Kei te mahi tonu ō tātou tinana i muri i ngā mahi, kāore? I ētahi wā, ina whakararuraruhia ēnei tukanga koiora uaua, ka arahi pea ki ngā raruraru hauora nui. Ko tētahi o ngā āhuatanga tino kino ko te Hyperammonemia , ka puta mai ina kohia he hua paitini e kiia nei ko te ammonia i roto i ō toto. Nā te mea ka taea e tēnei āhuatanga te noho hei mate morearea ki te kore e whakahaerea wawetia, he mea nui kia noho mōhio tonu koe ki tēnei āhuatanga.
He aha te Hiperamonia?
Ki te whakarapopoto, ko te hyperammonemia te pikinga morearea o ngā taumata haukini (NH3) i roto i ō toto. Ko te haukini he hua taha e hangaia ana i roto i ō whekau ina nakunaku e tō tinana ngā pūmua e kainga ana e koe. I te nuinga o te wā, ka tukatukahia e tō ate tēnei haukini mā roto i tētahi raupapa e kiia nei ko te Huringa Urea . Ka hurihia e tēnei huringa te haukini hei urea, he matū iti ake te kino ka tukuna haumaru mai i tō tinana i roto i tō mimi.
Heoi, ki te mea he raruraru kei roto i tēnei huringa urea, ki te kore rānei e taea e tō ate te tukatuka tika i te haukini, ka tīmata te kohikohi i roto i ō toto. He tino paitini te nui o te haukini i roto i te toto ki tō Pūnaha Io Matua (CNS) — tō roro me tō taurakira. Koia te take he āhuatanga ohorere hauora te hyperammonemia e hiahia ana kia wawaotia tonutia , ā, ka tūpono pea ki te ora.
Ko wai te mea tino mōrearea?
Ka pā te hyperammonemia ki te katoa, mai i ngā pēpi hou me ngā tamariki tae atu ki ngā pakeke.
- I roto i ngā pakeke, tata ki te 90% o ngā keehi e pā ana ki te cirrhosis o te ate .
- I roto i ngā pēpi hou, ka puta pea i te mate huringa urea whānau , arā, he āhuatanga ira tuku iho.
- I roto i ngā tamariki nohinohi, ka puta pea tēnei āhuatanga nā te ngoikore nui o te ate , nā ētahi atu mate pāwera tuku iho rānei.
Ahakoa he uaua ki te tohu i te auau tika nā te maha o ngā take, e kī ana ngā rangahau ko te mate huringa urea (UCD) te mate matua e pā ana ki te 1 i roto i te 250,000 whānautanga i te United States, me te 1 i roto i te 440,000 whānautanga puta noa i te ao.
He aha te take o te Hyperammonemia?
He maha ngā take, ka rerekē pea i runga i te tau. Heoi, i te nuinga o te wā, ko ngā wāhanga matua e rua ko te ngoikore o te ate me ngā Mate Huringa Urea (UCD) .
Ngā Take e Pā Ana ki te Ate
Ko tō ate te okana matua e huri ana i te haukini hei urea. Mēnā kua pakaru, kua mate rānei tō ate, ka ngaro tōna kaha ki te tukatuka pai i te haukini, ā, ka nui haere i roto i tō toto.
Ko ngā āhuatanga ka arahi pea ki te hyperammonemia ko:
- Mate ate : Ina pakaru tō ate , ka ngoikore tōna kaha ki te tukatuka haukini. Ahakoa he mea noa ake i roto i ngā mate kino, ahakoa ko te hunga he mate ate pumau, ka pāngia pea e ngā pikinga ohorere o te haukini nā ngā āhuatanga pēnei i te toto puku, te kore taurite o te electrolyte rānei (hei tauira, e pā ana ki ngā taumata tote ). Ko te mate ate tonu te tino take o te pikinga o te haukini i roto i ngā tamariki me ngā pakeke.
- Te mate pukupuku ate: Ka puta tēnei ina ka kohia te haukini e te kino o te ate, ka tae ki te roro, ka puta ngā tohu pēnei i te pōhēhē, te kore aro , tae noa ki te koma. Ka mate pea tēnei mēnā kāore e rongoatia.
- Te mate ate cirrhosis:Ko te mate ate cirrhosis te whakakapinga o te kiko ate hauora ki te kiko koha, ka tino whakararu i te mahi a te ate, ā, ka arahi pea ki te hyperammonemia.
- Te ngoikore o te ate whakapeka: He ngaronga ohorere tēnei o te mahi a te ate. Hei tauira, ko te whara o te ate i puta mai i te rongoā, pērā i te nui rawa o te acetaminophen , te take o te 50% o ngā take ngoikore o te ate whakapeka i te US. I roto i ngā tamariki, 64% o ngā take hyperammonemia e hono ana ki te ngoikore o te ate whakapeka.
- Te hekenga o te rere o te toto ki tō ate: Ki te kore te ate e whiwhi i te rere toto e tika ana, e kore e taea e ia te tātari me te tukatuka i te haukini, ka hua ake te hanga pūnaha.
- Te mate a Reye: He mate onge, he mate kino tēnei e pupuhi ai te ate me te roro. He maha ngā wā ka nui ake te haukini me te iti o te huka toto. Ka kitea nuitia i roto i ngā tamariki me ngā taiohi e ora ana i ngā mate huaketo pēnei i te rewharewha, te rewharewha rānei, inā koa kua whakamahia te aspirin . Nā te mea he mōrearea tēnei, kaua rawa e hoatu te aspirin ki ngā tamariki, ki ngā taiohi rānei ki te kore e tohua e te tākuta.
Ngā Mate Huringa Urea (UCD)
E ai ki te kōrero, ko te huringa urea te tukanga huri i te haukini paitini ki te urea. He maha ngā mahi o tēnei tukanga, e hiahiatia ana he whākōkī motuhake mō ia mahi, tae atu ki:
- N-acetyl-glutamate synthase (NAGS)
- Carbamoyl phosphate synthetase (CPS)
- Ornithine transcarbamylase (OTC)
- Te hangahanga o te Argininosuccinate synthetase (AS)
- Te waikawa argininosuccinic lyase (ASL)
- Ākinase (ARG1)
Ki te kore e whai kiko tētahi o ēnei whākōkī, ka kore te huringa, ā, ka kohia te haukini. Ka taea e ēnei āhuatanga ira, e mōhiotia ana ko ngā UCD, te whakaputa i te hyperammonemia whakapeka me te mau tonu.
Kei te kitea ngā UCD mai i te whānautanga. Ko ngā pēpi hou he ngoikore katoa ngā whākōkī ka pāngia e te hyperammonemia whakapeka i roto i ngā haora 24 ki te 72 i muri i te whānautanga. Mena he hapa noa, he ngawari rānei te ngoikore, ka pā mai pea ngā tohu i muri mai i te oranga nā te mate, te ahotea rānei. Ko ngā UCD te take o te 23% o ngā take hyperammonemia whakapeka i roto i ngā tamariki tino mate.
Ētahi atu Take
Haunga ngā āhuatanga kua whakahuatia i runga ake nei, tera atu anō ētahi atu take pea:
- Te ngoikore o te whatukuhu: Ina ngoikore ō whatukuhu, kāore e taea e rātou te tātari tika i te urea mai i tō tinana. Ka puta te haukini i roto i ō toto.
- Ko ētahi mate toto: Ka taea hoki e ngā āhuatanga pēnei i te myeloma maha me te leukemia whakapeka te whakaoho i te hyperammonemia.
- Ētahi mate urutā: Ko ngā mate urutā i puta mai i ngā rauropi whakaputa urease—pērā i a Proteus mirabilis , Escherichia coli (E. coli) , me Klebsiella —ka arahi pea ki te hyperammonemia kino. He mea tino noa tēnei i roto i ngā tamariki i whānau mai me ngā hapa o te ara mimi, i ngā kaumātua rānei e pāngia ana e te pupuri mimi nā te UTI.
He aha ngā tohu o te Hyperammonemia?
Ka rerekē pea ngā tohu i runga i tō tau me te kaha o tō mate.
Ngā tohu ngawari noa i roto i ngā tamariki me ngā pakeke
- Whakapairuaki me te ruaki
- Mamae puku
- Te riri
- Ānini
- He uaua ki te taurite, te taunga, te kōrero rānei (ataxia)
- Ngā huringa whanonga
Ngā tohu ngawari tāpiri e pā ana ki ngā tamariki
- Te korenga e tupu
- Te ngoikore o te uaua (hypotonia)
- Ngā whakaroa whanaketanga roro
Ngā tohu kino i roto i ngā tamariki me ngā pakeke
He tohu whakatūpato nui ēnei. Mēnā ka pāngia koe e tētahi o ēnei, rapua tonutia he awhina hauora.
- Te pōhēhē me te kore aro
- Ngā huringa wairua
- Te hiamoe nui rawa
- Ngā huringa o te hinengaro
- Ngā mate hopuhopu
- Te manawa tere (te manawa nui)
- Koma
Whakatūpato: Mena kei te pāngia koe, tō whanaunga rānei e ēnei tohu, waea atu ki te 911 tonu atu, haere rānei ki te tari whawhati tata o te hōhipera. He mea mōrearea te nui o te haukini i roto i te toto, ā, me tere te wawaotanga hauora.
Ngā tohu i roto i ngā pēpi hou
I roto i ngā pēpi hou, ka puta te hyperammonemia i waenga i te 24 me te 72 hāora i muri i te whānautanga:
- Te riri me te tangi nui
- Ruaki
- Ngāwari
- Ngā mate hopuhopu
- Te ngunguru i te wā e manawa ana
- Te manawa nui
He mea nui: Ki te whakaatu tō pēpi i ēnei tohu i a koe e noho ana i te hōhipera, whakamōhio atu ki tō tākuta tonu. Ki te mea kei te kāinga koe, waea atu ki te 911, haere rānei ki te rūma whawhati tata tonu. Kaua e whakaroa ki te rapu tiaki.
Me pēhea te tātaritanga a te tīma hauora o Nirogi Lanka i tēnei?
Mā te tirotiro i ngā taumata haukini i roto i tō toto, ka whakapae ngā tākuta kei te pāngia koe e te haukini nui.
- Mō ngā pēpi tae atu ki te kotahi marama te pakeke: He mea āwangawanga ngā taumata e neke atu ana i te 80 micromol/L.
- Mō ngā tamariki pakeke ake: He mea āwangawanga ngā taumata neke atu i te 55 micromol/L.
- Mō ngā pakeke: He mea āwangawanga ngā taumata neke atu i te 30 micromol/L.
Ko te Micromol/L te waeine paerewa e whakamahia ana hei ine i te nui o te haukini i roto i tō toto.
Ngā whakamātautau tātaritanga
Ko te taputapu matua mō te tātaritanga he whakamātautau toto hei ine i ngā taumata haukini.
Mena ka whakaūtia ngā taumata tiketike, ka tonoa pea e tō tākuta ētahi atu whakamātautau hei tautuhi i te take matua, pērā i ngā whakamātautau mahi ate , ngā whakamātautau mahi tākihi , te tātaritanga mimi rānei.
Nā te mea ka taea e te hyperammonemia te kino i te pūnaha io matua, ā, ka tū hei mōrearea ki te ora, ka tūtohu pea tō tākuta i ngā whakamātautau whakaahua pēnei i te matawai CT (computered tomography) me te MRI (magnetic resonance imaging) hei tirotiro i ngā raruraru neurological.
He aha ngā maimoatanga mō te Hyperammonemia?
Ko te maimoatanga e whakawhirinaki ana ki te tino take o te mate—ahakoa he mate pukupuku ate i roto i te pakeke e mate ana i te ate, he mate huringa urea (UCD) rānei i roto i te pēpi hou.
Mēnā he nui rawa te haukini i roto i te toto, ko te whāinga he whakaheke tere i ngā taumata haukini i roto i te toto, me te whakahaere i ngā raruraru pērā i te pupuhi roro (te pupuhi o te roro) me te toto toto tiketike i roto i te angaanga.
- Mō ngā pēpi hou, ka mutu te kai pūmua (nā te mea ka puta he haukini i te nakunaku pūmua) ka whakaratohia he kaora mā roto i ngā otinga huka. Ka taea te whakamahi i te hemodialysis hei horoi i te toto mā te whakamahi i tētahi mīhini me te tātari motuhake (e mahi ana hei whatukuhu horihori).
- Mō te hunga he ngoikore wāhanga o te whākōkī UCD i puta mai i te ahotea, ka whakawhāitihia te kai pūmua, engari ka tautokona te kaha o te hukahuka. Ka rāhuitia te hemodialysis mō ngā take ka kore e taea e te maimoatanga tuatahi te whakaheke i ngā taumata haukini i roto i ētahi haora.
- Hei rongoā i te mate pukupuku ate, ko te arotahi ko te whakaiti i te hanga haukini i roto i ngā whekau. Ko ngā maimoatanga tuatahi ko ngā rongoā ā-waha kei roto ko te lactulose, te lactitol rānei , hei āwhina i te tinana ki te aukati i te mimiti o te haukini.
Mō te hunga e pāngia ana e ngā mate huringa urea mau tonu, ka tohua pea e ngā tākuta ētahi tāpiringa kai motuhake hei ārai i te hokinga mai, tae atu ki:
- L-carnitine
- L-ornithine-L-aspartate
- Ākinini
Ka taea te ārai i tēnei āhuatanga?
Nā te mea he maha ngā take o te hyperammonemia, kāore e taea te ārai i ngā wā katoa. Heoi, ka taea e koe te mahi i ngā mahi hei tiaki i tō ate me tō hauora whānui:
- Āta karohia, whakawhāitihia rānei te inu waipiro.
- Whakaitihia te kai i ngā ngako whakawhiti me te tirikara kānga fructose-nui.
- Kia tūpato ki ngā rongoā kua tohua e te tākuta me ngā rongoā kāore i te tūtohutia kia kore ai e pāngia te ate.
- Kia mau ki tētahi mahinga whakakori tinana ōrite.
- Whakawhāitihia te kai mīti whero.
Hei āwhina i te ārai i te mate a Reye i roto i ngā tamariki me ngā taiohi—he āhuatanga ka arahi pea ki te hyperammonemia— kaua rawa e hoatu he aspirin mō ngā tohumate huaketo (pēnei i te kirika, te rewharewha rānei) ki te kore e tohua e te tākuta.
He onge ngā Mate Huringa Urea (UCD), engari kei te wātea ngā whakamātautau ira hei whakatau mēnā kei a koe ngā ira e pā ana ki ēnei āhuatanga. Tena koa kōrero ki tō tākuta kia matapakihia ai mēnā he tika tēnei tirotiro māu.
He aha te matapae mō tēnei āhuatanga?
Ko te matapae mō te hyperammonemia—ko tō tirohanga rānei mō te whakaoranga—e whakawhirinaki ana ki ētahi āhuatanga nui:
- Te kaha o te pikinga o tō haukini.
- Te roanga o te wā e teitei tonu ana ō taumata haukini.
- Ko te tino take hauora o te hyperammonemia.
I te nuinga o te wā, ka taea te tiaki i te matapae mō te hyperammonemia. Mēnā ka whakaroahia, ka kore rānei e tukuna te maimoatanga, ka nui te mate ka puta mai i te pupuhi roro e kore e taea te whakatika. Engari, mō ngā pēpi hou e pāngia ana e te hyperammonemia kino, ahakoa te wawaotanga kaha me te tere tonu, kāore e taea te kī he hua pai i ngā wā katoa.
I te Hononga o Amerika, ko te ōrau oranga mō ngā tūroro UCD e pāngia ana e te hyperammonemia i te tīmatanga o te oranga he tata ki te 35% te ōrau. Mō te hunga e pāngia ana e te hyperammonemia i muri mai i te oranga, ka piki ake tēnei tūponotanga oranga ki te tata ki te 87%.
Mō te hunga kua pāngia e te mate pukupuku ate kino nā te nui o te ammonemia, kua pūrongohia ko te reiti oranga i te tau kotahi me te toru he 42% me te 23%, ia.
He aha ngā raruraru ka pā mai i te hyperammonemia?
Ki te kore tēnei āhuatanga e rongoatia wawetia, ka taea e ngā taumata haukini teitei te kino i te pūnaha io matua, ka arahi atu ki ngā raruraru morearea, tae atu ki:
- Pupuhi roro (pukupuku roro)
- Te toto toto tiketike o roto o te angaanga (te pikinga o te pēhanga i roto i te angaanga)
- Te hernia o te roro – he hua pinepine tēnei o te pupuhi nui o te roro me te pikinga o te pēhanga.
- Koma
- Mate
Mena ka pāngia koe e te hyperammonemia ngawari mau tonu, ka tūpono pea koe ki te pāngia e ngā hauātanga hinengaro mō te wā roa me ngā wero whanonga, hinengaro rānei e mau tonu ana.
Āhea koe me toro atu ki te tākuta?
Mena kei a koe, kei tētahi rānei o tō whānau ngā tohu o te hyperammonemia, waea atu ki te 911, haere rānei ki te tari urupare tata tonu. Kaua e whakaroa ki te rapu awhina.
Mena he mate ate tōu, he ngoikore rānei te wāhanga o ngā whākōkī huringa urea, he mea nui kia tirotirohia tonutia koe e tō tākuta hei whakahaere i tō āhua me te aroturuki i ō taumata haukini.
He mate kino te hyperammonemia, he maha ngā take e pā ana ki a koe. Mēnā kei a koe, kei tāu tamaiti, kei tētahi pēpi rānei ngā tohu, rapua tonutia he awhina hauora. Mēnā he mate ate tōu, he hītori whānau rānei o te UCD, kōrerohia ō āhuatanga mōrearea whaiaro ki tō tākuta. Kei konei a Nirogi Lanka hei tautoko i a koe i roto i tō haerenga hauora.
Ngā whakaaro whakamutunga hei maumahara
Hei whakarāpopototanga, koinei ngā mea tino nui hei maumahara:
- Ka puta te hyperammonemia ina piki ake ngā taumata haukini i roto i te toto ki ngā taumata morearea, he tino paitini ki tō roro me te pūnaha io.
- He maha ngā tino take o tēnei mate, ko te ngoikore o te ate me ngā Mate Huringa Urea (UCD) ngā tino take.
- Ka rerekē ngā tohu i runga i te tau me te kaha, mai i ngā raruraru ngawari pēnei i te whakapairuaki, te ruaki, me te ānini ki ngā āhuatanga kino pēnei i te pōhēhē, te haurangi, me te koma. Kia tūpato tonu ki ngā tohu i roto i ngā pēpi hou.
- Ki te puta ngā tohu kino, rapua tonutia he awhina hauora. Tērā pea ka noho hei āhuatanga ora, mate rānei.
- Ka whakaritea te maimoatanga kia rite ki te pūtake o te mate. Ko te wawaotanga tere ka arotahi ki te whakaheke i ngā taumata haukini me te whakahaere i ngā raruraru.
- Ahakoa kāore e taea te ārai i ētahi take, mā te pupuri i te oranga hauora me te aroturuki i te hauora o tō ate ka āwhina i te whakaiti i ētahi mōrearea.
- Mena kei te pāngia koe e te mate ate, kei a koe rānei te hītori whānau o te mate UCD, he mea nui kia tirotirohia tō hauora i ia wā.
Kia maumahara, ko koe te mea tino mōhio ki tō hauora. Mēnā ka kite koe i ētahi huringa, i ētahi tohu rānei, kaua e mangere ki te toro atu ki te tākuta. Kei konei mātou hei āwhina.
Te nui o te haukini, te haukini, te ate, te huringa urea, te roro, ngā tohu, te maimoatanga
