Menkes syndrome: whakaahuatanga me te tātaritanga

Menkes syndrome, Kei te hoki i huaina nei te mate makawe mingimingi - he onge, me te tino nui te mate ira. pānga te reira i te mau tamaroa taitamariki, me, kāore, e kore e taea te tukinotia.

Ko te take o te mate

Menkes syndrome Ko te hua o ta'etotonu ira mahi ATR7A. Ka rite ki te hua o te tinana Pākatokato kore e mimiti parahi, whakatakotoria nei i roto i nga whatukuhu, me kei te tahi atu tinana katoa nui ahotea wai, pangia whakangaromanga tere. Tuatahi o te katoa, mamae i ngakau, roro, wheua, pera, me te huruhuru. riro te mate te ka ko te tino onge. Ko te mōrea Ko e pā ana ki te 1 i roto i 50-100 miriona me te wehea te nuinga i roto i nga tangata. I roto i te tamariki wahine syndrome ngā kore e puta.

Ko te tohu tuatahi o Menkes syndrome

He tamaiti whanau ki tenei mate, titiro reira me whakatoatoa tino noa i roto i te wiki tuatahi o te ora. Ko reira anake te tuatoru o nga tohu puta marama, tohu e whakawhanake te tamaiti Menkes syndrome:

• Kua hinga iho te tamaiti iti huruhuru mingimingi i runga i te wahi. He tino onge, me te kanapa ratou. I te tirohanga piri ko reira kitea ai te makawe he tino pakarukaru a tu'ati. titiro ratou puputu'u. Tu'ati rite makawe me tukemata.
• Ko te kiri he he ataahua te ngau ke.
• Baby kanohi tino whai kiko.
• Ko flat Bridge o te ihu.
• pāmahana faatopahia te.
• Whangaia riro raruraru te tamaiti. Ko tata oranga hiahia. I tua atu, i reira he rerekētanga i roto i te mau peu whēkau.
• Kid hāngū, hiamoe, me te puhoi, whakaatu i tona mata tata e kore kare. He nga tohu katoa o te tau'a.
• maha Baby nei ia cramps.
• Tamaiti tino ngoikore katoa i muri ratou hoa, me te kore mahi ara e kua nei kua whakahaere ki te ako.

tātaritanga o te syndrome

Me kï reira e he uaua ki te tātari maha mate onge. Ko tētahi take mō tenei - mōhiotanga rawakore o tākuta o ngā tamariki. I roto i te take o Menkes syndrome tākuta tamariki e taea mōhio he momo rerekē o te makawe koati. Te heheu mai tohu he cramps, e wā puta i roto i te tamaiti.

E rave rahi o te tohu i runga ake puta i roto i te tahi atu, mate tawhiti iti mōrearea. e kore te mea e tika ana reira, ki te kitea ratou i roto i te mataku o tou tamaiti. Ko te mea e tika ana ki te titiro i te reira. Ko te momo matua o te tātaritanga Menkes syndrome ko te whakamātautau toto mo taumata o te aroaro i roto i taua mea o te parahi, me te X-hihi o wheua, e taea te whakaatu o ratou huringa āhuatanga.

ārai mate

Kia aroha mai, e kore kua te ārai syndrome tikanga Menkes rongoā ano whakaaro. I mōrea - pēpi tane nei i i whanaunga ki te mate. Te whakatau i te mate i te wā wawe o te whanaketanga kukune, me te ake ko reira tata e taea ana ki te ārai i. O te akoranga, etahi wahine e tono ia ratou i te pātai o mehemea e taea ki te whakamahere hapūtanga ki Menkes syndrome i te hapu o tana tane? Ko te whakahoki ki tenei e taea te hoatu anake geneticist pai, ko wai e tātari te pai me ngā raruraru, ka tātari, te utu i te "rakau ira" a ka noa kauwhau i te tohu o te tūpono. he mea tika ki te tango i te whakatau i runga i te uri whakamahere i muri anake kōrero ki ngā tohunga.

Treatment mate makawe mingimingi

Kia aroha mai, Menkes syndrome ko te mate e mahu. Matapae i reira rawa pakeke. kauneke te mate tere, meinga huringa tina heke i roto i te tinana. I tua atu ki te retardation hinengaro, e te tahi tata tonu i te syndrome, inhibits te whanaketanga o te pūnaha io, mahi waimaero ngakau, huringa hanganga wheua.

Life ki Menkes syndrome he poto. mate te nuinga o ngā tamariki i muri i rua ki te toru tau i muri i whanau. E mea pinepine tupu te reira ohorere - i runga i te papamuri o te pūmautanga whānui - o kakā, mate whaturama o oko toto ranei.

Ahakoa maimoatanga rite taua rongoā kahore e mohio, i reira he tikanga ki te whakahaere i te huru o te manawanui. Ko te supply haavare o parahi te tinana, e whakahaerea nei e pâmuhia tenei. Ko te ahua tenei therapy faataupupû i te whanaketanga o te mate, me te wahi faaore te tohu. Ko raro anake ki te tīmatanga wā o ia - ara, i te ra tuatahi ranei i te nuinga o te ora wiki (tae noa ko reira huringa tina heke i roto i te roro). E, aue, he tata e taea - i roto i te meka puta pikitia symptomatic marama anake ki toru. I roto i te tahi atu te wā, ka taea e ngā tākuta whakahere therapy tautoko anake.

Tino uaua, engari tupu te reira e puta Menkes syndrome i roto i te puka ngawari. ka karanga tenei ahua o te mate ko te syndrome haona kōpako me te āhuatanga e te whakangaromanga o te kiko tūhonohono. e kore e Tūroro ki tenei tātaritanga ërä i muri i roto i te whanaketanga hinengaro, engari ko te tangi te tonu te hua mutunga. tīmata te mate anake ki te whakawhanake nui i muri: huri noa te tau o tekau.