I ētahi wā ka whakaaro koe kei te paku whakaroa te whanaketanga o tāu tamaiti? He rerekē rānei tōna āhua kanohi me tōna āhua tinana i ērā atu tamariki o tōna tau? I ētahi wā, kei muri i ēnei mea, tera pea he āhuatanga onge kāore anō kia rangona e tātou. I tēnei rā, e kōrero ana tātou mō tētahi mate kāore i te mōhiotia e te tini o te tangata, engari he mea tino nui kia mōhio tātou hei mātua. Ko te Hunter Syndrome tēnā.
He aha te Hunter Syndrome?
He tino onge te mate Hunter, he mate ira. Koinei te wā kāore e taea e te tinana o tāu tamaiti te wawahi me te nakunaku tika i ētahi ngota huka matatini. Whakaarohia he rite ki ngā hoiho mahi iti i roto i ō tātou tinana, e kiia nei e tātou he whākōkī. Ko tā rātou mahi he wawahi me te horoi i ngā mea e uru mai ana ki roto i ō tātou tinana, arā, ngā mea kāore e hiahiatia ana e tātou.
Ka whānau mai te tamaiti e pāngia ana e te mate Hunter me te iti noa o te whākōkī e hiahiatia ana hei wawahi i tētahi momo ngota huka motuhake. Nā, he aha te mea ka tupu? Ka tīmata te kohikohi haere o aua ngota huka kāore e taea te wawahi i roto i ngā whekau me ngā kiko o te tamaiti. Pērā i te para kāore e tangohia, ka kohikohi haere. I roto i te wā, ka pā kino tēnei kohikohinga ki te whanaketanga tinana me te hinengaro o te tamaiti.
E rua ngā wāhanga matua o tēnei mate e wehewehea ana e ngā tākuta:
1. Momo tohu kino: Koinei te momo tino kitea (tata ki te 60%). Ka tere te whanake o ngā tohu o ēnei tamariki, ā, ka pāngia hoki ō rātou pūkenga hinengaro. I te nuinga o te wā, i te 6-8 tau te pakeke, ka tīmata te tamaiti ki te raru i ngā mahi taketake.
2. Momo ngawari: Ka āta puta mai ngā tohu . Kāore te nuinga o te wā e tino pāngia ana te hinengaro o te tamaiti.
Nō roto tēnei mate i tētahi rōpū mate e kiia nei ko te mucopolysaccharidoses. Koia te take i huaina ai te mate Hunter ko te mucopolysaccharidosis momo II (MPS II) .
He pēhea te noa o tēnei mate? Ko wai te hunga tino tūpono ka pāngia e tēnei mate?
He mate tino onge tēnei. Heoi anō, ko ngā tama te nuinga e pāngia ana . E ai ki ngā tatauranga, tata ki te kotahi i roto i te 100,000 ki te 170,000 ngā tama i whānau mai ka kitea kua pāngia rātou e tēnei mate.
Heoi, ka taea e ngā kōtiro te kawe i te ira hapa e puta ai te mate. He māmā noa iho, e rua ngā ira X o te kōtiro, kotahi anake te ira X o te tama. Nō reira, ahakoa ka riro i te kōtiro te ira X hapa, ka taea e tana ira X hauora te hanga i te whākōkī e hiahiatia ana e ia. Engari, ki te riro i te tama te ira X hapa, kāore he kōwhiringa kē atu māna, ā, ka puta ngā tohu.
He aha ngā tohu o tēnei mate?
Ko te tikanga ka tīmata ngā tohumate ki te puta i roto i te tamaiti i waenga i te 2 me te 4 tau te pakeke. Ka rerekē pea ēnei tohumate i ia tamaiti, i ia tamaiti. He iti ake ngā tohumate o ētahi tamariki, he nui ake ia.
| Tohu | Whakaahuatanga |
|---|---|
| Āhua o te tinana | Ngā āhuatanga o te kanohi matotoru (ngā ihu matotoru, ngā ngutu, me te arero), he upoko nui ake i te toharite, he uma whānui, he kaki poto. |
| Ngā hononga me ngā wheua | Te pakari o ngā hononga o ngā peka, te uaua ki te piko. |
| Te tipu | Te puhoi o te tipu. Ka mutu, ka puhoi rānei te tipu o te teitei, inā koa i muri i te 5 tau te pakeke. |
| Whakarongo | Ka ngoikore haere te rongo. |
| Ngā whekau o roto | Te whakanui ake i te ate me te whēkau (te pupū ake o te puku). |
| Kiri me ngā niho | Te putanga mai o ngā puku mā i runga i te kiri. Te roa o te puta o ngā niho, ngā āputa nui rānei i waenganui i ngā niho. |
He aha te take i puta ai tēnei mate?
Nā te whakarerekētanga o te ira IDS tēnei i puta ai. Ko te ira IDS te kawenga mō te whakahaere i te whakaputanga o te whākōkī e kiia nei ko te iduronate 2-sulfatase (I2S), e hiahiatia ana e tō tātou tinana.
Ka wawahia e tēnei whākōkī I2S ngā ngota huka matatini e kiia nei ko ngā glycosaminoglycans (GAG). Kāore ngā tamariki e pāngia ana e te mate Hunter (MPS II) e whakaputa i tēnei whākōkī I2S, he iti noa iho rānei te rahinga e whakaputaina ana.
Nā tēnei ka kohia ngā ngota huka e kiia nei ko ngā GAG ki roto i ngā lysosomes, arā, ngā pokapū hangarua o ngā pūtau. He rite ngā lysosomes ki ngā pokapū hangarua o ngā pūtau. Ko ngā mate e puta mai ana i te kohi o ngā mea i roto i ngā lysosomes ka kiia hoki ko ngā mate rokiroki lysosomal . I roto i te wā, ka kino ēnei kohi i ngā whekau o te tinana.
He aha atu ngā raruraru ka puta mai i tēnei mate?
I runga i te kaha o te mate, ka pāngia te tamaiti e ngā raruraru maha. Ka whakamahia e ngā tākuta ngā rongoā, ā, i ētahi wā ka whakamahia e rātou he pokanga hei whakahaere i ēnei raruraru.
Ko te mea nui, ehara i te mea ka pāngia ngā tamariki katoa e ēnei raruraru katoa. Nō reira kaua e manukanuka. He mea nui kia noho tonu koe ki te tākuta me te aroturuki i tāu tamaiti.
| Ngā raruraru | Whakaahuatanga |
|---|---|
| Te uaua ki te manawa | Ka ārai pea ngā ara manawa i te matotoru o te kiko ara manawa. |
| Mate ngakau | Ka taea te pakaru o ngā takirere ngākau. |
| Ngā raruraru wheua me ngā hononga | Tērā pea ka puta he āhua rerekē o ngā wheua me ngā hononga. |
| Te mahi a te roro | I ngā āhuatanga kino o te mate, ka ngoikore pea te mahi a te roro. |
| Ētahi atu raruraru | Ka pā mai pea te mate carpal tunnel, ngā hernia, ngā haurangi, me ngā raruraru whanonga. |
Me pēhea te tautuhi i te mate?
Ka whakahaerehia e te tākuta o tāu tamaiti ētahi whakamātautau hei tautuhi i tēnei mate.
- Whakamātautau mimi: Ka tirohia tēnei mō ngā taumata tiketike rawa o ngā ngota huka (GAG) i kōrerotia e tātou i mua ake nei i roto i te mimi.
- Ngā whakamātautau toto: Mā tēnei ka taea te whakatau mēnā he iti, he ngaro rānei te mahi a te whākōkī e tika ana i roto i te toto.
- Whakamātautau ira: Ka mahia tēnei whakamātautau hei whakaū mēnā kei te kitea te whakarerekētanga ira e puta ai te mate.
Me pēhea te rongoā?
Kāore anō kia kitea he rongoā mō te mate Hunter . Heoi anō, kei reira ngā maimoatanga hei whakahaere i te ahunga whakamua o te mate, hei kimi wawe i ngā raruraru, hei whakapai ake hoki i te kounga o te oranga o te tamaiti.
Ko te rongoā pai rawa atu mō tēnei ko te Whakaora Whakakapinga Whākōkī (ERT) . Kei roto i tēnei ko te whakaputa hangai i te whākōkī e ngaro ana i roto i te tinana, ka hoatu ki te tamaiti. Ko te ingoa o tēnei rongoā ko te idursulfase (Elaprase®) . Ko te tikanga ka hoatuhia tēnei rongoā mā te uaua kotahi i te wiki.
Hei tāpiritanga, kei te whakahaerehia hoki ngā rangahau mō te rongoā ira puta noa i te ao, ā, kei te tūmanakohia ka hua ake he maimoatanga pai ake ā muri ake nei.
He aha tāu e taea te kī mō te heke mai o te tamaiti?
E mōhio ana ahau he tino uaua tēnei pātai. I ngā wā tino kino o te mate, ka poto pea te roanga o te oranga o te tamaiti. I waenganui i te 10 me te 20 tau te nuinga. Heoi, ka taea e ngā tamariki he ngawari ngā tohu te ora tae noa ki te pakeketanga.
Ko te mea nui, ka taea e te maimoatanga te āwhina i tāu tamaiti ki te whakahaere i ngā wero e pā ana ki a ia, me te whakapai ake i tōna kounga o te oranga. Nō reira, kaua e mutu te tumanako.
Ngā pātai hei pātai atu ki tō tākuta
Ki te kitea tēnei mate i roto i tāu tamaiti, he mea noa te maha o ngā pātai kei roto i tō hinengaro. Pātai atu ki tō tākuta mō ēnei mea.
- He āhua kino, he āhua ngawari rānei tēnei o te mate?
- He aha te āhua o taku tamaiti mō te wā poto me te wā roa?
- He aha te pānga o tēnei mate ki te oranga o taku tamaiti?
- He aha ngā kōwhiringa maimoatanga?
He mea noa ki te whānau te ohorere me te pouri ina rongo rātou i tētahi mate pēnei. Kia maumahara kāore koe i te mokemoke i tēnei wā. Kōrero ki tō tākuta, ki tō whānau, me ō hoa tata mō tēnei. Me mahi tahi tātou katoa ki te hoatu i te tiaki pai rawa atu ki tāu tamaiti.
Karere Tangohia ki te Kāinga
- He tino onge te mate Hunter, he mate ira tūturu, ā, ko ngā tama te nuinga e pāngia ana.
- Ka puta tēnei mate i te korenga o tētahi whākōkī motuhake i roto i te tinana, ka puta ai te kohikohinga o ētahi ngota huka i roto i te tinana, ka kino ai hoki ngā okana.
- Ko te tikanga ka tīmata ngā tohu i waenga i te 2-4 tau te pakeke. Ko ngā tohu matua ko te puhoi o te tipu, te rerekētanga o te kanohi, me te pakari o ngā hononga.
- Ahakoa kāore he rongoā katoa mō tēnei, ka taea e ngā maimoatanga pēnei i te whakaora whakakapinga whākōkī (ERT) te whakahaere i ngā tohu me te whakapai ake i te oranga o te tamaiti.
- Ki te kite koe i tētahi āhuatanga rerekē o te whanaketanga o tāu tamaiti, me toro atu ki tō tākuta tonu. He mea tino nui te tautuhi wawe mō te maimoatanga.
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