Maple manyuchi weti chirwere: isingawanzowanikwi chirwere inotungamirira zvakakomba chetsinga zvirwere

Chirwere Maple manyuchi - chinhu majini chirwere icho chokuita metabolic kusagadzikana amino acids akadai leucine, isoleucine uye valine. wevasungwa avo zvinwiwa muviri womunhu kuwedzera, kuchikonzera chepfu, ketoacidosis, nokugwinha uye kunyange pakoma.

nyaya

Kokutanga vanachiremba mabhuku mumeporo manyuchi chirwere nedzevakuru zvakanzi zvinorondedzerwa 1954 nachiremba Menkes. Yakasvika zita raro nokuda emandiriri munhuwi weti pavarwere. Vatsvakurudzi sokunge zvipiriso shuga kana matanda manyuchi. Mumwe, zita zvikuru zvesayenzi - chirwere mapazi acids.

It kunoitika pamusoro kamwe mumwe zana namakumi mashanu zviuru vachangoberekwa, nokuti mhando nhaka Gene ichi - autosomal recessive. Ndakatengesa chirwere chakaoma uye kazhinji zvinoguma kufa muuduku.

etiology

Nokuti kukura chirwere vabereki vose vanofanira kuva vatakuri chakaremara Gene basa dehydrogenase Alpha keto acids kuti mapazi-cheni. Zvakasikwa, enzayemu ichi chiri mapuroteni-vapfumi zvokudya zvakadai mazai, mukaka, chizi, nyama, shiri uye nevamwe. A achangoberekwa anova makemikari atsidemiya, riri nengozi zvikuru kuti tsinga.

Maple manyuchi weti chirwere zvikuru mune vaJudha, Amish, VaMennonites. Izvi imhaka yokuti vanogara rimwe namahwindo evanhu boka, uye michato unganyanya kuitikira pakati chaizvo distantly akarondedzera, izvo zvinoreva kuti ndingangokuvara pamberi vabereki mutated Gene anokonzera kupanana amino acids inowedzera yekudyidzana.

zviratidzo

By vhiki rechipiri pashure pokuberekwa anogona yakavimbika kubata chirwere mumeporo manyuchi. Zviratidzo zviri non-tsika mwana wacho maitiro iye kunoramba kuchema chinyararire, asingadyi, uye kazhinji vomits misodzi, kurutsa ringatobva kuitika. With kuchiita kudhaka kuonekwa kugwinha, tsandanyama inzwi inowedzera. Izvi zvinoonekwa muviri wemwana ari kudhonzwa, sokunge, "zvigunwe mutsetse", ne vayambuka makumbo ari muzvitsitsinho. Kusvikira pokumuka opisthotonos.

Kana vabereki tichirega kuteerera chirwere uye Musadana chiremba, inotevera pavaipfuura chirwere - kutyorwa kufema uye kuziva. Vana kuva vane usimbe, kushaya danho, vanowira vadhakwa uye ipapo pakoma. Chetsinga zvinetso, kunyange yakanaka mugumisiro vanoramba kuti upenyu. muripo ichi kuti harina dzaibatsira chirwere chirwere mumeporo manyuchi. Varwere Photos kugumbura, uye kuti chinonyanya chinopunyairireiko, vakawanda vavo vana kuratidzwa.

Chirwere kunobva kuongorora kuvapo ari weti vasiri zvinobata amino acids, uyewo nomusi zvekuchipatara kuratidzwa.

kupatsanura

Zvichienderana kusimba zviratidzo uye mwero inertness dehydrogenase dzakawanda siyana chirwere:

1. Classical. Nguva pfupi pashure pokuberekwa kwomwana sokuti utano, mashoma mazuva, zviratidzo vanotanga kuonekwa. Wokutanga kushaya havi uye kuramba mazamu, ipapo uremu, nguva kufema. Ipapo clonuses kuroorwa uye ipapo clonic-tonic nokugwinha. It rinopera pakoma. Enzayemu basa - asingasviki maviri muzana.
2. Periodic. The chirwere hakuiti unooneka kusvika mwedzi mitanhatu, uye kunyange kusvika makore maviri upenyu. Chikungiso mashandiro ari Kutamiswa kwemabhakitiriya kana chaikonzerwa noutachiona, kubaya kana kunyanya kuwedzera huwandu mapuroteni mune zvokudya. Zviratidzo kutanga kuwedzerwa. Enzayemu basa - kusvika makumi maviri muzana.
3. Tiaminzavisimaya. In zvayo kurapwa kuratidzwa akafanana yapfuura chimiro. Musiyano zvinokosha kuti anoshandiswa kurapa vhitamini B1, izvo yekudyidzana akazoita wevasungwa kuti amino acids mu weti uye ropa.

mabatiro

Sezvo munhu akabvuma kuti chipatara vachingotya zvikuru chepfu, zvadaro chitanga kubata mumeporo manyuchi weti chirwere zvaanofanira detoxification. Nokuti chinangwa ichi, plasmapheresis, peritoneal dialysis, kuisira zvinoumba ropa, uyewo kumanikidzwa diuresis uye hemosorption.

Pashure Kudzikamiswa murwere atange kuchinja metabolic zvirwere. Chekutanga zvose zviri zvokudya ane akaderedza mapuroteni kugutsikana, dzimwe nguva vanokurudzira kurega achiyamwa. Strict kuchengetwa kodzero chikafu kuchabatsira kudzivisa kumwe kukuvara tsinga.

Yazvino akabvumira zvinenge kurapa chirwere mumeporo manyuchi. Sayenzi zvinoratidza uye zvokurimisa mune tsika zvinodhaka kuti kutsiva zvinokosha amino acids. Vachamanikidza vaine padanho muviri ari kuipa chikuva, tichidzivisa chepfu kunyange hwandaiva kudya.

In zvaidiwa kunenge, uye nenguva kurapwa kuchipatara munhu anogona kurarama upenyu huzere. Zvinosuruvarisa chetsinga zvirwere muvana vari kusimukira nokukurumidza, uye vabereki havana nguva chiito chakakodzera.