Kei te pāngia tō tamaiti e ēnei tohu rerekē? Me kōrero tātou mō te Hurler Syndrome.

Me āwangawanga tonu koe mō te whanaketanga me te whanonga o tāu tamaiti, tika? I ētahi wā, he mea noa te mataku ina kore ngā mea e haere pērā i te mea i tumanakohia. I tēnei rā ka kōrero tātou mō tētahi mate onge engari he mea nui hei mōhio. Ko te ingoa o tēnei mate ko te Hurler Syndrome. Kāore pea koe i rongo i tēnei ingoa i mua. Engari he mea tika kia mōhio koe ki tēnei ingoa, inā koa mēnā kua pāngia tētahi o tō whānau e tēnei mate.

He aha te Hurler Syndrome? Kia mārama tātou!

Āe, me titiro tuatahi tātou ki te aha te Hurler Syndrome. He kupu ngāwari noa iho, he mate ira onge tēnei. E kiia ana ko te momo tino kino o tētahi rōpū mate e kiia nei ko te Mucopolysaccharidosis momo 1 (MPS 1). Ko ētahi o ngā huka matatini i roto i ō tātou tinana, inā koa ko ngā glycosaminoglycans (i mua ko ngā mucopolysaccharides), me whai whākōkī motuhake hei wawahi i a rātou, hei tango atu hoki i te tinana. Kāore te tangata whai Hurler Syndrome e whakaputa i tēnei whākōkī, he iti noa iho rānei te hanga.

Whakaarohia, he aha te mea ka tupu mēnā kāore te kaikōhi para i roto i tō tātou whare e mahi tika? Ka puranga te para, tika? Koinei te āhua. Ina ngaro tēnei whākōkī, ka kohikohi aua huka ki ngā wāhanga o te tinana e kiia nei ko ngā `(lysosomes)` i roto i ngā pūtau. He rite ēnei `(lysosomes)` ki ngā 'pokapū horoi' iti i roto i ō tātou pūtau. Kātahi ka kohikohi aua huka ki roto i ēnei, ā, ka kī tonu pērā i te puranga para. Ka kiia hoki tēnei ko te `(lysosomal storage condition)`. Ina tupu tēnei, kāore e taea e ngā pūtau te mahi tika, ā, i ētahi wā ka mate ngā pūtau. Koinei te take e puta ai ngā tohu o te mate Hurler.

Ka taea e tēnei āhuatanga te whakararu i ngā wheua me ngā hononga, ngā āhuatanga motuhake o te kanohi, ngā raruraru whanaketanga hinengaro, ngā mate ngakau, ngā raruraru pukahukahu, me te nui haere o te ate me te whēkau . Mēnā ka puta tēnei i roto i te tamaiti, ka mōrearea pea ngā tohu, ā, heoi anō, ka taea te whakapoto i te roanga o te oranga.

He aha atu anō kei roto i tēnei wāhanga e kiia nei ko te MPS I?

I kōrero mātou i mua ake nei ko te mate Hurler te mea tino kino o te rōpū `(MPS I)`. E rua atu ngā momo o tēnei rōpū `(MPS I)`.

• Te mate Hurler - Koinei te momo tino kino e kōrerohia ana e tātou.
• Te mate Hurler-Scheie - He momo mate pāwera tēnei, he āhua taumaha noa iho.
• Te mate Scheie - Koinei te momo tino kino o tēnei rōpū.

He rerekē ngā taumata o ēnei momo e toru o te mate kotahi. He ngawari ake, he kino ake. E kīia ana e ngā tākuta ngā momo e rua kāore i te tino kino ko te "attenuated MPS I".

Ko ngā rerekētanga matua i waenga i ēnei momo ko te wā e puta ai ngā tohu, te tere o te mate, me te pānga ki te hinengaro. I roto i te mate Hurler, ka puta pinepine ngā tohu i muri tata mai i te whānautanga.He pānga nui anō hoki tōna ki te whanaketanga hinengaro. I roto i ētahi atu momo `(attenuated MPS I)`, kāore pea ngā tohu e puta tae noa ki te ono, ki te whitu rānei tau te pakeke. Waihoki, kāore te pānga ki te hinengaro i te tino kino pērā i te mate Hurler. Nō reira, ko te hunga whai `(attenuated MPS I)` ka ora pea i te roanga o te oranga noa.

Ko wai ka pāngia e te Hurler Syndrome?

He whakarerekētanga ira tēnei ka pā ki tētahi tamaiti. Heoi, mēnā kua pāngia tētahi o tō whānau e te Mucopolysaccharidosis momo I, he nui ake te mōrearea o tāu tamaiti ki te whakawhanake i tēnei mate. Ehara tēnei i te mea i mahia e te whaea i te wā e hapu ana.

E hia te auau o tēnei āhuatanga?

He mate onge te Hurler Syndrome. E kiia ana ka pā ki te kotahi i roto i te 100,000 pēpi hou. He ōrite te tūponotanga ka pāngia ngā tāne me ngā wāhine. Ko te momo MPS I iti ake te kino, i whakahuatia i mua ake nei, ka pā ki te kotahi i roto i te 500,000 pēpi hou.

He pēhea te pānga o te Hurler Syndrome ki te tinana o te pēpi?

He maha ngā āhuatanga e pāngia ana e tēnei āhuatanga o te tinana e tipu haere ana o te pēpi. Ko ētahi o ngā tohu ā-tinana e puta mai ana he mea motuhake ki tēnei āhuatanga. Hei tauira:

• He nui ake te upoko i te mea noa.
• Ko ngā kanohi kapua te wā e ahua kapua ana te wāhanga mā o te kanohi (cornea) e karapoti ana i te mowhiti pango o te kanohi.
• Ngā Āhuatanga o te Kanohi: Te tawhiti nui ake i waenga i ngā kanohi, te rae nui, te ihu papatahi, ngā ngutu nui, me ētahi atu.
• Ka pā anō hoki ki te whanaketanga o ngā wheua, ka heke ai te teitei o te pēpi (te poto o te manawa).

Haunga ēnei tohu o waho, ka pāngia hoki ngā whekau o roto o te tinana. Ina koa ko te ngākau me ngā pukahukahu. Nā tēnei, ka pāngia pea te pēpi e ngā mate taringa, ngā mate sinus, me ngā mate pukahukahu. I ētahi wā, ka hiahiatia pea he mīhini hei āwhina i te manawa, ā, ka hiahiatia pea he pokanga hei whakatika i ngā kino o ngā whekau.

Ka taea e ngā tohu o te mate Hurler te whakararu i te ora. Heoi, ki te kitea wawetia te mate, ā, ka rongoatia hoki, ka taea te roa ake te ora o te pēpi.

Mena kei te whakaaro koe kia hapu ā muri ake nei, he mea pai kia mārama koe ki ngā mōrearea o ēnei mate tuku iho, kia kōrero ki tō tākuta, kia ako hoki mō ngā whakamātautau ira.

He aha ngā tohu o te Hurler Syndrome?

Ka rerekē ngā tohu o tēnei mate i ia tangata, i ia tangata, ā, ka rerekē anō hoki te kaha. Ka tīmata ngā tohu i te wā kōhungahunga. Ko tētahi o ngā āhuatanga matua e wehewehe ana i tēnei mai i ētahi atu momo MPS I ko te whakaroa i te whanaketanga hinengaro i te tīmatanga o te ao, ā, ka heke haere te ako me te mahara i roto i te wā.I ngā momo ngawari o te MPS I, kāore e tino pāngia te hinengaro.

Anei ētahi atu tohu o te mate Hurler:

• Ngā raruraru o te takirere o te ngākau, te ngoikore o te uaua o te ngākau (cardiomyopathy)
• Te ngaronga o te rongo, te ngaronga katoa rānei o te rongo
• Te kohikohinga o te wai cerebrospinal huri noa i te roro (hydrocephalus)
• Te whakanui ake i ngā whekau me ngā kiko honohono, pērā i te ate, te whēkau, ngā tonsils, me ngā uaua
• Ngā raruraru tirohanga, hei tauira, te pikinga o te pēhanga kanohi (glaucoma)
• Ngā raruraru hononga (te pakari o ngā hononga, te mate carpal tunnel, ngā mate hononga)
• Ngā mate manawa maha, te apnea moe, ngā uauatanga manawa
• Hernias (nga pupuhi i roto i te puku, i te uma rānei)

Ngā āhuatanga kitea o waho

I te tau tuatahi o tō pēpi, ka tīmata pea koe ki te kite i ēnei tohu o waho:

• Te roa poto
• Te korenga o te tūnga tika o ngā wheua (dysostosis)
• He piko whakamua o te tuara o runga (pērā i te tuara piko) (te kyphosis o te uma me te hope)
• Te tupu nui o ngā huruhuru i te tinana, inā koa i te mata me te tuara

He aha te take mō tēnei?

Ko te tino take o te mate Hurler he whakarerekētanga ira i roto i te ira e kiia nei ko te `IDUA`. Ko tēnei ira `IDUA` te mea e tuku tohutohu ana ki te hanga i ngā `(ngā whākōkī lysosomal)` i kōrerohia e tātou i mua ake nei. Kia mahara, ka pakaruhia e tēnei whākōkī ngā hua para (aua huka) i roto i ngā pūtau. Kātahi, ina kore e mahi tika tēnei ira `IDUA`, kāore taua whākōkī e whakaputaina i roto i te nui e ranea ana. Nō reira, ka kohia aua hua para i roto i ngā pūtau, ā, ka mate ngā pūtau, ka kore rānei e mahi tika. Koinei te take e puta ai ngā tohu o te mate Hurler.

Me pēhea te puta mai o tēnei i tētahi whakatipuranga ki tētahi whakatipuranga?

He mate tuku iho tēnei, arā, ka tukuna iho i te mātua ki te tamaiti. Ka tukuna iho i roto i te tikanga tuku iho ā-ira-iwi. Ki te kī ngāwari, kia pāngia ai te tamaiti e tēnei mate, me whiwhi te tamaiti i te ira `IDUA` hapa mai i te whaea me te pāpā. Mēnā kotahi anake te mātua e whiwhi ana i te ira hapa, e kore te tamaiti e pāngia e te mate. Heoi anō, ka taea e taua tamaiti te noho hei 'kaikawe' o te mate. Ko te tikanga o tēnei ahakoa kāore he tohu, ka taea e rātou te tuku i te ira ki ā rātou tamariki.

Me pēhea te tautuhi i te mate Hurler Syndrome?

He waimarie, kei reira ngā whakamātautau hei kite i tēnei mate i mua i te whānautanga o te pēpi. Ka kiia ēnei he whakamātautau tirotiro i mua i te whānautanga.

• Amniocentesis: Ko te tango i tētahi tauira iti o te wai amniotic e karapoti ana i te pēpi, ka whakamātautau ai.
• Te whakamātautau i tētahi wāhanga iti o te kiko mai i te whenua kōiwi (chorionic villus): Ko te tango i tētahi wahi iti o te kiko mai i te whenua kōiwi ka whakamātautau i taua wāhanga.

Ka taea e ēnei whakamātautau e rua te tirotiro mō ngā hapa ira i roto i te DNA o te pēpi.

I muri i te whānautanga o te pēpi, ka tirotirohia e te tākuta te pēpi, ka tirohia ngā tohu, ā, ka whakahaerehia he whakamātautau mahi whākōkī hei whakaū i te mate. Ka pātai atu hoki rātou mēnā kua pāngia tētahi o te whānau e tēnei mate (mucopolysaccharidosis), nā te mea ka taea te tuku iho.

I ētahi wā, ka mahia pea ētahi atu whakamātautau hei whakaū i te mate. Hei tauira:

• He hihi-X hei tirotiro i ngā wheua o te pēpi
• He echocardiogram (matawai ngākau)
• Ngā whakamātautau toto me te mimi

He aha te rongoā mō tēnei?

Ko te maimoatanga mō te mate Hurler e arotahi ana ki te aukati me te whakahaere i ngā tohu.

Ko ngā maimoatanga matua e rua e wātea ana i tēnei wā ko:

1. Te Whakaora Whakakapinga Whākōkī (ERT): Ko tēnei ko te hoatu i tētahi whākōkī e ngaro ana i te tinana. Ko te ingoa o te whākōkī ko te alpha L-iduronidase (ingoa waitohu aldurazyme). Ka āwhina tēnei ki te ārai i te kino haere o ngā tohu me te whakakore i ētahi raruraru. Ka tīmatahia tēnei maimoatanga i te wā tonu ka kitea te mate. He maimoatanga mō te wā katoa tēnei e hoatu ana hei werohanga . Mā te tākuta e whakatau te auau o te werohanga, i runga i te kaha o te mate.

2. Te Whakatō Pūtau Taketake Hematopoieti (HSCT): He whakatō wheua wheua noa iho tēnei. Ko te tikanga ka tukuna tēnei maimoatanga ki ngā tamariki kei raro iho i te rua tau te pakeke (i ētahi wā he pakeke ake, i raro i te tirotiro a te rata). I ngā wā tino kino, ka taea e ia te āwhina ki te whakaroa i te oranga, te ārai i te horapa o te mate, te tiaki i ngā pūkenga hinengaro, me te whakaiti i ngā tohu ā-tinana. Kei roto i tēnei ko te whakatō i ngā pūtau take e whakaputa whākōkī ana mai i te wheua wheua o tētahi kaituku hauora ki roto i te tamaiti.

Haunga ēnei maimoatanga matua, kei reira ētahi atu maimoatanga hei whakahaere i ngā tohumate:

• Pokanga: Ka taea te mahi pokanga hei whakatika, hei whakakapi rānei i ngā takirere o te ngākau, hei tango i ngā katarata me te whakauru i tētahi karāhe horihori (whakakapinga kornea), hei whakatika i ngā āhuatanga rerekē o te tipu o te wheua, me te whakatika i ngā hernia.
• Ngā maimoatanga whakaora maha: Te whakaora tinana, te whakaora mahi, te whakaora kōrero, me ētahi atu.
• Mena he uaua ki a koe te manawa, whakamahia he taputapu pēnei i te mīhini CPAP.
• Mena he ngoikore tō taringa, whakamahia ngā taputapu whakarongo.
• Ngā rongoā mamae hei whakaiti i te mamae e puta mai ana i ngā tohu.

He raruraru kei te puta mai i te maimoatanga?

I ētahi wā, ka puta pea ngā raruraru nā te rongoā whakamoe i hoatu i te wā pokanga, nā te mea he uaua ki ēnei tamariki te manawa, ā, he uaua ki te whakauru i te aho IV nā te pakaru o ngā hononga.

Hei tāpiri atu ki tēnā, kia tino whai hua ai ngā maimoatanga ERT me HSCT, he mea nui kia tīmata i te wā tika. Mā te whakaroa i te maimoatanga, inā koa kua puta kē ngā tohu e pā ana ki te whanaketanga hinengaro, ka whakaiti pea i ngā hua. Nō reira, i mua i te tīmatanga o te maimoatanga mō tāu tamaiti, kōrero ki tō tākuta mō ngā pānga taha, ngā raruraru rānei ka pā mai.

He ara hei ārai i tēnei āhuatanga kei pā ki te pēpi?

Engari, he mate ira te mate Hurler, nō reira kāore e taea te ārai. Heoi, ki te mea kei te whakaaro koe kia whānau tamariki ā muri ake nei, he mea pai kia toro atu ki te tākuta mō te tohutohu ira, ā, ki te tika, me te whakamātautau ira kia mārama ai koe ki te mōrearea o te pāngia o tāu tamaiti e tēnei mate ira.

He aha te mea ka tupu mēnā ka whānau tāu pēpi me te Hurler Syndrome?

He tino pouri tēnei ki te rongo. Kāore i te tino pai te matapae mō ngā tamariki e pāngia ana e te mate Hurler. Nā te kaha o ngā tohu o tēnei mate, inā koa ngā pānga ki te ngākau me ngā pukahukahu, ko te roanga o te oranga o te tamaiti he 10 tau te roa. Heoi, ki te kitea wawe te mate, ā, ka tīmatahia ngā maimoatanga pēnei i te `HSCT` (whakatō wheua) me te `ERT` (whakaora whākōkī), ka taea te whakaroa ake i te roanga o te oranga.

Ka taea e ngā tamariki e pāngia ana e te momo waenga, te momo ngawari rānei o te MPS I te ora tae noa ki ō rātou tau 20 me te 30 me te rongoā. Ko te mate wawe i te nuinga o te wā ka puta mai i te ngoikore o te manawa.

Engari kia maumahara, ki te kore e tino kino te mate, ā, ka tīmata wawe te maimoatanga, tera pea ka taea e koe te noho i te oranga noa.

He rongoā tino pai mō tēnei?

Kāore anō kia kitea he rongoā mō te mate Hurler. Heoi anō, mā ngā maimoatanga o nāianei ka roa ake te ora me te whakamamae i ngā tohumate e morearea ana ki te ora.

Āhea koe me kawe i tāu pēpi ki te tākuta?

Ki te whakapae koe kei te pāngia tō pēpi e ngā tohu o te mate Hurler, ina koa kāore ia e eke ki ngā taumata whanaketanga e tumanakohia ana mō tōna tau, ki te mea rānei kei te ahua uaua ki a ia te tirohanga, te whakarongo rānei, me toro atu ki te tākuta o tō tamaiti i taua wā tonu.

Āhua ohorere! Mena kei te uaua te manawa o tāu pēpi, kei te ahua he rerekē te ngakau o tōna pēpi, kei te ngaro haere rānei tōna māramatanga i ngā wā katoa (he tohu pea ēnei o te cardiomyopathy), haria tonutia ia ki te hōhipera tata, waea atu rānei ki te 1990.

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

Ina kitea e koe kei te pāngia tāu tamaiti e tēnei mate, he mea noa te maha o ngā pātai. Pātai atu ki tō tākuta mō ngā mea pēnei i:

• He aha te rongoā pai rawa atu mō te mate o taku tamaiti hei ārai i ngā tohumate?
• He pānga taha anō kei ngā maimoatanga e taunaki ana koe?
• Kia pēhea te auau o ngā werohanga whakaora whākōkī mō taku tamaiti?

He aha te rerekētanga i waenga i te Mate Hurler me te Mate Hunter?

He "tūnga rokiroki lysosomal" ēnei e rua. Arā, ko ngā mate e kohikohi ai ngā para i roto i ngā pūtau. Heoi anō, he iti noa ngā rerekētanga i waenganui i ngā mea e rua:

• Te Mate Hurler: Koinei te momo Mucopolysaccharidosis momo I (MPS I) tino kino. I roto i tēnei, ka whakaitihia te whākōkī o te tinana e kiia nei ko te alpha-L-iduronidase.
• Te Mate Hunter: He iti ake te kino o tēnei mate i te Mate Hurler. Nō te rōpū Mucopolysaccharidosis momo II (MPS II) tēnei mate. I roto i tēnei mate, ka whakaitihia te whākōkī i roto i te tinana e kiia nei ko te iduronate-2-sulfatase (I2S).

Hei whakamutunga, ngā mea hei maumahara

He uaua pea te whakatau i te mate Hurler Syndrome mā te whānau, inā koa he maha ngā pātai e pā ana ki te oranga o te tamaiti. I tēnei wā uaua, he mea nui kia mahi tahi me ngā tākuta o tāu tamaiti, kia mōhio hoki ki te mate me ngā kōwhiringa maimoatanga. Kia maumahara hoki, ehara i te mea ko koe anake. Rapua te tautoko mai i te whānau, i ngā hoa, me ngā tohunga hauora hei whakarato whakamarie. Mā te tautuhi wawe me te maimoatanga tika ka āwhina i tāu tamaiti kia ora i te oranga pai rawa atu.

` Hurler Syndrome, mate ira, hauora o te tamaiti, ngoikore o te whākōkī, MPS 1, mate ira, mate tamarikitanga, ngoikore o te whākōkī, mate lysosomal, Hurler Syndrome, mate ira, hauora o te tamaiti, ngoikore o te whākōkī