Pane dambudziko here nehurongwa hwemuviri wako hwekubvisa tsvina mumuviri? Ngatidzidzei nezve Urea Cycle Disorder!

Tose tinoziva kuti miviri yedu inowana zvinovaka muviri zvinodiwa kubva muchikafu chatinodya. Zvakare, panguva iyi, miviri yedu inogadzira zvinhu zvisingadiwe, dzimwe nguva zvine chepfu. Saka, miviri yedu ine sisitimu inoshamisa yekusefa chepfu idzi dzisingadiwe uye kutakura zvinhu zvakanaka mumuviri wese. Asi, chii chinoitika kana paine kusasimba muiyi sisitimu ye'sefa'? Ndiyo imwe yenyaya dzakakosha dzatichataura nezvadzo nhasi.

Chii chinonzi Urea Cycle? Ngatinzwisise zviri nyore!

Funga nezve urea cycle senzira yekusefa inobvisa chepfu mumiviri yedu. Inobatsira kubvisa zvinhu zvinokuvadza mumiviri yedu uye kutakura zvinhu zvinobatsira mumuviri wese.

Maitiro aya anotanga mushure mekudya. Mapuroteni ari muchikafu chatinodya anoputswa-putswa mukati memiviri yedu kuita maamino acids . Aya maamino acids ndiwo mayuniti ekutanga emapuroteni. Kungofanana nezvidhinha zvinodiwa kuvaka chivako, maamino acids aya akakosha pakuvaka tsandanyama, kutakura zvinovaka muviri, uye kuchengetedza nhengo dzichishanda zvakanaka.

Zvino, kana puroteni iyi yagayiwa, gasi rinonzi ammonia rinogadzirwa sechigadzirwa chemarara. Ammonia iyi ine chepfu mumuviri wedu. Saka, kuti tibvise ammonia iyi ine chepfu, ma enzymes mumuviri wedu - kureva mapuroteni akakosha anoita makemikari - anoshandura ammonia iyi kuita chinhu chisina njodzi chinonzi urea muchiropa. Urea iyi ine mamwe ma amino acids akawanda pamwe chete neammonia:

• Arginine
• Ornithine
• Citrulline

Zvadaro, ma enzyme aya anotakura urea neropa kuenda kuitsvo. Danho rekupedzisira mu urea cycle nderekuburitsa urea iyi muweti yedu. Ndizvo zvinoitwa ne urea cycle, muchidimbu.

Saka, chii chinonzi urea cycle disorder?

Dambudziko reUrea Cycle Disorder (UCD) iboka rezvirwere umo maitiro ekufambisa urea mumuviri wese, sezvatakambokurukura, asingashande nemazvo. Izvi zvinowanzo kukonzerwa nekushaikwa kana kushomeka kweprotein kana enzyme inodiwa pakuita izvozvo.

Ichi chirwere chemajini , zvinoreva kuti chinhu chiripo kubva pakuzvarwa. Vanachiremba vanoti Inborn Error of Metabolism . Izvi zvinoita kuti ammonia ine chepfu iungane muropa redu. Izvi zvinonzi Hyperammonemia . Chirwere ichi chine mhedzisiro yakaipa kwazvo pamiviri yedu, kunyanya uropi nedzimwe nhengo dzemuviri .

Pane mhando dzezvirwere zve urea cycle here?

Ehe, kune matambudziko masere anozivikanwa e urea cycle. Chimwe nechimwe chazvo chinokonzerwa nekushaikwa kwe enzyme kana protein inodiwa pa urea cycle:

• Kushaikwa kweN-acetylglutamate synthase (NAGS)
• Kushaikwa kweCarbamoylphosphate synthetase I (CPS1)
• Kushaikwa kweOrnithine transcarbamylase (OTC)
• Kushaikwa kweArgininosuccinate synthase 1 (ASS1) kana Citrullinemia rudzi I
• Kushaikwa kweCitrin kana Citrullinemia rudzi rwechipiri
• Kushaikwa kweArgininosuccinic lyase (ASL)
• Kushaikwa kweArginase (ARG)
• Kushaikwa kweOrnithine translocase

Kunyange zvazvo izvi zvinganzwika sesainzi, zvinoreva kuti chimwe nechimwe chezvizvi ndechekuti pane dambudziko padanho rakati remushonga weurea.

Ndiani anogona kuva nechirwere ichi?

Ichi chirwere chemajini chinogona kukanganisa chero munhu. Vana vacheche vanogona kuongororwa neUniversal Newborn Screening Blood Tests, iyo inoitwa mukati memazuva mashoma ekuzvarwa. Zvisinei, dzimwe nguva zviratidzo zvinoonekwa gare gare muhupenyu. Kana zvakadaro, vanhu vakuru vanogonawo kuonekwa vaine chirwere ichi.

Izvi zvinobva kuzvizvarwa nezvizvarwa here?

Ehe, kushomeka kwemutsinga we urea chirwere chinogara nhaka . Kazhinji, kuti uve nechirwere ichi, unofanirwa kugara nhaka yekuchinja kwemajini kubva kuna amai vako nababa vako. Izvi zvinonzi autosomal recessive transmission. Mamwe marudzi anopfuudzwa kuvana vako mushure mekubata pamuviri, zvakabatana nechromosome yebonde. Izvi zvinonzi X-linked transmission.

Mamiriro ezvinhu aya akajairika zvakadii?

MuUnited States, zvinofungidzirwa kuti chirwere ichi chinobata munhu mumwe chete pavanhu 35,000. Kunyange hazvo nhamba chaiyo isiripo muSri Lanka, ichi chinoonekwa sechirwere chisingawanzoitiki.

Ndezvipi zviratidzo zvekushaikwa kwemushonga we urea?

Zviratidzo zvekutanga zvechirwere ichi zvinowanzoonekwa pakuzvarwa. Zvisinei, zviratidzo izvi zvinogona kuonekwa pazera ripi zvaro. Ona kana zviratidzo izvi zvichinzwika sezvaunoziva:

• Kurara, kuneta zvakanyanya (Nethargy)
• Kuchema kakawanda uye kusagadzikana muvana vacheche (Kunetseka muvana vacheche)
• Kusvotwa kana kurutsa
• Handikwanise kudya kana kupa chikafu
• Kufema nekukurumidza kana kunonoka zvakanyanya
• Kuvhiringidzika, kurasikirwa nepfungwa

Zviratidzo izvi zvinokonzerwa nekuwedzera kwehuwandu hweammonia muropa (Hyperammonemia). Zviratidzo izvi zvinogona kubva pane zvishoma kusvika zvakanyanya . Unogonawo kuona zvinhu zvakaita se:

• Matambudziko ekukura kwepfungwa nematambudziko epfungwa
• Kuchinja kwemaitiro
• Kunonoka kukura - Izvi zvinoreva kuti kukura kwemwana hakuna kukodzera zera rake.
• Kuungana kwemvura muuropi (Cerebral Edema)
• Kuomarara kwetsandanyama, kugwinha (Spasticity)
• Zvirwere zvepfari, pfari
• Kushaya kuziva, coma

Zvakakosha: Zviratidzo zvinokanganisa uropi zvinogona kuisa hupenyu panjodzi, saka zvakakosha kutsvaga rubatsiro rwechiremba nekukasika kana uine zviratidzo izvi.

Chikonzero cheizvi chii?

Sezvambotaurwa, kushomeka kwe urea cycle kunokonzerwa nekuchinja kwemajini . Rudzi rumwe nerumwe rwemhando dzatakakurukura kare runokonzerwa nekuchinja kwemajini kwakasiyana:

• Kushaikwa kweN-acetylglutamate synthase: kuchinja kwegene reNAGS .
• Kushaikwa kweCarbamoylphosphate synthetase I: kuchinja kwejini reCPS1 .
• Kushaikwa kweOrnithine transcarbamylase: kuchinja kwejini reOTC .
• Kushaikwa kweArgininosuccinate synthase 1: kuchinja kwejini reASS1 .
• Kushaikwa kweCitrin: Kuchinja kwejini reSLC25A13 .
• Kushaikwa kweArgininosuccinic lyase: kuchinja kwejini reASL .
• Kushaikwa kweArginase: Kuchinja kwejini reARG .
• Kushaikwa kweOrnithine translocase: kuchinja kwejini reSLC25A15 .

Majini aya ndiwo anogadzira mapuroteni nema enzyme anodiwa kutakura urea mumuviri wese. Kana paine shanduko yemajini, muviri haugadzi mapuroteni aya kana ma enzymes akakwana. Zvadaro, muviri haugone kubvisa ammonia ine chepfu, iyo inoungana muropa uye inokonzera zviratidzo.

Chirwere ichi chinoonekwa sei?

Chiremba wako achatanga abvunza nezvezviratidzo zvako, oita bvunzo yemuviri, uye onyora nhoroondo yezveutano hwako. Zvadaro, vanogona kuraira kuongororwa ropa kana weti kuti vaone kuti chirwere chako chakamira sei.

Ndedzipi bvunzo dziri kuitwa pakuita izvi?

• Kuongororwa kweAmino acid: Muenzaniso weropa rako kana weti unoyera huwandu hweamino acids mumuviri wako.
• Kuongororwa kwechiropa: Chidimbu chidiki kwazvo chechiropa chinotorwa choongororwa nemaikorosikopu kuti chionekwe kana paine ma enzymes ane chekuita nechirwere ichi uye mashandiro aanoita.
• Kuongororwa Kwemajini: Ropa rinotorwa kuti rione kana paine shanduko dzemajini dziri kukonzera zviratidzo zvemuviri wako.

Izvi zvinorapwa sei?

Chinangwa chikuru chekurapa zvirwere zve urea cycle ndechekuderedza huwandu hwe ammonia muropa. Izvi zvinogona kuitwa ne:

• Kudya chikafu chine mapuroteni mashoma.
• Kuchenesa ropa: Nzira inoshandiswa kubvisa chepfu muropa. Izvi zvinonziwo hemodialysis .
• Kushandisa mishonga: Mishonga yakaita seSodium Phenylacetate neSodium Benzoate (semuenzaniso Ammonul® ) inobatsira kubvisa ammonia muropa.
• Kutora Amino Acid Supplements: Mishonga yakaita seArginine kana Citrulline inobatsira muviri kupedzisa urea cycle.

Muzviitiko zvakakomba zve hyperammonemia, kuisirwa chiropa kunogona kudiwa.

Usati watanga kurapwa, taura nachiremba wako nezvemigumisiro yemishonga mitsva uye maitiro ayo. Zvakare, udza chiremba wako nezve mimwe mishonga kana zvimwe zvinowedzera zvauri kutora parizvino. Izvi zvinogona kukubatsira kudzivirira migumisiro isingadiwe.

Kana uine chirwere che urea cycle, ndezvipi zvekudya zvaunofanira kudzivisa?

Kudya chikafu chisina mapuroteni akawanda ndiyo nzira yakanakisisa yekugadzirisa dambudziko iri. Izvi zvinodaro nekuti kana puroteni iri muchikafu chatinodya ikapwanyika, maamino acid anoumbwa, ayo anobva agadzira ammonia. Munhu ane chirwere cheurea cycle disorder haakwanise kubvisa ammonia iyi. Saka, kudya chikafu chine mapuroteni mashoma kunogona kuderedza njodzi yekuti ammonia iungane muropa.

Heano mamwe emhando huru dzezvikafu zvine mapuroteni akawanda zvaunofanira kuderedza kubva pakudya kwako:

• Hove
• Huku
• Mazai
• Nyama yemombe
• Mhando dzebhinzi
• Tofu kana chikafu chine soya

Zvisinei, sezvo mapuroteni achikosha kumiviri yedu, kuabvisa zvachose kunogona kuva nemigumisiro yakaipa, yakadai sekukura zvishoma nezvishoma. Nokudaro, chiremba wako anogona kukutumira kune nyanzvi yezvekudya kana nyanzvi yezvekudya . Vanogona kukubatsira kudzora huwandu hwemapuroteni aunodya. Dzimwe nguva, chiremba wako anogonawo kukurudzira kutora mavhitamini, maminerari, kana amino acid supplements kuti abatsire kutsiva kushomeka kwezvekudya kunokonzerwa nekudziviswa kwemapuroteni.

Mwana achangoberekwa anogona kuyamwiswa here kana aine chirwere ichi?

Mwana wako anowana mapuroteni kubva mumukaka wezamu. Kunyange zvazvo uchigona kuyamwisa, chiremba wako anowanzo tarisa kuti anokanganisa sei mwana wako. Kana uchida kuderedza kudya mapuroteni kunoitwa nemwana wako, chiremba wako anogona kukurudzira kuti upe mwana wako mukaka wemucheche wakasarudzika panzvimbo pemukaka wezamu.

Mamiriro ezvinhu aya anogona kudzivirirwa here?

Ichi chirwere chemajini uye hachigone kudzivirirwa. Kana uchironga kubata pamuviri uye uchida kuziva njodzi yekuva nemwana ane chirwere chemajini, taura nachiremba wako nezvemazano emajini .

Munhu ane chirwere che urea cycle disorder anogona kuva netariro yerudzii?

Kana chiremba wako angoona chirwere ichi, achatanga kurapwa kuderedza huwandu hweammonia muropa. Kune vacheche, kurapwa kunotanga mushure mekuzvarwa kudzivirira matambudziko. Kana kurapwa kwangotanga, chiremba achaongorora huwandu hweammonia muropa kusvika hwadzokera padanho rakachengeteka.

Dambudziko iri rinoda kutariswa kwehupenyu hwese uye kudya chikafu chisina mapuroteni akawanda . Kudya mapuroteni akawandisa kunogona kukonzera zviratidzo zvekudzoka.

Kana hyperammonemia ikanyanya, inogona kutungamira mukukuvara kweuropi kusingagadzirisiki, koma, kana kutofa. Saka, taura nachiremba wako nezvekuti ungagadzirisa sei dambudziko rako kana remwana wako kudzivirira matambudziko aya anotyisidzira hupenyu.

Chii chingave chiri fungidziro yekupora kana munhu arwara nechirwere ichi?

Maonero ako anoenderana nekuoma kwezviratidzo zvako. Kana zvikaonekwa nekukurumidza, zvikarapwa, uye zvikarapwa muhupenyu hwako hwese, hupenyu hwako hunogona kuva hwakajairika. Zvisinei, kana zvikasarapwa kana kusaonekwa, zvinogona kuuraya.

Ndinofanira kuona chiremba rini?

Kana uine zviratidzo zvechirwere ichi, kunyanya kana uchinzwa kuneta zvakanyanya kana kuti usingakwanise kudya , enda kuna chiremba.

Mwana wako paanokura, zvakakosha kuti utarise kana ari kuzadzisa zvinangwa zvake zvekukura . Kureva kuti, kana ari kuita zvinhu zvinoenderana nezera rake. Kana zvisina kudaro, enda kuna chiremba.

Kana iwe kana mwana wako muine pfari kana kuti muine dambudziko rekufema, endai kuchipatara nekukurumidza.

Mibvunzo ipi yandinofanira kubvunza chiremba wangu?

• Ndingaita sei kuti mwana wangu agare zvakanaka?
• Ndinofanira kuona nyanzvi yezvekudya here?
• Ndezvipi migumisiro yekurapwa?
• Ndinofanira kubvisa chikafu chipi?

Zvakajairika kuti unzwe kunetseka paunoona kuti iwe kana mwana wako ane chirwere ichi chisingawanzoitiki chemajini. Chiremba wako anogona kukubatsira kugadzirisa chirwere ichi. Nekudya chikafu chine mapuroteni mashoma, unogona kuderedza mashandiro anoita chirwere ichi mumuviri wako. Izvi zvinogona kubatsira kuderedza zviratidzo uye kukubatsira kuti unzwe zviri nani. Kana uchinzwa wakaneta nguva dzese, uchinetseka nekudya, kana kuti uine shanduko dzisingawanzoitika mumaitiro ako, iva nechokwadi chekuona chiremba.

Zvinhu zvakakosha zvekurangarira (Mharidzo Yekuenda Kumba)

Zvakanaka, saka tataura zvakawanda nezve Urea Cycle Disorder. Muchidimbu, hezvino zvinhu zvishoma zvekurangarira:

• Ichi chirwere chemajini: zvinoreva kuti chinhu chaunozvarwa nacho. Chinoitika pano ndechekuti miviri yedu haigone kubvisa zvakanaka chinhu chine chepfu chinonzi ammonia.
• Zvakakosha kuziva nekukurumidza:Kunyanya kuvana vacheche vachangoberekwa. Kana ukaona zviratidzo, tsvaga rubatsiro rwechiremba nekukasika.
• Kune mishonga: Chinhu chikuru ndechekudzora huwandu hweammonia muropa. Izvi zvinogona kuitwa nekudya kusina mapuroteni akawanda, mishonga, uye mamwe marapirwo.
• Kutarisira hupenyu hwese kunodiwa: Kana zvikatarisirwa nemazvo, vanhu vazhinji vanogona kurarama hupenyu hwakajairika.
• Tevedzera mazano echiremba: Zvakakosha kuti hutano hwako hutevedzere mazano anopiwa nachiremba wako nenyanzvi yezvekudya.

Usavhunduke. Chinhu chakakosha kuziva nezvechirwere ichi uye kuwana rubatsiro rwakakodzera rwechiremba. Kana uine mimwe mibvunzo, usatya kutaura nachiremba wako.

Kutenderera kweUrea , ammonia, zvirwere zvemajini, metabolism yeprotein, hyperammonemia, zvirwere zvevana, matambudziko emetabolic