Kodi pali vuto ndi njira yochotsera poizoni m'thupi lanu? Tiyeni tiphunzire za matenda a Urea Cycle Disorder!

Tonsefe tikudziwa kuti matupi athu amalandira michere yomwe amafunikira kuchokera muzakudya zomwe timadya. Komanso, panthawiyi, matupi athu amapanga zinthu zosafunikira, nthawi zina za poizoni. Chifukwa chake, matupi athu ali ndi njira yodabwitsa kwambiri yosefera poizoni wosafunikirayu ndikunyamula zinthu zabwino m'thupi lonse. Koma, chimachitika ndi chiyani ngati pali kufooka mu njira iyi ya 'fyuluta'? Imeneyi ndi imodzi mwa nkhani zofunika kwambiri zomwe tikambirane lero.

Kodi Urea Cycle ndi chiyani? Tiyeni timvetse mosavuta!

Ganizirani za kayendedwe ka urea ngati njira yosefera yomwe imachotsa poizoni m'thupi lathu. Imathandiza kuchotsa zinthu zovulaza m'thupi lathu ndikunyamula zinthu zothandiza m'thupi lonse.

Njira imeneyi imayamba titadya. Mapuloteni omwe ali muzakudya zomwe timadya amasweka mkati mwa matupi athu kukhala ma amino acid . Ma amino acid awa ndi mayunitsi oyambira a mapuloteni. Monga momwe njerwa zimafunikira pomanga nyumba, ma amino acid awa ndi ofunikira pomanga minofu, kunyamula zakudya, komanso kusunga ziwalo zikugwira ntchito bwino.

Tsopano, puloteni iyi ikagayidwa, mpweya wotchedwa ammonia umapangidwa ngati zinyalala. Ammonia iyi ndi poizoni kwambiri m'thupi lathu. Chifukwa chake, kuti tichotse ammonia yoopsa iyi, ma enzyme m'thupi lathu - kutanthauza mapuloteni apadera omwe amachita zinthu za mankhwala - amasintha ammonia iyi kukhala chinthu chopanda vuto chotchedwa urea m'chiwindi. Urea iyi ili ndi ma amino acid ena angapo pamodzi ndi ammonia:

• Arginine
• Ornithine
• Citrulline

Kenako, ma enzyme amenewa amanyamula urea kudzera m'magazi kupita ku impso. Gawo lomaliza la urea ndi kutulutsa urea mu mkodzo wathu. Umu ndi momwe urea imagwirira ntchito, mwachidule.

Ndiye, kodi vuto la urea cycle ndi chiyani?

Matenda a Urea Cycle Disorder (UCD) ndi gulu la matenda omwe njira yotumizira urea m'thupi lonse, monga tafotokozera kale, sigwira ntchito bwino. Izi nthawi zambiri zimachitika chifukwa cha kusowa kapena kusowa kwa mapuloteni kapena enzyme yofunikira pa njirayi.

Imeneyi ndi matenda a majini , zomwe zikutanthauza kuti ndi chinthu chomwe chimapezeka kuyambira kubadwa. Madokotala amachitcha kuti Inborn Error of Metabolism . Izi zimapangitsa kuti ammonia woopsa azisonkhana m'magazi mwathu. Izi zimatchedwa Hyperammonemia . Matendawa ali ndi zotsatira zoyipa kwambiri pa thupi lathu, makamaka ubongo ndi ziwalo zina .

Kodi pali mitundu ina ya matenda a urea cycle?

Inde, pali matenda asanu ndi atatu odziwika bwino a urea cycle. Chilichonse mwa matenda amenewa chimayamba chifukwa cha kusowa kwa enzyme kapena mapuloteni enaake omwe amafunikira pa urea cycle:

• Kusowa kwa N-acetylglutamate synthase (NAGS)
• Kusowa kwa Carbamoylphosphate synthetase I (CPS1)
• Kusowa kwa Ornithine transcarbamylase (OTC)
• Kusowa kwa Argininosuccinate synthase 1 (ASS1) kapena Citrullinemia mtundu I
• Kusowa kwa Citrin kapena Citrullinemia mtundu II
• Kusowa kwa Argininosuccinic lyase (ASL)
• Kusowa kwa Arginase (ARG)
• Kusowa kwa Ornithine translocase

Ngakhale izi zingamveke ngati zasayansi pang'ono, tanthauzo lililonse mwa izi ndilakuti pali vuto pa sitepe inayake mu urea cycle.

Ndani angadwale vutoli?

Uwu ndi matenda a majini omwe angakhudze aliyense. Ana obadwa kumene amatha kupezeka ndi mayeso a magazi a Universal Newborn Screening Blood Tests, omwe amachitika pasanathe masiku angapo kuchokera pamene anabadwa. Komabe, nthawi zina zizindikiro zimawonekera mtsogolo. Pankhaniyi, akuluakulu amathanso kupezeka ndi matendawa.

Kodi izi ndi zinthu zomwe zimachokera ku mibadwomibadwo?

Inde, kusowa kwa urea cycle ndi vuto lobadwa nalo . Nthawi zambiri, kuti mukhale ndi vutoli, muyenera kulandira majini kuchokera kwa amayi ndi abambo anu. Izi zimatchedwa autosomal recessive transmission. Mitundu ina imaperekedwa kwa ana anu mutatenga pakati, yolumikizidwa ndi chromosome yogonana. Izi zimatchedwa X-linked transmission.

Kodi vutoli ndi lofala bwanji?

Ku United States, akuti vutoli limakhudza munthu m'modzi pa anthu 35,000. Ngakhale kuti ziwerengero zenizeni sizikupezeka ku Sri Lanka, vutoli limaonedwa kuti ndi lachilendo.

Kodi zizindikiro za kusowa kwa urea m'thupi ndi ziti?

Zizindikiro zoyamba za vutoli nthawi zambiri zimaonekera munthu akangobadwa. Komabe, zizindikirozi zimatha kuonekera munthu ali ndi zaka zilizonse. Onani ngati zizindikirozi zikumveka zachilendo kwa inu:

• Kugona, kutopa kwambiri (kutopa)
• Kulira pafupipafupi ndi kusakhazikika kwa makanda (Kusokonezeka kwa makanda)
• Kusanza kapena kusanza
• Sindingathe kudya kapena kudyetsa
• Kupuma mofulumira kwambiri kapena pang'onopang'ono kwambiri
• Kusokonezeka, kutaya chidziwitso

Zizindikirozi zimachitika chifukwa cha kuchuluka kwa ammonia m'magazi (Hyperammonemia). Zizindikirozi zimatha kuyambira zofatsa mpaka zazikulu . Mutha kuwonanso zinthu monga:

• Mavuto okhudzana ndi kukula kwa chidziwitso ndi mavuto a nzeru
• Kusintha kwa khalidwe
• Kuchedwa kukula - Izi zikutanthauza kuti kukula kwa mwana sikoyenera msinkhu wake.
• Kuchulukana kwa madzi m'thupi mozungulira ubongo (Cerebral Edema)
• Kuuma kwa minofu, kugwedezeka (Spasticity)
• Matenda a khunyu, khunyu
• Mkhalidwe wa chikumbumtima, kukomoka

Chofunika: Zizindikiro zomwe zimakhudza ubongo zimatha kupha anthu, choncho ndikofunikira kupeza upangiri wa dokotala nthawi yomweyo ngati muli ndi zizindikirozi.

Kodi chifukwa chake ndi chiyani?

Monga tanenera kale, kusowa kwa urea cycle kumachitika chifukwa cha kusintha kwa majini . Mtundu uliwonse womwe takambirana kale umachitika chifukwa cha kusintha kwa majini kosiyana:

• Kusowa kwa N-acetylglutamate synthase: kusintha kwa majini a NAGS .
• Kusowa kwa Carbamoylphosphate synthetase I: kusintha kwa majini a CPS1 .
• Kusowa kwa Ornithine transcarbamylase: kusintha kwa majini a OTC .
• Kusowa kwa Argininosuccinate synthase 1: kusintha kwa majini a ASS1 .
• Kusowa kwa citrin: Kusintha kwa majini a SLC25A13 .
• Kusowa kwa Argininosuccinic lyase: kusintha kwa majini a ASL .
• Kusowa kwa Arginase: Kusintha kwa majini a ARG .
• Kusowa kwa Ornithine translocase: kusintha kwa majini a SLC25A15 .

Majini amenewa ndi omwe amapanga mapuloteni ndi ma enzyme ofunikira kuti anyamule urea m'thupi lonse. Pakachitika kusintha kwa majini, thupi silipanga mapuloteni kapena ma enzyme okwanira. Kenako, thupi silingathe kuchotsa ammonia woopsa, womwe umadzaza m'magazi ndi kuyambitsa zizindikiro.

Kodi vutoli limapezedwa bwanji?

Dokotala wanu adzayamba wafunsa za zizindikiro zanu, adzakuyezani thupi, ndikulemba mbiri yonse ya matenda anu. Kenako, angakufunseni kuti muyese magazi kapena mkodzo kuti atsimikizire vutoli.

Ndi mayeso ati omwe akuchitidwa pa izi?

• Kusanthula kwa amino acid: Chitsanzo cha magazi kapena mkodzo wanu chimayesa kuchuluka kwa amino acid m'thupi lanu.
• Kufufuza Chiwindi: Kachidutswa kakang'ono kwambiri ka chiwindi kamatengedwa ndikuyang'aniridwa pogwiritsa ntchito maikulosikopu kuti awone ngati pali ma enzymes okhudzana ndi vutoli komanso momwe amagwirira ntchito.
• Kuyezetsa Majini: Kuyezetsa magazi kumatengedwa kuti kuone ngati pali kusintha kwa majini komwe kungayambitse zizindikiro zanu.

Kodi izi zimachiritsidwa bwanji?

Cholinga chachikulu chochiza matenda a urea cycle ndi kuchepetsa kuchuluka kwa ammonia m'magazi. Izi zitha kuchitika mwa:

• Kudya zakudya zokhala ndi mapuloteni ochepa.
• Kuyeretsa magazi: Njira yogwiritsira ntchito pochotsa poizoni m'magazi. Izi zimatchedwanso hemodialysis .
• Kugwiritsa ntchito mankhwala: Mankhwala monga Sodium Phenylacetate ndi Sodium Benzoate (monga Ammonul® ) amathandiza kuchotsa ammonia m'magazi.
• Kumwa Zakudya Zowonjezera za Amino Acid: Zakudya zowonjezera monga Arginine kapena Citrulline zimathandiza thupi kumaliza urea.

Pa milandu yoopsa kwambiri ya hyperammonemia, kuikidwa chiwindi kungakhale kofunikira.

Musanayambe kulandira chithandizo, lankhulani ndi dokotala wanu za zotsatirapo zoyipa za mankhwala ndi njira zatsopano. Komanso, uzani dokotala wanu za mankhwala ena aliwonse kapena zowonjezera zomwe mukumwa pakadali pano. Izi zingakuthandizeni kupewa zotsatirapo zoyipa zomwe simukuzifuna.

Ngati muli ndi vuto la urea cycle, ndi zakudya ziti zomwe muyenera kupewa?

Zakudya zokhala ndi mapuloteni ochepa ndiye njira yabwino kwambiri yothetsera vutoli. Izi zili choncho chifukwa chakuti mapuloteni omwe ali mu chakudya chomwe timadya akaphwanyika, ma amino acid amapangidwa, zomwe zimapangitsa ammonia. Munthu amene ali ndi vuto la urea cycle sangathe kuchotsa ammonia mwachibadwa. Choncho, kudya zakudya zokhala ndi mapuloteni ochepa kungachepetse chiopsezo cha ammonia kusonkhana m'magazi.

Nazi zina mwa zakudya zazikulu zokhala ndi mapuloteni zomwe muyenera kuchepetsa pa zakudya zanu:

• Nsomba
• Nkhuku
• Mazira
• Ng'ombe
• Mitundu ya nyemba
• Tofu kapena zakudya zomwe zili ndi soya

Komabe, popeza mapuloteni ndi ofunikira m'thupi lathu, kuwachotsa kwathunthu kumatha kukhala ndi zotsatirapo zoyipa, monga kukula mochedwa. Chifukwa chake, dokotala wanu angakutumizireni kwa katswiri wazakudya kapena katswiri wazakudya . Angakuthandizeni kuwongolera kuchuluka kwa mapuloteni omwe mumadya. Nthawi zina, dokotala wanu angakulimbikitseninso kumwa mavitamini, mchere, kapena amino acid kuti muchepetse kusowa kwa zakudya komwe kumachitika chifukwa cha kuchepa kwa mapuloteni.

Kodi mwana wobadwa kumene angayamwitsidwe ngati ali ndi vutoli?

Mwana wanu amalandira mapuloteni kuchokera ku mkaka wa m'mawere. Ngakhale kuti mutha kuyamwitsa, dokotala wanu nthawi zambiri amawunika momwe amakhudzira mwana wanu. Ngati mukufuna kuchepetsa kudya mapuloteni a mwana wanu, dokotala wanu angakulangizeni kuti mupatse mwana wanu mkaka wapadera wa khanda m'malo mwa mkaka wa m'mawere.

Kodi vutoli lingapewedwe?

Uwu ndi matenda a majini ndipo sungapewedwe. Ngati mukukonzekera kutenga pakati ndipo mukufuna kudziwa zoopsa zokhala ndi mwana wokhala ndi matenda a majini, lankhulani ndi dokotala wanu za upangiri wa majini .

Kodi munthu amene ali ndi vuto la urea cycle angakhale ndi chiyembekezo chotani?

Dokotala wanu akangozindikira vutoli, amayamba kulandira chithandizo chochepetsa kuchuluka kwa ammonia m'magazi. Kwa makanda obadwa kumene, chithandizo chidzayamba nthawi yomweyo atangobadwa kuti apewe mavuto. Chithandizo chikayamba, dokotalayo adzayang'anira kuchuluka kwa ammonia m'magazi mpaka atabwerera pamlingo wabwino.

Vutoli limafuna kuyang'aniridwa kwa moyo wonse komanso kudya zakudya zopanda mapuloteni ambiri . Kudya mapuloteni ambiri kungayambitse zizindikiro zobwereranso.

Ngati hyperammonemia ikula kwambiri, ingayambitse kuwonongeka kwa ubongo kosatha, chikomokere, kapena imfa. Chifukwa chake, lankhulani ndi dokotala wanu za momwe mungathanirane ndi vuto lanu kapena la mwana wanu kuti mupewe mavuto awa omwe angakupheni.

Kodi chiyembekezo cha kuchira mu mkhalidwe uwu ndi chotani?

Kawonedwe kanu ka zinthu kamadalira kuopsa kwa zizindikiro zanu. Ngati mwapezeka msanga, mwalandira chithandizo, komanso mwathandizidwa pa moyo wanu wonse, moyo wanu ungakhale wabwinobwino. Komabe, ngati simunalandire chithandizo kapena simunapeze chithandizo, ukhoza kupha.

Kodi ndiyenera kupita kwa dokotala liti?

Ngati muli ndi zizindikiro za vutoli, makamaka ngati mukutopa kwambiri kapena simungathe kudya , pitani kwa dokotala.

Pamene mwana wanu akukula, ndikofunikira kuyang'ana ngati akukwaniritsa zofunikira zake pakukula . Ndiko kuti, ngati akuchita zinthu zogwirizana ndi msinkhu wake. Apo ayi, pitani kwa dokotala.

Ngati inu kapena mwana wanu ali ndi khunyu kapena akuvutika kupuma, pitani kuchipatala mwamsanga.

Ndi mafunso ati omwe ndiyenera kufunsa dokotala wanga?

• Kodi ndingathe bwanji kusamalira vuto la mwana wanga?
• Kodi ndiyenera kupita kwa katswiri wa zakudya?
• Kodi zotsatirapo zake ndi ziti?
• Ndi zakudya ziti zomwe ndiyenera kusiya?

Ndizachibadwa kukhala ndi nkhawa mukazindikira kuti inu kapena mwana wanu ali ndi vutoli losazolowereka la majini. Dokotala wanu angakuthandizeni kuthana ndi vutoli. Mwa kudya zakudya zopanda mapuloteni ambiri, mutha kuchepetsa momwe vutoli limakhudzira thupi lanu. Izi zingathandize kuchepetsa zizindikiro ndikukuthandizani kumva bwino. Ngati mukumva kutopa nthawi zonse, mukuvutika kudya, kapena mukusintha khalidwe lanu, onetsetsani kuti mwawonana ndi dokotala.

Zinthu zofunika kuzikumbukira (Uthenga Wopita Nawo Kunyumba)

Chabwino, takambirana zambiri za Urea Cycle Disorder. Mwachidule, nazi zinthu zingapo zomwe muyenera kukumbukira:

• Imeneyi ndi matenda a majini: zikutanthauza kuti ndi chinthu chomwe mumabadwa nacho. Chomwe chimachitika apa ndi chakuti matupi athu sangathe kuchotsa bwino mankhwala oopsa otchedwa ammonia.
• Ndikofunikira kwambiri kuzindikira msanga:Makamaka kwa makanda obadwa kumene. Ngati muwona zizindikiro, funsani upangiri wa dokotala nthawi yomweyo.
• Pali mankhwala: Chofunika kwambiri ndikuwongolera kuchuluka kwa ammonia m'magazi. Izi zitha kuchitika ndi zakudya zopanda mapuloteni ambiri, mankhwala, ndi mankhwala ena.
• Kuyang'anira moyo wonse ndikofunikira: Ngati kuyendetsedwa bwino, anthu ambiri akhoza kukhala ndi moyo wabwinobwino.
• Tsatirani uphungu wa dokotala: Ndikofunikira kwambiri kuti thanzi lanu litsatire uphungu womwe dokotala wanu komanso katswiri wa zakudya wakupatsani molondola.

Musachite mantha. Chofunika kwambiri ndikudziwa za vutoli ndikupeza thandizo loyenera lachipatala. Ngati muli ndi mafunso ena, musaope kulankhula ndi dokotala wanu.

Mzunguliro wa urea , ammonia, matenda a majini, kagayidwe ka mapuloteni, hyperammonemia, matenda a ana, matenda a kagayidwe kachakudya