He nui rawa te haukini i roto i ō toto? Kia ako tātou mō te āhua kino o te hyperammonemia!

He tini ngā mea e puta ana i roto i ō tātou tinana, tika? I ētahi wā, ina he paku koretake ēnei tukanga, ka puta he raruraru nui. Hei tauira, ko te hyperammonemia he mate kino e puta ana ina piki ake te haukini i roto i ō tātou toto. He mea tino nui kia mōhio koe ki tēnei nā te mea ka pā nui ki tō oranga mēnā kāore e tiakina tika.

He aha te Hiperamonia?

Ki te kī māmā noa, ko te hyperammonemia te wā e tino teitei rawa ana ngā taumata haukini i roto i te toto. Ko te Ammonia, NH3 rānei, he para e puta ana i roto i ō tātou whekau ina nakunaku tātou i ngā pūmua e kainga ana e tātou. I te nuinga o te wā, ka haere tēnei haukini ki tō tātou ate, ā, ka tukatukahia ki reira. Ka kiia tēnei tukanga ko te huringa urea . Mā tēnei huringa, ka hurihia te haukini hei matū iti ake te kino e kiia nei ko te urea, ā, ka tukuna ki roto i te mimi. Heoi, ki te he tetahi mea ki tēnei huringa urea, ki te kore rānei e taea e te ate te tukatuka tika i tēnei haukini, ka tīmata te kohikohi o te haukini ki roto i te toto. He tino paitini tēnei pikinga o te haukini i roto i te toto ki tō tātou Pūnaha Io Matua (CNS) , arā, te roro me te taurakira. Koia te take he āhuatanga te hyperammonemia e hiahia ana kia arohia wawetia e te hauora, ā, ka taea hoki te whakararu i te ora .

Ko wai ka taea te whakawhanake i tēnei mea nui rawa atu?

Ka pāngia ngā pēpi hou, ngā tamariki nohinohi, me ngā pakeke e tēnei āhuatanga, e kiia nei ko te hyperammonemia.

• I roto i ngā pakeke, tata ki te 90% o te hunga e pāngia ana e tēnei mate ko te hunga he cirrhosis o te ate .
• Ka pāngia pea ngā pēpi whānau hou e tēnei mate nā te mea i whānau mai rātou me te hapa o te huringa urea (he mate huringa urea whānau) . He mate ira ēnei.
• Waihoki, ka taea e te ngoikore nui o te ate me ngā mate tuku iho o te pūnaha io te whakaputa i te nui o te ammonemia i roto i ngā tamariki nohinohi.

He uaua ki te kī tika i te auau o tēnei āhuatanga, nā te mea he maha ngā āhuatanga ka puta mai. Engari e whakatau ana ngā kairangahau ko ngā mate huringa urea, tētahi o ngā take, ka pā ki te kotahi i roto i te 250,000 pēpi i whānau ki te Hononga o Amerika, me te kotahi i roto i te 440,000 pēpi i whānau ki tāwāhi.

He aha ngā take o te hyperammonemia?

He maha ngā take mō tēnei. Ka rerekē pea ēnei take i te pakeketanga. Engari i te nuinga o te wā, ko ngā take matua e rua ko ngā raruraru ate me ngā mate huringa urea (UCD) .

Nā ngā raruraru ate

Ko tō tātou ate te okana matua e huri ana i te haukini hei urea. Nō reira, ki te pakaru, ki te mate rānei te ate, kāore e taea e ia te tukatuka tika i te haukini. Koinei te wā e nui haere ai te haukini i roto i te toto. Anei ētahi āhuatanga e pā ana ki te ate ka taea te whakaputa i te hyperammonemia:

• Mate ate : Ina pakaru te ate , ka iti tōna kaha ki te tukatuka i te haukini. He mea noa ake tēnei i roto i ngā mate ate kino, engari ahakoa i roto i te hunga he mate ate pumau, ka piki ake ngā taumata haukini i ētahi wā, hei tauira, mēnā ka puta he mea i roto i te puku, i ngā whekau rānei ( toto o te puku) mēnā rānei he kore taurite o te electrolyte . Koinei te tino take o ngā taumata haukini teitei i roto i ngā pakeke me ngā tamariki.
• Te mate ate: Ka puta tēnei ina pakaru te ate, ā, kāore e taea te tukatuka tika i te haukini. Ka kohia te haukini i roto i te toto, ka haere ki te roro. Ka taea e tēnei te whakapoauau, te kore aro , tae noa ki te koma. I ētahi wā ka mate pea.
• Te mate ate: Ko te mate ate te whakakapinga o te kiko ate hauora ki te kiko whara. Ka kore pea te ate e mahi tika, ā, ka arahi pea ki te hyperammonemia. He mate ate mau tonu te mate ate.
• Te ngoikore o te ate whakapeka: Koinei te wā ka mutu ohorere te mahi a te ate. Ka taea te puta mai i ngā momo mate me ngā āhuatanga. Hei tauira, ko te whara o te ate i puta mai i te rongoā i puta mai i ētahi rongoā, pērā i te acetaminophen , e 50% o ngā take katoa o te ngoikore o te ate whakapeka i te United States. E 64% o ngā take o te hyperammonemia i roto i ngā tamariki.
• Te hekenga o te rere o te toto ki tō ate: Ki te kore e rere tika te toto ki tō ate, kāore e taea e te tinana te tuku i te haukini ki te ate kia tukatukahia. Ahakoa i taua wā, ka nui haere te haukini i roto i te toto.
• Te mate a Reye:He tino onge tēnei mate. Ka pā ki te toto, te roro, me te ate. He maha ngā wā ka piki ake te taumata haukini i roto i te toto, ka iti hoki te taumata huka toto. Ko te nuinga o te wā ka pā ki ngā tamariki me ngā taiohi e ora ana i ngā mate huaketo pēnei i te rewharewha, te rewharewha rānei, ā, kua tango i te aspirin mō aua tohu. Kāore i te mōhiotia te tino take o te mate Reye. Heoi, nā tēnei mōrearea, kaua te aspirin e hoatu ki ngā tamariki me ngā taiohi mēnā kāore i te tūtohutia e te tākuta.

Nā ngā Mate Huringa Urea (UCD)

E ai ki tā tātou i kōrero ai i mua, ko te huringa urea te tukanga e hurihia ai te haukini paitini hei urea, ka tukuna ki roto i te mimi. He maha ngā taahiraa o tēnei huringa, ā, he momo whākōkī rerekē e hiahiatia ana mō ia huringa. Ko ēnei whākōkī ko:

• 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)

Mena he ngoikore tētahi o ēnei whākōkī, kāore te huringa urea e mahi tika. Ka nui haere te haukini i roto i te toto. Ka kiia tēnei momo ngoikore o te whākōkī he mate huringa urea (UCD). Ka taea e ngā UCD te whakaputa i te hyperammonemia, ka taea te whakapeka, te mau tonu rānei. He mate whānau ngā UCD. Ko ngā pēpi hou me te ngoikore katoa o te whākōkī huringa urea ka pāngia e te hyperammonemia whakapeka i roto i te 24 ki te 72 hāora o te whānautanga. Ahakoa he ngawari, he wāhanga rānei te ngoikore o te whākōkī, ka taea te nui haere te haukini i ngā wā katoa o te ao, i te wā e mate ana, e ahotea ana, e ētahi atu āhuatanga ahotea rānei. Ko ēnei UCD te take o te 23% o ngā take o te hyperammonemia whakapeka i roto i ngā tamariki nohinohi tino mate.

Ētahi atu take

Haunga tēnei, tera pea ētahi atu take:

• Te ngoikore o te whatukuhu (whatukuhu): Ki te kore e taea e ngā whatukuhu te tuku tika i te urea nā te ngoikore o te whatukuhu, ka kohia te haukini ki roto i te toto.
• Ētahi mate toto: Ka taea hoki te whakaputa i te hyperammonemia e ngā mate toto pēnei i te myeloma maha me te leukemia whakapeka.
• Ētahi mate urutā: ngā rauropi whakaputa urease pērā i a Proteus mirabilis , Escherichia coli (E. coli) me KlebsiellaKa taea e ngā mate kitakita pērā i te streptococci, inā koa i roto i ngā tamariki he mate mimi whānau mai, me ngā kaumātua e mau ana te mimi nā ngā mate mimi (UTI), te whakararu i te nui o te haukini i roto i te tinana.

He aha ngā tohu o te Hyperammonemia?

Ka rerekē rawa ngā tohu i runga i te ngawari, i te kino rānei o te mate, tae atu ki te tau e whanake ana.

Ngā tohu ngawari e kitea ana i roto i ngā tamariki me ngā pakeke

• Whakapairuaki me te ruaki
• Mamae puku
• Te riri pinepine
• Mamae upoko (mamae upoko)
• He uaua ki te taurite, te taunga, me te kōrero (ataxia)
• Ngā huringa whanonga

Ngā tohu māmā anō e pā ana ki ngā tamariki anake

• 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 tino mōrearea ēnei tohu. Mēnā kei a koe tētahi o ēnei, me rapu tohutohu hauora tonu koe.

• 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 hau nui)
• Koma

Whakatūpato: Mena kei a koe, kei tētahi rānei e tata ana ki a koe ēnei tohu, waea atu ki te 911 tonu, haere rānei ki te wāhanga ohorere o te hōhipera tata ki a koe. He mea mōrearea te nui o te haukini i roto i te toto, ā, me tere tonu te aro atu ki te hauora!

Ngā tohu i roto i ngā pēpi whānau hou

Mena ka pāngia te pēpi hou e te hyperammonemia, ka puta ngā tohu e whai ake nei i roto i ngā haora 24 ki te 72 i muri i te whānautanga:

• Te riri pinepine, te tangi pinepine
• Ruaki
• Ngāwari
• Ngā mate hopuhopu
• Te ngunguru i te wā e manawa ana
• Te manawa tere (Te hau nui)

He mea nui: Ki te whakaatu tō pēpi i ēnei tohu, waea atu ki te tākuta tonu mēnā kei te hōhipera tonu koe. Ki te mea kei te kāinga koe, waea atu ki te 911 tonu, kawe rānei i a ia ki te hōhipera tata. Ehara tēnei i te mea hei whakaroa.

Me pēhea te tautuhi a ngā tākuta i tēnei?

Ko te tikanga, ka whakapae ngā tākuta he nui te haukini i roto i te toto mā te whakamātautau i ngā taumata haukini.

• Mō ngā pēpi tae atu ki te kotahi marama te pakeke, mēnā he nui ake te taumata haukini i roto i te toto i te 80 micromol/rita (80 micromol/L).
• Mō ngā tamariki pakeke ake, mēnā he nui ake i te 55 micromol/rita (55 micromol/L).
• Mō ngā pakeke, mēnā he nui ake i te 30 micromol/rita (30 micromol/L).

Ko tēnei waeine ine (micromol/L) he huarahi hei ine i te nui o te haukini i roto i te toto.

He aha ngā whakamātautau e mahia ana hei kite i tēnei?

Ko te whakamātautau matua he whakamātautau toto e ine ana i te taumata o te haukini i roto i ō toto. Mena he teitei tō taumata haukini, ka mahi pea tō tākuta i ētahi atu whakamātautau hei kimi i te take. Hei tauira, he whakamātautau toto hei tirotiro i te mahi a tō ate me te mahi a tō whatukuhu , me te tātaritanga mimi . Nā te mea ka taea e te hyperammonemia te kino i te pūnaha io matua, ā, ka morearea hoki te ora, ka mahi pea tō tākuta i ngā whakamātautau whakaahua, pērā i te matawai CT (computed tomography) te matawai MRI rānei, hei tirotiro i ngā raruraru e pā ana ki te roro.

He aha ngā maimoatanga mō te hyperammonemia?

Ko te maimoatanga e whakawhirinaki ana ki te take. Hei tauira, i roto i te pakeke, nā te mate ate, nā te encephalopathy hepatic rānei, i roto rānei i te pēpi hou, nā te mate huringa urea (UCD). I roto i te hyperammonemia whakapeka, ko te whāinga matua ko te whakaiti i te taumata o te haukini i roto i te toto me te whakahaere i ngā raruraru motuhake pērā i te edema roro me te pikinga o te pēhanga huri noa i te roro (te toto toto tiketike intracranial).

• Mena he nui te haukini o te pēpi hou, ka mutu te hoatu e ngā tākuta he pūmua ki a rātou (nā te mea ka puta te haukini i te wā e nakunakuhia ai te pūmua) ka hoatu kē he hukahuka, he otinga huka, hei whakarato i ngā kaora. Ka whakamahia hoki e rātou he tikanga e kiia nei ko te hemodialysis . Kei roto i tēnei ko te horoi i te toto o te pēpi me te tango i te haukini mā te mīhini dialysis me te tātari motuhake (pēnei i te whatukuhu horihori).
• Ko te hunga he ngoikore te whākōkī huringa urea wāhanga (UCD) e pāngia ana e te hyperammonemia nā te ahotea, pērā i te hyperammonemia i puta mai i te ahotea, ka hoatu hoki he tango pūmua me te hukahuka hei kaora. Ka mahia noa te hemodialysis mēnā kāore ō rātou taumata haukini e heke i roto i ētahi haora o te maimoatanga tuatahi.
• Ko te rongoā mō te mate pukupuku ate he whakaiti i te hanga o te haukini i roto i ngā whekau. Ko te rongoā tuatahi ko ngā rongoā ā-waha kei roto ko te lactulose me te lactitol . Ka whakaitihia e ēnei huka te hanga me te mimiti o te haukini i roto i ngā whekau.

Ka tūtohu pea ngā tākuta i ngā tāpiringa kai pēnei i ēnei hei āwhina i te hunga whai mate huringa urea ki te whakaiti i te auau o ā rātou tohu:

• L-carnitine
• L-ornithine-L-aspartate
• Ākinini

He huarahi hei karo i tēnei āhuatanga?

Nā te mea he maha ngā take o te hyperammonemia, kāore e taea te ārai i ngā āhuatanga katoa. Heoi, ka taea e koe te mahi i ngā mahi hei ārai i ētahi momo mate ate, inā koa ko ērā e pā ana ki tō kai me tō momo noho. Mena kei te mōrearea koe ki te mate ate, ka tūtohu pea tō tākuta kia mahia ēnei huringa momo noho:

• He pai te karo, te whakawhāiti rānei i te inu waipiro.
• Āta karohia ngā kai me ngā inu kei roto ngā ngako whakawhiti, ngā tīrapa kānga fructose-nui rānei.
• Hei karo i te kino o te ate, kia tino tupato i te wa e whakamahi ana i nga rongoā kua tohua e te taote me nga rongoā ka hokona kore-tohutohu.
• Te whakakorikori tinana i ngā wā katoa .
• Te whakawhāiti i te kai mīti whero.

Hei ārai i te mate Reye, he mate e hua ai te hyperammonemia i roto i ngā tamariki me ngā taiohi, kaua e hoatu te aspirin ki ngā tamariki mō ngā tohu o te mate huaketo (pērā i te rewharewha, te rewharewha rānei) ki te kore e tūtohutia e te tākuta. He onge ngā hapa huringa urea (UCD), engari he whakamātautau ira hei tirotiro mēnā kei a koe ngā ira e hua ai aua tohu. Kōrero ki tō tākuta mō tēnei.

He aha te matapae mō tēnei āhuatanga?

Ko te tirohanga mō te hyperammonemia, arā, te kaha ki te ora, e whakawhirinaki ana ki ētahi āhuatanga:

• Te teitei o ō taumata haukini.
• Kia pēhea te roa o te pikinga o te taumata haukini.
• He aha te take o te hyperammonemia?

I te nuinga o te wā, he kino te tirohanga mō te hyperammonemia. Mēnā ka kore e rongoatia, ka roa rānei te wā e rongoatia ai, ka pā te pupuhi roro kore e taea te whakatika ki te nui o te mate. Engari, ahakoa te tere, te kaha rānei o te rongoā i te hyperammonemia kino ki tētahi pēpi hou, kāore he taurangi ka pai te putanga. I te Hononga o Amerika, ko te reiti oranga 11-tau mō te hunga he hapa huringa urea (UCD) e pāngia ana e te hyperammonemia i te tīmatanga o te oranga he tata ki te 35%. Mō te hunga e pāngia ana e te hyperammonemia i muri mai i te oranga, ko te reiti oranga he tata ki te 87%. Ko ngā reiti oranga kotahi-tau me te toru-tau o ngā tūroro he mate ate nui nā te hyperammonemia kua pūrongohia 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, ā, ka arahi atu ki ngā raruraru morearea. Ko ēnei raruraru ko:

• Pupuhi roro
• Te pikinga o te pēhanga huri noa i te roro (te toto toto tiketike o roto o te angaanga)
• Te hernia o te roro – Ko te nuinga o te wā ka puta mai tēnei i te pupuhi o te roro me te pikinga o te pēhanga huri noa i te roro.
• Koma
• Mate

Mena he roa te wā e pāngia ana te tangata e te hyperammonemia ngawari mau tonu, ka pāngia pea ia e te hauātanga hinengaro me ngā raruraru whanonga me ngā raruraru hinengaro tuturu.

Āhea tātou me toro atu ki te tākuta?

Mena kei a koe, kei tētahi rānei e arohaina ana e koe, ngā tohu o te hyperammonemia, waea atu ki te 911 tonu, haere rānei ki te hōhipera tata. Ehara tēnei i te mea hei whakaroa. Mena he mate ate tōu, he ngoikore rānei te whākōkī huringa urea wāhanga, he mea tino nui kia kite tonu koe i tō tākuta hei whakahaere i tō āhua me te aroturuki i ō taumata haukini.

He mate kino te hyperammonemia, ka puta mai i ētahi āhuatanga. Mena kei a koe, kei tāu tamaiti, kei tāu pēpi rānei ēnei tohu, rapua tonutia he āwhina. Mena he mate ate tōu, he mate huringa urea rānei (UCD) kei tētahi o tō whānau, kōrero ki tō tākuta mō tō tūponotanga ki te whakawhanake i te hyperammonemia. Kei reira rātou hei āwhina i a koe.

Hei whakamutunga, kia mahara ki tēnei.

Āe, anei ētahi o ngā mea tino nui hei maumahara māu mai i ngā mea kua kōrerohia e tātou:

• Ko te hyperammonemia he taumata haukini tino teitei i roto i te toto. He tino kino tēnei ki tō tātou roro me te pūnaha io.
• He maha ngā take mō tēnei. Ko ngā raruraru ate me ngā mate huringa urea (UCD) ngā tino take.
• Ka rerekē ngā tohu i runga i te kaha o te mate me te tau. Ka rerekē pea mai i ngā tohu ngawari pēnei i te whakapairuaki, te ruaki, me te ānini ki ngā tohu kino ake pēnei i te pōhēhē, te haurangi, me te koma. Me tino āwangawanga hoki ngā pēpi hou mō ō rātou tohu.
• Mena he nui ngā tohumate e pā mai ana ki a koe, me rapu tohutohu hauora tonu. Tērā pea ka noho hei āhuatanga ora, mate rānei.
• Ka whakawhirinaki te maimoatanga ki te take. Ka taea e te maimoatanga tere te whakaiti i ngā taumata haukini me te whakahaere i ngā raruraru.
• Ahakoa kāore e taea te ārai i ētahi take, ka taea te whakaiti i ētahi mōrearea mā te pupuri i tētahi momo noho hauora me te tiaki i tō ate .
• Ahakoa he mate ate tōu, he mate UCD rānei tō tētahi o tō whānau, he mea nui kia tirotirohia tō hauora i ia wā.

Kaua e wareware, ko koe te mea tino mōhio ki tō hauora. Ki te pāngia koe e tētahi mea rerekē, kāore rānei i te tino pai, kaua e wehi ki te kōrero ki te tākuta. Te nui o te haukini, te haukini, te ate, te huringa urea, te roro, ngā tohu, te maimoatanga