Nhaka urea kutenderera zvisina kujairika

Hereditary urea kutenderera zvisina kujairika inzvimbo yekugara nhaka. Zvinogona kukonzera matambudziko nekubviswa kwemarara mumuviri weti.

Iyo urea kutenderera inzira inobviswa marara (ammonia) kubva mumuviri. Paunodya mapuroteni, muviri unoadzvanya kuita amino acids. Amoniya inogadzirwa kubva pane zvakasara amino acids, uye inofanirwa kubviswa mumuviri.

Chiropa chinoburitsa akati wandei makemikari (enzymes) ayo anoshandura ammonia kuita fomu inonzi urea, iyo iyo muviri inogona kubvisa mumurini. Kana izvi zvikavhiringidzika, huwandu hweammonia hunotanga kukwira.

Mamiriro akati wandei akagarwa nhaka anogona kukonzera matambudziko neiyi nzira yekubvisa marara. Vanhu vane urea kutenderera kusagadzikana vane rakakanganisika geni iro rinoita maenzymes anodiwa kupaza ammonia mumuviri.

Zvirwere izvi zvinosanganisira:

• Argininosuccinic aciduria
• Arginase kushomeka
• Carbamyl phosphate synthetase (CPS) kushomeka
• Citrullinemia
• N-acetyl glutamate synthetase (NAGS) kushomeka
• Ornithine transcarbamylase (OTC) kushomeka

Seboka, kusagadzikana uku kunoitika mu1 muvane 30,000 vacheche. Kushomeka kweOTC ndiko kunowanzoitika kumatambudziko aya.

Vakomana vanowanzo kubatwa nekushomeka kweOTC kupfuura vasikana. Vasikana havawanzobatwa. Ivo vasikana vanobatwa vane zviratidzo zvakanyanyisa uye vanogona kukura chirwere munguva inotevera muhupenyu.

Kuti uwane mamwe marudzi ezvinetso, iwe unofanirwa kugamuchira kopi isingashande yegene kubva kuvabereki vese. Dzimwe nguva vabereki havazive kuti vanotakura geni kusvikira mwana wavo awana kusagadzikana.

Kazhinji, mwana anotanga kuyamwa zvakanaka uye anoita kunge akajairika. Nekudaro, nekufamba kwenguva mwana anotanga kusadya zvakanaka, kurutsa, uye kurara, izvo zvinogona kunge zvakadzama zvekuti mwana anonetsa kumuka. Izvi zvinowanzoitika mukati mevhiki yekutanga mushure mekuberekwa.

Zviratidzo zvinosanganisira:

• Kuvhiringidzika
• Kuderedza kudya kwekudya
• Kusada zvekudya zvine protein
• Kuwedzera kurara, kunetseka kumuka
• Nausea, kurutsa

Mutapi wezvehutano anowanzoona kusagadzikana uku kana mwana achiri mucheche.

Zviratidzo zvinogona kusanganisira:

• Asina kujairika amino acids muropa uye weti
• Chikamu chisina kujairika che orotic acid muropa kana weti
• Yakakwira ropa ammonia mwero
• Chikamu chakajairwa cheasidhi muropa

Miedzo inogona kusanganisira:

• Arterial ropa gasi
• Ropa ammonia
• Ropa glucose
• Plasma amino acids
• Weti organic makemikari
• Genetic bvunzo
• Chiropa biopsy
• MRI kana CT scan

Kuderedza mapuroteni mukudya kunogona kubatsira kubata kusagadzikana uku nekudzikisa huwandu hwenutrogen marara anogadzirwa nemuviri. (Iyo tsvina iri muchimiro cheammonia.) Yakakosha-mapuroteni mucheche uye mudiki mafomula aripo.

Izvo zvakakosha kuti mupi anotungamira mapuroteni kudya. Iye mupi anogona kuyera huwandu hwepuroteni iyo mwana anowana zvekuti inokwana kukura, asi haina kukwana kukonzera zviratidzo.

Izvo zvakakosha kwazvo kune vanhu vane matambudziko aya kuti vadzivise kutsanya.

Vanhu vane urea kutenderera zvisina kujairika vanofanirwawo kungwarira kwazvo pasi penguva yekushushikana kwepanyama, senge pavanenge vaine hutachiona. Kushungurudzika, senge fivhiri, kunogona kukonzera muviri kuputsa mapuroteni ayo. Aya mapuroteni ekuwedzera anogona kuita kuti zviomere iyo isina kujairika urea kutenderera kuti ibvise zvigadzirwa.

Gadzira chirongwa neako mupi wekuti kana iwe uchirwara kudzivirira mapuroteni ese, kunwa yakakwira makabhohaidhiretsi zvinwiwa, uye kuwana zvinwiwa zvakakwana.

Vazhinji vanhu vane urea kutenderera kunetseka vanofanirwa kugara muchipatara pane imwe nguva. Munguva dzakadai, vanogona kurapwa nemishonga inobatsira muviri kubvisa tsvina ine nitrogen. Dialysis inogona kubatsira kubvisa muviri weakawandisa ammonia panguva yekurwara kwakanyanya. Vamwe vanhu vangangoda kuisirwa chiropa.

RareConnect: Urea Cycle Dambudziko Rekunze Nharaunda - www.rareconnect.org/en/community/urea-cycle-disorders

Kuita zvakanaka kwevanhu zvinoenderana ne:

• Izvo urea kutenderera zvisina kujairika zvavanazvo
• Zvakaoma sei
• Inotangira sei kuwanikwa
• Vanotevera zvakadii ivo vanoteedzera protein-inorambidzwa kudya

Vacheche vanoonekwa muvhiki yekutanga yehupenyu uye vakapfeka protein-inorambidzwa kudya ipapo ipapo vanogona kuita zvakanaka.

Kunamatira kuchikafu kunogona kutungamira kune zvakajairika huchenjeri hwevakuru. Kudzokorora kusateedzera chikafu kana kuve neshungu-inokonzerwa nezviratidzo kunogona kutungamira kukudzwa kwehuropi uye kukuvara kwehuropi.

Kushungurudzika kukuru, kwakadai sekuvhiyiwa kana tsaona, kunogona kuve kwakaomarara kune vanhu vane chirwere ichi. Kunyatsotarisirwa kunodiwa kudzivirira matambudziko panguva dzakadai.

Zvinetso zvinogona kusanganisira:

• Coma
• Kuvhiringidzika uye pakupedzisira kusagadzikana
• Rufu
• Wedzera muropa ammonia level
• Kuzvimba kwehuropi

Kuongororwa kwepamuviri kunowanikwa. Genetic kuyedza mbichana isati yaiswa inogona kuwanikwa kune avo vanoshandisa in vitro kana iyo chaiyo geni chikonzero chinozivikanwa.

Nyanzvi yezvokudya yakakosha kubatsira kuronga nekugadzirisa kudya kwakatemerwa mapuroteni apo mwana anokura.

Sezvo nezvirwere zvizhinji zvakagarwa nhaka, hapana nzira yekudzivirira aya matambudziko kubva mukukura mushure mekuzvarwa.

Kubatira pamwe pakati pevabereki, timu yekurapa, uye mwana akanganiswa kutevera chikafu chakatemwa kunogona kubatsira kudzivirira chirwere chakakomba.

Kujairika kweiyo urea kutenderera - nhaka; Urea kutenderera - nhaka yekusagadzikana

• Urea kutenderera

Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Kukanganisa mune metabolism yemamino acids. Mune: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chits. 103.

Konczal LL, Zinn AB. Inborn zvikanganiso zvemetabolism. Mune: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff naMartin's Neonatal-Perinatal Mushonga. 11th ed. Philadelphia, PA: Elsevier; 2020: chap 90.

Nagamani SCS, Lichter-Konecki U. Zvikanganiso zvekuzvarwa zveurea synthesis. Mune: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Misimboti uye Maitiro. 6th ed. Philadelphia, PA: Elsevier; 2017: chitsiko 38.