Kodi muli ndi ammonia wochuluka m'magazi mwanu? Tiyeni tiphunzire za vuto loopsa la hyperammonemia!

Pali zinthu zambiri zomwe zimachitika m'thupi mwathu, sichoncho? Nthawi zina, pamene njirazi sizikuyenda bwino, mavuto akuluakulu amatha kuchitika. Mwachitsanzo, hyperammonemia ndi vuto lalikulu lomwe limachitika pamene zinyalala zotchedwa ammonia zikuwonjezeka m'magazi mwathu. Ndikofunikira kwambiri kudziwa izi chifukwa zimatha kukhudza kwambiri moyo wanu ngati sizisamalidwa bwino.

Kodi Hyperammonemia ndi chiyani?

Mwachidule, hyperammonemia imachitika pamene kuchuluka kwa ammonia m'magazi mwanu kuli kokwera kwambiri. Ammonia, kapena NH3, ndi zinyalala zomwe zimapangidwa m'matumbo mwathu tikamagaya mapuloteni omwe timadya. Nthawi zambiri, ammonia iyi imapita ku chiwindi chathu ndipo imakonzedwa pamenepo. Timatcha njira iyi kuti urea cycle . Kudzera mu cycle iyi, ammonia imasandulika kukhala chinthu chopanda poizoni chotchedwa urea ndipo imatulutsidwa mu mkodzo. Komabe, ngati china chake chalakwika ndi urea cycle iyi, kapena ngati chiwindi sichingathe kukonza ammonia iyi bwino, ammonia imayamba kusonkhana m'magazi. Kuwonjezeka kwa ammonia m'magazi kumeneku ndi koopsa kwambiri ku Central Nervous System (CNS) yathu, yomwe ndi ubongo ndi msana. Ichi ndichifukwa chake hyperammonemia ndi vuto lomwe limafuna chithandizo chamankhwala mwachangu ndipo lingakhale loopsa pamoyo .

Ndani angakulitse izi kwambiri?

Matendawa, otchedwa hyperammonemia, angakhudze makanda obadwa kumene, ana aang'ono, ndi akuluakulu.

• Pakati pa akuluakulu, pafupifupi 90% ya omwe ali ndi vutoli ndi omwe ali ndi matenda a chiwindi .
• Makanda obadwa kumene amatha kukhala ndi vutoli chifukwa amabadwa ndi vuto la urea cycle (congenital urea cycle disorder) . Izi ndi matenda a majini.
• Komanso, kulephera kwakukulu kwa chiwindi ndi matenda obadwa nawo a kagayidwe kachakudya kungayambitse hyperammonemia mwa ana aang'ono.

N'zovuta kunena momwe izi zimachitikira kawirikawiri, chifukwa zimatha kuchitika chifukwa cha zinthu zosiyanasiyana. Koma ofufuza akuti matenda a urea cycle, omwe ndi amodzi mwa omwe amachititsa, amakhudza mwana m'modzi mwa ana 250,000 obadwa ku United States ndi mwana m'modzi mwa ana 440,000 obadwa padziko lonse lapansi.

Kodi ndi zifukwa ziti zomwe zimayambitsa hyperammonemia?

Pakhoza kukhala zifukwa zingapo za izi. Zifukwa izi zimatha kusintha ndi ukalamba. Koma kawirikawiri, zifukwa ziwiri zazikulu ndi mavuto a chiwindi ndi matenda a urea cycle (UCDs) .

Chifukwa cha mavuto a chiwindi

Chiwindi chathu ndicho chiwalo chachikulu chomwe chimasintha ammonia kukhala urea. Choncho ngati chiwindi chawonongeka kapena chadwala, sichingathe kukonza ammonia bwino. Apa ndi pamene ammonia imasonkhana m'magazi. Nazi matenda ena okhudzana ndi chiwindi omwe angayambitse hyperammonemia:

• Matenda a Chiwindi : Chiwindi chikawonongeka , mphamvu yake yogwiritsira ntchito ammonia imakhala yochepa. Izi zimachitika kwambiri pa matenda aakulu a chiwindi, koma ngakhale kwa anthu omwe ali ndi matenda a chiwindi okhazikika, kuchuluka kwa ammonia nthawi zina kumatha kukwera mwadzidzidzi, mwachitsanzo, ngati china chake chachitika m'mimba kapena m'matumbo ( kutuluka magazi m'mimba) kapena ngati pali kusalinganika kwa electrolyte . Ichi ndiye chifukwa chachikulu cha kuchuluka kwa ammonia mwa akuluakulu ndi ana.
• Matenda a chiwindi: Izi zimachitika pamene chiwindi chawonongeka ndipo sichingathe kukonza bwino ammonia. Ammonia imasonkhana m'magazi ndipo imapita ku ubongo. Izi zingayambitse chisokonezo, kusokonezeka , komanso ngakhale chikomokere. Nthawi zina zimatha kupha.
• Matenda a chiwindi: Matenda a chiwindi ndi m'malo mwa minofu ya chiwindi yathanzi ndi minofu ya zipsera. Izi zingayambitse chiwindi kusagwira ntchito bwino ndipo zingayambitse hyperammonemia. Matenda a chiwindi ndi matenda osatha a chiwindi.
• Kulephera kwa chiwindi mwachangu: Apa ndi pamene chiwindi chimasiya kugwira ntchito mwadzidzidzi. Zingayambitsidwe ndi matenda ndi zinthu zosiyanasiyana. Mwachitsanzo, kuvulala kwa chiwindi chifukwa cha mankhwala chifukwa cha mankhwala ena, monga acetaminophen , kumabweretsa 50% ya milandu yonse ya kulephera kwa chiwindi mwachangu ku United States. Kumabweretsa 64% ya milandu ya hyperammonemia mwa ana.
• Kuchepa kwa magazi kupita ku chiwindi: Ngati magazi sakuyenda bwino kupita ku chiwindi, thupi silingathe kutumiza ammonia ku chiwindi kuti chikonzedwe. Ngakhale zili choncho, ammonia imachulukana m'magazi.
• Matenda a Reye:Imeneyi ndi vuto losowa kwambiri. Limakhudza magazi, ubongo, ndi chiwindi. Nthawi zambiri limayambitsa kuchuluka kwa ammonia m'magazi komanso kuchepa kwa shuga m'magazi. Nthawi zambiri limakhudza ana aang'ono ndi achinyamata omwe akuchira matenda opatsirana ndi mavairasi monga nkhupakupa kapena chimfine/fuluwenza ndipo adamwa aspirin chifukwa cha zizindikiro zimenezo. Chifukwa chenicheni cha matenda a Reye sichikudziwika. Komabe, chifukwa cha chiopsezochi, aspirin sayenera kuperekedwa kwa ana aang'ono ndi achinyamata pokhapokha ngati dokotala walangiza.

Chifukwa cha Matenda a Urea Cycle (UCDs)

Monga tafotokozera kale, kayendedwe ka urea ndi njira yomwe ammonia woopsa amasandukira kukhala urea ndikutuluka mumkodzo. Kayendedwe kameneka kali ndi masitepe angapo, omwe amafunikira mtundu wosiyana wa enzyme. Ma enzyme awa ndi awa:

• N-acetyl-glutamate synthase (NAGS)
• Carbamoyl phosphate synthetase (CPS)
• Ornithine transcarbamylase (OTC)
• Argininosuccinate synthetase (AS)
• Argininosuccinic acid lyase (ASL)
• Arginase (ARG1)

Ngati imodzi mwa ma enzyme amenewa ilibe mphamvu, urea cycle sigwira ntchito bwino. Ammonia imachulukana m'magazi. Mtundu uwu wa kusowa kwa ma enzyme umatchedwa urea cycle disorder (UCD). Ma UCD angayambitse hyperammonemia, yomwe ingakhale yoopsa kapena yosatha. Ma UCD ndi matenda obadwa nawo. Makanda obadwa kumene omwe ali ndi kusowa kwathunthu kwa urea cycle enzyme nthawi zambiri amakhala ndi hyperammonemia mkati mwa maola 24 mpaka 72 kuchokera pamene anabadwa. Kaya kusowa kwa enzyme ndi kochepa kapena pang'ono, ammonia imawonjezeka nthawi iliyonse m'moyo, panthawi ya matenda, kupsinjika maganizo, kapena zochitika zina zopsinjika. Ma UCD amenewa ndi omwe amachititsa 23% ya milandu ya hyperammonemia yoopsa mwa ana aang'ono omwe akudwala kwambiri.

Zifukwa zina

Kupatula izi, pakhoza kukhala zifukwa zina zingapo:

• Kulephera kwa impso (impso): Ngati impso sizingathe kutulutsa urea bwino chifukwa cha kulephera kwa impso, zingayambitse ammonia kudziunjikira m'magazi.
• Matenda ena a magazi: Hyperammonemia ingayambitsidwenso ndi matenda a magazi monga multiple myeloma ndi acute leukemia.
• Matenda ena: tizilombo toyambitsa matenda tomwe timatulutsa urease monga Proteus mirabilis , Escherichia coli (E. coli) ndi KlebsiellaMatenda a bakiteriya monga streptococci, makamaka kwa ana omwe ali ndi vuto lobadwa nalo la mkodzo komanso kwa akuluakulu omwe ali ndi vuto la mkodzo chifukwa cha matenda a mkodzo (UTIs), angayambitse hyperammonemia yoopsa.

Kodi zizindikiro za Hyperammonemia ndi ziti?

Zizindikiro zimatha kusiyana kwambiri kutengera momwe matendawa alili ofatsa kapena ovuta, komanso zaka zomwe amayamba.

Zizindikiro zochepa zomwe zimapezeka kwa ana ndi akuluakulu

• Kusanza ndi kusanza
• Kupweteka m'mimba
• Kukwiya pafupipafupi
• Mutu (kupweteka mutu)
• Kuvuta ndi kulinganiza, kugwirizana, ndi kulankhula (ataxia)
• Kusintha kwa khalidwe

Zizindikiro zina zofatsa zomwe zimakhudza ana okha

• Kulephera kukula bwino
• Kufooka kwa minofu (hypotonia)
• Kuchedwa kwa chitukuko cha mitsempha

Zizindikiro zoopsa mwa ana ndi akuluakulu

Izi ndi zizindikiro zoopsa kwambiri. Ngati muli ndi chilichonse mwa izi, muyenera kupeza upangiri wa dokotala nthawi yomweyo.

• Kusokonezeka ndi kusokonezeka maganizo
• Kusintha kwa maganizo
• Kugona tulo topitirira muyeso
• Kusintha kwa chidziwitso
• Kugwidwa ndi khunyu
• Kupuma mofulumira (Hyperventilation)
• Chikomokere

Chenjezo: Ngati inu kapena munthu wina wapafupi nanu ali ndi zizindikirozi, chonde imbani 911 nthawi yomweyo, kapena pitani ku dipatimenti yothandiza anthu mwadzidzidzi kuchipatala chapafupi nanu. Kuchuluka kwa ammonia m'magazi kumaika moyo pachiswe ndipo kumafuna chithandizo chamankhwala mwachangu!

Zizindikiro mwa makanda obadwa kumene

Ngati mwana wakhanda wakhudzidwa ndi hyperammonemia, zizindikiro zotsatirazi nthawi zambiri zimawonekera mkati mwa maola 24 mpaka 72 kuchokera pamene anabadwa:

• Kukwiya pafupipafupi, kulira pafupipafupi
• Kusanza
• Kutopa
• Kugwidwa ndi khunyu
• Kung'ung'udza pamene mukupuma
• Kupuma mofulumira (Hyperventilation)

Chofunika: Ngati mwana wanu akuwonetsa zizindikiro izi, imbani dokotala nthawi yomweyo ngati muli kuchipatala. Ngati muli kunyumba, imbani 911 nthawi yomweyo, kapena mupite naye kuchipatala chapafupi. Ichi si chinthu chochedwetsa.

Kodi madokotala amazindikira bwanji izi?

Madokotala nthawi zambiri amakayikira kuchuluka kwa ammonia m'magazi poyesa kuchuluka kwa ammonia m'magazi.

• Kwa makanda osakwana mwezi umodzi, ngati kuchuluka kwa ammonia m'magazi kuli koposa 80 micromol/lita (80 micromol/L).
• Kwa ana okulirapo, ngati ndi oposa 55 micromol/lita (55 micromol/L).
• Kwa akuluakulu, ngati ndi oposa 30 micromol/lita (30 micromol/L).

Muyeso uwu (micromol/L) ndi njira yoyezera kuchuluka kwa ammonia m'magazi.

Ndi mayeso otani omwe amachitidwa kuti azindikire izi?

Kuyezetsa kwakukulu ndi kuyezetsa magazi komwe kumayesa kuchuluka kwa ammonia m'magazi mwanu. Ngati kuchuluka kwa ammonia m'magazi anu kuli kokwera, dokotala wanu angachite mayeso ena kuti apeze chomwe chikuyambitsa. Mwachitsanzo, kuyezetsa magazi kuti aone momwe chiwindi chanu chimagwirira ntchito komanso momwe impso zanu zimagwirira ntchito , komanso kuyezetsa mkodzo . Popeza hyperammonemia imatha kuwononga dongosolo la mitsempha yapakati ndikuyika moyo pachiwopsezo, dokotala wanu angachitenso mayeso ojambulira zithunzi, monga CT (computed tomography) scan kapena MRI (magnetic resonance imaging) scan, kuti aone ngati pali zovuta zomwe zimakhudza ubongo.

Kodi mankhwala a hyperammonemia ndi ati?

Chithandizo chimadalira chomwe chimayambitsa. Mwachitsanzo, mwa munthu wamkulu, chimachitika chifukwa cha matenda a chiwindi kapena hepatic encephalopathy, kapena mwa mwana wakhanda, chimachitika chifukwa cha urea cycle disorder (UCD). Mu acute hyperammonemia, cholinga chachikulu ndikuchepetsa kuchuluka kwa ammonia m'magazi ndikuletsa mavuto enaake monga kutupa kwa ubongo ndi kuwonjezeka kwa kuthamanga kwa magazi kuzungulira ubongo (intracranial hypertension).

• Ngati mwana wakhanda ali ndi hyperammonemia, madokotala amasiya kuwapatsa mapuloteni (chifukwa ammonia imapangidwa mapuloteni akagayidwa) m'malo mwake amawapatsa shuga, yomwe ndi yankho la shuga, kuti apereke ma calories. Adzagwiritsanso ntchito njira yotchedwa hemodialysis . Izi zikuphatikizapo kuyeretsa magazi a mwana ndikuchotsa ammonia kudzera mu makina oyeretsera ndi fyuluta yapadera (monga impso yopangira).
• Anthu omwe ali ndi vuto la kuchepa kwa enzyme ya urea cycle (UCD) omwe ali ndi hyperammonemia chifukwa cha kupsinjika, monga stress-induced hyperammonemia, amapatsidwanso protein withdrawal ndi glucose ngati ma calories. Hemodialysis imachitika pokhapokha ngati kuchuluka kwa ammonia m'magazi awo sikuchepa mkati mwa maola ochepa kuchokera pamene chithandizo choyamba chayamba.
• Chithandizo cha matenda a chiwindi otchedwa hepatic encephalopathy ndi kuchepetsa kupanga kwa ammonia m'matumbo. Chithandizo choyamba ndi mankhwala omwa okhala ndi lactulose ndi lactitol . Shuga awa amachepetsa kupanga ndi kuyamwa kwa ammonia m'matumbo.

Madokotala angalimbikitse zakudya zowonjezera monga izi kuti zithandize anthu omwe ali ndi vuto la urea cycle kuchepetsa kuchuluka kwa zizindikiro zawo:

• L-carnitine
• L-ornithine-L-aspartate
• Arginine

Kodi pali njira zopewera vutoli?

Popeza pali zifukwa zambiri zomwe zimayambitsa hyperammonemia, si matenda onse omwe angapewedwe. Komabe, mutha kuchitapo kanthu kuti mupewe mitundu ina ya matenda a chiwindi, makamaka omwe akukhudzana ndi zakudya zanu komanso moyo wanu. Ngati muli pachiwopsezo cha matenda a chiwindi, dokotala wanu angakulangizeni kuti musinthe moyo wanu:

• Palibe vuto kupewa kapena kuchepetsa kumwa mowa.
• Pewani zakudya ndi zakumwa zomwe zili ndi mafuta a trans kapena madzi a chimanga okhala ndi fructose yambiri.
• Kuti mupewe kuwonongeka kwa chiwindi, samalani kwambiri mukamagwiritsa ntchito mankhwala olembedwa ndi dokotala komanso omwe amagulitsidwa kunja kwa ofesi ya dokotala.
• Kuchita masewera olimbitsa thupi nthawi zonse .
• Kuchepetsa kudya nyama yofiira.

Pofuna kupewa matenda a Reye's syndrome, omwe amayambitsa hyperammonemia mwa ana ndi achinyamata, musapatse ana aspirin ngati ali ndi zizindikiro za matenda opatsirana ndi kachilombo (monga chimfine kapena nthenda ya nkhuku) pokhapokha ngati dokotala wakuuzani. Matenda a urea cycle defects (UCDs) ndi osowa, koma pali mayeso a majini kuti muwone ngati muli ndi majini omwe amayambitsa matendawa. Lankhulani ndi dokotala wanu za izi.

Kodi chiyembekezo cha matendawa ndi chiyani?

Chiyembekezo cha hyperammonemia, ndiko kuti, kuthekera kochira, chimadalira zinthu zingapo:

• Kodi kuchuluka kwa ammonia m'thupi lanu kuli kotani?
• Kodi kuchuluka kwa ammonia kwakhala kwa nthawi yayitali bwanji?
• Kodi n’chiyani chimayambitsa hyperammonemia?

Kawirikawiri, chiyembekezo cha hyperammonemia ndi choipa. Ngati sichinachiritsidwe kapena kuchiritsidwa mochedwa, kutupa kwa ubongo kosatha kumagwirizanitsidwa ndi chiwerengero chachikulu cha imfa. Mwatsoka, ngakhale mwana wakhanda atachiritsidwa mwachangu kapena molimba mtima bwanji ndi hyperammonemia yoopsa, palibe chitsimikizo chakuti zotsatira zake zidzakhala zabwino. Ku United States, chiwerengero cha anthu omwe ali ndi vuto la urea cycle defects (UCDs) omwe ali ndi hyperammonemia ali aang'ono ndi pafupifupi 35%. Kwa iwo omwe ali ndi hyperammonemia ali aang'ono, chiwerengero cha anthu omwe ali ndi matenda a hyperammonemia ali aang'ono ndi pafupifupi 87%. Chiwerengero cha anthu omwe ali ndi matenda a chiwindi chachikulu ndi zaka zitatu omwe ali ndi matenda a hyperammonemia chifukwa cha hyperammonemia chanenedwa kuti ndi 42% ndi 23%, motsatana.

Kodi mavuto omwe angakhalepo chifukwa cha hyperammonemia ndi ati?

Ngati vutoli silichiritsidwa mwachangu, kuchuluka kwa ammonia m'thupi kumatha kuwononga mitsempha yapakati ndikuyambitsa mavuto omwe angawopseze moyo. Mavuto oterewa ndi awa:

• Kutupa kwa ubongo
• Kuwonjezeka kwa kuthamanga kwa magazi m'mitsempha ya ubongo (Intracranial hypertension)
• Kutupa kwa ubongo - Izi nthawi zambiri zimachitika chifukwa cha kutupa kwa ubongo ndi kuwonjezeka kwa kuthamanga kwa magazi kuzungulira ubongo.
• Chikomokere
• Imfa

Ngati munthu ali ndi vuto la hyperammonemia kwa nthawi yayitali, akhoza kukhala ndi vuto la maganizo komanso mavuto osatha a khalidwe ndi matenda amisala.

Kodi tiyenera kupita kwa dokotala liti?

Ngati inu kapena munthu amene mumamukonda ali ndi zizindikiro za hyperammonemia, imbani 911 nthawi yomweyo kapena pitani kuchipatala chapafupi. Izi siziyenera kuchedwetsedwa. Ngati muli ndi matenda a chiwindi kapena kusowa kwa enzyme ya urea cycle, ndikofunikira kwambiri kukaonana ndi dokotala nthawi zonse kuti muthane ndi vuto lanu ndikuwunika kuchuluka kwa ammonia m'magazi anu.

Hyperammonemia ndi vuto lalikulu lomwe lingayambitsidwe ndi zinthu zingapo. Ngati inu, mwana wanu, kapena mwana wanu muli ndi zizindikiro izi, funani thandizo nthawi yomweyo. Ngati muli ndi matenda a chiwindi, kapena ngati wina m'banja mwanu ali ndi matenda a urea cycle (UCDs), lankhulani ndi dokotala wanu za chiopsezo chanu chokhala ndi hyperammonemia. Alipo kuti akuthandizeni.

Pomaliza, kumbukirani izi.

Chabwino, nazi zina mwa zinthu zofunika kwambiri zomwe muyenera kukumbukira kuchokera pa zomwe takambirana:

• Hyperammonemia ndi kuchuluka koopsa kwa ammonia m'magazi. Izi zimawononga kwambiri ubongo wathu ndi dongosolo lathu la mitsempha.
• Pakhoza kukhala zifukwa zingapo zomwe zimayambitsa izi. Mavuto a chiwindi ndi matenda a urea cycle (UCDs) ndiye zifukwa zazikulu.
• Zizindikiro zimasiyana malinga ndi kuopsa kwa matendawa komanso zaka zake. Zitha kukhala zizindikiro zochepa monga nseru, kusanza, ndi mutu mpaka zizindikiro zoopsa monga chisokonezo, khunyu, ndi chikomokere. Ana obadwa kumene ayeneranso kuda nkhawa kwambiri ndi zizindikiro zawo.
• Ngati muli ndi zizindikiro zoopsa, muyenera kufunafuna upangiri wa dokotala nthawi yomweyo. Izi zitha kukhala za moyo kapena imfa.
• Chithandizo chimadalira chomwe chimayambitsa vutoli. Chithandizo chofulumira chingachepetse kuchuluka kwa ammonia ndikuwongolera zovuta zake.
• Ngakhale kuti zifukwa zina sizingapewedwe, zoopsa zina zingachepe mwa kukhala ndi moyo wathanzi komanso kusamalira chiwindi chanu .
• Kaya muli ndi matenda a chiwindi kapena wina m'banja mwanu ali ndi UCDs, ndikofunikira kuti muzipimidwa nthawi zonse ndi dokotala.

Musaiwale, mumadziwa bwino thanzi lanu. Ngati mukumva zosiyana kapena zachilendo, musaope kulankhula ndi dokotala. Hyperammonemia, ammonia, chiwindi, urea cycle, ubongo, zizindikiro, chithandizo