He aha te mate Wolfram? Me kōrero tātou mōna!

Kua rongo koe i te Wolfram Syndrome? Tērā pea he ingoa hou tēnei ki a koe. He mate ira onge tēnei e pāngia ana e te hunga torutoru noa iho, engari he tino kino. Ka taea e ia te kino i tō roro me ētahi atu kiko o tō tinana. He mea nui kia mōhio koe ki tēnei mate, inā koa ka tīmata te puta o ngā tohu i te wā tamarikitanga.

He aha rawa te Wolfram Syndrome?

I te whakarapopototanga, ko te mate Wolfram he mate ira e tukuna iho ana i ia whakatipuranga ki ia whakatipuranga. He mate neurodegenerative, arā, ka kino te roro me te pūnaha io i roto i te wā. Ka puta haere ngā tohu i te tīmatanga o te tamarikitanga tae noa ki te pakeketanga. Ko te mate huka me ngā raruraru tirohanga he tohu tuatahi o te mate i mua i te 15 tau te pakeke. I roto i te wā, ka ngoikore te mahi a te roro, ā, i ētahi wā ka morearea te ora.

He momo mate Wolfram anō kei reira?

Āe, kua kitea e ngā tākuta ngā momo ira e rua e pā ana ki tēnei mate. Kei te mōhio koe, ko ngā ira ko ngā wahi iti o te DNA kei roto ngā mōhiohio katoa i roto i ō tātou tinana. Ko te hunga whai mate Wolfram he rerekētanga kei roto i ēnei ira, e kiia nei e tātou he whakarerekētanga ira. Nō reira, ka whakarōpūtia kia rite ki te ira e pāngia ana:

• Te mate Wolfram momo 1: Ka puta tēnei i te whakarerekētanga o te ira e kiia nei ko te ``(ira WFS1)``.
• Te mate Wolfram momo 2: Ka puta tēnei i te whakarerekētanga o te ira e kiia nei ko te `(WFS2 (CISD2) gene)`.

Tērā pea he rerekētanga paku noa iho i roto i ngā tohu o ēnei momo e rua.

Me pēhea te tuku iho o tēnei mate?

I te nuinga o te wā, kia pāngia ai te tamaiti e te mate Wolfram, me kawe e ngā mātua e rua te whakarerekētanga ira e takea ana te mate. Ko te tikanga me riro i te tamaiti te ira kua whakarerekētia mai i ngā mātua e rua. Heoi, he tino onge te tukunga iho o te mate Wolfram momo 1 mai i te mātua kotahi anake.

He pēhea te noa o te mate Wolfram?

Nā te mea he tino onge tēnei mate, he uaua ki te kī tika e hia ngā tāngata e pāngia ana e tēnei mate. I kitea i roto i tētahi rangahau i te United Kingdom, tata ki te kotahi i roto i te 770,000 tāngata e pāngia ana e tēnei mate. Kua whakaatuhia e ngā rangahau mai i ētahi atu whenua he nui ake te kitea o tēnei mate i ētahi rohe, inā koa i roto i ngā hapori e moe ana, e whānau tamariki ana ngā whanaunga tata.

He onge ake te momo mate Wolfram 2. He torutoru noa ngā whānau kua pūrongohia puta noa i te ao.

He aha ngā tohu matua o te mate Wolfram momo 1?

Ehara i te mea ka pāngia te katoa e te mate Wolfram momo 1 e ngā tohumate ōrite, ā, ka rerekē pea i ia tangata, i ia tangata. Heoi, i te nuinga o te wā, ka puta mai ēnei tohumate i roto i tētahi raupapa, i te wā tamarikitanga me te taiohitanga. Anei te raupapa noa, me te tau noa e puta ai ngā tohumate:

• Mate Huka - I te nuinga o te wā i te 6 tau te pakeke: Ko te Mate Huka he raruraru ki te kaha o te tinana ki te mimiti i te huka, te hukahuka rānei, mai i te kai e kainga ana e tātou. I te nuinga o te wā, ka whakaputahia e tō tātou repe taiaki he homoni e kiia nei ko te insulin. Ka āwhina tēnei insulin i ō tātou pūtau ki te mimiti i te huka mai i te toto. Nō reira, ki te kore e tika te whakaputanga o te insulin, ki te kore rānei e pai te urupare a ngā pūtau ki te insulin e whakaputaina ana, ka tino teitei te taumata huka toto. He rite te mate huka e pā ana ki te mate Wolfram ki te mate huka Momo 1, engari ehara i te mate pūnaha ārai mate. Ko ngā tohu o te mate huka ko te mimi pinepine, te matewai nui, te tirohanga pōuri, me te whakahekenga taumaha kāore i te whakamāramatia .

• Te Atrophy o te Tirohanga Mata - Ka puta i te nuinga o te wā i te 11 tau te pakeke: He hekenga haere tēnei o te io whatu, e kawe ana i ngā karere mai i ngā kanohi ki te roro. Ka kiia hoki tēnei ko te Atrophy o te Tirohanga Mata. Ko ngā tohu pea ko te tirohanga pōuri, te ngaronga o te māramatanga, te ngaronga o te tirohanga tae, te ngaronga rānei o te tirohanga taha . Hei tauira, kāore pea ngā reta i runga i te nūpepa e mārama pērā i mua, kāore rānei te tamaiti e kite i te papa pango i te kura.

• Te ngaronga o te whakarongo - I te nuinga o te wā ka puta i te 13 tau te pakeke: He ngaronga whakarongo tēnei nā te kino o ngā wāhanga tairongo o te taringa o roto. Ka kiia tēnei ko te ngaronga whakarongo. Ka kino haere pea tēnei ngaronga whakarongo i te pakeketanga, ā, i ētahi wā , ka taea e ia te arahi ki te turi katoa. Me whakaneke ake te pouaka whakaata kia rongo ai koe, me pātai rānei koe "I aha koe i kōrero ai?" ina kōrero ana tetahi.

• Mate Huka Insipidus - I te nuinga o te wā i te 14 tau te pakeke: Ehara ianei tēnei i te mate huka `(Diabetes Mellitus)` kua whakahuatia ake nei? Ko te `(Diabetes Insipidus)` tēnei. Ko te mea ka tupu i roto i tēnei ko te kore e whakaputa tika i te homoni `(antidiuretic hormone)` e whakahaere ana i te nui o te wai i roto i tō tātou mimi, kāore rānei te tinana e aro tika ki taua mea. Ka puta he nui o te mimi, he rite ki te nui o te wai. Nā tēnei mimi nui, ka puta te matewai, te kore taurite o te electrolyte, te ngoikore, te waha maroke, me te mate kōroke.

Ko te ingoa tawhito o te mate Wolfram, ko ``(DIDMOAD)``. Ka hangaia mā te whakakotahi i ngā reta tuatahi o ēnei tohu matua:

* Diabetes Insipidus (DI) - Diarrhea

* Mate Huka (DM) - Mate Huka

* Te ngoikore o te tirohanga (OA) - Te ngoikore o te tirohanga

* Turi (D) - He ngoikore o te whakarongo/turi

He aha atu ētahi atu tohu o te mate Wolfram momo 1?

Haunga ēnei tohu matua e whā, tera pea ka puta mai ētahi atu tohu. Engari kāore ēnei e puta i te katoa.

• Ngā mate homoni: Te ngoikore o te pituitary gland, te ngoikore o te gonadism, te whakaroa o te tipu, me te whakaroa o te paheketanga i roto i ngā kōtiro.
• Ngā tohu e pā ana ki te pūnaha io: te kore e taurite te hikoi me te nekeneke (ataxia), te ngaronga o te mahara me te kaha ki te whakaaro (dementia), te ānini o te upoko, te mutu o te manawa mō te wā poto i te wā moe (central sleep apnea), ngā haurangi (epilepsy), me te ngaronga o te reka me te kakara.
• Ngā raruraru hinengaro: te pouri, te manukanuka, ngā whakaeke mataku, te hurihanga o te wairua, me ētahi whanonga tutu.
• Ngā raruraru o te pūnaha mimi: Ngā mate urutā maha o te ara mimi, te kore e taea te pupuri i te mimi, me te kore e taea te whakawātea i te pūkahukahu.

He aha ngā tohu o te mate Wolfram momo 2?

He rite ngā tohu o te hunga whai mate Wolfram momo 2 ki ērā o te momo 1. Heoi anō, ka pāngia pea rātou e ēnei e whai ake nei:

• Te toto rerekē.
• Ngā mate puku.

Heoi, ko te hunga whai mate huka momo 2 ka iti ake te pānga o te mate e kiia nei ko te mate huka insipidus me ngā raruraru hinengaro.

He aha te take o te mate Wolfram?

E ai ki tā tātou i kōrero ai, nā ngā āhuatanga ira tēnei i puta ai. Ko te tino take ko te tukunga iho o ētahi whakarerekētanga ira i roto i ngā ira `(WFS1)` me `(WFS2 (CISD2)` rānei mai i ngā mātua ki ngā tamariki.

Me pēhea te tautuhi i tēnei mate?

Ina hoki, he uaua pea te tautuhi i te mate Wolfram i ētahi wā. Nā te mea ka rongoatia motuhaketia ia tohu e ngā tākuta, kāore pea rātou e mōhio tonu he wāhanga katoa o te mate kotahi. He maha ngā wā, i muri i te putanga mai o ētahi tohu ka puta ake te whakapae he mate Wolfram pea.

Mena kei te whakapae te tākuta i tēnei, ka tūtohu ia kia whakamātauria he whakamātautau ira.Mā tēnei whakamātautau ka kitea tika mēnā he whakarerekētanga ira kei roto i ngā ira `(WFS1)` me `(WFS2 (CISD2)`. Mā tēnei ka taea te whakaū i te mate.

Me pēhea te rongoā i te Mate Wolfram?

Engari, kāore he maimoatanga paerewa i tēnei wā hei whakaora katoa i tēnei mate, hei aukati i te haere whakamua o te mate, hei whakaroa rānei i tōna tere. I tēnei wā, ko te mea anake e mahia ana ko te whakahaere i ngā tohu e puta mai ana. Hei tauira:

• Ka hoatu he insulin ki te hunga mate huka hei whakahaere i te taumata huka toto.
• Ka taea te whakamahi i ngā taputapu whakarongo e te hunga ngoikore te whakarongo.
• Ka rongoāhia hoki ētahi atu tohumate i runga i te tikanga.

Kei te rangahauhia ētahi maimoatanga hou?

Āe, he rongo pai tēnei! Kei te haere tonu ngā kairangahau ki te kimi i ngā maimoatanga hou hei whakapai ake i te kounga o te oranga mō te hunga e pāngia ana e te mate Wolfram. Anei ētahi o ngā maimoatanga e tino arohia ana i tēnei wā:

• Ngā rongoā e whakaiti ana i te kino ki ngā pūtau i puta mai i te whakararuraru i te mahi a te pūmua.
• Ka whakatikahia e te rongoā ira ngā ira `(WFS1)` me `(WFS2 (CISD2)` kua whakarerekētia, ka whakakapia rānei ki ngā ira pai.
• Ko te whakaora tinana he maimoatanga e whakaora ana i te kiko kua pakaru, e hanga ana rānei i te kiko hou.

Kei roto kē ētahi o ēnei maimoatanga i ngā whakamātautau haumanu. Ko ētahi kei te wāhanga rangahau tonu. Kōrero ki tō tākuta mō ēnei maimoatanga hou. Māna e kī atu ki a koe mēnā he tika ēnei mōu, mō tāu tamaiti rānei.

Ka taea te ārai i te mate Wolfram Syndrome?

Engari, kāore e taea te ārai i ngā āhuatanga ira pēnei i te mate Wolfram.

He mate whakamate tēnei?

E kiia ana he kino te āhua o te oranga o te hunga e pāngia ana e te mate Wolfram. I roto i tētahi rangahau i mahia ki te 45 tūroro, ko te roanga o te oranga i waenga i te 25 me te 49 tau, ā, ko te roanga o te oranga toharite he 30 tau. I te nuinga o te wā, ko te take o te mate ko te ngoikore haere o te kakau roro, te wāhanga o te roro e whakahaere ana i ngā mahi nui pēnei i te manawa me te manawa o te ngākau.

Heoi, kei te pai haere te āhua o tēnei āhuatanga nā te pai ake o ngā tikanga tātaritanga, ngā whakapainga o te whakahaere tohumate, me ngā tumanako mō ngā maimoatanga hou.

Āhea koe me kōrero ki te tākuta mō ngā whakamātautau ira?

Mena kei te pāngia tētahi o tō whānau e te mate Wolfram, he hītori rānei tōna mō tēnei mate, he mea nui kia kōrero koe ki tō tākuta mō ngā whakamātautau ira. Mā te whakamātautau toto, mā te tauira huware rānei e whakaatu ki a koe:

• He aha te mōrearea o te whānautanga o tētahi tamaiti me tēnei mate?
• Kimihia mēnā kei te pāngia tāu tamaiti e te mate Wolfram i mua i te puta mai o ngā tohu.

Ahakoa kāore anō kia kitea he rongoā mō te mate Wolfram i tēnei wā, kua whakaatuhia e ngā rangahau me ngā whakamātautau haumanu he pai mō ngā maimoatanga hou. Mena kei a koe, kei tētahi rānei o tō whānau he mate Wolfram, pātai atu ki tō tākuta mō ēnei whakamātautau haumanu.

He tino uaua te noho me te mate onge pēnei i te Wolfram Syndrome, ā, ka taea te taumaha rawa. Engari kia maumahara, kāore koe i te mokemoke. Pātai atu ki tō tākuta mō te tautoko, ngā mōhiotanga, me te āwhina pea i a koe ki te hono atu ki ētahi atu e pāngia ana e te taua āhuatanga. He tino āwhina taua momo tautoko.

Hei whakamutunga, ngā mea hei maumahara (Karere hei tango ki te kāinga)

He mate ira onge, uaua hoki te Wolfram Syndrome. Heoi, he mea nui kia mōhio ki tēnei mate, kia mōhio wawe ki ngā tohu, ā, kia rapu tohutohu hauora tika.

• Kia tūpato ki ngā tohu tōmua: Rapua he tohutohu hauora, inā koa mēnā ka pāngia te tamaiti e te mate huka (Diabetes Mellitus) me ngā raruraru tirohanga (Optic Atrophy) i te wā taitamariki.
• He mea nui te Tohutohu Ira: Mena kei roto i tō whānau tēnei mate, whakaarohia te tohutohu ira me te whakamātautau ira.
• Ka taea te whakahaere i ngā tohumate: Ahakoa kāore anō kia rongoatia katoatia i tēnei wā, ka taea te rongoā i ngā tohumate, ā, ka taea te whakahaere i te kounga o te oranga ki tētahi taumata.
• Kia tumanako ki ngā maimoatanga hou: Kei te haere tonu ngā rangahau, kia taea ai e tātou te tumanako ka pai ake ngā maimoatanga ā muri ake nei.
• Kāore koe i te mokemoke: He uaua pea te noho kaha hinengaro i roto i tēnei āhuatanga. Heoi, rapua he āwhina mai i ngā tākuta, i te whānau, me ngā rōpū tautoko.

Ko tāku tumanako he whai hua ēnei mōhiohio ki a koe. Mēnā he āwangawanga āu, kaua e wareware ki te kōrero ki te tākuta.

` Te Mate Wolfram, te mate ira, te mate huka, te ngoikore o te tirohanga, te ngoikore o te whakarongo, te mate pūnaha io, DIDMOAD