Uku kuwedzera kweammonia mumuviri wako here? Ngatidzidzei nezvekushomeka kweOTC!

Pamwe wakambonzwa kuti kana miviri yedu isina kukwana mune zvimwe zvinhu, matambudziko makuru anogona kumuka. Ndizvo zvinoreva kushomeka kweOTC uku. Fungidzira kuti chii chingaitika kana chiropa chako chikashaya enzyme inodiwa kuti chishande zvakanaka? Kunyange zvazvo iyi iri nyaya yakakomba, kune mishonga yakanaka. Ngatitaurei nezveizvi zvakadzama, handiti?

Chii chaizvo chiri kushomeka kweOTC uku?

Zvichitaurwa zviri nyore, kushomeka kweOTC zvinoreva kuti chiropa chako hachikwanise kugadzira enzyme inonzi Ornithine Transcarbamylase (OTC). Iyi enzyme yeOTC inokosha zvikuru nekuti inobatsira kubvisa chinhu chine chepfu chinonzi ammonia muropa redu. Saka kana enzyme iyi yaderera, ammonia inotanga kuungana mumuviri. Uku ndiko kurwara kwemutsinga weurea .

Zvino ngationei kuti izvi zvinoitika sei . Patinodya mapuroteni, mabhakitiriya ari mudumbu medu anopwanya mapuroteni acho ogadzira ammonia sechinhu chinoraswa. Ipapo chiropa chedu chinotora ammonia iyi choishandura kuita urea mukuita kunonzi urea cycle. Ndizvo zvinoitwa neOTC enzyme. Zvadaro itsvo dzedu dzinosefa urea iyi kubva muropa dzoiburitsa seweti. Unonzwisisa here? Saka kana OTC yapera, maitiro ese aya anonyangarika.

Ndeapi marudzi makuru echirwere ichi?

Kushomeka kweOTC kunonyanya kukamurwa kuita mhando nhatu, zvichienderana nenguva inotora kuti zviratidzo zvionekwe:

• Rudzi rwevana vacheche: Urwu ndirwo rudzi rwakanyanya kuoma. Zviratidzo zvinoonekwa mukati memazuva makumi matatu ekutanga ekuzvarwa. Vana ava vanoda kurapwa nekukasika.
• Rudzi rwepakati nepakati: Izvi zvinowanzobata vana vane mwedzi mumwe chete kusvika pamakore angangoita gumi nematanhatu.
• Rudzi rwechirwere rwekunonoka kutanga: Izvi zvinogona kuonekwa mushure memakore gumi nematanhatu, dzimwe nguva kusvika pamakore makumi matanhatu. Ichi ndicho chisina kunyanya kuipa pane mamwe marudzi maviri.

Ndiani ane mukana mukuru wekuva nekushomeka kweOTC?

Kushomeka kweOTC chirwere chisingawanzoitiki . Zvisinei, ndicho chirwere chinowanzoitika pazvirwere zve urea cycle. Sekureva kwevaongorori, chinogona kubata munhu mumwe chete pavanhu 14,000 kana mumwe pavanhu 80,000 pasi rose. Uyezve, chirwere ichi chinokanganisa vakomana kakawanda uye zvakanyanya .

Ndezvipi zviratidzo zvekushomeka kweOTC?

Zviratidzo zvechirwere ichi zvinosiyana zvichienderana nenguva yachinotanga. Muvana vachangoberekwa, zviratidzo zvacho zvinonyanya kuoma. Zviratidzo izvi zvinonyanya kuitika mushure mekudya chikafu chine mapuroteni akawanda.

Zviratidzo muvana vacheche

Kana mwana ane chirwere ichi, unogona kuona zvinhu zvakaita seizvi:

• Vanoramba kudya kana kunwa, uye havanwi mukaka.
• Kurutsa kakawanda.
• Kunetseka zvikuru, kugara ndichichema.
• Kugara ndichinzwa hope uye ndisisina hupenyu (`Nethargy`).
• Kubatwa nepfari kunogona kuitika.
• Muviri usina upenyu, sejira (`Hypotonia`).
• Chiropa chinogona kuzvimba uye kukura (`Hepatomegaly`).

Fungidzira kuti amai vangatya sei kana chimwe chinhu chakadai chikaitika kumwana achangoberekwa . Ndosaka zvichikosha kuziva zviratidzo izvi.

Zviratidzo muvana vane mwedzi mumwe kusvika makore gumi nematanhatu ekuberekwa

Vana vane mwedzi mumwe chete uye vari pasi pemakore gumi nematanhatu vanogonawo kusangana nezviratidzo zvataurwa pamusoro apa. Pamusoro pezvo, unogona zvakare kuona izvi:

• Kuvhiringidzika, mamiriro ekuvhiringidzika kwepfungwa.
• Kuvhiringidzika mupfungwa, zvakaita sekuona zvinhu zvisipo.
• Kurasikirwa nekudzikama uye kutadza kufamba zvakanaka (`Ataxia`).

Zviratidzo muvanhu vakuru

Kana chirwere ichi chikaitika kumunhu mukuru, zvimwe zviratidzo zvinogona kuitika, pamusoro pezviratidzo zvevana vadiki zvataurwa kare:

• Kusvotwa.
• Musoro wakaita semigraine.
• Kutadza kutaura, kutaura zvisina kujeka (Dysarthria).
• Kufungidzira zvinhu zvisipo (hallucinations) zvinoreva kuona kana kunzwa zvinhu zvisipo.
• Kusaona zvakanaka kana zvimwe zvinhu zvinokanganisa kuona.

Sei kushomeka kweOTC uku kuchiitika? Ndezvipi zvinokonzera?

Kushaikwa kweOTC chirwere chemajini . Izvi zvinoreva kuti chinokonzerwa nekuchinja kweDNA yedu. Vaongorori kusvika pari zvino vakaona shanduko dzeDNA dzinosvika mazana mana dzinogona kukonzera chirwere ichi. Zvisinei, mune dzimwe nguva (inenge makumi maviri muzana yenyaya), zvinogonawo kukonzerwa nekuchinja kweDNA kusingaonekwe nemiedzo.

Kune nzira mbiri huru idzo shanduko idzi dzeDNA (`DNA`) dzinogona kuitika nadzo:

• Zvagara nhaka: Mwana anogona kugara nhaka iyi DNA mutation kubva kuna amai vake. Kana izvi zvikaitika, mukomana achave nechirwere ichi. Kana musikana ari iye anotapurira chirwere ichi, achabatwa nacho. Izvi zvinosiyana nyika nenyika, asi kazhinji zviri pakati pe36% ne80% yezvirwere.
• Rudzi rweNoninherited (de novo): Muchiitiko ichi, mwana haagari nhaka yeDNA change. Izvi zvinoreva kuti shanduko iyi yakaitika zvisina tsarukano mwana achiri kukura mudumbu raamai vake.

Kushaikwa kweOTC kwakagara nhaka chirwere chinokonzerwa neX-linked . Izvi zvinoreva kuti vakadzi chete ndivo vanotapurira chirwere ichi uye havazove nechirwere chose. Zvisinei, vanogona kuramba vachiratidza zviratidzo. Tsvagiridzo yakaratidza kuti pakati pe10% ne20% yevakadzi vanotapurira chirwere ichi vachava nezviratidzo pane imwe nguva muhupenyu hwavo.

Ndezvipi zvinetso zvinogona kuitika nekuda kwekushomeka kweOTC?

Kushomeka kweOTC kunogona kukonzera huwandu hwakawanda hweammonia muropa. Huwandu hwakawanda hweammonia muropa (Hyperammonemia) hune chepfu kuuropi . Izvi zvinogona kutungamira ku metabolic encephalopathy.Kana izvi zvikanyanya kana kuti zvikagara kwenguva yakareba, matambudziko akakomba anogona kuitika, akadai se:

• Kuremara kwepfungwa nekunonoka kukura kwepfungwa.
• Zvirwere zvetsinga zvakaita se cerebral palsy.
• Kuwira mukoma zvinoreva kurasikirwa nepfungwa.
• Zvinosuwisa kuti kunyange rufu runogona kuitika.

Matambudziko aya anowanzoonekwa, uye akanyanya kuoma, muvana vachangoberekwa vane kushomeka kweOTC.

Kushomeka kweOTC kunogona kuva nengozi zvikuru panguva yekuzvitakura. Zvisinei, zvinokwanisika kugadzirisa dambudziko iri panguva yekuzvitakura uye kuva nemwana ane hutano. Kana uine kushomeka kweOTC, kana kana mumwe munhu mumhuri mako ane nhoroondo yechirwere ichi, zvakanaka kutaura nachiremba wezvekubereka uye chiremba wevakadzi (`Ob/Gyn`). Vanogona kushanda navanachiremba vanorapa kushomeka kweOTC yako kuti varonge rubatsiro rwaunoda.

Vanachiremba vanoona sei kushomeka kweOTC?

Kushomeka kweOTC kunonyanya kuonekwa kuburikidza nekuongororwa kwemurabhoritari, kunyanya kuongororwa kweropa uye kuongororwa weti. Kazhinji, kunogona kuonekwa mwana asati aberekwa kuburikidza nekuongororwa kweDNA. Zvisinei, kunyangwe kushomeka kweOTC kuri chirwere chemajini, bvunzo idzi dzingasakwanise kuona shanduko dzese dzeDNA dzinogona kukonzera. Izvi zvinodaro nekuti kune mhando dzakasiyana dzekuchinja kweDNA dzinogona kukonzera.

Zvichienderana nemitemo yenyika yaunogara, panogona kunge paine nzira yekuongorora mwana wese achangoberekwa kuti aone kana aine chirwere cheOTC. Munzvimbo dzakadaro, mikana yekuona chirwere ichi nekukurumidza yakakura.

Zvisinei, munzvimbo dzisina nzira dzakadaro dzekuyedza, zvinogona kuoma kunyange kuna vanachiremba vane ruzivo kuti vaongorore chirwere chacho mushure mekunge mwana azvarwa. Izvi zvinodaro nekuti zviratidzo zvacho hazvinyatsooneki pakutanga uye zvinogona kufanana nechero chimwe chirwere. Muzviitiko zvakakomba, chepfu yeammonia inogona kukonzera kukuvara kweuropi vanachiremba vasati vatomboona chirwere chacho.

Ndeapi marapirwo ekushomeka kweOTC?

Mashoko akanaka ndeekuti kune mishonga yakanaka yekurapa kushomeka kweOTC. Pane zvinhu zvishoma zvakakosha zvekurangarira pakurapa izvi:

• Kuderedza huwandu hweammonia muropa: Kana paine emergency, dialysis inogona kubvisa ammonia muropa nekukurumidza.
• Nzira dzakasiyana dzekurapa: Kune mishonga inobvisa nitrogen. Iyi inoshanda nekubata nitrogen, kuigadzira nedzimwe nzira, uye kudzivirira kuumbwa kweammonia. Mienzaniso inosanganisira mishonga yakaita seSodium Phenylacetate neSodium Benzoate.
• Kuchinja kwekudya: Kuderedza uye kudzora kudya mapuroteni kwakakosha kuti ropa rirambe riine ammonia.Kuti uite izvi, unofanirwa kutanga watora macalorie kubva kumacarbohydrates ('carbs') nemafuta ('mafuta').
• Kuwedzera: Ma amino acids anokosha asingawanikwe kubva kumapuroteni anofanira kutorwa sekuwedzera.
• Kuongorora huwandu hweammonia muropa: Kuongororwa ropa nguva dzose kunogona kubatsira kuona huwandu hweammonia muropa husati hwakwira zvine njodzi.

Kana kushomeka kweOTC kukaonekwa mwana asati aberekwa, zvinogona kuitika kuti mwana atange kurapwa. Kupa amai mishonga iyi inogona kushandiswa nguva pfupi mwana asati aberekwa kunogona kubatsira kuchengetedza huwandu hweammonia mumwana mushure mekuzvarwa.

Kushomeka kweOTC kunogona kurapwa zvachose here?

Ehe, kune nzira yekurapa kushomeka kweOTC. Uku ndiko kuisirwa chiropa . Muizvi, chiropa chako chine chirwere chinobviswa uye chiropa chine hutano chinoisirwa. Chiropa ichocho chinogona kugadzira enzyme yeOTC. Mushure mekuisirwa chiropa, unogona kudya chikafu chakajairika, chine hutano uye haufanirwe kunwa mishonga inoderedza ammonia.

Zvinosuwisa kuti kuisirwa chiropa hakuwanzoitiki nekuda kwezvikonzero zvakasiyana-siyana. Zvakare, vanhu vakaisirwa chiropa vanofanira kutora mishonga inodzvinyirira immune system kweupenyu hwavo hwese kudzivirira kurambwa kwenhengo yakaisirwa. Chiremba wako anogona kukuudza zvakawanda nezvekuisirwa chiropa uye kuti zvingakanganisa sei iwe.

Kurapa majini ekushaya OTC kuri kuongororwawo parizvino. Kurapa uku kungave kuri imwe nzira yeramangwana pane kuisirwa chiropa chechirwere ichi.

Chii chaungatarisira kana uchirarama nekushomeka kweOTC?

Zvaunogona kutarisira nekushomeka kweOTC zvinosiyana zvichienderana nekuoma kwechirwere. Kana chirwere chacho chakanyanya kuoma, unogona kudya mapuroteni mashoma zvakachengeteka. Vanhu vazhinji vane kushomeka kweOTC vanosarudza kudya miriwo kunyangwe vasati vaonekwa kuti vane chirwere ichi, nekuti zviri nyore kwavari. Chiremba wako achakutungamira kuti ungadya mapuroteni akawanda sei uye kuti ungaatarisa sei.

Kazhinji, kuva nekushomeka kweOTC kunogona kukanganisa hupenyu hwako zvakanyanya. Kuwedzera kwehuwandu hweammonia muropa kunogona kuwedzera njodzi yezvinetso zvakaita sekuremara kwepfungwa. Ndosaka zvichikosha kuchengetedza huwandu hweammonia hwakaderera.

Zvisinei, nekutarisa, kurapwa, uye kudya zvine mapuroteni mashoma, kushomeka kweOTC chirwere chinorapika zvikuru. Zvakakosha kugara uchitarisa huwandu hweammonia muropa rako kuti uve nechokwadi chekuti hahukwire. Kana huwandu hweammonia muropa rako hwakakwira, kurapwa kunogona kubatsira kudzikisa huwandu hwacho.

Kushomeka kweOTC kunogara kwenguva yakareba sei?

Kushaikwa kweOTC chirwere chekuzvarwa nacho , zvichireva kuti unozvarwa nacho, uye chinogara kweupenyu hwese. Kuisirwa chiropa ndicho chega mushonga unowanikwa.

Ramangwana remunhu ane dambudziko reOTC rakaita sei?

Kufanotaura kwemunhu ane dambudziko reOTC kunoenderana nekuti zviratidzo zvinotanga kuoneka riini. Ongororo ya2020 inoratidza kuti varwere vanoonekwa vari pakati pemakore epakati nepakati nepakati vane fungidziro iri nani. Huwandu hwevanofa hunobva pa8% kusvika 13%.

Vana vacheche vanowanzova nezvirwere zvakakomba, uye huwandu hwevakafa hwakakwirawo. Zvisinei, huwandu hwevakafa hwadzikira zvikuru ikozvino kupfuura mumakore apfuura. Ongororo yemakore makumi matatu yakaitwa kubva muna 1971 kusvika 2011 yakawana kuti huwandu hwevakafa vevana vacheche hwaive 74%. Zvisinei, ongororo yakatevera yakaitwa kubva muna 2001 kusvika 2013 yakawana kuti huwandu hwevakafa hwakadzikira kusvika pa43%. Izvi zvinoratidza kuti musiyano wakakura sei nekufambira mberi kwesainzi yezvekurapa.

Pane nzira yekudzivirira kushomeka kweOTC here?

Hapana nzira yekudzivirira kushomeka kweOTC. Zvisinei, unogona kuwana mazano ezvemajini usati wava nevana. Kunyange zvazvo izvi zvisingakwanise kudzivirira chirwere ichi, zvinogona kukubatsira kunzwisisa mikana yekuti vana vako vachachigara nhaka.

Nguva ipi yaunofanira kuenda kuchipatara?

Kana iwe kana mwana wako muine zviratidzo zve ammonia yakawanda muropa (`ammonia`), munofanira kuenda kuchipatara kana kuchipatara nekukurumidza . Kana ammonia iri muropa (`ammonia`) ikaramba yakakwira kwenguva yakareba, njodzi yekukuvara kwehuropi zvachose inowedzera. Saka hazvina kunaka kunonoka.

Ndeipi mibvunzo inokosha yekubvunza chiremba wako?

Kana ukaona chiremba wako, zvakanaka kubvunza mibvunzo yakaita seiyi:

• Kushaikwa kweOTC kwangu kunokonzerwa nekuchinja kwemajini kwakaonekwa parizvino here?
• Pane vamwe vemumhuri mangu vanofanira kuongororwa kuti havana OTC here?
• Ndechipi chiyero chikuru cheprotein chandingatora pazuva?
• Ndinofanira kurapwa sei?
• Ndezvipi zvekudya zvinovaka muviri zvandinofanira kutora?
• Ndezvipi zviratidzo zvinoda kurapwa nekukurumidza?

Pakupedzisira, zvinhu zvishoma zvekufunga nezvazvo

Kunyangwe chirwere ichi chichikubata iwe kana mwana wako, zvakajairika kuti unzwe manzwiro akasiyana-siyana paunodzidza kuti ichi chirwere chemajini chehupenyu hwako hwese. Unganzwa kutya, kuzvidya mwoyo, uye hasha. Manzwiro ese aya anonzwisisika.

Asi unofanira kuyeuka kuti kushomeka kweOTC hakusi mhosva yako , uye kazhinji kunokonzerwa nezvinhu zvausingakwanise kudzora.

Kunyange hazvo kushomeka kweOTC kuri chirwere chakakomba, kufambira mberi mune zvesainzi yezvekurapa kwakaita kuti chirapwe zvakanyanya kupfuura zvachaive makumi emakore apfuura. Nekuongororwa nekurapwa nguva dzose, chirwere ichi chinogona kugadziriswa zvakanyanya. Kunewo humbowo huri kukura hwekuti kuisirwa chiropa kunogona kurapa chirwere ichi. Kana uine mibvunzo kana uchida rubatsiro munzira, usakanganwa kuvimba nechikwata chako chezvekurapa. Vanogara varipo kuti vakutungamirire uye vakutsigire.

Kushomeka kweOTC , ammonia, chiropa, urea cycle, zvirwere zvemajini, mapuroteni, zvirwere zvevana