Phenylketonuria - he aha te mea reira me pehea ki te ora i ki reira

e pā ana tēnei mate i te pākia e waimaero o waikawa amino. I roto i ngā, phenylalanine. Ka rite ki te hua o ngā tauhohe disorders faafariuraa o tenei waikawa amino ki tetahi atu (tyrosine) mo te hē paru hiahiatia reira me ona hua paitini (phenyl ketone) kohikohi i roto i te tinana. E ratou he pānga kino, rawa i runga i te pūnaha io. Mooni iritihia i te Latin - "te aroaro o te phenyl ketone i roto i te mimi" - e te aha i te wā "phenylketonuria". He aha te mea tenei mate pūkoro, te reira te inaianei mārama, me te take o te raruraru e takoto i roto i te Pākatokato iranga. Kei te tuku te reira i roto i te tikanga ngoikore autosomal.

Nahea te māuiuitanga

Ki te mea he koha i roto i te ira kawenga mō te ariā o te pūmua whākōkī e hiahiatia ana te tangata, i reira he phenylketonuria. He aha e tenei toharite, kua mohio ki matou. A, no te hoatu tenei tātaritanga? Ko te mate āhua e kore e whakaatu iho tonu i muri i whanau, te mea tamariki ki te kia tino noa, whanau i wā me te whanaketanga noa. Heoi, i muri mai (i roto i te 2-6 marama) tohu puta:

• te backlog o te whanaketanga tinana, me te hinengaro;
• sweating whakapakaritia ki te aroaro o te ahua o "kiore" kakara o te tamaiti;
• kārangirangi, tearfulness;
• te momoe lethargy ranei;
• haehae
• kia ruaki ai te reira.

Ano, whakaaturia te ahua o pāpaka kiri (dermatitis, katoatia) te phenylketonuria. He aha te mea ka rite te manawanui pehea titiro reira, ko reira mārama, engari e kore e motuhake enei tohu - kia whai ōrite tohu maha mate.

Me pēhea te ki te tautuhi i te mate

Ki te whakapae te tākuta te mate i runga i nga tohu haumanu, whakaritea reira ko te nui etahi o phenylalanine i te toto.

Ano i roto i te whare hauora whakakeke mimi tauira, e taea te kupu te pāngia phenylketonuria ki 10-12 ra o tau. Na hōhipera mō te 3-4 ra i te whanautanga o tō pēpi noho etahi whakamātautau āta ki te tāutu i rerekē disorders pūkoro tinana. Ko te whakamātautau mō tenei māuiuitanga ko tetahi o ratou. Kei te maha te mate pāngia phenylketonuria, kotahi tamaiti i roto i 8,000 whanau te ki tenei raruraru. tikanga wātea o te tātaritanga me te mate ira: rapunga o irakētanga i roto i te ira hāngai.

Me pēhea te ki te whakaora i te manawanui

mahino tatou e te mate iranga mate e pā ana pērā i phenylketonuria. Eaha te auraa? E rua ara o te iwi therapy ki te hē riro o te paru: ki te kawe i te mua ki te l tinana waho i te kai mo te hua e mo te nakunaku, whakawhenumi, e rapu pākia takawaenga tenei whākōkī. I roto i te take o tenei mate te whakamahi i te putanga hōu. Tūroro tino fakangatangata horomanga o phenylalanine i kai. kia mahi rite wawe rite taea tenei ki te ārai i haurangi roro tina heke. Hoki te kai whakamahi ranunga pūmua motuhake kahore phenylalanine, ki utu mo te kore o te pūmua.

Whakawhanakehia me ngā tikanga o te maimoatanga i runga i te ara rerekē - te whakataki o te whākōkī huawhenua whakakapinga. whakamatauria hoki hou tikanga therapy ira: te whakauru i te ira whakahaere te hanga o te pūmua whākōkī e ngaro ana.