Wi bɔdi de wok biɛn di tin dɛn ɔltɛm, nɔto so? Wan wan tɛm, we dɛn kɔmpleks bayolojikal prɔses ya kin ambɔg, i kin mek pɔsin gɛt siriɔs wɛlbɔdi prɔblɛm. Wan pan dɛn kayn bad bad tin ya na Hyperammonemia , we kin apin we wan pɔyzin we dɛn kɔl amonia gɛda na yu blɔd. Bikɔs dis sik kin mek pɔsin in layf de pan denja if dɛn nɔ ebul fɔ mɛn am kwik kwik wan, i rili impɔtant fɔ mek wi no bɔt am.
Wetin na Hyperammonemia?
Fɔ tɔk am simpul wan, haypaammonemia na di denja we di amonia (NH3) lɛvɛl de go ɔp na yu blɔd. Amonia na bayprodukt we dɛn kin mek na yu insay we yu bɔdi de dayjɛst di prɔtin dɛn we yu de it. Nɔmal wan, yu liva kin prosɛs dis amonia tru wan sikwins we dɛn kɔl di Yuria Saykl . dis saykl de kכnvכlt di amonia to yuria, we nכ de du bכku bכku wan we de kכmכt sef wan kכmכt na yu bכdi insay yu urine.
Bɔt if sɔntin ambɔg dis yuria saykl ɔ if yu liva nɔ ebul fɔ prosɛs amonia fayn fayn wan, i kin bigin fɔ gɛda na yu blɔd. If yu gɛt bɔku amonia na di blɔd, dat kin rili pɔyzin yu Sɛntral Nɛvɔs Sistɛm (CNS) —yu bren ɛn yu spɛnal kɔd. Dis na di rizin we mek haypaammonemia na mɛdikal imejensi we nid fɔ mek dɛn du sɔntin wantɛm wantɛm ɛn i kin mek pɔsin in layf de pan denja.
Udat dɛn de pan denja pas ɔlman?
Hyperammonemia kin afɛkt ɛnibɔdi, frɔm pikin dɛn we dɛn jɔs bɔn ɛn pikin dɛn to big pipul dɛn.
- Na big pipul, lɛk 90% pan di kes dɛm kin gɛt fɔ du wit Sirosis ɔf di liva .
- pan nyu bכn pikin dεm, i kin kכz fכ wan congenital urea cycle disorder , we na inhεrit jεnεtik kכndishכn.
- pan yכŋ pikin dεm, i kin apin bak bikoz fכ di liva we de fεl bad bad wan כ כda mεtabolik sik dεm we dεn kin gεt wit dεn mεtabolik.
Pan ɔl we i nɔ izi fɔ no di rayt frɛkuɛns bikɔs ɔf di difrɛn tin dɛn we kin mek i apin, risach dɔn sho se as di men tin, Yuria Saykl Disɔda (UCD) kin afɛkt lɛk 1 pan ɛvri 250,000 pikin dɛn we dɛn bɔn na Amɛrika, ɛn lɛk 1 pan ɛvri 440,000 pikin dɛn we dɛn bɔn na di intanashɔnal.
Wetin kin mek pɔsin gɛt Hyperammonemia?
Bɔku tin dɛn de we kin mek i apin, we kin difrɛn bay di ej we pɔsin ol. כltu, jεnarali, di tu praymar kεtכgrεf dεm na di liva disfכnkshכn εn Yuria Saykl Dizכrd (UCD) .
Tin dɛn we gɛt fɔ du wit di liva
yu liva na di praymar כgan we de rispansabl fכ kכnvכlt amonia to yuria. If yu liva dɔn pwɛl ɔ i sik, i nɔ de ebul fɔ prosɛs amonia fayn fayn wan, ɛn dis kin mek i bɔku na yu blɔd.
Di tin dɛn we kin mek pɔsin gɛt haypa amɔnimia na:
- Liva sik : We yu liva dɔn pwɛl , di pawa we i gɛt fɔ prosɛs amonia kin pwɛl. pan tap we i kin kכmכn pasmak pan siriכs sik, ivin dεn wan dεm we gεt stebul krεse liva kכndishכn kin gεt sכdεn spayk in amonia biכs fכ tin dεm lεk gεstrointestinal bכdi כ εlektrolayt imbalans (εgz., i gεt fכ s כlt lεvεl). Liva sik stil de bi di men tin we kin mek di amonia bɔku pan pikin ɛn big pipul dɛn.
- Hepatic encephalopathy : Dis kin apin we di liva damej de mek amonia gɛda ɛn rich na di bren, we kin mek yu gɛt sɔm sayn dɛm lɛk kɔnfyushɔn, disorientation , ɛn ivin kɔma. Dis kin kil pɔsin if dɛn nɔ trit am.
- Sirosis na di liva:sirosis involv fכ riples di hεlty liva tisu wit ska tisu, we de bכku bכku wan we de mek di liva wok fayn εn i kin mek i gεt haypaammonemia.
- Akyu liva fεil: Dis na we di liva nɔ de wok fayn wantɛm wantɛm. fכ egzampl, di injuri we dεn kin gεt wit dכg, lεk frכm di ovados we dεn tek asetaminophen , de mek 50% pan di akyu liva fεil kes dεm na di US Insay pikin dεm, 64% pan di akyu liva fεil kεys dεm, 64% pan di akyu liva fεil kεys dεm de kכl akyu liva fεil.
- di bכdi we de fכlכ na yu liva dכn dכn: If di liva nכ gεt di bכdi fכ fכlכ fayn, i nכ kin ebul fכ filta εn proses di amonia fayn fayn wan, we kin mek di sistεm bכku.
- Reye’s syndrome: Dis na wan sik wae nɔr kin bɔrku, wae kin mek yu liva ɛn yu bren swel. Bɔku tɛm i kin mek di amonia bɔku ɛn di glukɔs na di blɔd nɔ bɔku. Dɛn kin si am mɔ pan pikin ɛn titi dɛn we de wɛl frɔm vayral infɛkshɔn lɛk chikinpoks ɔ di flu, mɔ we dɛn dɔn yuz aspirin . Bikɔs ɔf dis risk, nɔ ɛva gi pikin dɛn ɔ titi dɛn aspirin pas nɔmɔ dɔktɔ tɛl dɛn klia wan.
Yuria Saykl Disɔda (UCD) .
As wi bin se, di yuria saykl na di prכsεs we de kכnvכlt tכxik amonia to yuria. dis prכsεs de involv sεvεra stεp dεm, εvri wan nid wan spεshal εnzym, we inklud:
- N-asetil-glutamεt sεntez (NAGS) .
- Kabamoyl fosfεt sεntez (CPS) .
- Ɔrnitin transkarbamaylɛz (OTC) .
- Argininosuccinate sintetaz (AS) we dɛn kɔl .
- Argininosuksinik asid lyaz (ASL) .
- Arginaz (ARG1) we dɛn kɔl .
if eni wan pan dεn εnzym dεm ya nכ de, di saykl de fεl, εn amonia de kכmכt. dis jεnεtik kכndyushכn dεm we dεn kכl UCD kin mek כl tu di akyu εn krכnik haypaammonemia.
UCD dεm de de frכm we dεn bכn am. di nyu bכn pikin dεm we gεt komplit εnzym dεfichεns kin divεlכp akyu haypaammonemia insay 24 to 72 awa afta dεn bכn dεm. If di deficiency na pat ɔr smɔl, di sayn dɛm kin kam leta na layf bikɔs ɔf sik ɔr strɛs. UCD dεm de rispansabl fכ 23% pan di akyu haypaammonemia kes dεm na pikin dεm we sik bad bad wan.
Ɔda Tin dɛn we De Mek
Apat frɔm di tin dɛn we wi dɔn tɔk bɔt, bɔku ɔda tin dɛn de we kin mek i apin:
- Kidni (rεnal) fεil: We yu kidni dεm fεl, dεn nכ kin filta yuria fayn fayn wan frכm yu bכdi. Dis kin mek amonia bɔku na yu blɔd.
- Sɔm blɔd dizayd: Kɔndishɔn lɛk mɔltipɛl mayloma ɛn akyu lukimiya kin mek bak gɛt haypaammonemia.
- Sɔm infɛkshɔn dɛn: Infɛkshɔn we ɔrganizm dɛn we de mek yuriaz—lɛk Proteus mirabilis , Escherichia coli (E. coli) , ɛn Klebsiella — kin mek pɔsin gɛt siriɔs aypaammonemia. Dis kin apin mɔ pan pikin dɛn we dɛn bɔn wit urinary tract defects ɔ pan ol pipul dɛn we de sɔfa wit urinary retention bikɔs ɔf UTI.
Wetin na di sayn dɛm fɔ Hyperammonemia?
Di sayn dɛm kin difrɛn bad bad wan bay yu ej ɛn aw yu sik tranga.
Kɔmɔn smɔl smɔl sayn dɛm na pikin ɛn big pipul dɛm
- Nɔs ɛn vɔmit
- Pɔsin we de fil pen na di bɛlɛ
- Di we aw pɔsin kin vɛks
- Ed de at
- I nɔ izi fɔ balans, fɔ kɔdinɛt, ɔ fɔ tɔk (ataxia) .
- Di we aw pipul dɛn de biev kin chenj
Ɔda mild simptom dɛm we spɛshal fɔ pikin dɛm
- Fɔ nɔ ebul fɔ go bifo
- Di mɔsul dɛn we wik (hypotonia) .
- Nyurodivεlכpmεnt dilay dεm
Sivεr sayn dεm na pikin dεm εn big pipul dεm
Dis na siriɔs wɔnin sayn dɛn. If yu gɛt ɛni wan pan dɛn tin ya, go to dɔktɔ wantɛm wantɛm.
- Kɔnfyushɔn ɛn disorienteshɔn
- Di we aw pɔsin de fil kin chenj
- Fɔ slip pasmak
- Di chenj dɛn we de apin na di kɔnshɛns
- Di sik dɛn we kin mek pɔsin sik
- Hyperventilation (we yu de blo kwik kwik wan) .
- Kɔma
Wonin: If yu ɔ pɔsin we yu lɛk de gɛt dɛn sik ya, duya kɔl 911 wantɛm wantɛm ɔ go na di ɔspitul imejensi dipatmɛnt we de nia yu. If di amonia bɔku na di blɔd, dat kin mek pɔsin in layf de pan denja ɛn i nid fɔ mek dɔktɔ go kwik kwik wan.
Di sayn dɛm we kin apin to pikin dɛm we dɛn jɔs bɔn
pan nyu bכn pikin dεm, haypaammonemia kin kכmכt bitwin 24 εn 72 awa afta dεn bכn dεm:
- Fɔ vɛks ɛn kray pasmak
- Fɔ vɔmit
- Letargy we pɔsin kin taya
- Di sik dɛn we kin mek pɔsin sik
- Grunting we yu de blo
- Di we aw pɔsin kin blo pasmak
Impɔtant: If yu pikin sho dɛn sik ya we yu stil de na ɔspitul, tɛl yu dɔktɔ wantɛm wantɛm. If yu de na os, kɔl 911 ɔ go na di imejensi rum we de nia yu wantɛm wantɛm. Nɔ delay fɔ go fɛn pɔsin fɔ kia fɔ yu.
Aw di Nirogi Lanka mɛdikal tim kin no dis?
Dɔktɔ dɛn kin sɔprayz se yu gɛt haypa amonia bay we dɛn de chɛk yu blɔd amonia lɛvɛl.
- fכ pikin dεm we ol wan mכnt: di lεvεl dεm we hכy pas 80 maykromol/L de kכnsεn.
- fכ big pikin dεm: di lεvεl dεm we hכy pas 55 maykromol/L de kכnsεn.
- fכ big pipul dεm: di lεvεl dεm we hכy pas 30 maykromol/L de kכnsεn.
Micromol/L na di standad yunit we dɛn kin yuz fɔ mɛzhɔ di amɔnia we de na yu blɔd.
Test dɛn fɔ no if pɔsin gɛt di sik
di praymar diagnostik tul na fכ blכd tεst fכ mכsu di amonia lεvεl.
If dɛn kɔnfyus se yu gɛt ay levul, yu dɔktɔ kin ɔda fɔ du ɔda tɛst fɔ no di rizin we mek yu gɛt am, lɛk fɔ tɛst yu liva fɔ wok , fɔ tɛst yu kidni fɔ wok , ɔ fɔ chɛk yu urinalysis .
Bikɔs haypaammonemia kin pwɛl di sɛntral nervɔs sistɛm ɛn i kin mek layf de pan denja, yu dɔktɔ kin tɛl yu bak fɔ du imej tɛst lɛk CT (kɔmpyuta tomografi) skan ɔ MRI (magnetic resonance imaging) fɔ chɛk fɔ nyurolɔjik kɔmplikeshɔn dɛn.
Wetin na di tritmɛnt fɔ Hyperammonemia?
Di tritmɛnt dipen ɔl pan di ɔndalayn kɔz—ilɛksɛf na epatik ɛnsɛfalopati pan big pɔsin we gɛt liva sik, ɔ yuria saykl disɔda (UCD) pan pikin we dɛn jɔs bɔn.
insay kes dεm we akyu haypaammonemia, di gol na fכ lכs di bכdi amonia lεvεl kwik kwik wan εn mεnεj di kכmplikεshכn dεm lεk sεribral εdima (bren swel) εn intrakranial haypatεnshכn.
- fכ nyu bכn pikin dεm, dכkta dεm go stכp di protin we dεn de it (as di protin digεst de prodyuz amonia) εn gi kalori tru glukכs sכlushכn. Dɛn kin yuz ɛmodayalis fɔ klin di blɔd bay we dɛn de yuz spɛshal mashin ɛn filta (we de wok lɛk atifishal kidni).
- fכ dεn wan dεm we gεt pat pan UCD εnzym dεfisiεns we strεs de trigεr, di protin intake de rεstrikt we glukכs de gi kalori sכpכt. Dɛn kin kip ɛmodayalis fɔ kes dɛm we di fɔs tritmɛnt nɔ kin ebul fɔ mek di amonia lɛvɛl dɔŋ insay sɔm awa.
- fכ trit di εpatik εnεsefalopathy, di fכs na fכ ridyus di amonia prodakshכn na di intestines. Fɔs layn tritmɛnt na fɔ tek mɛrɛsin we gɛt laktuloz ɔ laktitol , we de ɛp fɔ mek di bɔdi nɔ tek amonia.
Fɔ di wan dɛn we gɛt krɛse yuria saykl dizayd, dɔktɔ dɛn kin gi dɛn sɔm patikyula it dɛn fɔ mek dɛn nɔ gɛt di sik igen, lɛk:
- L-karnitin we dɛn kɔl
- L-ɔrnitin-L-aspartat
- Arginin we gɛt di sik
Yu tink se dɛn kin ebul fɔ avɔyd dis sik?
Bikɔs haypaammonemia gɛt difrɛn tin dɛn we kin mek i apin, dɛn nɔ kin ebul fɔ avɔyd am ɔltɛm. Bɔt yu kin du tin dɛn fɔ protɛkt yu liva ɛn ɔl yu wɛlbɔdi:
- Nɔ drink ɔ stɔp fɔ drink rɔm.
- Minim di it we yu de it trans fat ɛn kɔn sirop we gɛt bɔku fruktɔs.
- Tek tɛm wit ɔl tu di mɛrɛsin dɛn we dɛn kin gi yu ɛn di mɛrɛsin dɛn we yu kin bay fɔ mek yu nɔ gɛt liva strɛs.
- Mek yu de du ɛksɛsayz ɔltɛm.
- Limit fɔ it rɛd mit.
Fɔ ɛp fɔ mek pikin ɛn titi dɛn nɔ gɛt di sik we dɛn kɔl Reye’s syndrome—na wan sik we kin mek dɛn gɛt hyperammonemia —nɔ ɛva gi aspirin fɔ di vayral simptom dɛn (lɛk fiva ɔ chickenpox) pas nɔmɔ dɔktɔ tɛl dɛn klia wan.
Yuria Saykl Disɔda (UCD) nɔ kin bɔku, bɔt dɛn kin du di jenɛtik tɛst fɔ no if yu gɛt di jin dɛm we de mek dɛn sik ya. Duya, go to yu dɔktɔ fɔ tɔk bɔt if dis skrinin fayn fɔ yu.
Wetin na di prɔgnosis fɔ dis kɔndishɔn?
Di prɔgnosis fɔ hyperammonemia—ɔ aw yu go si fɔ wɛl—dipen pan sɔm impɔtant tin dɛn:
- Di siriɔs we aw yu amonia ɛleveshɔn.
- Di tɛm we yu amonia lɛvɛl dɔn de ɔp.
- Di ɔndalayn mɛdikal kɔz fɔ di haypaammonemia.
Jɛnɛral wan, dɛn kin gayd di prɔgnosis fɔ haypaammonemia. If dɛn delay ɔ nɔ gi di tritmɛnt, di bren we nɔ go ebul fɔ chenj kin mek pipul dɛn day bɔku. כnכfכs, pan nyu bכbi dεm we gεt siriכs haypaammonemia, ivin agresiv εn kwik intavεnshכn nכ de כltεm garanti fכ gud autkam.
Insay Amɛrika, di wan dɛn we gɛt UCD we kin gɛt haypaammonemia we dɛn dɔn bigin fɔ liv, kin gɛt 11 ia we dɛn kin liv lɛk 35%. fכ dεn wan dεm we de divεlכp haypaammonemia leta na layf, dis sכvayv prכbabiliti de go כp to lεk 87%.
Fɔ pipul dɛm we gɛt siriɔs epatik ɛnsɛfalopati bikɔs ɔf haypaammonemia, dɛn dɔn ripɔt se di rεt we de liv na wan ɛn tri ia na 42% ɛn 23%, rispɛktvɔli.
Wetin na di prɔblɛm dɛn we kin apin we pɔsin gɛt haypa amɔnimia?
If dɛn nɔ trit dis sik kwik kwik wan, di amonia lɛvɛl we go ɔp kin pwɛl di sɛntral nɛvɔ sistɛm, we kin mek i gɛt prɔblɛm dɛn we kin mek pɔsin in layf de pan denja, lɛk:
- Sεribral εdima (di bren de swεla) .
- Intrakranial haypatɛnshɔn (di prɛshɔn we de go ɔp insay di skel) .
- di bren hεnia – bכku tεm na di rizulεt fכ di bren we de swel bad bad wan εn di prεshכn we de go כp.
- Kɔma
- Day
If yu gɛt krɛse sik, yu kin gɛt prɔblɛm wit yu maynd fɔ lɔng tɛm ɛn yu kin gɛt prɔblɛm wit yu bihayvya ɔr saykayatrik ɔltɛm.
Ustɛm yu fɔ go to dɔktɔ?
If yu ɔ pɔsin we yu lɛk sho se yu gɛt di sik we dɛn kɔl hyperammonemia, kɔl 911 ɔ go na di imejensi dipatmɛnt we de nia yu wantɛm wantɛm. Nɔ delay fɔ go fɛn pɔsin fɔ kia fɔ yu.
If yu gɛt liva sik ɔ yu nɔ gɛt sɔm pat pan yuria saykl ɛnzaym, i impɔtant fɔ mek yu de chɛk yu dɔktɔ ɔltɛm fɔ mek yu ebul fɔ kɔntrol yu kɔndishɔn ɛn fɔ wach yu amonia lɛvɛl fayn fayn wan.
Hyperammonemia na siriɔs sik wit difrɛn ɔndalayn kɔz dɛm. If yu, yu pikin, ɔ bebi sho se yu gɛt di sik, go to dɔktɔ wantɛm wantɛm. If yu gɛt liva sik ɔ yu famili histri bɔt UCD, tɔk to yu dɔktɔ bɔt yu yon risk factors. Nirogi Lanka de ya fɔ sɔpɔt yu na yu wɛlbɔdi joyn.
Faynal tin dɛn fɔ tink bɔt
Fɔ tɔk smɔl, na di impɔtant pɔynt dɛn we yu fɔ mɛmba:
- Hyperammonemia kin apin we di blɔd amonia lɛvɛl go ɔp to denja lɛvɛl, we kin rili pɔyzin to yu bren ɛn yu nervɔs sistɛm.
- I gɛt bɔku tin dɛn we kin mek i apin, wit di liva we nɔ de wok fayn ɛn di Yuria Saykl Disɔda (UCD) na di men tin dɛn we kin mek i gɛt prɔblɛm.
- Di sayn dɛm kin difrɛn bay di ej ɛn aw i kin tranga, frɔm smɔl smɔl tin dɛm lɛk nɔs, vɔmit, ɛn ed pen to bad bad tin dɛm lɛk kɔnfyushɔn, sik, ɛn kɔma. Yu fɔ wach ɔltɛm bɔt di sayn dɛn we de apin to pikin dɛn we dɛn jɔs bɔn.
- If yu gɛt siriɔs sik, go to dɔktɔ wantɛm wantɛm. Dis kin bi tin we kin mek pɔsin day ɔ day.
- Dɛn kin mek di tritmɛnt fɔ di men tin we kin mek dɛn gɛt am. Rapid intavεnshכn de fכkus fכ lכs di amonia lεvεl εn mεnεj di kכmplikεshכn dεm.
- Pan ɔl we dɛn nɔ kin ebul fɔ avɔyd sɔm tin dɛn we kin mek yu gɛt wɛlbɔdi, fɔ kɔntinyu fɔ liv fayn layf ɛn fɔ wach yu liva wɛlbɔdi, dat kin ɛp fɔ ridyus sɔm prɔblɛm dɛn.
- If yu gɛt liva sik ɔ yu gɛt famili histri bɔt UCD, i impɔtant fɔ mek dɛn chɛk yu ɔltɛm fɔ di mɛrɛsin.
Mɛmba se na yu no yu wɛlbɔdi pas ɔlman. If yu notis ɛni chenj ɔ sayn we nɔ kɔmɔn, nɔ shem fɔ go to dɔktɔ. Wi de ya fɔ ɛp.
Hyperammonemia, amonia, liva, yuria saykl, bren, di simptom dɛm, tritmɛnt
