Ingabe une-ammonia eningi egazini lakho? Ake sifunde ngesimo esiyingozi se-hyperammonemia!

Kunezinto eziningi ezenzeka emizimbeni yethu, akunjalo? Ngezinye izikhathi, lapho lezi zinqubo zingasebenzi kahle, kungavela izinkinga ezinkulu. Isibonelo, i-hyperammonemia yisimo esibi esenzeka lapho umkhiqizo ongcolile obizwa ngokuthi i-ammonia ukhula egazini lethu. Kubaluleke kakhulu ukuqaphela lokhu ngoba kungaba nomthelela omkhulu empilweni yakho uma unganakekelwa kahle.

Kuyini i-Hyperammonemia?

Kalula nje, i-hyperammonemia iyenzeka lapho amazinga e-ammonia egazini lakho ephezulu ngendlela engavamile. I-Ammonia, noma i-NH3, iwumkhiqizo ongcolile okhiqizwa emathunjini ethu lapho sigaya amaprotheni esiwadlayo. Ngokuvamile, le ammonia iya esibindini sethu bese icutshungulwa lapho. Sibiza le nqubo ngokuthi umjikelezo we-urea . Ngalesi sijikelezo, i-ammonia iguqulwa ibe yinto engenangozi kangako ebizwa ngokuthi i-urea bese ikhishwa emchameni. Kodwa-ke, uma kukhona okungahambi kahle ngalo mjikelezo we-urea, noma uma isibindi singakwazi ukucubungula le ammonia kahle, i-ammonia iqala ukuqongelela egazini. Lokhu kwanda kwe-ammonia egazini kuyingozi kakhulu ku- Central Nervous System yethu (CNS) , okuyingqondo nomgogodla. Yingakho i-hyperammonemia iyisimo esidinga ukunakekelwa kwezokwelapha okusheshayo futhi singaba yingozi ngisho nokuphila .

Ubani ongakuthuthukisa kakhulu lokhu?

Lesi simo, esibizwa ngokuthi i-hyperammonemia, singathinta izinsana ezisanda kuzalwa, izingane ezincane kanye nabantu abadala.

• Phakathi kwabantu abadala, cishe ama-90% alabo abaphethwe yilesi simo yilabo abane- cirrhosis yesibindi .
• Izinsana ezisanda kuzalwa zingaba nalokhu ngoba zizalwa zinesici emjikelezweni we-urea (isifo somjikelezo we-urea esizalwa naso) . Lezi yizimo zofuzo.
• Futhi, ukwehluleka okukhulu kwesibindi kanye nezifo ze-metabolic ezizuzwe njengefa kungabangela i-hyperammonemia ezinganeni ezincane.

Kunzima ukusho ukuthi lokhu kuvame kangakanani, njengoba kungabangelwa yizici ezahlukahlukene. Kodwa abacwaningi balinganisela ukuthi ukuphazamiseka komjikelezo we-urea, okungenye yezimbangela, kuthinta ingane eyodwa kwezingu-250,000 ezizalwa e-United States kanye nengane eyodwa kwezingu-440,000 ezizalwa emhlabeni jikelele.

Yiziphi izimbangela ze-hyperammonemia?

Kungaba nezizathu eziningana zalokhu. Lezi zizathu zingashintsha ngokuya ngeminyaka. Kodwa ngokuvamile, izimbangela ezimbili eziyinhloko izinkinga zesibindi kanye nokuphazamiseka komjikelezo we-urea (ama-UCD) .

Ngenxa yezinkinga zesibindi

Isibindi sethu siyisitho esiyinhloko esiguqula i-ammonia ibe yi-urea. Ngakho-ke uma isibindi sonakele noma sinesifo, asikwazi ukucubungula i-ammonia kahle. Yilapho i-ammonia inqwabelana egazini. Nazi ezinye izimo ezihlobene nesibindi ezingabangela i-hyperammonemia:

• Isifo Sesibindi : Uma isibindi sonakele , ikhono laso lokucubungula i-ammonia lilinganiselwe. Lokhu kuvame kakhulu ezifweni zesibindi ezinzima, kodwa ngisho nakubantu abanesifo sesibindi esizinzile, amazinga e-ammonia ngezinye izikhathi angakhuphuka ngokuzumayo, isibonelo, uma kwenzeka okuthile esiswini noma emathunjini ( ukopha kwamathumbu) noma uma kukhona ukungalingani kwama-electrolyte . Lesi yimbangela eyinhloko yamazinga aphezulu e-ammonia kubantu abadala nasezinganeni.
• I-Hepatic encephalopathy : Lokhu kwenzeka lapho isibindi sonakele futhi singakwazi ukucubungula i-ammonia kahle. I-Ammonia inqwabelana egazini bese iya ebuchosheni. Lokhu kungabangela ukudideka, ukudideka , ngisho nokuquleka. Ngezinye izikhathi kungaba yingozi.
• I-Cirrhosis yesibindi: I-Cirrhosis iwukufaka esikhundleni sezicubu zesibindi ezinempilo ngezicubu zesibazi. Lokhu kungabangela ukuthi isibindi singasebenzi kahle futhi kungaholela ku-hyperammonemia. I-Cirrhosis yisifo sesibindi esingamahlalakhona.
• Ukwehluleka kwesibindi okubukhali: Yilapho isibindi siyeka ukusebenza ngokuzumayo. Kungabangelwa izifo nezimo ezahlukahlukene. Isibonelo, ukulimala kwesibindi okubangelwa izidakamizwa okubangelwa imithi ethile, njenge- acetaminophen , kubanga u-50% wazo zonke izimo zokwehluleka kwesibindi okubukhali e-United States. Kubanga u-64% wamacala e-hyperammonemia ezinganeni.
• Ukwehla kokugeleza kwegazi esibindini sakho: Uma igazi lingagelezi kahle esibindini sakho, umzimba awukwazi ukuthumela i-ammonia esibindini ukuze icutshungulwe. Ngisho nalapho, i-ammonia iyanqwabelana egazini.
• I-Reye's syndrome: IzimpawuLesi yisimo esingavamile kakhulu. Sithinta igazi, ubuchopho, nesibindi. Ngokuvamile sibangela amazinga aphezulu e-ammonia egazini kanye namazinga aphansi kashukela egazini. Ngokuvamile sithinta izingane ezincane kanye nentsha esilulama ezifweni ezibangelwa amagciwane njenge-chickenpox noma i-flu/influenza futhi esezithathe i-aspirin ngenxa yalezo zimpawu. Imbangela eqondile ye-Reye's syndrome ayaziwa. Kodwa-ke, ngenxa yale ngozi, i-aspirin akufanele inikezwe izingane ezincane kanye nentsha ngaphandle kokuthi kunconywe udokotela ngokuqondile.

Ngenxa yezinkinga zomjikelezo we-Urea (UCDs)

Njengoba sesixoxile ngaphambili, umjikelezo we-urea inqubo lapho i-ammonia enobuthi iguqulwa ibe yi-urea bese ikhishwa emchameni. Lo mjikelezo unezinyathelo eziningana, ngasinye sazo sidinga uhlobo oluhlukile lwe-enzyme. Lawa ma-enzyme yilawa:

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

Uma enye yalezi enzyme ingasebenzi kahle, umjikelezo we-urea awusebenzi kahle. I-Ammonia iyanda egazini. Lolu hlobo lokuntuleka kwe-enzyme lubizwa ngokuthi i-urea cycle disorder (UCD). Ama-UCD angabangela i-hyperammonemia, engaba yi-acute noma engamahlalakhona. Ama-UCD ayizimo zokuzalwa. Izinsana eziswele ngokuphelele i-enzyme yomjikelezo we-urea zivame ukuba ne-acute hyperammonemia zingakapheli amahora angama-24 kuya kwangu-72 kusukela zizalwa. Kungakhathaliseki ukuthi ukuntuleka kwe-enzyme kuncane noma kuyingxenye, ukunqwabelana kwe-ammonia kungenzeka nganoma yisiphi isikhathi empilweni, ngesikhathi sokugula, ukucindezeleka, noma ezinye izehlakalo ezicindezelayo. Lawa ma-UCD abangela ama-23% amacala e-acute hyperammonemia ezinganeni ezincane ezigula kakhulu.

Ezinye izizathu

Ngaphandle kwalokhu, kungase kube nezinye izizathu eziningana:

• Ukwehluleka kwezinso (izinso): Uma izinso zingakwazi ukukhipha i-urea kahle ngenxa yokwehluleka kwezinso, kungabangela ukuthi i-ammonia iqoqeke egazini.
• Izinkinga ezithile zegazi: I-Hyperammonemia ingabangelwa futhi yizinkinga zegazi ezifana ne-multiple myeloma kanye ne-acute leukemia.
• Izifo ezithile: izinto eziphilayo ezikhiqiza i-urease njenge- Proteus mirabilis , i-Escherichia coli (E. coli) kanye ne -KlebsiellaUkutheleleka ngamagciwane njenge-streptococci, ikakhulukazi ezinganeni ezinezinkinga zomchamo ezizalwa nazo kanye nakubantu abadala asebekhulile abanokugcinwa komchamo ngenxa yokutheleleka komgudu womchamo (UTIs), kungabangela i-hyperammonemia enzima.

Ziyini izimpawu ze-Hyperammonemia?

Izimpawu zingahluka kakhulu kuye ngokuthi isimo sincane noma sibi kangakanani, kanye nobudala esiqala ngabo.

Izimpawu ezincane ezivamile ezinganeni nakubantu abadala

• Isicanucanu nokuhlanza
• Ubuhlungu besisu
• Ukucasuka okuvamile
• Ikhanda elibuhlungu (ikhanda elibuhlungu)
• Ubunzima ngokulinganisela, ukuxhumanisa, kanye nokukhuluma (ataxia)
• Izinguquko zokuziphatha

Izimpawu ezingemnandi ezengeziwe ezithinta izingane kuphela

• Ukwehluleka ukuchuma
• Ubuthakathaka bemisipha (hypotonia)
• Ukulibaziseka kokuthuthukiswa kwe-neuro

Izimpawu ezinzima ezinganeni nakubantu abadala

Lezi izimpawu eziyingozi kakhulu. Uma unanoma yiziphi zalezi, kufanele ufune iseluleko sezokwelapha ngokushesha.

• Ukudideka nokudideka
• Ukushintshashintsha kwemizwa
• Ukulala ngokweqile
• Izinguquko engqondweni
• Ukuquleka
• Ukuphefumula okusheshayo (i-Hyperventilation)
• I-Coma

Isexwayiso: Uma wena noma othile oseduze nawe enalezi zimpawu, sicela ushayele u-911 ngokushesha, noma uye emnyangweni wezimo eziphuthumayo wesibhedlela esiseduze nawe. Amazinga aphezulu e-ammonia egazini asongela ukuphila futhi adinga ukunakekelwa kwezokwelapha okusheshayo!

Izimpawu ezinganeni ezisanda kuzalwa

Uma umntwana osanda kuzalwa ethintwa yi-hyperammonemia, lezi zimpawu ezilandelayo zivame ukuvela zingakapheli amahora angama-24 kuya kwangama-72 kusukela ezelwe:

• Ukucasuka okuvamile, ukukhala okuvamile
• Ukuhlanza
• Ubuthaka
• Ukuquleka
• Ukububula lapho uphefumula
• Ukuphefumula okusheshayo (i-Hyperventilation)

Okubalulekile: Uma ingane yakho ibonisa lezi zimpawu, shayela udokotela ngokushesha uma usesesibhedlela. Uma usekhaya, shayela u-911 ngokushesha, noma umyise esibhedlela esiseduze. Lokhu akuyona into yokulibazisa.

Odokotela bakuthola kanjani lokhu?

Odokotela bavame ukusola i-hyperammonemia ngokuhlola amazinga e-ammonia egazini.

• Kubantwana abangaphansi kwenyanga eyodwa ubudala, uma izinga le-ammonia egazini lingaphezu kwama-micromol angu-80/ilitha (80 micromol/L).
• Ezinganeni ezindala, uma kungaphezu kwama-micromol/ilitha angu-55 (55 micromol/L).
• Kubantu abadala, uma kungaphezu kwama-micromol/ilitha angu-30 (30 micromol/L).

Le yunithi yokulinganisa (i-micromol/L) iyindlela yokulinganisa inani le-ammonia egazini.

Yiziphi izivivinyo ezenziwayo ukuze kutholakale lokhu?

Ukuhlolwa okuyinhloko ukuhlolwa kwegazi okulinganisa izinga le-ammonia egazini lakho. Uma izinga lakho le-ammonia liphezulu, udokotela wakho angenza ezinye izivivinyo ukuthola imbangela. Isibonelo, ukuhlolwa kwegazi ukuhlola ukusebenza kwesibindi sakho kanye nokusebenza kwezinso , kanye nokuhlolwa komchamo . Ngenxa yokuthi i-hyperammonemia ingalimaza uhlelo lwezinzwa oluphakathi futhi ibe yingozi empilweni, udokotela wakho angenza nezivivinyo zezithombe, njenge -CT (computed tomography) scan noma i-MRI (magnetic resonance imaging), ukuhlola izinkinga ezithinta ubuchopho.

Yiziphi izindlela zokwelapha i-hyperammonemia?

Ukwelashwa kuncike embangela. Isibonelo, kumuntu omdala, kungenxa yesifo sesibindi noma i-hepatic encephalopathy, noma kumntwana osanda kuzalwa, kungenxa yesifo somjikelezo we-urea (UCD). Ku-hyperammonemia ebukhali, umgomo oyinhloko ukunciphisa izinga le-ammonia egazini nokulawula izinkinga ezithile ezifana nokuvuvukala kobuchopho kanye nokucindezela okwandisiwe okuzungeze ubuchopho (umfutho wegazi ophakeme ngaphakathi kwekhanda).

• Uma umntwana osanda kuzalwa ene-hyperammonemia, odokotela bazoyeka ukumnikeza iphrotheni (ngoba i-ammonia ikhiqizwa lapho iphrotheni igaywa) esikhundleni salokho bamnike i-glucose, isisombululo sikashukela, ukuze anikeze amakhalori. Bazosebenzisa nenqubo ebizwa ngokuthi i-hemodialysis . Lokhu kuhilela ukuhlanza igazi lomntwana nokususa i-ammonia ngomshini wokuhlanza igazi kanye nesihlungi esikhethekile (njengezinso zokwenziwa).
• Abantu abane-partial urea cycle enzyme deficiency (UCD) abathola i-hyperammonemia ngenxa yokucindezeleka, njenge-stress-induced hyperammonemia, nabo banikezwa i-protein drainage kanye ne-glucose njengama-calories. I-Hemodialysis yenziwa kuphela uma amazinga abo e-ammonia enganciphi phakathi namahora ambalwa okwelashwa kokuqala.
• Ukwelashwa kwe-hepatic encephalopathy ukunciphisa ukukhiqizwa kwe-ammonia emathunjini. Ukwelashwa kokuqala yimithi yomlomo equkethe i-lactulose ne-lactitol . Lawa mashukela anciphisa ukukhiqizwa nokumuncwa kwe-ammonia emathunjini.

Odokotela bangase batuse izithasiselo zokudla ezifana nalezi ukusiza abantu abanezinkinga zomjikelezo we-urea ukunciphisa ukuvama kwezimpawu zabo:

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

Ingabe zikhona izindlela zokugwema lesi simo?

Ngenxa yokuthi kunezimbangela eziningi ze-hyperammonemia, akuzona zonke izimo ezingavinjelwa. Kodwa-ke, ungathatha izinyathelo zokuvimbela ezinye izinhlobo zesifo sesibindi, ikakhulukazi lezo ezihlobene nokudla kwakho nendlela yakho yokuphila. Uma usengozini yokuthola isifo sesibindi, udokotela wakho angase akuncomele ukwenza lezi zinguquko endleleni yokuphila:

• Kulungile ukugwema noma ukunciphisa ukusetshenziswa kotshwala.
• Gwema ukudla neziphuzo eziqukethe amafutha e-trans noma isiraphu yommbila ene-fructose ephezulu.
• Ukuze ugweme ukulimala kwesibindi, qaphela kakhulu lapho usebenzisa imithi kadokotela kanye nemithi etholakala ngaphandle kwemithi kadokotela.
• Ukuzivocavoca njalo .
• Ukunciphisa ukusetshenziswa kwenyama ebomvu.

Ukuze uvimbele i-Reye's syndrome, isimo esibangela i-hyperammonemia ezinganeni nakubantu abadala abasebasha, unganiki izingane i-aspirin ngezimpawu zokutheleleka ngegciwane (njenge-flu noma i-chickenpox) ngaphandle kokuthi kunconywe udokotela ngokuqondile. Ama-Urea cycle defects (UCDs) awavamile, kodwa kunezivivinyo zofuzo ukuze kubonakale ukuthi unazo yini izakhi zofuzo ezibangela lokhu. Khuluma nodokotela wakho ngalokhu.

Iyini iphrojekthi yalesi simo?

Umbono we-hyperammonemia, okungukuthi, ikhono lokululama, uncike ezintweni eziningana:

• Ukuthi amazinga akho e-ammonia aphakeme kangakanani.
• Isikhathi esingakanani izinga le-ammonia liphakanyisiwe.
• Yini ebangela i-hyperammonemia?

Ngokuvamile, umbono we-hyperammonemia mubi. Uma ingelashwa noma yelashwa sekwephuzile, ukuvuvukala kobuchopho okungenakuguqulwa kuhlotshaniswa nesilinganiso esiphezulu sokufa. Ngeshwa, kungakhathaliseki ukuthi ingane esanda kuzalwa yelashwa ngokushesha noma ngobudlova kangakanani nge-hyperammonemia enzima, asikho isiqinisekiso sokuthi umphumela uzoba muhle. E-United States, izinga lokusinda kweminyaka eyi-11 kubantu abanezinkinga zomjikelezo we-urea (UCDs) abathola i-hyperammonemia besebancane cishe liyi-35%. Kulabo abathola i-hyperammonemia kamuva ekuphileni, izinga lokusinda cishe liyi-87%. Amazinga okusinda konyaka owodwa kanye neminyaka emithathu yeziguli ezine-hepatic encephalopathy enzima ngenxa ye-hyperammonemia kubikwe ukuthi angama-42% kanye nama-23%, ngokulandelana.

Yiziphi izinkinga ezingaba khona ngenxa ye-hyperammonemia?

Uma lesi simo singelashwa ngokushesha, amazinga aphezulu e-ammonia angalimaza isimiso sezinzwa esiyinhloko futhi aholele ezinkingeni ezisongela ukuphila. Izinkinga ezinjalo zifaka:

• Ukuvuvukala kobuchopho
• Ukwanda kwengcindezi ezungeze ubuchopho (i-Intracranial hypertension)
• Ukuqhekeka kobuchopho – Lokhu kuvame ukubangelwa ukuvuvukala kobuchopho kanye nokwanda kwengcindezi ezungeze ubuchopho.
• I-Coma
• Ukufa

Uma umuntu ene-hyperammonemia encane engapheli isikhathi eside, angase abe nokukhubazeka kwengqondo kanye nezinkinga zokuziphatha ezingapheli nezengqondo.

Kufanele simbone nini udokotela?

Uma wena noma othile omkhathalelayo enezimpawu ze-hyperammonemia, shayela u-911 ngokushesha noma uye esibhedlela esiseduze. Lokhu akuyona into yokulibazisa. Uma unesifo sesibindi noma ukuntuleka kwe-enzyme yomjikelezo we-urea, kubaluleke kakhulu ukubona udokotela wakho njalo ukuze uphathe isimo sakho futhi uqaphe amazinga akho e-ammonia.

I-Hyperammonemia yisimo esibi kakhulu esingabangelwa izinto eziningana. Uma wena, ingane yakho, noma ingane yakho ninalezi zimpawu, funa usizo ngokushesha. Uma unesifo sesibindi, noma uma othile emndenini wakho enezinkinga zomjikelezo we-urea (UCDs), khuluma nodokotela wakho ngengozi yakho yokuthola i-hyperammonemia. Bakhona ukukusiza.

Ekugcineni, khumbula lokhu.

Kulungile, ngakho-ke nazi ezinye zezinto ezibaluleke kakhulu okudingeka uzikhumbule kulokho esikhulume ngakho:

• I-Hyperammonemia iyizinga eliphezulu kakhulu le-ammonia egazini. Lokhu kuyingozi kakhulu ebuchosheni bethu kanye nasesimisweni sezinzwa.
• Kungaba nezizathu eziningana zalokhu. Izinkinga zesibindi kanye nokuphazamiseka komjikelezo we-urea (ama-UCD) yizona zimbangela eziyinhloko.
• Izimpawu ziyahlukahluka kuye ngokuthi isimo sibucayi kangakanani kanye nobudala. Zingasukela ezimpawu ezincane ezifana nokucanuzela kwenhliziyo, ukuhlanza, kanye nekhanda elibuhlungu kuya ezimpawini ezinzima kakhulu ezifana nokudideka, ukuquleka, kanye nokuquleka. Izingane ezisanda kuzalwa kufanele zikhathazeke kakhulu ngezimpawu zazo.
• Uma unezimpawu ezinzima, kufanele ufune iseluleko sezokwelapha ngokushesha. Lokhu kungaba yisimo esiholela ekufeni noma impilo.
• Ukwelashwa kuncike embangela. Ukwelashwa okusheshayo kunganciphisa amazinga e-ammonia futhi kulawule izinkinga.
• Nakuba ezinye izimbangela zingenakuvinjelwa, ezinye izingozi zingancishiswa ngokugcina indlela yokuphila enempilo nokunakekela isibindi sakho .
• Kungakhathaliseki ukuthi unesifo sesibindi noma othile emndenini wakho une-UCDs, kubalulekile ukuthi uhlolwe njalo ngudokotela.

Ungakhohlwa, uyazi impilo yakho kangcono. Uma uzizwa ngendlela ehlukile noma engavamile, ungesabi ukukhuluma nodokotela. I-Hyperammonemia, i-ammonia, isibindi, umjikelezo we-urea, ubuchopho, izimpawu, ukwelashwa