Cholowa urea mkombero zachilendo

Chibadwa cha urea chosazolowereka ndichikhalidwe chobadwa nacho. Zingayambitse mavuto ndikuchotsa zinyalala mthupi mwa mkodzo.

Kuzungulira kwa urea ndi njira yomwe zinyalala (ammonia) zimachotsedwa mthupi. Mukamadya mapuloteni, thupi limaphwanya amino acid. Amoniya amapangidwa kuchokera ku amino acid otsala, ndipo ayenera kuchotsedwa mthupi.

Chiwindi chimapanga mankhwala angapo (ma enzyme) omwe amasintha ammonia kukhala mawonekedwe otchedwa urea, omwe thupi limatha kuchotsa mumkodzo. Ngati izi zasokonekera, milingo ya ammonia imayamba kukwera.

Zinthu zingapo zobadwa nazo zitha kubweretsa zovuta pantchito yochotsa zinyalala. Anthu omwe ali ndi vuto la urea amakhala ndi jini yolakwika yomwe imapangitsa ma enzyme omwe amafunikira kuti amenyetse ammonia mthupi.

Matendawa ndi awa:

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

Monga gulu, zovuta izi zimachitika mwa mwana m'modzi mwa ana 30,000 obadwa kumene. Kuperewera kwa OTC ndi komwe kumafala kwambiri pamavutowa.

Anyamata amakhudzidwa kwambiri ndikusowa kwa OTC kuposa atsikana. Atsikana samakhudzidwa kawirikawiri. Atsikana omwe akhudzidwa amakhala ndi zisonyezo zazikulu ndipo amatha kudwala matendawa atakula.

Kuti mupeze zovuta zina, muyenera kulandira mtundu wosagwira ntchito kuchokera kwa makolo onse. Nthawi zina makolo samadziwa kuti amanyamula jini mpaka mwana wawo atapeza vutoli.

Nthawi zambiri, mwanayo amayamba kuyamwa bwino ndipo amawoneka wabwinobwino. Komabe, m'kupita kwa nthawi mwanayo amakula movutikira kudyetsa, kusanza, ndi kugona, zomwe zitha kukhala zakuya kwambiri kwakuti zimavuta kuti mwana adzuke. Izi zimachitika kawirikawiri mkati mwa sabata yoyamba atabadwa.

Zizindikiro zake ndi izi:

• Kusokonezeka
• Kuchepetsa kudya
• Sakonda zakudya zomwe zili ndi mapuloteni
• Kuchuluka kwa kugona, kuvuta kudzuka
• Nseru, kusanza

Wopereka chithandizo chamankhwala nthawi zambiri amapeza zovuta izi mwanayo akadali khanda.

Zizindikiro zimatha kuphatikiza:

• Amino acid osadziwika m'magazi ndi mkodzo
• Mlingo wosazolowereka wa orotic acid m'magazi kapena mkodzo
• Mulingo wama ammonia wamagazi ambiri
• Mulingo wabwinobwino wa asidi m'magazi

Mayeso atha kuphatikiza:

• Magazi amitsempha yamagazi
• Magazi ammonia
• Magazi a shuga
• Madzi a m'magazi amino acid
• Mkodzo organic acid
• Mayeso achibadwa
• Chiwindi
• MRI kapena CT scan

Kuchepetsa mapuloteni pazakudya kungathandize kuthana ndi mavutowa pochepetsa kuchuluka kwa zinyalala za nayitrogeni zomwe thupi limapanga. (Zinyalala zili mu mtundu wa ammonia.) Makina apadera okhala ndi mapuloteni aang'ono ndi ana aang'ono amapezeka.

Ndikofunikira kuti woperekayo awongolere kudya kwa mapuloteni. Wothandizirayo amatha kuchepetsa kuchuluka kwa mapuloteni omwe mwana amapeza kuti ndikwanira kukula, koma osakwanira kuyambitsa zizindikilo.

Ndikofunikira kwambiri kuti anthu omwe ali ndi vutoli apewe kusala kudya.

Anthu omwe ali ndi vuto la urea amayeneranso kukhala osamala kwambiri panthawi yamavuto monga ngati ali ndi matenda. Kupsinjika, monga malungo, kumatha kupangitsa thupi kuphwanya mapuloteni ake. Mapuloteni owonjezerawa amatha kupangitsa kuti zovuta za urea zizichotsedwa kuti zizichotsedwa.

Pangani pulani ndi omwe akukuthandizani mukamadwala kuti mupewe mapuloteni onse, imwani zakumwa zamadzimadzi ambiri, komanso madzi okwanira.

Anthu ambiri omwe ali ndi vuto la urea amayenera kukhala mchipatala nthawi ina. Nthawi ngati izi, amatha kulandira mankhwala omwe amathandiza thupi kuchotsa zinyalala zokhala ndi nayitrogeni. Dialysis itha kuthandizira kuchotsa thupi la ammonia wochulukirapo panthawi yakudwala kwambiri. Anthu ena angafunike kumuika chiwindi.

RareConnect: Urea Cycle Disorder Gulu Lovomerezeka - www.rareconnect.org/en/community/urea-cycle-disorders

Momwe anthu amachitira bwino zimadalira:

• Omwe urea amayenda modabwitsa omwe ali nawo
• Ndizovuta bwanji
• Zimapezeka msanga
• Amatsatira mosamalitsa zakudya zoletsedwa ndi mapuloteni

Ana omwe amapezeka sabata yoyamba ya moyo ndikudya zakudya zoletsedwa ndi protein nthawi yomweyo atha kuchita bwino.

Kutsata pazakudya kumatha kubweretsa nzeru za achikulire. Mobwerezabwereza kusadya kapena kukhala ndi zisonyezo zomwe zimayambitsa kupsinjika kumatha kubweretsa kutupa kwa ubongo ndikuwononga ubongo.

Zovuta zazikulu, monga opaleshoni kapena ngozi, zitha kukhala zovuta kwa anthu omwe ali ndi vutoli. Chisamaliro chofunikira chimafunika kuti tipewe mavuto munthawi zoterezi.

Zovuta zitha kukhala:

• Coma
• Kusokonezeka ndipo pamapeto pake kusokonezeka
• Imfa
• Wonjezerani mulingo wa ammonia wamagazi
• Kutupa kwa ubongo

Kuyezetsa asanabadwe kulipo. Kuyesedwa kwa majini mwana asanabadwe kumatha kupezeka kwa iwo omwe amagwiritsa ntchito vitro ngati chibadwa chodziwika chikudziwika.

Katswiri wazakudya ndikofunikira kuthandiza kukonza ndikusintha zakudya zoletsedwa ndi mapuloteni mwanayo akamakula.

Monga momwe zimakhalira ndi matenda obadwa nawo ambiri, palibe njira yoletsera mavutowa kuti asadzabereke.

Kugwirizana pakati pa makolo, gulu lachipatala, ndi mwana wovutikayo kutsatira chakudya choyenera kungathandize kupewa matenda.

Zovuta za urea kuzungulira - cholowa; Urea kuzungulira - kubadwa kwachilendo

• Urea kuzungulira

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Konczal LL, Zinn AB. (Adasankhidwa) Kubadwa zolakwa kagayidwe. Mu: Martin RJ, Fanaroff AA, Walsh MC, olemba., Eds. Fanaroff ndi Martin's Neonatal-Perinatal Medicine. 11th ed. Philadelphia, PA: Elsevier; 2020: chap 90.

Nagamani SCS, Lichter-Konecki U. Zolakwika zobadwa za kaphatikizidwe ka urea. Mu: Swaiman KF, Ashwal S, Ferriero DM, et al, olemba. Swaiman's Pediatric Neurology: Mfundo ndi Zochita. Lachisanu ndi chimodzi. Philadelphia, PA: Elsevier; 2017: mutu 38.