Imizimba yethu isebenza njalo ngemuva kwezigcawu, akunjalo? Ngezinye izikhathi, lapho lezi zinqubo eziyinkimbinkimbi zezinto eziphilayo ziphazamiseka, kungaholela ezinkingeni ezinkulu zempilo. Esinye isimo esibucayi kangaka yi -Hyperammonemia , esenzeka lapho umkhiqizo onobuthi obizwa ngokuthi i-ammonia uqongelela egazini lakho. Ngenxa yokuthi lesi simo singaba yingozi empilweni uma singaphathwa ngokushesha, kubalulekile ukuhlala unolwazi ngaso.
Kuyini i-Hyperammonemia?
Kalula nje, i-hyperammonemia ukwanda okuyingozi kwamazinga e-ammonia (NH3) egazini lakho. I-Ammonia iwumkhiqizo odalwa emathunjini akho lapho umzimba wakho ugaya amaprotheni owadlayo. Ngokuvamile, isibindi sakho sicubungula le ammonia ngokulandelana okubizwa ngokuthi i -Urea Cycle . Lo mjikelezo uguqula i-ammonia ibe yi-urea, into engenabungozi kangako ekhishwa ngokuphephile emzimbeni wakho emchameni wakho.
Kodwa-ke, uma kukhona ukuphazamiseka kulo mjikelezo we-urea noma uma isibindi sakho singakwazi ukucubungula i-ammonia ngempumelelo, siqala ukuqongelela egazini lakho. Amazinga aphezulu e-ammonia egazini anobuthi kakhulu ku- Central Nervous System yakho (CNS) — ubuchopho bakho kanye nomgogodla. Yingakho i-hyperammonemia iyisimo esiphuthumayo sezokwelapha esidinga ukungenelela okusheshayo futhi singaba yingozi empilweni.
Ubani osengozini enkulu?
I-Hyperammonemia ingathinta noma ubani, kusukela ezinsaneni ezisanda kuzalwa kanye nezingane kuya kubantu abadala.
- Kubantu abadala, cishe ama-90% amacala ahlotshaniswa ne -Cirrhosis yesibindi .
- Ezinsaneni ezisanda kuzalwa, kungabangelwa ukuphazamiseka komjikelezo we-urea wokuzalwa , okuyizimo zofuzo ezizuzwe njengefa.
- Ezinganeni ezincane, kungase kwenzeke ngenxa yokwehluleka okukhulu kwesibindi noma ezinye izifo ze-metabolic ezizuzwe njengefa.
Nakuba kunzima ukukhomba imvamisa eqondile ngenxa yezimbangela zayo ezahlukahlukene, ucwaningo lubonisa ukuthi njengesimo esiyinhloko, i-Urea Cycle Disorders (UCDs) ithinta cishe umuntu oyedwa kwabangu-250,000 abazalwa e-United States, kanye noyedwa kwabangu-440,000 abazalwa emhlabeni jikelele.
Yini ebangela i-Hyperammonemia?
Kunezimbangela eziningana, ezingahluka ngokweminyaka. Kodwa-ke, ngokuvamile, izigaba ezimbili eziyinhloko ukungasebenzi kahle kwesibindi kanye ne-Urea Cycle Disorders (UCDs) .
Izinkinga Ezihlobene Nesibindi
Isibindi sakho yisona sitho esiyinhloko esibangela ukuguqulwa kwe-ammonia ibe yi-urea. Uma isibindi sakho sonakele noma sinesifo, silahlekelwa ikhono lokucubungula i-ammonia kahle, okubangela ukuthi iqongeleleke egazini lakho.
Izimo ezingaholela ku-hyperammonemia zifaka:
- Isifo Sesibindi : Uma isibindi sakho sonakele , amandla aso okucubungula i-ammonia ayaphazamiseka. Nakuba kuvame kakhulu ezifweni ezimbi kakhulu, ngisho nalabo abanezimo zesibindi ezihlala isikhathi eside bangathola ukwanda okungazelelwe kwe-ammonia ngenxa yezici ezifana nokopha kwamathumbu noma ukungalingani kwe-electrolyte (isb., okuhlobene namazinga kasawoti ). Isifo sesibindi sisalokhu siyimbangela ehamba phambili ye-ammonia ephezulu kokubili ezinganeni nakubantu abadala.
- I-Hepatic encephalopathy : Lokhu kwenzeka lapho ukulimala kwesibindi kubangela ukuthi i-ammonia iqoqeke futhi ifinyelele ebuchosheni, okuholela ezimpawini ezifana nokudideka, ukudideka , ngisho nokuquleka. Lokhu kungaba yingozi uma kungelashwa.
- I-cirrhosis yesibindi:I-cirrhosis ihilela ukufaka esikhundleni izicubu zesibindi ezinempilo ngezicubu zesibazi, okuphazamisa kakhulu ukusebenza kwesibindi futhi okungase kuholele ekunyukeni kwe-ammonemia.
- Ukwehluleka kwesibindi okubukhali: Lokhu kuwukulahlekelwa ukusebenza kwesibindi ngokuzumayo. Isibonelo, ukulimala kwesibindi okubangelwa izidakamizwa, njengokudlula ngokweqile kwe -acetaminophen , kubangela u-50% wamacala okwehluleka kwesibindi okubukhali e-US Ezinganeni, u-64% wamacala e-hyperammonemia ahlotshaniswa nokwehluleka kwesibindi okubukhali.
- Ukwehla kokugeleza kwegazi esibindini sakho: Uma isibindi singatholi ukugeleza kwegazi okwanele, asikwazi ukuhlunga nokucubungula i-ammonia ngempumelelo, okuholela ekuqongeleleni kwegazi emzimbeni.
- I-Reye's syndrome: Lesi yisimo esingavamile nesibucayi esibangela ukuvuvukala esibindini nasebuchosheni. Sivame ukubangela amazinga aphezulu e-ammonia kanye noshukela wegazi ophansi. Sivame ukubonakala ezinganeni nasebasha abalulama ezifweni ezibangelwa amagciwane njenge-chickenpox noma umkhuhlane, ikakhulukazi uma i-aspirin isetshenzisiwe. Ngenxa yale ngozi, ungalokothi unike izingane noma intsha i-aspirin ngaphandle kokuthi uqondiswe udokotela ngokuqondile.
Izinkinga Zomjikelezo We-Urea (UCDs)
Njengoba kushiwo, umjikelezo we-urea inqubo yokuguqula i-ammonia enobuthi ibe yi-urea. Le nqubo ihilela izinyathelo eziningana, ngasinye sidinga i-enzyme ethile, okuhlanganisa:
- 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 noma iyiphi yalezi enzyme ingasebenzi kahle, umjikelezo uyahluleka, bese i-ammonia iqoqana. Lezi zimo zofuzo, ezaziwa ngokuthi ama-UCD, zingabangela kokubili i-hyperammonemia ebukhali nengamahlalakhona.
Ama-UCD akhona kusukela ekuzalweni. Izinsana ezisanda kuzalwa ezinokuntuleka okuphelele kwama-enzyme zivame ukuba ne-hyperammonemia ebukhali zingakapheli amahora angama-24 kuya kwangu-72 kusukela ekuzalweni. Uma ukuntuleka kuyingxenye noma kuncane, izimpawu zingase zivele kamuva ekuphileni ngenxa yokugula noma ukucindezeleka. Ama-UCD abangela u-23% wamacala e-hyperammonemia ebukhali ezinganeni ezigula kakhulu.
Ezinye Izimbangela
Ngaphandle kwezici ezishiwo ngenhla, kunezinye izimbangela eziningana ezingaba khona:
- Ukwehluleka kwezinso (izinso): Uma izinso zakho zihluleka, azikwazi ukuhlunga i-urea emzimbeni wakho ngempumelelo. Lokhu kubangela ukuthi i-ammonia iqongeleleke egazini lakho.
- Izinkinga ezithile zegazi: Izimo ezifana ne-multiple myeloma kanye ne-acute leukemia nazo zingabangela i-hyperammonemia.
- Ukutheleleka okuthile: Ukutheleleka okubangelwa izinto eziphilayo ezikhiqiza i-urease—njenge- Proteus mirabilis , i-Escherichia coli (E. coli) , kanye ne -Klebsiella —kungaholela ku-hyperammonemia enzima. Lokhu kuvame kakhulu ezinganeni ezizalwa zinezinkinga zomgudu womchamo noma kubantu abadala abahlushwa ukugcinwa komchamo ngenxa ye-UTI.
Ziyini izimpawu ze-Hyperammonemia?
Izimpawu zingahluka kakhulu kuye ngeminyaka yakho kanye nobunzima besimo sakho.
Izimpawu ezivamile ezincane ezinganeni nakubantu abadala
- Isicanucanu nokuhlanza
- Ubuhlungu besisu
- Ukucasuka
- Ikhanda elibuhlungu
- Ubunzima ngokulinganisela, ukuxhumanisa, noma ukukhuluma (ataxia)
- Izinguquko zokuziphatha
Izimpawu ezingemnandi ezengeziwe eziqondene nezingane
- Ukwehluleka ukuchuma
- Ubuthakathaka bemisipha (hypotonia)
- Ukulibaziseka kokuthuthukiswa kwe-neuro
Izimpawu ezinzima ezinganeni nakubantu abadala
Lezi yizimpawu eziyisixwayiso ezinkulu. Uma uhlangabezana nanoma yikuphi kwalokhu, funa usizo lwezokwelapha ngokushesha.
- Ukudideka nokudideka
- Ukushintshashintsha kwemizwa
- Ukulala ngokweqile
- Izinguquko engqondweni
- Ukuquleka
- Ukuphefumula okusheshayo (ukuphefumula okusheshayo)
- I-Coma
Isexwayiso: Uma wena noma othandekayo wakho nizwa lezi zimpawu, sicela ushayele u-911 ngokushesha noma uqhubekele emnyangweni wezimo eziphuthumayo esibhedlela esiseduze. Amazinga aphezulu e-ammonia egazini asongela ukuphila futhi adinga ukungenelela kwezokwelapha okuphuthumayo.
Izimpawu ezinganeni ezisanda kuzalwa
Ezinsaneni ezisanda kuzalwa, i-hyperammonemia ivame ukwenzeka phakathi kwamahora angu-24 kuya kwangu-72 ngemva kokuzalwa:
- Ukucasuka nokukhala ngokweqile
- Ukuhlanza
- Ubuthaka
- Ukuquleka
- Ukububula lapho uphefumula
- Ukuphefumula ngokweqile
Okubalulekile: Uma ingane yakho ibonisa lezi zimpawu ngesikhathi usesesibhedlela, yazisa udokotela wakho ngokushesha. Uma usekhaya, shayela u-911 noma uye ekamelweni lezimo eziphuthumayo eliseduze ngokushesha. Ungalibali ukufuna ukunakekelwa.
Ithimba lezokwelapha laseNirogi Lanka likuthola kanjani lokhu?
Odokotela bavame ukusola i-hyperammonemia ngokuhlola amazinga e-ammonia egazini lakho.
- Kubantwana abangaphansi kwenyanga eyodwa ubudala: Amazinga aphezulu kune-80 micromol/L ayakhathaza.
- Ezinganeni ezindala: Amazinga angaphezu kwama-55 micromol/L ayakhathaza.
- Kwabantu abadala: Amazinga angaphezu kwama-30 micromol/L ayakhathaza.
I-Micromol/L iyiyunithi ejwayelekile esetshenziselwa ukukala inani le-ammonia egazini lakho.
Ukuhlolwa kokuxilonga
Ithuluzi eliyinhloko lokuxilonga ukuhlolwa kwegazi ukuze kulinganiswe amazinga e-ammonia.
Uma amazinga aphezulu eqinisekiswa, udokotela wakho angase acele ukuhlolwa okwengeziwe ukuze kutholakale imbangela eyinhloko, njengokuhlolwa kokusebenza kwesibindi , ukuhlolwa kokusebenza kwezinso , noma ukuhlolwa komchamo .
Ngenxa yokuthi i-hyperammonemia ingalimaza isimiso sezinzwa esiyinhloko futhi ibe usongo empilweni, udokotela wakho angase futhi ancome ukuhlolwa kwezithombe njenge- CT (computed tomography) scan noma i -MRI (magnetic resonance imaging) ukuhlola izinkinga zezinzwa.
Yiziphi izindlela zokwelapha i-Hyperammonemia?
Ukwelashwa kuncike ngokuphelele embangela eyinhloko—kungakhathaliseki ukuthi yi-hepatic encephalopathy kumuntu omdala onesifo sesibindi, noma i-urea cycle disorder (UCD) kosana olusanda kuzalwa.
Ezimweni ze-hyperammonemia ebukhali, umgomo ukwehlisa amazinga e-ammonia egazini ngokushesha nokuphatha izinkinga ezifana ne-cerebral edema (ukuvuvukala kobuchopho) kanye nomfutho wegazi ophakeme ngaphakathi kwekhanda.
- Kwabasanda kuzalwa, odokotela bazoyeka ukudla amaprotheni (njengoba ukugaya amaprotheni kukhiqiza i-ammonia) futhi banikeze amakhalori ngezixazululo ze-glucose. I-Hemodialysis ingasetshenziswa ukuhlanza igazi kusetshenziswa umshini okhethekile kanye nesihlungi (esisebenza njengezinso zokwenziwa).
- Kulabo abanesifo sokuntuleka kwe-enzyme ye-UCD okubangelwa ukucindezeleka, ukudla amaprotheni kunqunyelwe kuyilapho i-glucose inikeza ukwesekwa kwama-caloric. I-Hemodialysis igcinelwe izimo lapho ukwelashwa kokuqala kwehluleka ukwehlisa amazinga e-ammonia emahoreni ambalwa.
- Ukwelapha i-hepatic encephalopathy, kugxilwe ekunciphiseni ukukhiqizwa kwe-ammonia emathunjini. Ukwelashwa kokuqala kufaka phakathi imithi yomlomo equkethe i-lactulose noma i-lactitol , esiza ekuvimbeleni umzimba ekumunceni i-ammonia.
Kulabo abanezinkinga zomjikelezo we-urea ezingamahlalakhona, odokotela bangase banikeze izithasiselo zokudla ezithile ukuze bavimbele ukuphinda kuvele, okuhlanganisa:
- I-L-carnitine
- I-L-ornithine-L-aspartate
- I-Arginine
Ingabe lesi simo singavinjelwa?
Ngenxa yokuthi i-hyperammonemia inezimbangela ezahlukahlukene, ayikwazi ukuvinjelwa ngaso sonke isikhathi. Kodwa-ke, ungathatha izinyathelo zokuvikela isibindi sakho kanye nempilo yonke:
- Gwema noma unciphise ukusetshenziswa kotshwala.
- Nciphisa ukudla amafutha e-trans kanye nesiraphu yommbila ene-fructose ephezulu.
- Qaphela kokubili imithi kadokotela kanye nemithi etholakala ngaphandle kwemithi kadokotela ukuze ugweme ukucindezelwa kwesibindi.
- Gcina isimiso sokuzivocavoca esingaguquguquki.
- Nciphisa ukusetshenziswa kwenyama ebomvu.
Ukuze usize ekuvimbeleni i-Reye's syndrome ezinganeni nasebancane—isimo esingaholela ku-hyperammonemia —ungalokothi unikeze i-aspirin yezimpawu zamagciwane (njengomkhuhlane noma i-chickenpox) ngaphandle kokuthi uqondiswe udokotela ngokuqondile.
Izinkinga Zomjikelezo We-Urea (UCD) azivamile, kodwa ukuhlolwa kofuzo kuyatholakala ukuze kutholakale ukuthi unazo yini izakhi zofuzo ezibangela lezi zimo. Sicela uxhumane nodokotela wakho ukuze uxoxe ngokuthi lokhu kuhlolwa kufanelekile yini kuwe.
Iyini iphrojekthi yalesi simo?
Isibikezelo se-hyperammonemia—noma umbono wakho wokululama—sincike ezintweni eziningana ezibalulekile:
- Ubukhulu bokuphakama kwe-ammonia yakho.
- Isikhathi amazinga akho e-ammonia ahlala ephakeme ngaso.
- Imbangela yezokwelapha eyisisekelo ye-hyperammonemia.
Ngokuvamile, ukubikezela kwe-hyperammonemia kungavikelwa. Uma ukwelashwa kubambezeleka noma kunganikezwa, ukuvuvukala kobuchopho okungenakuguqulwa kungaholela esilinganisweni esiphezulu sokufa. Ngeshwa, ezinsaneni ezisanda kuzalwa ezine-hyperammonemia enzima, ngisho nokungenelela okunamandla nokusheshayo akuqinisekisi njalo umphumela omuhle.
E-United States, iziguli ezine-UCD ezithola i-hyperammonemia zisencane zinesilinganiso sokusinda seminyaka eyi-11 esingaba ngu-35%. Kulabo abathola i-hyperammonemia kamuva ekuphileni, leli thuba lokusinda likhuphukela cishe ku-87%.
Kubantu abathola isifo sokuqina kwesibindi ngenxa ye-hyperammonemia, amazinga okusinda onyakeni owodwa nowemithathu abikwe ku-42% kanye no-23%, ngokulandelana.
Yiziphi izinkinga ezingaba khona ngenxa ye-hyperammonemia?
Uma lesi simo singelashwa ngokushesha, amazinga aphezulu e-ammonia angalimaza isimiso sezinzwa esiyinhloko, okuholela ezinkingeni ezisongela ukuphila, okuhlanganisa:
- Ukuvuvukala kobuchopho (ukuvuvukala kobuchopho)
- Umfutho wegazi ophakeme ngaphakathi kwekhanda (ukucindezeleka okwandisiwe ngaphakathi kwekhanda)
- Ukuqhekeka kobuchopho – ngokuvamile kuba umphumela wokuvuvukala okukhulu kobuchopho kanye nokucindezeleka okukhulu.
- I-Coma
- Ukufa
Uma uhlangabezana ne-hyperammonemia encane engapheli, ungase ube sengozini yokukhubazeka kwengqondo isikhathi eside kanye nezinselele zokuziphatha noma zengqondo eziqhubekayo.
Kufanele ubonane nini nodokotela?
Uma wena noma othandekayo wakho nibonisa izimpawu ze-hyperammonemia, shayela ku-911 noma uqhubekele emnyangweni wezimo eziphuthumayo oseduze ngokushesha. Ungalibali ukufuna ukunakekelwa.
Uma unesifo sesibindi noma ukuntuleka okuyingxenye kwama-enzyme omjikelezo we-urea, kubalulekile ukuthi uhlale uhlolwa njalo nodokotela wakho ukuze uphathe isimo sakho futhi uqaphe amazinga akho e-ammonia ngempumelelo.
I-Hyperammonemia yisimo esibi kakhulu esinezimbangela ezahlukahlukene eziyisisekelo. Uma wena, ingane yakho, noma usana lwakho lubonisa izimpawu, funa usizo lwezokwelapha ngokushesha. Uma unesifo sesibindi noma umlando womndeni we-UCDs, xoxa ngezinto zakho eziyingozi nodokotela wakho. I-Nirogi Lanka ilapha ukuzokusekela ohambweni lwakho lwezempilo.
Imicabango yokugcina okufanele uyikhumbule
Ngamafuphi, nanka amaphuzu abaluleke kakhulu okufanele uwakhumbule:
- I-Hyperammonemia yenzeka lapho amazinga e-ammonia egazini ekhuphuka aze abe ngamazinga ayingozi, okuyinto enobuthi kakhulu ebuchosheni bakho kanye nasesimisweni sezinzwa.
- Kunezimbangela eziningi ezingaba khona, kanye nokungasebenzi kahle kwesibindi kanye ne-Urea Cycle Disorders (UCDs) okuyizona ezibangela lokhu.
- Izimpawu ziyahlukahluka ngobudala kanye nobunzima, kusukela ezinkingeni ezincane njengokucanuzela kwenhliziyo, ukuhlanza, kanye nekhanda elibuhlungu kuya ezinkingeni ezinkulu njengokudideka, ukuquleka, kanye ne-coma. Hlala uqaphile ngezimpawu ezinganeni ezisanda kuzalwa.
- Uma kukhona izimpawu ezinzima, funa usizo lwezokwelapha ngokushesha. Lokhu kungaba isimo esiholela ekufeni noma ukuphila.
- Ukwelashwa kuklanyelwe imbangela eyinhloko. Ukungenelela okusheshayo kugxile ekwehliseni amazinga e-ammonia kanye nokulawula izinkinga.
- Nakuba ezinye izimbangela zingenakuvinjelwa, ukugcina indlela yokuphila enempilo nokuqapha impilo yesibindi sakho kungasiza ekunciphiseni izingozi ezithile.
- Uma unesifo sesibindi noma unomlando womndeni we-UCDs, ukuhlolwa njalo kwezokwelapha kubalulekile.
Khumbula, uyazi impilo yakho kangcono. Uma ubona noma yiziphi izinguquko noma izimpawu ezingavamile, ungangabazi ukubonana nodokotela. Silapha ukuzokusiza.
I-Hyperammonemia, i-ammonia, isibindi, umjikelezo we-urea, ubuchopho, izimpawu, ukwelashwa
