēnā ka kite koe i tetahi whakakotahitanga o ngā tohutohu i whakahuahia i mua, ina koa i ngā tamariki. Ko ngā tohutohu tīmatanga e tika ana kia haere ki te tākuta ko ngā hopu kaore i te whakamārama, ngā whakaroa whanaketanga, i ngā huringa kiri motuhake.

Mēnā kei tō tamaiti ngā wahi ma i runga i tōna kiri kāore e wera i te rā, ngā pūngāwerewere kanohi e rite ana ki te mate pūngāwerewere engari kāore e whakautu ki te maimoatanga, i ngā hopu o tetahi momo rānei, he mea tika te kōrero ki tō tākuta tamariki.

Mō ngā pakeke, ko ngā tohutohu hou pēnei i ngā raruraru whatukuhu, ngā raruraru manawa, i ngā huringa i roto i ngā tipu kiri o mua e tika ana kia whakamātauhia te hauora. Ahakoa kua ora koe me ngā tohutohu tuberous sclerosis ngāwari, ka awhina ngā tirotiro auau ki te aroturuki i ngā huringa.

Kaua e tatari mēnā kei te pāngia koe e ngā tohutohu nui pēnei i te uaua o te manawa, ngā hopu tonu, i ngā huringa awangawanga i roto i te whāinga, i te whanaketanga rānei. Me āwhina tonu ēnei āhuatanga.

He aha ngā take tūponotanga mō te tuberous sclerosis?

Ko te take tūponotanga matua mō te tuberous sclerosis ko te whai mātua e pangia ana e te āhuatanga. Mēnā kei tētahi mātua te TSC, kei te 50% te tūponotanga o te tuku ki ia tamaiti.

Heoi, he mea nui te mōhio kei te nuinga o ngā tāngata e pangia ana e te tuberous sclerosis kāore ō rātou mātua e pangia ana. E 60-70% o ngā take e puta ana i ngā huringa ira hou e puta ana i te wā whanaketanga.

Ka piki pea te pakeketanga o ngā mātua i te tūponotanga o ngā huringa ira hou, engari kāore tēnei hononga e kaha ki te whakaarohia he take tūponotanga nui. Kāore ngā take taiao, ngā whiringa oranga, i ētahi atu āhuatanga hauora e pā ana ki tō tūponotanga ki te whanaketanga o te tuberous sclerosis.

He aha ngā raruraru pea o te tuberous sclerosis?

Ahakoa ka rerekē te pānga o te tuberous sclerosis ki te tangata, ka taea e te mōhio ki ngā raruraru pea te awhina i a koe me tō rōpū hauora kia mataara, kia hoatu ai te tiaki pai rawa atu.

Ko ngā raruraru tino noa ko ēnei:

• Te mate hopu e uaua ana pea te whakahaere me ngā rongoā noa
• Ngā raruraru whatukuhu, tae atu ki ngā tipu e āhei ana te pā ki te mahi whatukuhu
• Ngā ngoikoretanga whanaketanga me ngā ngoikoretanga hinengaro o ngā taumata rerekē
• Ngā whāinga o te āhua o te mate autism me ngā wero korerorero
• Ngā raruraru ngakau, ina koa i ngā pepeke me ngā tamariki iti
• Te mate manawa e āhei ana te uaua o te manawa, ina koa i ngā wāhine
• Ngā raruraru kanohi e āhei ana te pā ki te tirohanga

Ka taea pea e ētahi te whanaketanga o ngā raruraru onge. Ka taea e ēnei te wātea i te mate whatukuhu nui e hiahia ana ki te dialysis, ngā raruraru manawa kino, i ngā pūngāwerewere ngakau e whakaroa ana i te mahi ngakau noa.

Ko te rongo pai ko te whakahaere tika me te maimoatanga, ka taea te whakahaere pai i ēnei raruraru maha. Ka awhina ngā whai wā auau me tō rōpū hauora ki te hopu i ngā raruraru i te tīmatanga ina tino taea te whakaora.

Me pēhea te ārai i te tuberous sclerosis?

Mai i te tuberous sclerosis he āhuatanga ira tuku iho, kāore he huarahi hei ārai i te puta. Heoi, mēnā kei a koe te TSC, i te hītori whānau o te āhuatanga rānei, ka taea e te tohutohu ira te awhina i a koe ki te mōhio ki ngā tūponotanga mō ngā tamariki o muri.

Kei te wātea te whakamātautau i mua i te whānau mō ngā whānau e hiahia ana ki te mōhio mēnā kua whiwhi ta rātou tamaiti kaore i whānau i te tuberous sclerosis. Ka taea e tēnei mōhiohio te awhina i a koe ki te whakarite mō te tiaki o tō tamaiti me te hono atu ki ngā rōpū hauora tika i te tīmatanga.

Ahakoa kaore e taea e koe te ārai i te tuberous sclerosis ake, ka taea e koe te mahi hei ārai, hei whakaiti rānei i ngā raruraru. Kei roto i tēnei te whai i tō mahere maimoatanga, te haere ki ngā whakaritenga hauora auau, me te pupuri i te oranga hauora.

Me pēhea te whakatau i te tuberous sclerosis?

Ko te whakatau i te tuberous sclerosis e pā ana ki te rapu i ngā tohutohu me ngā tohu motuhake e kiia ana e ngā tākuta he "kriteeria whakatau". Ka tirotirohia e tō tākuta tō kiri, ka tono i ngā whakamātautau whakaahua, ā, ka āhei pea te tono whakamātautau ira.

Ko te tukanga whakatau e wātea ana i te tirotiro tinana tino pai hei rapu i ngā huringa kiri motuhake. Ka whakamahi tō tākuta i te rama motuhake e kiia nei ko te rama a Wood hei whakamārama i ngā wahi ma kaore pea e kitea i raro i te mārama noa.

Ko ngā whakamātautau whakaahua he mea nui ki te whakatau. Ka taea e ngā whakaahua MRI o te roro te whakaatu i ngā pūngāwerewere roro motuhake, ā, ka awhina ngā whakaahua CT o te uma me te kopu ki te tautuhi i ngā pūngāwerewere i roto i ngā manawa me ngā whatukuhu.

Ka taea e te whakamātautau ira te whakau i te whakatau mā te tautuhi i ngā huringa i roto i ngā ira TSC1, i TSC2 rānei. Heoi, e 10-15% o ngā tāngata e pangia ana e te tuberous sclerosis he hua whakamātautau ira noa, no reira kāore te whakamātautau kino e whakakahore i te āhuatanga.

Ka āhei pea tō tākuta te tono i ētahi atu whakamātautau pēnei i te electroencephalogram (EEG) hei tirotiro i te mahi hopu, he echocardiogram hei tirotiro i tō ngakau, me ngā tirotiro kanohi hei rapu i ngā huringa retinal.

He aha te maimoatanga mō te tuberous sclerosis?

Ko te maimoatanga mō te tuberous sclerosis e aro ana ki te whakahaere i ngā tohutohu me te ārai i ngā raruraru, kāore i te whakaora i te āhuatanga. Ko tō rōpū tiaki ka wātea pea i ngā tohunga maha e mahi tahi ana hei whakautu ki ō hiahia motuhake.

Ko te whakahaere hopu he mea nui te nuinga. Ka taea e ngā rongoā anti-hopu te awhina i te whakahaere i te mate hopu, ahakoa me hiahia pea ētahi e pangia ana e te TSC ki ngā rongoā maha, i ētahi atu maimoatanga pēnei i te maimoatanga kai, i te pokanga rānei.

Kua whakaatuhia e te rongoā e kiia nei ko te sirolimus (e mohiotia ana hoki ko te rapamycin) he tumanako ki te whakaiti i ētahi pūngāwerewere e hono ana ki te tuberous sclerosis. He mea awhina ina koa mō ngā pūngāwerewere whatukuhu me ngā tipu kanohi.

Ko ētahi atu maimoatanga e whakawhirinaki ana ki ngā okana e pā ana:

• Te maimoatanga whāinga me te tautoko mātauranga mō ngā wero whanaketanga
• Ngā rongoā, i ngā tukanga rānei mō ngā raruraru whatukuhu
• Te aroturuki ngakau me te maimoatanga mō ngā pūngāwerewere ngakau
• Te tautoko mahi manawa mō ngā raruraru manawa
• Ngā maimoatanga kiri mō ngā āwangawanga ataahua

He mea nui te aroturuki auau ahakoa kei te pai koe. Ka awhina tēnei i tō rōpū hauora ki te hopu i ngā huringa i te tīmatanga me te whakarite i ngā maimoatanga kia rite ki te hiahia.

Me pēhea te whakahaere i te tuberous sclerosis i te kāinga?

Ko te whakahaere i te tuberous sclerosis i te kāinga e pā ana ki te hanga i tētahi taiao tautoko me te pupuri i ngā mahi tiaki mau tonu. Ka taea e te pupuri i te rārangi tohutohu taipitopito te awhina i a koe me tō rōpū hauora ki te aroturuki i ngā huringa i te wa.

Mēnā kei a koe, i tō tamaiti rānei ngā hopu, kia mohio ngā mema o te whānau ki te awhina tuatahi hopu. Pupurihia ngā rongoā whakaora i te wātea, kia mohio ngā kura, i ngā wāhi mahi rānei ki tō āhuatanga me ngā mahere āwhina.

Tīakina tō kiri mai i te kino o te rā, i te mea kāore ngā wahi ma e hono ana ki te TSC e whakaputa i te tae tiaki. Whakamahia te sunscreen auau, ā, whakaarohia ngā kakahu tiaki mō ngā mahi i waho roa.

Pupurihia he oranga hauora me te whakakori auau, te kai rite, me te moe tika. Ka tautoko ēnei tikanga i te hauora whānui, ā, ka āhei pea te whakaiti i te auau o ētahi tohutohu pēnei i ngā hopu.

Hono atu ki ngā rōpū tautoko me ngā hapori ipurangi mō ngā tāngata e pangia ana e te tuberous sclerosis. Ka taea e te whakawhiti wheako ki ētahi atu e mōhio ana ki ō wero te hoatu i te tautoko ngākau nui me ngā tohutohu mahi.

Me pēhea te whakarite mō tō whakaritenga tākuta?

Ko te whakarite mō tō whakaritenga e awhina ana kia whiwhi koe i te mea pai rawa atu i tō wā me tō kaiwhakarato hauora. Tīmata mā te tuhituhi i ō tohutohu katoa, tae atu ki te wā i tīmata ai rātou me te āhua o te huringa i te wa.

Kawe mai i te rārangi katoa o ngā rongoā, ngā taapiri, me ngā huaora katoa e inu ana koe. Kei roto ngā rāpoi me te auau o te inu i ia mea, i te mea ka awhina tēnei mōhiohio i tō tākuta ki te karo i ngā mahi kino pea.

Whakaritea he rārangi o ngā pātai e hiahia ana koe ki te ui. Whakaarohia te ui mō ngā whiringa maimoatanga hou, ngā whakarerekētanga oranga e āhei ana te awhina, i ngā rauemi mō te tautoko atu.

Mēnā e taea ana, kawe mai tētahi mema whānau, i tētahi hoa rānei ki tō whakaritenga. Ka taea e rātou te awhina i a koe ki te mahara ki ngā mōhiohio nui me te hoatu i te tautoko ngākau i ngā kōrero mō tō tiaki.

Kohikohia ngā rēkōta hauora, ngā hua whakamātautau, i ngā rangahau whakaahua rānei mai i ētahi atu kaiwhakarato hauora. Ka awhina tēnei whakaahua whānui i tō tākuta ki te mahi i ngā tūtohu pai rawa atu mō tō tiaki.

He aha te mea nui mō te tuberous sclerosis?

Ko te mea nui rawa atu hei mōhio mō te tuberous sclerosis ko te pānga rerekē ki te tangata. Ahakoa he āhuatanga ora tonu e hiahia ana ki te whakahaere tonu, he tokomaha ngā tāngata e pangia ana e te TSC e ora ana i ngā oranga tino nui.

Ka taea e te whakatau i te tīmatanga me te maimoatanga tika te whakapai ake i ngā hua me te kounga o te ora. Ko te mahi tahi me te rōpū hauora mohio me te hono atu ki te hapori TSC e hoatu ana i te turanga pai rawa atu mō te whakahaere i tēnei āhuatanga.

Kia mahara kei te haere tonu te rangahau ki te tuberous sclerosis, me ngā maimoatanga hou me ngā rautaki whakahaere e whānau ana auau. Ko te mea ka kitea pea he uaua i tēnei rā ka taea pea te whakahaere nui atu me ngā whakapainga o muri mai i te tiaki.

Ngā pātai uiui noa mō te tuberous sclerosis

He mate mate te tuberous sclerosis?

Kāore te tuberous sclerosis ake e mate mate, ā, he tokomaha ngā tāngata e pangia ana e te TSC e whai oranga roa noa.

Ka taea e ngā tāngata e pangia ana e te tuberous sclerosis te whānau tamariki?

Ae, ka taea e ngā tāngata e pangia ana e te tuberous sclerosis te whānau tamariki. Heoi, kei te 50% te tūponotanga o te tuku i te āhuatanga ki ia tamaiti. Ka taea e te tohutohu ira te awhina i a koe ki te mōhio ki ēnei tūponotanga me te tirotiro i ngā whiringa pēnei i te whakamātautau i mua i te whānau, i ngā hangarau whakaputa whānau awhina rānei mēnā ka hiahiatia.

Ka taea e taku tamaiti e pangia ana e te tuberous sclerosis te haere ki te kura noa?

He tokomaha ngā tamariki e pangia ana e te tuberous sclerosis e haere ana ki ngā kura noa me ngā ratonga tautoko tika. Ko te taumata o te tautoko e hiahiatia ana e rerekē nui ana i runga i ngā tohutohu me ngā kaha o te tangata. Me hiahia pea ētahi tamariki ki ngā ratonga mātauranga motuhake, ā, ētahi atu ka hiahia noa ki ngā whakaritenga iti.

Kei te huri ngā pūngāwerewere i roto i te tuberous sclerosis hei mate pūngāwerewere?

Ko ngā pūngāwerewere e hono ana ki te tuberous sclerosis he ngāwari noa (kore mate pūngāwerewere). Heoi, kei te iti te piki o te tūponotanga o te whanaketanga o ētahi momo mate pūngāwerewere whatukuhu i muri mai i te ora, koia te take he mea nui te aroturuki auau.

Ka taea e ngā pakeke te whanaketanga o ngā tohutohu tuberous sclerosis mō te wā tuatahi?

Ahakoa kei te noho te tuberous sclerosis mai i te whānau, ka taea e ngā tohutohu te puta i tetahi tau. Kei ētahi pakeke e whakatauhia ana mō te wā tuatahi ina whānau ana rātou i ngā raruraru whatukuhu, ngā raruraru manawa, i te wā e whakatauhia ana ta rātou tamaiti me te TSC, ā, ka whakaatu te tirotiro whānau i ngā tohutohu kaore i te mohiotia i mua.