Imizimba yethu isebenza rhoqo ngasemva kweziganeko, akunjalo? Ngamanye amaxesha, xa ezi nkqubo zintsonkothileyo zebhayoloji ziphazamiseka, oko kunokukhokelela kwiingxaki ezinkulu zempilo. Enye yezi meko zibalulekileyo yiHyperammonemia , eyenzeka xa imveliso enobuthi ebizwa ngokuba yi-ammonia iqokelelana egazini lakho. Ngenxa yokuba le meko inokuba yingozi ebomini ukuba ayilawulwa ngokukhawuleza, kubalulekile ukuhlala unolwazi ngayo.
Yintoni iHyperammonemia?
Ngamafutshane, i-hyperammonemia kukunyuka okuyingozi kwamanqanaba e-ammonia (NH3) egazini lakho. I-Ammonia yimveliso eyenzeka emathunjini akho xa umzimba wakho ucola iiproteni ozityayo. Ngokwesiqhelo, isibindi sakho sicubungula le ammonia ngokulandelelana okubizwa ngokuba yi- Urea Cycle . Lo mjikelo uguqula i-ammonia ibe yi-urea, into engenabungozi kangako ekhutshwa ngokukhuselekileyo emzimbeni wakho kumchamo wakho.
Nangona kunjalo, ukuba kukho ukuphazamiseka kulo mjikelo we-urea okanye ukuba isibindi sakho asikwazi ukucubungula i-ammonia ngokufanelekileyo, siqala ukuqokelelana egazini lakho. Amanqanaba aphezulu e-ammonia egazini ayingozi kakhulu kwiNkqubo yakho yeNervous System (CNS) - ingqondo yakho kunye nomqolo. Yingakho i-hyperammonemia yingxamiseko yezonyango efuna ukungenelela ngokukhawuleza kwaye inokuba yingozi ebomini.
Ngubani osengozini enkulu?
I-Hyperammonemia inokuchaphazela nabani na, ukususela kwiintsana ezisandul’ ukuzalwa kunye nabantwana ukuya kubantu abadala.
- Kubantu abadala, malunga ne-90% yamatyala anxulunyaniswa ne -Cirrhosis yesibindi .
- Kwiintsana ezisandul’ ukuzalwa, oku kunokubangelwa yingxaki yomjikelo we-urea wokuzalwa , eziziimeko zemfuza ezizuzwe njengelifa.
- Kubantwana abancinci, oku kusenokubangelwa kukungasebenzi kakuhle kwesibindi okanye ezinye izifo ezibangelwa kukufa kwesibindi.
Nangona kunzima ukuyiqonda ngqo i-frequency ngenxa yezizathu ezahlukeneyo, uphando lubonisa ukuba njengengxaki ephambili, i-Urea Cycle Disorders (UCDs) ichaphazela malunga nomntwana omnye kwabangama-250,000 abazalwa eMelika, kwaye malunga nomntwana omnye kwabangama-440,000 abazalwa kwihlabathi liphela.
Yintoni ebangela iHyperammonemia?
Kukho izizathu ezahlukeneyo, ezinokwahluka ngokweminyaka. Nangona kunjalo, ngokubanzi, iindidi ezimbini eziphambili kukungasebenzi kakuhle kwesibindi kunye ne-Urea Cycle Disorders (UCDs) .
Imicimbi Enxulumene Nesibindi
Isibindi sakho sisitho esiphambili esinoxanduva lokuguqula i-ammonia ibe yi-urea. Ukuba isibindi sakho sonakele okanye sinesifo, silahlekelwa ngamandla okucubungula i-ammonia ngokufanelekileyo, nto leyo ebangela ukuba iqokeleleke egazini lakho.
Iimeko ezinokubangela i-hyperammonemia ziquka:
- Isifo sesibindi : Xa isibindi sakho sonakele , amandla aso okucubungula i-ammonia ayaphazamiseka. Nangona ixhaphake kakhulu kwisifo esinzima, kwanabo baneengxaki zesibindi ezingapheliyo banokufumana ukunyuka ngequbuliso kwe-ammonia ngenxa yezinto ezifana nokopha kwamathumbu okanye ukungalingani kwe-electrolyte (umz., okunxulumene namanqanaba etyuwa ). Isifo sesibindi sihlala singunobangela ophambili we-ammonia ephezulu ebantwaneni nakubantu abadala.
- I-Hepatic encephalopathy : Oku kwenzeka xa umonakalo wesibindi ubangela ukuba i-ammonia iqokelele kwaye ifikelele engqondweni, nto leyo ekhokelela kwiimpawu ezinje ngokudideka, ukudideka , kwanokufiphala. Oku kunokuba yingozi ukuba akunyangwa.
- Isifo sesibindi:I-Cirrhosis ibandakanya ukutshintshwa kwezicubu zesibindi eziphilileyo ngezicubu ezibomvu, nto leyo eyonakalisa kakhulu ukusebenza kwesibindi kwaye inokukhokelela kwi-hyperammonemia.
- Ukungasebenzi kakuhle kwesibindi: Oku kukulahlekelwa ngamandla kokusebenza kwesibindi. Umzekelo, ukwenzakala kwesibindi okubangelwa ngamayeza, njengokusebenzisa i-acetaminophen ngokugqithisileyo, kubangela ama-50% eemeko zokungasebenzi kakuhle kwesibindi e-US Kubantwana, ama-64% eemeko ze-hyperammonemia anxulunyaniswa nokungasebenzi kakuhle kwesibindi.
- Ukuncipha kokuhamba kwegazi esibindini sakho: Ukuba isibindi asifumani ukuhamba kwegazi okwaneleyo, asikwazi ukucoca nokulungisa i-ammonia ngokufanelekileyo, nto leyo ekhokelela ekuqokeleleni kwegazi emzimbeni.
- Isifo sikaReye: Esi sisifo esingaqhelekanga nesinzima esibangela ukudumba kwesibindi nengqondo. Sidla ngokubangela amanqanaba aphezulu e-ammonia kunye ne-glucose ephantsi egazini. Siqhele ukubonwa ebantwaneni nakubantu abaselula abachacha kwiintsholongwane ezifana ne-chickenpox okanye i-flu, ingakumbi xa i-aspirin isetyenzisiwe. Ngenxa yale ngozi, ungaze unike abantwana okanye abakwishumi elivisayo i-aspirin ngaphandle kokuba uyalelwe ngugqirha ngokuthe ngqo.
Iingxaki zoMjikelezo we-Urea (UCDs)
Njengoko kukhankanyiwe, umjikelo we-urea yinkqubo yokuguqula i-ammonia enobuthi ibe yi-urea. Le nkqubo ibandakanya amanyathelo aliqela, ngalinye lifuna i-enzyme ethile, kuquka:
- I-N-acetyl-glutamate synthase (NAGS)
- I-Carbamoyl phosphate synthetase (CPS)
- I-Ornithine transcarbamylase (i-OTC)
- I-Argininosuccinate synthetase (AS)
- I-Argininosuccinic acid lyase (ASL)
- I-Arginase (ARG1)
Ukuba kukho nanye kwezi enzymes engonelanga, umjikelo uyasilela, kwaye i-ammonia iyaqokelelana. Ezi meko zemfuza, ezaziwa ngokuba yi-UCDs, zinokubangela zombini i-hyperammonemia ebukhali nengapheliyo.
Ii-UCDs zikhona ukususela ekuzalweni. Iintsana ezisandul’ ukuzalwa ezine-enzyme deficiency epheleleyo zihlala ziba ne-hyperammonemia ebukhali kwiiyure ezingama-24 ukuya kuma-72 emva kokuzalwa. Ukuba i-deficiency incinci okanye incinci, iimpawu zinokuvela kamva ebomini ngenxa yokugula okanye uxinzelelo. Ii-UCDs zibangela i-23% yeemeko ze-hyperammonemia ebukhali kubantwana abagula kakhulu.
Ezinye izizathu
Ngaphandle kwezi zinto zikhankanyiweyo apha ngasentla, kukho nezinye izizathu ezininzi ezinokubangela oku:
- Ukungasebenzi kakuhle kwezintso (izintso): Xa izintso zakho zingasebenzi kakuhle, azikwazi ukucoca i-urea emzimbeni wakho. Oku kubangela ukuba i-ammonia iqokeleleke egazini lakho.
- Ezinye iingxaki zegazi: Iimeko ezifana ne-multiple myeloma kunye ne-acute leukemia nazo zinokubangela i-hyperammonemia.
- Ezinye izifo: Iintsholongwane ezibangelwa zizinto eziphilayo ezivelisa i-urease—ezifana neProteus mirabilis , i-Escherichia coli (E. coli) , kunye neKlebsiella —zinokukhokelela kwi-hyperammonemia enzima. Oku kuxhaphake kakhulu kubantwana abazelwe beneziphene zendlela yomchamo okanye kubantu abadala abanengxaki yokugcina umchamo ngenxa ye-UTIs.
Zithini iimpawu zeHyperammonemia?
Iimpawu zingahluka kakhulu ngokuxhomekeke kwiminyaka yakho kunye nobunzima bemeko yakho.
Iimpawu eziqhelekileyo ezibuthathaka kubantwana nakubantu abadala
- Isicaphucaphu nokuhlanza
- Intlungu zesisu
- Ukucaphuka
- Intloko ebuhlungu
- Ubunzima ngokulinganisela, ukulungelelanisa, okanye ukuthetha (ataxia)
- Utshintsho kwindlela yokuziphatha
Ezinye iimpawu ezibuthathaka ezichaphazela abantwana
- Ukungaphumeleli ukukhula
- Ubuthathaka bemisipha (hypotonia)
- Ukulibaziseka kophuhliso lwe-neurodevelopment
Iimpawu ezinzima kubantwana nakubantu abadala
Ezi ziimpawu ezilumkisayo kakhulu. Ukuba ufumana nayiphi na kwezi, funa uncedo lwezonyango ngokukhawuleza.
- Ukudideka kunye nokudideka
- Ukuhamba kweemvakalelo
- Ukulala kakhulu
- Utshintsho engqondweni
- Ukuxhuzula
- Ukuphefumla ngokukhawuleza (ukuphefumla ngokukhawuleza)
- I-Coma
Isilumkiso: Ukuba wena okanye umntu omthandayo nifumana ezi mpawu, nceda utsalele umnxeba ku-911 ngoko nangoko okanye uye kwisebe likaxakeka lesibhedlele elikufutshane. Amanqanaba aphezulu e-ammonia egazini abeka ubomi esichengeni kwaye afuna ukungenelela ngokukhawuleza kwezonyango.
Iimpawu kwiintsana ezisandul' ukuzalwa
Kwiintsana ezisandul’ ukuzalwa, i-hyperammonemia idla ngokuvela phakathi kweeyure ezingama-24 ukuya kuma-72 emva kokuzalwa:
- Ukucaphuka kunye nokukhala kakhulu
- Ukuhlanza
- Ukudinwa
- Ukuxhuzula
- Ukugquma xa uphefumla
- Ukuphefumla ngamandla
Kubalulekile: Ukuba umntwana wakho ubonakalisa ezi mpawu ngelixa usesesibhedlele, yazisa ugqirha wakho ngoko nangoko. Ukuba usekhaya, fowunela u-911 okanye uye kwigumbi likaxakeka elikufutshane ngoko nangoko. Musa ukulibazisa ukufuna unyango.
Iqela lezonyango laseNirogi Lanka lifumanisa njani oku?
Oogqirha badla ngokurhanela ukuba i-hyperammonemia iphezulu ngokujonga amanqanaba e-ammonia egazini lakho.
- Kwiintsana ezifikelela kwinyanga enye ubudala: Amanqanaba aphezulu kune-80 micromol/L ayaxhalabisa.
- Kubantwana abadala: Amanqanaba aphezulu kune-55 micromol/L ayaxhalabisa.
- Kwabantu abadala: Amanqanaba aphezulu kune-30 micromol/L ayaxhalabisa.
I-Micromol/L yiyunithi eqhelekileyo esetyenziselwa ukulinganisa ubungakanani be-ammonia egazini lakho.
Uvavanyo lokuxilonga
Isixhobo esiphambili sokuxilonga luvavanyo lwegazi lokulinganisa amanqanaba e-ammonia.
Ukuba amazinga aphezulu aqinisekisiwe, ugqirha wakho unokuyalela iimvavanyo ezongezelelweyo ukuze kuchongwe unobangela oyintloko, njengovavanyo lokusebenza kwesibindi , uvavanyo lokusebenza kwezintso , okanye uvavanyo lomchamo .
Ngenxa yokuba i-hyperammonemia inokonakalisa inkqubo yemithambo-luvo ephakathi kwaye ibe yingozi ebomini, ugqirha wakho unokucebisa novavanyo lwemifanekiso olufana ne -CT (computed tomography) scan okanye i -MRI (magnetic resonance imaging) ukujonga iingxaki zemithambo-luvo.
Ziziphi iindlela zonyango lwe-Hyperammonemia?
Unyango luxhomekeke ngokupheleleyo kwisizathu esiyintloko—nokuba yi-hepatic encephalopathy kumntu omdala onesifo sesibindi, okanye i-urea cycle disorder (UCD) kusana olusandul’ ukuzalwa.
Kwimeko ye-hyperammonemia ebukhali, injongo kukunciphisa amanqanaba e-ammonia egazini ngokukhawuleza nokulawula iingxaki ezifana ne-cerebral edema (ukudumba kobuchopho) kunye ne-intracranial hypertension.
- Kwiintsana ezisandul’ ukuzalwa, oogqirha baya kuyeka ukutya iiproteni (njengoko ukugaya iiproteni kuvelisa i-ammonia) baze banike iikhalori ngezisombululo zeglucose. I-Hemodialysis ingasetyenziselwa ukucoca igazi kusetyenziswa umatshini okhethekileyo kunye nesihluzi (esisebenza njengezintso zokwenziwa).
- Kwabo bane-UCD enzyme enqongopheleyo ebangelwa luxinzelelo, ukutya iiproteni kuyathintelwa ngelixa i-glucose inika inkxaso yeekhalori. I-Hemodialysis igcinelwe iimeko apho unyango lokuqala lungaphumeleli ukwehlisa amanqanaba e-ammonia kwiiyure ezimbalwa.
- Ukunyanga i-hepatic encephalopathy, ingqwalasela ikwizinga lokunciphisa ukuveliswa kwe-ammonia emathunjini. Unyango lokuqala luquka amayeza omlomo aqulethe i-lactulose okanye i-lactitol , enceda ekuthinteleni umzimba ekufunxeni i-ammonia.
Kwabo baneengxaki zomjikelo we-urea ezingapheliyo, oogqirha banokunika izongezo zokutya ezithile ukuthintela ukuphinda kuvele isifo, kuquka:
- I-L-carnitine
- I-L-ornithine-L-aspartate
- I-Arginine
Ngaba le meko ingathintelwa?
Ngenxa yokuba i-hyperammonemia inezizathu ezahlukeneyo, ayinakuthintelwa rhoqo. Nangona kunjalo, ungathatha amanyathelo okukhusela isibindi sakho kunye nempilo iyonke:
- Kuphephe okanye ukunciphisa ukusetyenziswa kotywala.
- Nciphisa ukutya amafutha e-trans kunye nesiraphu yombona ene-fructose eninzi.
- Lumka ngamayeza abhalwe ngugqirha nalawo athengiswa ngaphandle kwemvume ukuze uphephe ukuxinezeleka kwesibindi.
- Gcina umthambo rhoqo.
- Nciphisa ukusetyenziswa kwenyama ebomvu.
Ukuze uthintele iReye's syndrome ebantwaneni nakubantu abakwishumi elivisayo—imeko enokubangela i-hyperammonemia —ungaze unike i-aspirin xa uneempawu zentsholongwane (ezifana nomkhuhlane okanye i-chickenpox) ngaphandle kokuba ugqirha ekuxelele ngokucacileyo.
I-Urea Cycle Disorders (UCDs) ayixhaphakanga, kodwa uvavanyo lwe-genetic luyafumaneka ukuze kuqinisekiswe ukuba unee-genes ezibangela ezi meko. Nceda udibane nogqirha wakho ukuze uxoxe ukuba olu vavanyo lufanelekile na kuwe.
Ithini ingqikelelo yale meko?
Isiqinisekiso sokuba i-hyperammonemia iza kuphinda ivele—okanye indlela oza kuphila ngayo—sixhomekeke kwizinto ezininzi ezibalulekileyo:
- Ubunzima bokunyuka kwe-ammonia yakho.
- Ixesha apho amanqanaba akho e-ammonia ehlala ephakanyisiwe.
- Isizathu esiyintloko sezonyango se-hyperammonemia.
Ngokubanzi, uqikelelo lwe-hyperammonemia lunokukhuselwa. Ukuba unyango lulibaziseka okanye alunikwa, ukudumba kwengqondo okungenakuguqulwa kunokukhokelela kwizinga eliphezulu lokufa. Ngelishwa, kwiintsana ezisandul’ ukuzalwa ezine-hyperammonemia enzima, nokuba kungenelelo oluqatha nolukhawulezileyo alusoloko luqinisekisa iziphumo ezilungileyo.
E-United States, izigulane ezine-UCDs ezifumana i-hyperammonemia kwasebuntwaneni zinezinga lokusinda leminyaka eli-11 elimalunga nama-35%. Kwabo bafumana i-hyperammonemia kamva ebomini, eli thuba lokusinda linyuka liye kuma-87%.
Kubantu abafumana isifo sesibindi esinzima ngenxa ye-hyperammonemia, amazinga okusinda kunyaka omnye nemithathu axelwe kwi-42% kunye ne-23%, ngokulandelanayo.
Ziziphi iingxaki ezinokubakho ze-hyperammonemia?
Ukuba le meko ayinyangwa ngokukhawuleza, amanqanaba aphezulu e-ammonia anokonakalisa inkqubo ye-nervous central, nto leyo ekhokelela kwiingxaki ezisongela ubomi, kuquka:
- Ukudumba kobuchopho (ukudumba kobuchopho)
- Uxinzelelo lwegazi oluphezulu ngaphakathi kwentloko (uxinzelelo oluphezulu ngaphakathi kwentloko)
- Ukuqhekeka kobuchopho – kudla ngokubangelwa kukudumba okukhulu kobuchopho kunye noxinzelelo oluphezulu.
- I-Coma
- Ukufa
Ukuba ufumana i-hyperammonemia engapheliyo, usenokuba sengozini yokukhubazeka kwengqondo ixesha elide kunye nemingeni yokuziphatha okanye yengqondo eqhubekayo.
Ufanele uye nini kugqirha?
Ukuba wena okanye umntu omthandayo ubonakalisa iimpawu ze-hyperammonemia, fowunela u-911 okanye uye kwisebe likaxakeka elikufutshane nawe ngoko nangoko. Musa ukulibazisa ukufuna unyango.
Ukuba unesifo sesibindi okanye unesiphene esincinci kwi-enzymes zomjikelo we-urea, kubalulekile ukuba uhlale ujongwa rhoqo ngugqirha wakho ukuze ulawule imeko yakho kwaye ujonge amanqanaba akho e-ammonia ngokufanelekileyo.
I-Hyperammonemia yimeko enzima enezizathu ezahlukeneyo ezisisiseko. Ukuba wena, umntwana wakho, okanye usana lwakho lubonisa iimpawu, funa uncedo lwezonyango ngokukhawuleza. Ukuba unesifo sesibindi okanye imbali yosapho lwakho ye-UCDs, xoxa ngezinto ezikubangela umngcipheko nogqirha wakho. UNirogi Lanka ulapha ukukunceda kuhambo lwakho lwempilo.
Iingcinga zokugqibela ekufuneka uzikhumbule
Ukushwankathela, nazi iingongoma ezibalulekileyo ekufuneka uzikhumbule:
- I-Hyperammonemia yenzeka xa amanqanaba e-ammonia egazini enyuka aye kumanqanaba ayingozi, nto leyo eyingozi kakhulu engqondweni yakho nakwinkqubo yemithambo-luvo.
- Inezizathu ezininzi ezinokubangela oku, apho ukungasebenzi kakuhle kwesibindi kunye ne-Urea Cycle Disorders (UCDs) zezona zinto ziphambili ezibangela oku.
- Iimpawu ziyahluka ngokweminyaka nangobunzima, ukusuka kwimiba emincinci efana nokucaphuka, ukuhlanza, kunye nentloko ebuhlungu ukuya kwiimpawu ezinzima ezifana nokudideka, ukuxhuzula, kunye ne-coma. Soloko ulumkile malunga neempawu kwiintsana ezisandula ukuzalwa.
- Ukuba kukho iimpawu eziqatha, funa uncedo lwezonyango ngoko nangoko. Oku kungaba yimeko yokufa okanye ubomi.
- Unyango lwenzelwe unobangela oyintloko. Ukungenelela ngokukhawuleza kugxile ekunciphiseni amanqanaba e-ammonia kunye nokulawula iingxaki.
- Nangona ezinye izizathu zingenakuthintelwa, ukugcina indlela yokuphila esempilweni kunye nokujonga impilo yesibindi sakho kunokunceda ekunciphiseni iingozi ezithile.
- Ukuba unesifo sesibindi okanye unembali yosapho lwakho ye-UCDs, uhlolo lwezonyango rhoqo lubalulekile.
Khumbula, uyazi kakuhle impilo yakho. Ukuba ubona naluphi na utshintsho okanye iimpawu ezingaqhelekanga, ungathandabuzi ukubonana nogqirha. Silapha ukukunceda.
I-Hyperammonemia, i-ammonia, isibindi, umjikelo we-urea, ubuchopho, iimpawu, unyango
