Ingaba une-ammonia eninzi egazini lakho? Masifunde ngemeko eyingozi ye-hyperammonemia!

Zininzi izinto ezenzekayo emizimbeni yethu, akunjalo? Ngamanye amaxesha, xa ezi nkqubo zingasebenzi kakuhle, iingxaki ezinkulu zinokuvela. Umzekelo, i-hyperammonemia yimeko enzima eyenzeka xa imveliso yenkunkuma ebizwa ngokuba yi-ammonia isanda egazini lethu. Kubaluleke kakhulu ukuqaphela oku kuba kunokuba nefuthe elikhulu ebomini bakho ukuba ayinyanyekelwa kakuhle.

Yintoni iHyperammonemia?

Ngamafutshane, i-hyperammonemia iyenzeka xa amanqanaba e-ammonia egazini lakho ephezulu ngendlela engaqhelekanga. I-Ammonia, okanye i-NH3, yinkunkuma eveliswa emathunjini ethu xa sigaya iiproteni esizityayo. Ngokwesiqhelo, le ammonia iya esibindini sethu ize icutshungulwe apho. Le nkqubo siyibiza ngokuba yi-urea cycle . Ngale cycle, i-ammonia iguqulwa ibe yinto engenabungozi kangako ebizwa ngokuba yi-urea kwaye ikhutshwe kumchamo. Nangona kunjalo, ukuba kukho into engahambi kakuhle kule cycle ye-urea, okanye ukuba isibindi asikwazi ukuyicubungula kakuhle le ammonia, i-ammonia iqala ukuqokelelana egazini. Oku kwanda kwe-ammonia egazini kuyingozi kakhulu kwi -Central Nervous System (CNS) yethu, eyingqondo kunye nomqolo. Yiyo loo nto i-hyperammonemia yimeko efuna unyango olukhawulezileyo kwaye inokuba yingozi ebomini .

Ngubani onokuphuhlisa oku kakhulu?

Le meko, ebizwa ngokuba yi-hyperammonemia, inokuchaphazela iintsana ezisandul’ ukuzalwa, abantwana abancinci, kunye nabantu abadala.

• Kubantu abadala, malunga nama-90% abo banesifo esinjalo ngabo bane -cirrhosis yesibindi .
• Iintsana ezisandul’ ukuzalwa zinokukhula oku kuba zizalwa zinesiphako kumjikelo we-urea (isifo somjikelo we-urea esizalwa naso) . Ezi ziimeko zemfuza.
• Kwakhona, ukungasebenzi kakuhle kwesibindi kunye nezifo ze-metabolic ezizuzwe njengelifa zinokubangela i-hyperammonemia kubantwana abancinci.

Kunzima ukutsho ukuba oku kuqheleke kangakanani na, kuba kunokubangelwa zizinto ezahlukeneyo. Kodwa abaphandi baqikelela ukuba iingxaki zomjikelo we-urea, enye yezizathu, zichaphazela umntwana omnye kwi-250,000 ezizelwe eMelika kunye nomntwana omnye kwi-440,000 ezizelwe kwihlabathi liphela.

Zithini izizathu ze-hyperammonemia?

Kunokubakho izizathu ezininzi zoku. Ezi zizathu zinokutshintsha ngokuhamba kweminyaka. Kodwa ngokubanzi, ezimbini zezona zizathu ziphambili ziingxaki zesibindi kunye nokuphazamiseka komjikelo we-urea (ii-UCD) .

Ngenxa yeengxaki zesibindi

Isibindi sethu sisitho esiphambili esiguqula i-ammonia ibe yi-urea. Ngoko ke ukuba isibindi sonakele okanye sinesifo, asikwazi ukuyicubungula kakuhle i-ammonia. Kulapho i-ammonia iqokelelana egazini. Nazi ezinye zeemeko ezinxulumene nesibindi ezinokubangela i-hyperammonemia:

• Isifo sesibindi : Xa isibindi sonakele , amandla aso okucubungula i-ammonia ayancitshiswa. Oku kuxhaphake kakhulu kwisifo sesibindi esinzima, kodwa nakubantu abanesifo sesibindi esizinzileyo, amanqanaba e-ammonia ngamanye amaxesha anokunyuka ngequbuliso, umzekelo, ukuba kukho into eyenzekayo esiswini okanye emathunjini ( ukopha kwesisu) okanye ukuba kukho ukungalingani kwe-electrolyte . Le yeyona nto ibangela amanqanaba aphezulu e-ammonia kubantu abadala nakubantwana.
• I-Hepatic encephalopathy : Oku kwenzeka xa isibindi sonakele kwaye singakwazi ukuyiphatha kakuhle i-ammonia. I-Ammonia iqokelelana egazini ize iye engqondweni. Oku kunokubangela ukudideka, ukudideka , kwanokukhubeka. Ngamanye amaxesha inokubulala.
• I-Cirrhosis yesibindi: I-Cirrhosis kukutshintsha izicubu zesibindi eziphilileyo ngezicubu ezibomvu. Oku kunokubangela ukuba isibindi singasebenzi kakuhle kwaye kunokukhokelela kwi-hyperammonemia. I-Cirrhosis sisifo sesibindi esingapheliyo.
• Ukungasebenzi kakuhle kwesibindi: Kulapho isibindi siyeka ukusebenza ngequbuliso. Oku kunokubangelwa zizifo ezahlukeneyo kunye neemeko ezahlukeneyo. Umzekelo, ukwenzakala kwesibindi okubangelwa ngamayeza okubangelwa ngamayeza athile, afana ne -acetaminophen , kubangela i-50% yazo zonke iimeko zokungasebenzi kakuhle kwesibindi eMelika. Kubangela i-64% yamatyala e-hyperammonemia ebantwaneni.
• Ukuncipha kokuhamba kwegazi esibindini sakho: Ukuba igazi alihambi kakuhle esibindini sakho, umzimba awukwazi ukuthumela i-ammonia esibindini ukuze icutshungulwe. Nangona kunjalo, i-ammonia iyanda egazini.
• Isifo sikaReye:Le yimeko engaqhelekanga kakhulu. Ichaphazela igazi, ingqondo, nesibindi. Idla ngokubangela amanqanaba aphezulu e-ammonia egazini kunye namanqanaba aphantsi e-glucose egazini. Idla ngokuchaphazela abantwana abancinci kunye nabakwishumi elivisayo abaphola kwiintsholongwane ezifana ne-chickenpox okanye i-flu/influenza kwaye abaye bathatha i-aspirin ngenxa yezo mpawu. Isizathu esichanekileyo se-Reye's syndrome asaziwa. Nangona kunjalo, ngenxa yale ngozi, i-aspirin akufanele inikwe abantwana abancinci kunye nabakwishumi elivisayo ngaphandle kokuba icetyiswe ngugqirha ngokukodwa.

Ngenxa yeengxaki zomjikelo we-Urea (UCDs)

Njengoko besikhe sathetha ngaphambili, umjikelo we-urea yinkqubo apho i-ammonia enobuthi iguqulwa ibe yi-urea ize ikhutshwe emchameni. Lo mjikelo unamanyathelo aliqela, ngalinye lifuna uhlobo olwahlukileyo lwe-enzyme. Ezi enzymes zezi:

• 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 enye yezi enzyme ayinazo izakhamzimba, umjikelo we-urea awusebenzi kakuhle. I-Ammonia iyanda egazini. Olu hlobo lokungabikho kwee-enzyme lubizwa ngokuba yi-urea cycle disorder (UCD). Ii-UCD zinokubangela i-hyperammonemia, enokuba yi-acute okanye i-chronic. Ii-UCD ziimeko zokuzalwa. Iintsana ezisandula ukuzalwa ezine-acute hyperammonemia zidla ngokuba ne-acute hyperammonemia kwiiyure ezingama-24 ukuya kuma-72 zokuzalwa. Nokuba ukungabikho kwee-enzyme kuncinci okanye kuncinci, ukwakheka kwe-ammonia kunokwenzeka nangaliphi na ixesha ebomini, ngexesha lokugula, uxinzelelo, okanye ezinye iziganeko ezixinzelelekileyo. Ezi UCD zibanga i-23% yamatyala e-acute hyperammonemia kubantwana abancinci abagula kakhulu.

Ezinye izizathu

Ngaphandle koku, kunokubakho ezinye izizathu ezininzi:

• Ukungasebenzi kakuhle kwezintso (izintso): Ukuba izintso azikwazi ukukhupha i-urea ngokufanelekileyo ngenxa yokungasebenzi kakuhle kwezintso, oku kunokubangela ukuba i-ammonia iqokelele egazini.
• Ezinye iingxaki zegazi: I-Hyperammonemia inokubangelwa zizifo zegazi ezifana ne-multiple myeloma kunye ne-acute leukemia.
• Ezinye izifo: izinto eziphilayo ezivelisa i-urease ezifana neProteus mirabilis , i-Escherichia coli (E. coli) kunye neKlebsiellaIintsholongwane ezifana ne-streptococci, ingakumbi kubantwana abaneziphene zomchamo wokuzalwa kunye nakubantu abadala abagcina umchamo ngenxa yezifo zomchamo (UTIs), zinokubangela i-hyperammonemia enzima.

Zithini iimpawu zeHyperammonemia?

Iimpawu zingahluka kakhulu ngokuxhomekeke ekubeni imeko ilula okanye inzima kangakanani, kunye nobudala eqala kubo.

Iimpawu ezibuthathaka zixhaphakile ebantwaneni nakubantu abadala

• Isicaphucaphu nokuhlanza
• Intlungu yesisu
• Ukucaphuka rhoqo
• Intloko ebuhlungu (intloko ebuhlungu)
• Ubunzima ngokulinganisela, ukulungelelanisa, kunye nentetho (ataxia)
• Utshintsho kwindlela yokuziphatha

Ezinye iimpawu ezibuthathaka ezichaphazela abantwana kuphela

• Ukungaphumeleli ukukhula
• Ubuthathaka bemisipha (hypotonia)
• Ukulibaziseka kophuhliso lwe-neurodevelopment

Iimpawu ezinzima kubantwana nakubantu abadala

Ezi ziimpawu eziyingozi kakhulu. Ukuba unayo nayiphi na kwezi, kufuneka ufune ingcebiso kagqirha ngokukhawuleza.

• Ukudideka kunye nokudideka
• Ukuhamba kweemvakalelo
• Ukulala kakhulu
• Utshintsho engqondweni
• Ukuxhuzula
• Ukuphefumla ngokukhawuleza (ukuphefumula kakhulu)
• I-Coma

Isilumkiso: Ukuba wena okanye umntu osondeleyo kuwe unezi mpawu, nceda utsalele umnxeba ku-911 ngoko nangoko, okanye uye kwicandelo likaxakeka lesibhedlele esikufutshane nawe. Amanqanaba aphezulu e-ammonia egazini asongela ubomi kwaye afuna unyango olukhawulezileyo!

Iimpawu kwiintsana ezisandul’ ukuzalwa

Ukuba usana olusandul’ ukuzalwa luchaphazeleka yi-hyperammonemia, ezi mpawu zilandelayo zihlala zibonakala kwiiyure ezingama-24 ukuya kuma-72 emva kokuzalwa:

• Ukucaphuka rhoqo, ukukhala rhoqo
• Ukuhlanza
• Ukudinwa
• Ukuxhuzula
• Ukugquma xa uphefumla
• Ukuphefumla ngokukhawuleza (ukuphefumula kakhulu)

Kubalulekile: Ukuba umntwana wakho ubonakalisa ezi mpawu, fowunela ugqirha ngokukhawuleza ukuba usesesibhedlele. Ukuba usekhaya, fowunela i-911 ngokukhawuleza, okanye umse esibhedlele esikufutshane. Asikuko ukulibazisa oku.

Oogqirha bayixilonga njani le nto?

Oogqirha badla ngokurhanela ukuba i-hyperammonemia iphezulu ngokuvavanya amanqanaba e-ammonia egazini.

• Kwiintsana ezifikelela kwinyanga enye ubudala, ukuba inqanaba le-ammonia egazini lingaphezulu kwe-80 micromol/ilitha (80 micromol/L).
• Kubantwana abadala, ukuba ingaphezulu kwe-55 micromol/ilitha (55 micromol/L).
• Kwabantu abadala, ukuba ingaphezulu kwe-30 micromol/ilitha (30 micromol/L).

Le yunithi yokulinganisa (i-micromol/L) yindlela yokulinganisa ubungakanani be-ammonia egazini.

Zeziphi iimvavanyo ezenziwayo ukuze kubonwe oku?

Uvavanyo oluphambili luvavanyo lwegazi olulinganisa inqanaba le-ammonia egazini lakho. Ukuba inqanaba lakho le-ammonia liphezulu, ugqirha wakho angenza ezinye iimvavanyo ukufumana unobangela. Umzekelo, uvavanyo lwegazi ukujonga ukusebenza kwesibindi sakho kunye nokusebenza kwezintso , kunye novavanyo lomchamo . Ngenxa yokuba i-hyperammonemia inokonakalisa inkqubo yemithambo-luvo ephakathi kwaye ibe yingozi ebomini, ugqirha wakho angenza novavanyo lwemifanekiso, olufana ne -CT (computed tomography) scan okanye i-MRI (magnetic resonance imaging) scan, ukujonga iingxaki ezichaphazela ingqondo.

Ziziphi iindlela zonyango lwe-hyperammonemia?

Unyango luxhomekeke kwisizathu. Umzekelo, kumntu omdala, kungenxa yesifo sesibindi okanye i-hepatic encephalopathy, okanye kusana olusandul’ ukuzalwa, kungenxa yesifo somjikelo we-urea (UCD). Kwi-acute hyperammonemia, injongo ephambili kukunciphisa amanqanaba e-ammonia egazini nokulawula iingxaki ezithile ezifana ne-cerebral edema kunye noxinzelelo olongezelelekileyo olujikeleze ingqondo (i-intracranial hypertension).

• Ukuba usana olusandul’ ukuzalwa lune-hyperammonemia, oogqirha baya kuyeka ukumnika iproteni (kuba i-ammonia iveliswa xa iproteni ityiwa) endaweni yoko banike i-glucose, isisombululo seswekile, ukuze banike iikhalori. Baza kusebenzisa nenkqubo ebizwa ngokuba yi-hemodialysis . Oku kuquka ukucoca igazi lomntwana kunye nokususa i-ammonia ngomatshini we-dialysis kunye nesihluzo esikhethekileyo (njengezintso zokwenziwa).
• Abantu abane-partial urea cycle enzyme deficiency (UCD) abafumana i-hyperammonemia ngenxa yoxinzelelo, njenge-stress-induced hyperammonemia, nabo banikwa i-protein offset kunye ne-glucose njengee-calories. I-Hemodialysis yenziwa kuphela ukuba amanqanaba abo e-ammonia awanciphi kwiiyure ezimbalwa emva konyango lokuqala.
• Unyango lwe-hepatic encephalopathy kukunciphisa ukuveliswa kwe-ammonia emathunjini. Unyango lokuqala ngamayeza omlomo aqulethe i-lactulose kunye ne-lactitol . Ezi swekile zinciphisa ukuveliswa kunye nokufunxwa kwe-ammonia emathunjini.

Oogqirha banokucebisa izongezo zokutya ezifana nezi ukunceda abantu abaneengxaki zomjikelezo we-urea ukunciphisa ukuvela kweempawu zabo:

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

Ngaba zikho iindlela zokuphepha le meko?

Ngenxa yokuba zininzi izinto ezibangela i-hyperammonemia, ayizizo zonke iimeko ezinokuthintelwa. Nangona kunjalo, ungathatha amanyathelo okuthintela ezinye iintlobo zesifo sesibindi, ingakumbi ezo zinxulumene nokutya kwakho nendlela ophila ngayo. Ukuba usengozini yesifo sesibindi, ugqirha wakho unokucebisa ukuba wenze olu tshintsho kwindlela ophila ngayo:

• Kulungile ukuphepha okanye ukunciphisa ukusetyenziswa kotywala.
• Ziphephe ukutya neziselo eziqulethe amafutha e-trans okanye isiraphu yombona ene-fructose eninzi.
• Ukuze uphephe ukonakala kwesibindi, lumka kakhulu xa usebenzisa amayeza kagqirha namayeza athengiswa ngaphandle kwemvume kagqirha.
• Ukuzilolonga rhoqo .
• Ukunciphisa ukusetyenziswa kwenyama ebomvu.

Ukuze uthintele i-Reye's syndrome, imeko ebangela i-hyperammonemia ebantwaneni nakubantu abadala abancinci, musa ukunika abantwana i-aspirin xa benophawu losulelo lwentsholongwane (njengomkhuhlane okanye i-chickenpox) ngaphandle kokuba ugqirha encomele ngokukodwa. Iingxaki zomjikelo we-urea (UCDs) aziqhelekanga, kodwa kukho uvavanyo lwe-genetic ukuze ubone ukuba unazo na ii-genes ezizibangelayo. Thetha nogqirha wakho ngale nto.

Ithini ingqikelelo yale meko?

Imbonakalo ye-hyperammonemia, oko kukuthi, amandla okubuyisela, ixhomekeke kwizinto ezininzi:

• Amanqanaba akho e-ammonia aphakame kangakanani.
• Ixesha elide kangakanani inqanaba le-ammonia liphakanyisiwe.
• Yintoni ebangela i-hyperammonemia?

Ngokubanzi, imbonakalo ye-hyperammonemia ayintle. Ukuba ayinyangwa okanye inyangwa kade, ukudumba kwengqondo okungenakuguqulwa kunxulunyaniswa nezinga eliphezulu lokufa. Ngelishwa, nokuba umntwana osandul’ ukuzalwa unyangwa ngokukhawuleza okanye ngogonyamelo kangakanani nge-hyperammonemia enzima, akukho siqinisekiso sokuba isiphumo siya kuba sihle. E-United States, izinga lokusinda leminyaka eli-11 kubantu abane-urea cycle defects (UCDs) abafumana i-hyperammonemia kwasebuncinaneni limalunga ne-35%. Kwabo bafumana i-hyperammonemia kamva ebomini, izinga lokusinda limalunga ne-87%. Amazinga okusinda konyaka omnye kunye neminyaka emithathu yezigulane ezine-hepatic encephalopathy enzima ngenxa ye-hyperammonemia kubikwe ukuba yi-42% kunye ne-23%, ngokwahlukeneyo.

Ziziphi iingxaki ezinokubakho ze-hyperammonemia?

Ukuba le meko ayinyangwa ngokukhawuleza, amanqanaba aphezulu e-ammonia anokonakalisa inkqubo yemithambo-luvo kwaye akhokelele kwiingxaki ezisongela ubomi. Ezi ngxaki ziquka:

• Ukudumba kobuchopho
• Uxinzelelo oluphezulu olujikeleze ingqondo (i-Intracranial hypertension)
• Ukuqhekeka kobuchopho – Oku kudla ngokubangelwa kukudumba kwengqondo kunye noxinzelelo oluphezulu olujikeleze ingqondo.
• I-Coma
• Ukufa

Ukuba umntu une-hyperammonemia engapheliyo ixesha elide, unokuba nokukhubazeka kwengqondo kunye neengxaki ezingapheliyo zokuziphatha nezengqondo.

Sifanele siye kugqirha nini?

Ukuba wena okanye umntu omkhathaleleyo uneempawu ze-hyperammonemia, fowunela u-911 ngoko nangoko okanye uye esibhedlele esikufutshane. Oku akuyonto yokulibazisa. Ukuba unesifo sesibindi okanye uswele i-enzyme yomjikelo we-urea, kubaluleke kakhulu ukubona ugqirha wakho rhoqo ukuze alawule imeko yakho kwaye ajonge amanqanaba akho e-ammonia.

I-Hyperammonemia yimeko enzima enokubangelwa zizinto ezininzi. Ukuba wena, umntwana wakho, okanye umntwana wakho ninezi mpawu, funa uncedo ngokukhawuleza. Ukuba unesifo sesibindi, okanye ukuba umntu kusapho lwakho uneengxaki zokujikeleza kwe-urea (UCDs), thetha nogqirha wakho malunga nomngcipheko wakho wokuba ne-hyperammonemia. Bakho ukukunceda.

Okokugqibela, khumbula oku.

Kulungile, nazi ezinye zezinto ezibalulekileyo ekufuneka uzikhumbule koko sithethe ngako:

• I-Hyperammonemia lizinga eliphezulu kakhulu le-ammonia egazini. Oku kuyingozi kakhulu kwingqondo yethu nakwinkqubo yemithambo-luvo.
• Kunokubakho izizathu ezininzi zoku. Iingxaki zesibindi kunye nokuphazamiseka komjikelo we-urea (ii-UCD) zezona zizathu ziphambili.
• Iimpawu ziyahluka ngokuxhomekeke kubunzima bemeko kunye nobudala. Zinokwahluka ukusuka kwiimpawu ezingephi ezifana nokucaphuka, ukuhlanza, kunye nentloko ebuhlungu ukuya kwiimpawu ezibi ngakumbi ezifana nokudideka, ukuxhuzula, kunye nokukhohlela. Abantwana abasandul' ukuzalwa kufuneka bakhathazeke ngokukodwa ngeempawu zabo.
• Ukuba uneempawu eziqatha, kufuneka ufune ingcebiso kagqirha ngokukhawuleza. Oku kungaba yimeko ethetha ubomi okanye ukufa.
• Unyango luxhomekeke kwisizathu. Unyango olukhawulezileyo lunokunciphisa amanqanaba e-ammonia kunye nokulawula iingxaki.
• Nangona ezinye izizathu zingenakuthintelwa, ezinye iingozi zingancitshiswa ngokugcina indlela yokuphila enempilo nokunyamekela isibindi sakho .
• Nokuba unesifo sesibindi okanye umntu osapho lwakho une-UCDs, kubalulekile ukuba uhlolwe rhoqo ngugqirha.

Ungalibali, uyazi kakuhle impilo yakho. Ukuba uziva into eyahlukileyo okanye engaqhelekanga, ungoyiki ukuthetha nogqirha. I-Hyperammonemia, i-ammonia, isibindi, umjikelo we-urea, ubuchopho, iimpawu, unyango