He aha te Epidermolysis Bullosa? Tohutohu, Take, me te Maimoatanga

Ko te epidermolysis bullosa (EB) tētahi āhuatanga tuku iho onge e tino ngoikore ai tō kiri, ā, e ngawari ai te pupuhi. Ahakoa te pā atu ngawari, te wēwē, te whara iti rānei, ka taea e te hunga nei te pupuhi mamae me ngā whara i runga i tō kiri, ā, i roto anō pea i tō tinana.

Whakaarohia te kiri penei i te pepa pepa. Ahakoa ka rerekē te pānga o tēnei āhuatanga ki te tangata, ko te take nui ko te kore o ngā pūmua kaha e hiahiatia ana kia mau ngā paparanga o tō kiri. Ka werohia ngā mahi o ia rā, engari mā te tiaki tika me te tautoko, ka ora maha ngā tāngata e pangia ana e te EB i ngā oranga whai hua.

He aha ngā tohu o te epidermolysis bullosa?

Ko te tohu nui ko te pupuhi e tino ngawari ai te puta atu i te mea tika. Ka puta ēnei pupuhi i ngā wāhi katoa o tō tinana, i ngā wāhi e wēwē ana te kakahu, i ngā wāhi e pā ana ki te wēwē o ia rā.

Ko ēnei ngā tohu tino noa ka kitea e koe:

• Pupuhi i runga i ngā ringa, ngā waewae, ngā turi, me ngā rekereke mai i ngā mahi o ia rā
• Kiri ngoikore e pakaru ana, e pū ana rānei ki te pā iti
• Pupuhi i roto i te waha, i te korokoro, i te pūnaha kai rānei
• Kiri mātotoru, pakari i runga i ngā ringaringa me ngā kapu waewae
• Whakaheke i muri i te whakaora o ngā pupuhi
• Ngawari te ngaro, te pakaru rānei o ngā makawe ringa me ngā makawe waewae
• Pātai niho penei i te pirau o ngā niho, te ngoikore rānei o te enamel

I ngā take kino atu, ka pā pea koe ki te pupuhi i roto i tō esophagus e uaua ai te horomi, i ngā raruraru kanohi rānei e pā ana ki tō tirohanga. Ka whanake pea etahi i te mate toto iti nā te whara roa me ngā tukanga whakaora.

Ka puta ngā tohu i te wā tamariki, i te wā tamariki rānei, ahakoa ka kore pea e kitea ngā momo ngawari rawa kia tae rawa ki te ao.

He aha ngā momo o te epidermolysis bullosa?

E whā ngā momo matua o te EB, e pā ana ki ngā paparanga rerekē o tō kiri. Ko te mārama ki te momo kei a koe ka āwhina i ngā tākua ki te whakarato i te tiaki me te mahere maimoatanga tino tika.

Ko te Epidermolysis Bullosa Simplex (EBS) te momo tino noa me te ngawari. Ka puta ngā pupuhi i te paparanga o runga o te kiri, ā, ka whakaora ngāwari me te kore whakaheke. Ka kite pea koe i te pupuhi nui ake i te wā wera, i te wā mahi nui rānei.

Ko te Dystrophic Epidermolysis Bullosa (DEB) e pā ana ki ngā paparanga hohonu o te kiri, ā, ka tino whakaheke. Ka taea e tēnei momo te whakakōpaki i ngā matihao me ngā maihao i te wa roa, ā, ka uru pea ki ngā kōpū o roto penei i te esophagus.

Ko te Junctional Epidermolysis Bullosa (JEB) e whanake ana i te paparanga e hono ana i ngā wāhanga o runga me raro o tō kiri. Ka taea e tēnei momo te ngawari ki te kino, ā, ko ētahi momo iti te ora i te wā tamariki.

Ko te Kindler Syndrome te momo onge rawa, e whakakotahi ana i ngā āhuatanga o ētahi atu momo. Ka tino pā te hunga nei ki te rā, ā, ka whanake pea ngā huringa kiri e rite ana ki te koroheketanga wawe.

He aha ngā take o te epidermolysis bullosa?

Ka puta te EB nā ngā huringa (mutations) i ngā ira e hanga ana i ngā pūmua e kawea ana e te mau o ngā paparanga o tō kiri. Ka mahi ēnei pūmua hei piripiri, hei āhei rānei, ā, ki te kore e mahi tika, ka ngoikore tō kiri.

He āhuatanga tuku iho tēnei, ā, ko te tikanga ka tukuna mai i ngā mātua ki ngā tamariki mā ngā ira. Engari, ka rerekē te tauira tuku i runga i te momo EB kei a koe.

Ko te nuinga o ngā momo e whai ana i te tuku ‘autosomal recessive’. Ko te tikanga me mau ngā mātua e rua ki te ira i hurihia kia whanake ai tō tamaiti i te EB. Ko ngā mātua e mau ana ki tētahi kōpe, ka kore pea e kitea ngā tohu, engari ka taea te tuku ki ō rātou tamariki.

Ko ētahi momo e whai ana i te tuku ‘autosomal dominant’, kei reira tetahi mātua anake e hiahia ana kia mau ki te ira i hurihia. I ngā take onge, ka puta pea te EB hei huringa ira hou, ko te tikanga kāhore tētahi o ngā mātua e pangia ana e te āhuatanga, kāhore rānei e mau ana ki te ira.

Nōhea te haere ki te tākua mō te epidermolysis bullosa?

Me haere koe ki te tākua mēnā ka whanake koe, tō tamaiti rānei i ngā pupuhi e tino ngawari ana te puta mai, kāhore rānei he take mārama. He mea nui tēnei, ina koa ki te puta ngā pupuhi ki te pā ngawari, ki ngā mahi o ia rā rānei.

Rapua te awhina hauora tonu mēnā ka kite koe i ngā pupuhi i roto i te waha, i te korokoro rānei e uaua ai te kai, te inu rānei. Tātaihia hoki ngā tohu o te mate i ngā whara, penei i te whero nui ake, te wera, te pupuhi, te pū rānei.

Mēnā he hītori whānau o te EB kei a koe, ā, kei te whakaaro koe ki te whānau tamariki, ka taea e te tohutohu ira te āwhina i a koe ki te mārama ki ngā tūponotanga me ngā kōwhiringa kei te wātea.

Kaua e tatari mēnā ka kite koe kua whakaora ngā pupuhi, kua mate ngāwari rānei, kei te pāngia rānei tō kaha ki te kai, ki te inu, ki te mahi i ngā mahi o ia rā. Ka taea e te tiaki motuhake te āwhina i te aukati i ngā raruraru, te whakapai ake rānei i te kounga o te ora.

He aha ngā tūponotanga mō te epidermolysis bullosa?

Ko te tūponotanga matua ko te mau o ngā mātua ki ngā huringa ira e puta ai te EB. Nā te mea he āhuatanga tuku iho tēnei, ko tō hītori whānau te mea nui rawa ki te whakatau i tō tūponotanga.

Mēnā e rua ngā mātua e mau ana ki te ira recessive mō te EB, he 25% te tūponotanga o ia haputanga kia puta mai he tamaiti e pangia ana e te āhuatanga. Ki te mau tētahi mātua ki te momo dominant o te EB, he 50% te tūponotanga o ia tamaiti kia whiwhi i te āhuatanga.

Ko te mau o ngā teina, o ētahi atu whānau tata rānei e pangia ana e te EB ka nui ake te tūponotanga kia mau koe, kia pangia rānei e te āhuatanga. Engari, he mea tika te kī ka puta pea te EB hei huringa ira hou, ahakoa i ngā whānau kāhore he hītori o mua.

Ka nui ake pea ngā reiti o ētahi momo EB i ētahi iwi, engari ka taea e tēnei āhuatanga te pā ki te tangata o te iwi, o te momo rānei.

He aha ngā raruraru pea o te epidermolysis bullosa?

Ahakoa ka whakahaere maha ngā tāngata e pangia ana e te EB i tō rātou āhuatanga, ka taea e ētahi raruraru te whanake i te wā roa. Ko te mārama ki ēnei tūponotanga ka āwhina i a koe ki te mahi tahi me tō rōpū hauora ki te aukati, ki te whakahaere rānei i te wā wawe.

Ko ēnei ngā raruraru ka puta:

• Ngā whara roa e whakaora ana i te wā roa, ā, e ngawari ana te mate
• Whakaheke e taea ai te whakaiti i te nekehanga, ina koa i ngā hononga
• Te whakakōpaki o ngā matihao, o ngā maihao rānei (pseudosyndactyly)
• Te whakaiti o te esophagus, e uaua ai te horomi
• Te mate toto iti mai i te ngaro toto roa me te kai ngoikore
• Raruraru whatukuhu i ētahi momo kino
• Raruraru kanohi tae atu ki ngā pakaru corneal
• Te nui ake o te tūponotanga o te mate pūngāwerewere i ngā wāhi kino

Ka puta ngā wero kai nā te mea ka mamae pea te kai ina puta ngā pupuhi i te waha, i te korokoro rānei. Ka taea e tēnei te arahi ki te ngaro o te taumaha, te whakaheke o te tipu i ngā tamariki, me ngā ngoikoretanga i ngā huaora me ngā kohuke nui.

I ngā take onge, ka taea e ngā momo kino o te EB te arahi ki ngā raruraru mate i te wā tamariki. Engari, mā te tiaki hauora tika me te tautoko, ka taea te aukati, te whakahaere rānei i ēnei raruraru.

Me pēhea te whakatau i te epidermolysis bullosa?

Ka whakatau ngā tākua i te EB mā te tirotiro i tō kiri me te tango i te hītori hauora taipitopito. Ka titiro rātou ki te tauira pupuhi, ā, ka ui ki te wā i puta tuatahi ngā tohu, me te aha ngā mea whakaohooho.

He mea tika te tango i te kōeke kiri ki te whakau i te whakatau, ki te whakatau rānei i te momo EB kei a koe. I te wā o tēnei tukanga, ka tango tō tākua i te tauira iti o te kiri, ā, ka tirotiro i raro i ngā maikoroiti motuhake kia kitea te wāhi o te wehewehenga kiri.

Ka taea e te whakamātautau ira te kite i ngā huringa ira motuhake e puta ai tō EB. Ka āwhina ēnei korero ki te kī he pēhea te haere o te āhuatanga, ā, ka ārahi i ngā whakatau maimoatanga. He mea nui hoki mō te whakarite whānau me te tohutohu ira.

Ka tono pea tō tākua i ngā whakamātautau toto ki te tirotiro i te mate toto iti, i ngā ngoikoretanga kai rānei. Mēnā he uaua ki a koe te horomi, ka tono pea rātou i ngā rangahau whakaahua ki te tirotiro i tō esophagus me tō pūnaha kai.

He aha te maimoatanga mō te epidermolysis bullosa?

Ahakoa kāhore anō he rongoā mō te EB, ko ngā maimoatanga e aro ana ki te tiaki i tō kiri, ki te whakahaere i ngā tohu, ki te aukati rānei i ngā raruraru. Ko te whāinga ko te āwhina i a koe ki te ora i te ngāwari me te kaha.

Ko te tiaki whara te turanga o te maimoatanga EB. Ka uru atu tēnei ki te horoi ngawari i ngā pupuhi me ngā whara, ki te whakamahi i ngā kakahu motuhake, me te whakamahi i ngā tikanga e whakatairanga ana i te whakaora me te aukati i te mate.

Ko ēnei ngā huarahi maimoatanga matua:

• Ngā kakahu whara motuhake e kore e piri ki te kiri ngoikore
• Ngā hua tiaki kiri ngawari me ngā tikanga
• Te whakahaere mamae mā ngā rongoā tika
• Te tautoko kai ki te pupuri i te tipu me te whakaora tika
• Te rongoā tinana ki te pupuri i te nekehanga me te aukati i te whakaheke
• Ngā rongoā mate ina puta ngā mate
• Te pokanga mō ngā raruraru kino penei i te whakaiti o te esophagus

Ka uru pea tō rōpū hauora ki ngā tākua kiri, ngā tohunga tiaki whara, ngā tohunga kai, me ngā tohunga rongoā tinana. Ka mahi tahi rātou ki te hanga i te mahere tiaki whānui e rite ana ki ō hiahia motuhake me tō momo EB.

Kei te rangahauhia ngā maimoatanga hou, tae atu ki te rongoā ira me te rongoā whakakapi pūmua. Ahakoa kāhore anō ēnei e wātea ana, ka hoatu e rātou te tumanako mō ngā maimoatanga nui ake i te wā kei te heke mai.

Me pēhea te whakahaere i te epidermolysis bullosa i te kāinga?

Ko te tiaki kāinga o ia rā he mea nui ki te whakahaere tika i te EB. Mā ngā tikanga me ngā taputapu tika, ka taea e koe te whakaiti i te pupuhi me te āwhina i ngā whara kia tere ake te whakaora.

He mea nui te tiaki kiri ngawari. Whakamahia te wai mahana mō te kaukau, ā, patu maroke tō kiri kaua e wēwē. Kōwhiria ngā kakahu ngawari, ngawari te noho, ā, kaua e whakamahi i ngā mea ka pāngia e te wēwē, te mamae rānei.

Koinei te huarahi e taea ai e koe te tiaki i a koe, i te tangata aroha rānei e pangia ana e te EB i te kāinga:

• Pupuri i ngā makawe ringa poto rawa, ngawari kia kaua e kiko
• Whakamahia te pupuri motuhake, te whakamarumaru rānei i ngā wāhi e ngawari ana te pupuhi
• Whakamahia ngā whakamakuku kia mau te kiri, kia kore ai e pakaru
• Hurihia ngā kakahu whara i ia wā mā te tikanga horoi
• Tātaihia ngā whara mō ngā tohu o te mate penei i te whero nui ake, te pū rānei
• Pupuri i te kai pai hei tautoko i te whakaora
• Noho makuku kia ora ai tō kiri

Ko te hanga i te taiao haumaru i te kāinga ka āwhina i te aukati i ngā whara koretake. Tangohia ngā tapa pakari, whakamahia ngā taonga ngawari, ā, kia tino mārama kia kaua e tū ngā tūnga, ngā hinga rānei e taea ai te pupuhi hou.

Kaua e whakaroa ki te whakapiri atu ki tō rōpū hauora ina he pātai, he awangawanga rānei kei a koe mō te tiaki whara. Ka taea e rātou te whakarato i ngā aratohu motuhake me te whakarite i tō mahere tiaki kia rite ki te hiahia.

Me pēhea te whakarite mō tō hui tākua?

Ko te whakarite mō tō hui ka āwhina i te whakarite kia whiwhi koe i te painga nui mai i tō wā me te rōpū hauora. Mau mai he rārangi o ngā tohu o nāianei, ngā rongoā, me ētahi pātai e hiahia ana koe ki te kōrero.

Pupurihia he tātai tohu e tuhi ana i te wā e puta mai ana ngā pupuhi, te aha pea ngā mea whakaohooho, me te pēhea o te whakaora. Tangohia ngā whakaahua o ngā whara rānei, o ngā huringa kiri rānei ki te whakaatu ki tō tākua.

Tuhia ngā rongoā me ngā maimoatanga katoa kei te whakamahi koe, tae atu ki ngā hua i hokona i te toa me ngā rongoā kāinga. Ka āwhina tēnei i tō tākua ki te mārama ki te aha te mahi, me te aha pea e hiahia ana ki te whakarite.

Whakaritea ngā pātai mō te tiaki o ia rā, ngā herenga mahi, me te wā ki te rapu awhina mate. Uihia mō ngā rauemi mō ngā taputapu, ngā rōpū tautoko, me ngā tohunga ka āwhina pea mō tō āhuatanga motuhake.

Me pēhea te aukati i te epidermolysis bullosa?

Nā te mea he āhuatanga ira te EB, kāore e taea te aukati i te tikanga noa. Engari, ka taea e te tohutohu ira te āwhina i ngā whānau ki te mārama ki ō rātou tūponotanga me te whakatau whakamārama mō te whānau tamariki.

Mēnā kei a koe te EB, kei te mau rānei koe ki ngā ira mōna, ka taea e ngā tohunga ira te whakamārama i te tūponotanga o te tuku i te āhuatanga ki ō tamariki. Ka taea hoki e rātou te kōrero mō ngā kōwhiringa penei i te whakamātautau i mua i te whānautanga, i ngā hangarau whakawhānau tautoko rānei.

Mō te hunga kua pangia e te EB, ko te aukati e aro ana ki te karo i ngā pupuhi hou me ngā raruraru. Ko te tikanga ko te tiaki i tō kiri mai i te whara, te pupuri i te kai pai, me te whai tonu i tō mahere tiaki.

Ka taea e te whakauru wawe me te tiaki whara tika te aukati i ngā raruraru maha e hono ana ki te EB. Ko ngā tirotiro auau me tō rōpū hauora ka āwhina i te hopu me te whakahaere i ngā raruraru i mua i te kino.

He aha te mea nui mō te epidermolysis bullosa?

He āhuatanga wero te EB e hiahia ana ki te tiaki me te aro tonu, engari ka ora maha ngā tāngata e pangia ana e te EB i ngā oranga tino pai. Ko te mea nui ko te mahi tahi me ngā kaiwhakarato hauora mohio me te ako i ngā tikanga tiaki whai hua.

Ahakoa kāhore anō he rongoā, kei te haere tonu te rangahau ki te whakapai ake i tō mārama me ngā kōwhiringa maimoatanga. Ka taea e ngā maimoatanga o nāianei te whakapai ake i te kounga o te ora me te aukati i ngā raruraru maha ina whakamahia tonu.

Mahara ka rerekē te pānga o te EB ki te tangata katoa. Ko te mea e mahi ana mō tētahi ka hiahia pea ki te whakarite mō tētahi atu, na kia noho tonu te hono atu ki tō rōpū hauora ki te whakapai ake i tō mahere tiaki.

Hono atu ki ngā whakahaere tautoko EB me ētahi atu whānau e pā ana ki tēnei āhuatanga. Ka taea e rātou te whakarato i ngā tohutohu mahi, te tautoko ngākau, me ngā whakahōu mō ngā rangahau hou me ngā maimoatanga ka āwhina pea i a koe.

Ngā pātai e ui pinepinetia ana mō te epidermolysis bullosa

He mate ka taea te hora te epidermolysis bullosa?

Kāo, kāore te EB e hora. He āhuatanga ira tēnei e whānau ana koe, ehara i te mea ka taea te hopu, te hora rānei ki ētahi atu tāngata. Ko ngā pupuhi me ngā whara e puta ana i te kiri ngoikore, ehara i te mate huaketo, i ngā huaketo rānei e taea te tuku ki ētahi atu.

Ka taea e ngā tāngata e pangia ana e te epidermolysis bullosa te whānau tamariki?

Ae, ka taea e te nuinga o ngā tāngata e pangia ana e te EB te whānau tamariki. Engari, he tūponotanga o te tuku i te āhuatanga ki ō rātou tamariki i runga i te momo EB me te tūāhua ira o tō rātou hoa. Ka taea e te tohutohu ira i mua i te haputanga te āwhina i a koe ki te mārama ki ēnei tūponotanga me te torotoro i ō kōwhiringa.

Ka kino ake te epidermolysis bullosa i te wā roa?

Ka rerekē te pānga o te EB ki te tangata i o rātou oranga. Ka mau tonu ētahi momo, ā, ka taea e ētahi atu te arahi ki te whakaheke nui ake, ki ngā raruraru rānei i te wā roa. Engari, mā te tiaki tika me te whakahaere hauora, ka taea te aukati, te whakaiti rānei i ngā raruraru maha. Ko te whakauru wawe me te tiaki whara tonu ka nui te rerekētanga ki ngā hua roa.

Ka taea e ngā pakeke te whanake i te epidermolysis bullosa i muri mai i te ao?

Kei te wā whānau te EB ira pono, ahakoa ka kore pea e whakatauhia ngā momo ngawari rawa kia tae rawa ki te pakeketanga. Engari, he āhuatanga onge te epidermolysis bullosa acquisita e taea te whanake i ngā pakeke nā ngā raruraru mate ā-tinana, kāore i ngā take ira. E hiahia ana tēnei ki ngā huarahi maimoatanga rerekē i te EB ira.

He mahi kei reira ngā tāngata e pangia ana e te EB me karo rawa?

Ahakoa me tupato ngā tāngata e pangia ana e te EB mō ngā mahi e puta ai te wēwē, te whara rānei, ka taea e te nuinga te whai wāhi ki ngā momo whakarite o ngā hākinakina me ngā whakaongaonga e pai ana ki a rātou. Ko te kaukau te mea ngāwari, ā, ka uaua pea ngā hākinakina hono. Mahi tahi me tō rōpū hauora ki te kimi i ngā huarahi haumaru ki te noho kaha me te whai wāhi ki ngā mahi nui ki a koe.