Koj puas muaj ammonia ntau dhau hauv koj cov ntshav? Cia peb kawm txog qhov xwm txheej txaus ntshai ntawm hyperammonemia!

Muaj ntau yam tshwm sim hauv peb lub cev, puas yog? Qee zaum, thaum cov txheej txheem no mus tsis zoo, teeb meem loj tuaj yeem tshwm sim. Piv txwv li, hyperammonemia yog ib qho mob hnyav uas tshwm sim thaum cov khoom pov tseg hu ua ammonia nce ntxiv hauv peb cov ntshav. Nws yog ib qho tseem ceeb heev uas yuav tsum paub txog qhov no vim tias nws tuaj yeem muaj kev cuam tshuam loj rau koj lub neej yog tias tsis saib xyuas kom zoo.

Hyperammonemia yog dab tsi?

Hais yooj yim xwb, hyperammonemia yog thaum koj cov ntshav ammonia siab dhau heev. Ammonia, lossis NH3, yog cov khoom pov tseg uas tsim tawm hauv peb txoj hnyuv thaum peb zom cov protein uas peb noj. Feem ntau, cov ammonia no mus rau peb lub siab thiab ua tiav qhov ntawd. Peb hu cov txheej txheem no ua lub voj voog urea . Los ntawm lub voj voog no, ammonia hloov pauv mus ua cov tshuaj tsis muaj teeb meem hu ua urea thiab tso tawm hauv cov zis. Txawm li cas los xij, yog tias muaj qee yam tsis raug nrog lub voj voog urea no, lossis yog tias lub siab tsis tuaj yeem ua cov ammonia no kom raug, ammonia pib sib sau ua ke hauv cov ntshav. Qhov kev nce ntxiv ntawm ammonia hauv cov ntshav no yog qhov lom heev rau peb lub paj hlwb hauv nruab nrab (CNS) , uas yog lub hlwb thiab tus txha caj qaum. Yog vim li cas hyperammonemia yog ib qho mob uas xav tau kev kho mob tam sim ntawd thiab tuaj yeem ua rau lub neej muaj kev phom sij .

Leej twg tuaj yeem txhim kho qhov no tau zoo tshaj plaws?

Tus mob no, hu ua hyperammonemia, tuaj yeem cuam tshuam rau cov menyuam mos, cov menyuam yaus, thiab cov neeg laus.

• Ntawm cov neeg laus, kwv yees li 90% ntawm cov neeg uas raug kev txom nyem los ntawm tus mob no yog cov neeg uas muaj cirrhosis ntawm lub siab .
• Cov menyuam mos uas yug los muaj qhov teeb meem no vim lawv yug los muaj qhov tsis zoo ntawm lub voj voog urea (congenital urea cycle disorder) . Cov no yog cov mob caj ces.
• Tsis tas li ntawd xwb, kev ua haujlwm tsis zoo ntawm daim siab thiab cov kab mob metabolic uas tau txais los ntawm noob caj ces tuaj yeem ua rau muaj hyperammonemia hauv cov menyuam yaus.

Nws nyuaj rau hais meej tias qhov no tshwm sim ntau npaum li cas, vim nws tuaj yeem tshwm sim los ntawm ntau yam. Tab sis cov kws tshawb fawb kwv yees tias cov kab mob urea cycle, ib qho ntawm cov ua rau, cuam tshuam rau ib tus ntawm 250,000 tus menyuam mos uas yug hauv Tebchaws Meskas thiab ib tus ntawm 440,000 tus menyuam mos uas yug thoob ntiaj teb.

Dab tsi yog cov ua rau muaj hyperammonemia?

Muaj ntau yam ua rau qhov no. Cov laj thawj no tuaj yeem hloov pauv raws li hnub nyoog. Tab sis feem ntau, ob qho ntawm cov laj thawj tseem ceeb yog teeb meem siab thiab urea cycle disorders (UCDs) .

Vim muaj teeb meem siab

Peb lub siab yog lub cev tseem ceeb uas hloov ammonia mus ua urea. Yog li ntawd, yog tias lub siab puas lawm lossis muaj kab mob, nws yuav tsis tuaj yeem ua cov ammonia kom zoo. Qhov no yog thaum ammonia sib sau ua ke hauv cov ntshav. Nov yog qee yam mob ntsig txog lub siab uas tuaj yeem ua rau muaj hyperammonemia:

• Kab mob siab : Thaum lub siab puas lawm , nws lub peev xwm los ua cov ammonia tsawg. Qhov no feem ntau tshwm sim hauv cov kab mob siab hnyav, tab sis txawm tias cov neeg uas muaj kab mob siab ruaj khov, qee zaum cov ammonia tuaj yeem nce siab sai sai, piv txwv li, yog tias muaj qee yam tshwm sim hauv lub plab lossis txoj hnyuv ( kev los ntshav hauv plab) lossis yog tias muaj kev tsis sib npaug ntawm cov electrolyte . Qhov no yog qhov ua rau muaj cov ammonia ntau hauv cov neeg laus thiab cov menyuam yaus.
• Kab mob hlwb hauv siab: Qhov no tshwm sim thaum lub siab puas lawm thiab tsis tuaj yeem ua cov ammonia kom zoo. Ammonia sib sau ua ke hauv cov ntshav thiab mus rau lub hlwb. Qhov no tuaj yeem ua rau tsis meej pem, tsis paub qhov chaw , thiab txawm tias tsis nco qab. Qee zaum nws tuaj yeem ua rau tuag taus.
• Kab mob siab cirrhosis: Kab mob siab cirrhosis yog qhov hloov cov nqaij ntawm daim siab noj qab haus huv nrog cov nqaij caws pliav. Qhov no tuaj yeem ua rau daim siab tsis ua haujlwm zoo thiab tuaj yeem ua rau muaj hyperammonemia. Kab mob siab cirrhosis yog ib qho kab mob siab ntev.
• Kev ua tsis tau zoo ntawm daim siab sai sai: Qhov no yog thaum lub siab tsis ua haujlwm tam sim ntawd. Nws tuaj yeem tshwm sim los ntawm ntau yam kab mob thiab tej yam mob. Piv txwv li, kev raug mob ntawm daim siab los ntawm tshuaj uas ua rau muaj qee yam tshuaj, xws li acetaminophen , suav txog 50% ntawm tag nrho cov neeg mob uas muaj kev ua tsis tau zoo ntawm daim siab sai sai hauv Tebchaws Meskas. Nws suav txog 64% ntawm cov menyuam yaus uas muaj cov kua qaub ntau dhau hauv cov ntshav.
• Cov ntshav ntws mus rau koj lub siab tsis zoo: Yog tias cov ntshav tsis ntws mus rau koj lub siab kom zoo, lub cev tsis tuaj yeem xa ammonia mus rau lub siab kom ua tiav. Txawm tias yog li ntawd los, ammonia tseem sib sau ua ke hauv cov ntshav.
• Reye's syndrome:Qhov no yog ib qho mob tsis tshua muaj. Nws cuam tshuam rau cov ntshav, lub hlwb, thiab daim siab. Feem ntau nws ua rau cov ntshav ammonia ntau ntxiv thiab cov ntshav qab zib qis. Feem ntau nws cuam tshuam rau cov menyuam yaus thiab cov hluas uas tab tom rov zoo los ntawm cov kab mob xws li mob qaib ntxhw lossis mob khaub thuas/mob ntsws thiab cov uas tau noj tshuaj aspirin rau cov tsos mob ntawd. Tsis paub meej tias yog vim li cas thiaj ua rau muaj tus mob Reye's syndrome. Txawm li cas los xij, vim muaj kev pheej hmoo no, yuav tsum tsis txhob muab tshuaj aspirin rau cov menyuam yaus thiab cov hluas tshwj tsis yog tus kws kho mob pom zoo.

Vim yog Urea Cycle Disorders (UCDs)

Raws li peb tau tham ua ntej lawm, lub voj voog urea yog cov txheej txheem uas cov tshuaj lom ammonia raug hloov mus ua urea thiab tso tawm hauv cov zis. Lub voj voog no muaj ntau kauj ruam, txhua yam uas xav tau ib hom enzyme sib txawv. Cov enzymes no yog:

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

Yog tias ib qho ntawm cov enzymes no tsis txaus, lub voj voog urea yuav tsis ua haujlwm zoo. Ammonia sib sau ua ke hauv cov ntshav. Hom enzyme tsis txaus no hu ua urea cycle disorder (UCD). UCDs tuaj yeem ua rau hyperammonemia, uas tuaj yeem mob hnyav lossis mob ntev. UCDs yog cov mob uas yug los. Cov menyuam mos uas muaj qhov tsis txaus ntawm urea cycle enzyme feem ntau yuav mob hnyav hyperammonemia hauv 24 txog 72 teev tom qab yug los. Txawm hais tias qhov enzyme tsis txaus yog qhov tsis hnyav lossis ib nrab, ammonia buildup tuaj yeem tshwm sim txhua lub sijhawm hauv lub neej, thaum muaj mob, ntxhov siab, lossis lwm yam xwm txheej ntxhov siab. Cov UCDs no suav txog 23% ntawm cov menyuam yaus uas muaj mob hnyav heev.

Lwm yam laj thawj

Sib nrug ntawm qhov no, tej zaum yuav muaj ntau lwm yam laj thawj:

• Kev ua tsis tau zoo ntawm lub raum (raum): Yog tias lub raum tsis tuaj yeem tso cov urea tawm kom raug vim yog lub raum tsis ua haujlwm, nws tuaj yeem ua rau ammonia sib sau ua ke hauv cov ntshav.
• Qee yam kab mob ntshav: Hyperammonemia kuj tseem tuaj yeem tshwm sim los ntawm cov kab mob ntshav xws li ntau yam myeloma thiab mob leukemia mob hnyav.
• Qee yam kab mob: cov kab mob uas tsim cov urease xws li Proteus mirabilis , Escherichia coli (E. coli) thiab KlebsiellaCov kab mob bacterial xws li streptococci, tshwj xeeb tshaj yog rau cov menyuam yaus uas muaj qhov tsis zoo ntawm txoj hlab zis txij thaum yug los thiab rau cov neeg laus uas muaj kev tso zis ntau dhau vim yog kab mob ntawm txoj hlab zis (UTIs), tuaj yeem ua rau muaj hyperammonemia hnyav.

Cov tsos mob ntawm hyperammonemia yog dab tsi?

Cov tsos mob yuav txawv ntau heev nyob ntawm seb qhov mob tsis hnyav npaum li cas, thiab lub hnub nyoog uas nws tshwm sim.

Cov tsos mob me me uas feem ntau tshwm sim rau menyuam yaus thiab cov neeg laus

• Xeev siab thiab ntuav
• Mob plab
• Kev chim siab ntau zaus
• Mob taub hau (mob taub hau)
• Teeb meem nrog kev sib npaug, kev sib koom tes, thiab kev hais lus (ataxia)
• Kev hloov pauv tus cwj pwm

Cov tsos mob me me ntxiv uas tsuas yog cuam tshuam rau menyuam yaus xwb

• Kev ua tsis tiav ntawm kev vam meej
• Cov leeg tsis muaj zog (hypotonia)
• Kev qeeb ntawm kev loj hlob ntawm lub paj hlwb

Cov tsos mob hnyav rau cov menyuam yaus thiab cov neeg laus

Cov no yog cov tsos mob txaus ntshai heev. Yog tias koj muaj ib qho ntawm cov no, koj yuav tsum nrhiav kev pab kho mob tam sim ntawd.

• Kev tsis meej pem thiab kev tsis paub qhov chaw
• Kev hloov pauv ntawm lub siab
• Kev tsaug zog ntau dhau
• Kev hloov pauv hauv kev paub
• Qaug dab peg
• Ua pa sai (Hyperventilation)
• Coma

Ceeb Toom: Yog tias koj lossis ib tus neeg ze koj muaj cov tsos mob no, thov hu rau 911 tam sim ntawd, lossis mus rau chav kho mob ceev ntawm koj lub tsev kho mob ze tshaj plaws. Cov ntshav ammonia nce siab yog qhov txaus ntshai rau lub neej thiab xav tau kev kho mob tam sim ntawd!

Cov tsos mob ntawm cov menyuam mos tshiab

Yog tias tus menyuam mos muaj cov tshuaj ammonemia ntau dhau, cov tsos mob hauv qab no feem ntau tshwm sim hauv 24 txog 72 teev tom qab yug los:

• Kev chim siab ntau zaus, quaj ntau zaus
• Ntuav
• Kev qaug zog
• Qaug dab peg
• Qw nrov thaum ua pa
• Ua pa sai (Hyperventilation)

Tseem Ceeb: Yog tias koj tus menyuam muaj cov tsos mob no, hu rau kws kho mob tam sim ntawd yog tias koj tseem nyob hauv tsev kho mob. Yog tias koj nyob hauv tsev, hu 911 tam sim ntawd, lossis coj lawv mus rau tsev kho mob ze tshaj plaws. Qhov no tsis yog ib yam dab tsi uas yuav tsum ncua sijhawm.

Cov kws kho mob kuaj mob li cas ?

Feem ntau cov kws kho mob xav tias muaj hyperammonemia los ntawm kev kuaj cov ammonia hauv cov ntshav.

• Rau cov menyuam mos uas muaj hnub nyoog txog ib hlis, yog tias cov ammonia hauv cov ntshav ntau dua 80 micromol/liter (80 micromol/L).
• Rau cov menyuam loj dua, yog tias nws ntau dua 55 micromol/liter (55 micromol/L).
• Hauv cov neeg laus, yog tias nws ntau dua 30 micromol/liter (30 micromol/L).

Chav ntsuas no (micromol/L) yog ib txoj hauv kev ntsuas qhov ntau ntawm ammonia hauv cov ntshav.

Yuav ua li cas thiaj kuaj tau qhov no?

Qhov kev kuaj tseem ceeb yog kev kuaj ntshav uas ntsuas qib ammonia hauv koj cov ntshav. Yog tias koj qib ammonia siab, koj tus kws kho mob yuav ua lwm yam kev kuaj kom nrhiav tau qhov ua rau. Piv txwv li, kev kuaj ntshav los xyuas koj lub siab thiab lub raum ua haujlwm , nrog rau kev kuaj zis . Vim tias hyperammonemia tuaj yeem ua rau lub paj hlwb hauv nruab nrab puas tsuaj thiab ua rau muaj kev phom sij rau lub neej, koj tus kws kho mob kuj tseem yuav ua cov kev kuaj duab, xws li CT (computed tomography) scan lossis MRI (magnetic resonance imaging) scan, los xyuas seb puas muaj teeb meem cuam tshuam rau lub hlwb.

Cov kev kho mob rau hyperammonemia yog dab tsi?

Kev kho mob nyob ntawm seb ua li cas. Piv txwv li, rau ib tug neeg laus, nws yog vim muaj kab mob siab lossis mob hlwb hepatic, lossis rau ib tug menyuam mos, nws yog vim muaj teeb meem urea cycle (UCD). Hauv cov neeg mob uas muaj cov ammonia ntau dhau, lub hom phiaj tseem ceeb yog kom txo cov ammonia hauv cov ntshav thiab tswj cov teeb meem tshwj xeeb xws li o ntawm lub hlwb thiab nce siab nyob ib puag ncig lub hlwb (intracranial hypertension).

• Yog tias ib tug menyuam mos muaj hyperammonemia, cov kws kho mob yuav tsum tsis txhob muab protein rau lawv (vim tias ammonia raug tsim tawm thaum cov protein raug zom) thiab hloov chaw muab glucose rau lawv, uas yog cov kua qab zib, los muab calories. Lawv kuj tseem yuav siv cov txheej txheem hu ua hemodialysis . Qhov no suav nrog kev ntxuav cov ntshav ntawm tus menyuam thiab tshem tawm ammonia los ntawm lub tshuab dialysis thiab lub lim tshwj xeeb (zoo li lub raum cuav).
• Cov neeg uas muaj qhov tsis txaus ntawm cov enzyme urea cycle (UCD) uas muaj cov kua qaub ntau dhau vim yog kev ntxhov siab, xws li kev ntxhov siab ua rau muaj cov kua qaub ntau dhau, kuj tau txais cov protein withdrawal thiab glucose ua calories. Kev ntxuav ntshav tsuas yog ua yog tias lawv cov ammonia tsis txo qis hauv ob peb teev ntawm kev kho mob thawj zaug.
• Kev kho mob rau tus kab mob hepatic encephalopathy yog kom txo qhov tsim cov ammonia hauv cov hnyuv. Kev kho mob thawj kab yog cov tshuaj noj uas muaj lactulose thiab lactitol . Cov suab thaj no txo ​​qhov tsim thiab nqus cov ammonia hauv cov hnyuv.

Cov kws kho mob yuav pom zoo kom noj cov tshuaj ntxiv xws li cov no los pab cov neeg uas muaj teeb meem ntawm lub voj voog urea kom txo qhov zaus ntawm lawv cov tsos mob:

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

Puas muaj txoj hauv kev los zam qhov xwm txheej no?

Vim muaj ntau yam ua rau muaj hyperammonemia, tsis yog txhua yam mob tuaj yeem tiv thaiv tau. Txawm li cas los xij, koj tuaj yeem ua cov kauj ruam los tiv thaiv qee hom kab mob siab, tshwj xeeb tshaj yog cov uas cuam tshuam nrog koj cov zaub mov noj thiab kev ua neej. Yog tias koj muaj feem yuav muaj kab mob siab, koj tus kws kho mob yuav pom zoo kom hloov pauv koj txoj kev ua neej no:

• Tsis ua li cas yog tias koj tsis haus los yog tsis haus cawv.
• Tsis txhob noj cov khoom noj thiab dej haus uas muaj cov roj trans fat lossis cov kua txiv pob kws uas muaj fructose ntau.
• Yuav kom tsis txhob muaj kev puas tsuaj rau daim siab, ceev faj heev thaum siv cov tshuaj uas kws kho mob sau ntawv kom yuav thiab cov tshuaj uas yuav tsis tas yuav muaj ntawv qhia.
• Ua si nawv tsis tu ncua .
• Txwv kev noj nqaij liab.

Yuav kom tiv thaiv tau tus kab mob Reye's syndrome, uas yog ib yam mob uas ua rau muaj cov kua qaub ntau hauv cov menyuam yaus thiab cov hluas, tsis txhob muab tshuaj aspirin rau cov menyuam yaus rau cov tsos mob ntawm tus kab mob viral (xws li mob khaub thuas lossis mob qhua pias) tsuas yog tus kws kho mob pom zoo xwb. Cov teeb meem ntawm lub voj voog Urea (UCDs) tsis tshua muaj, tab sis muaj kev kuaj noob caj noob ces kom pom tias koj puas muaj cov noob caj noob ces uas ua rau muaj cov teeb meem no. Tham nrog koj tus kws kho mob txog qhov no.

Qhov kev kwv yees rau tus mob no yog dab tsi?

Qhov kev kwv yees rau hyperammonemia, uas yog, lub peev xwm rov zoo, nyob ntawm ntau yam:

• Koj cov ammonia ntau npaum li cas.
• Cov tshuaj ammonia tau nce siab ntev npaum li cas.
• Dab tsi ua rau muaj hyperammonemia?

Feem ntau, qhov kev cia siab rau hyperammonemia tsis zoo. Yog tias tsis kho lossis kho lig, lub hlwb o tuaj yeem rov qab tau yog txuam nrog kev tuag ntau. Hmoov tsis zoo, txawm tias tus menyuam mos tau kho nrog hyperammonemia hnyav sai lossis ua phem npaum li cas los xij, tsis muaj kev lees paub tias qhov tshwm sim yuav zoo. Hauv Tebchaws Meskas, tus nqi ciaj sia nyob 11 xyoo rau cov neeg uas muaj cov teeb meem urea cycle (UCDs) uas muaj hyperammonemia thaum ntxov hauv lub neej yog li 35%. Rau cov neeg uas muaj hyperammonemia tom qab hauv lub neej, tus nqi ciaj sia nyob yog li 87%. Tus nqi ciaj sia nyob ib xyoos thiab peb xyoos ntawm cov neeg mob uas muaj mob hepatic encephalopathy vim hyperammonemia tau tshaj tawm tias yog 42% thiab 23%, raws li.

Cov teeb meem uas yuav tshwm sim los ntawm hyperammonemia yog dab tsi?

Yog tias qhov mob no tsis kho sai, cov ammonia ntau dhau tuaj yeem ua rau lub paj hlwb puas tsuaj thiab ua rau muaj teeb meem loj rau lub neej. Cov teeb meem no suav nrog:

• Kev mob o ntawm lub hlwb
• Muaj kev ntxhov siab ntxiv nyob ib puag ncig lub hlwb (Intracranial hypertension)
• Kev mob hlwb hernia - Qhov no feem ntau yog tshwm sim los ntawm o ntawm lub hlwb thiab kev ntxhov siab ntxiv nyob ib puag ncig lub hlwb.
• Coma
• Kev tuag

Yog tias ib tug neeg muaj cov tshuaj ammonemia me me ntev ntev, lawv yuav muaj kev tsis taus ntawm kev txawj ntse thiab muaj teeb meem kev coj cwj pwm thiab kev puas siab puas ntsws mus tas li.

Thaum twg peb yuav tsum mus ntsib kws kho mob?

Yog tias koj lossis ib tus neeg uas koj hlub muaj cov tsos mob ntawm hyperammonemia, hu rau 911 tam sim ntawd lossis mus rau tsev kho mob ze tshaj plaws. Qhov no tsis yog ib yam dab tsi uas yuav tsum ncua. Yog tias koj muaj kab mob siab lossis tsis muaj enzyme urea cycle ib nrab, nws yog ib qho tseem ceeb heev uas yuav tsum mus ntsib koj tus kws kho mob tsis tu ncua kom tswj koj tus mob thiab saib xyuas koj cov ammonia.

Hyperammonemia yog ib qho mob hnyav uas tuaj yeem tshwm sim los ntawm ntau yam. Yog tias koj, koj tus menyuam, lossis koj tus menyuam muaj cov tsos mob no, nrhiav kev pab tam sim ntawd. Yog tias koj muaj kab mob siab, lossis yog tias ib tus neeg hauv koj tsev neeg muaj teeb meem urea cycle (UCDs), tham nrog koj tus kws kho mob txog koj qhov kev pheej hmoo ntawm kev muaj hyperammonemia. Lawv nyob ntawd los pab koj.

Thaum kawg, nco ntsoov qhov no.

Zoo, ntawm no yog qee qhov tseem ceeb tshaj plaws uas koj yuav tsum nco ntsoov los ntawm qhov peb tau tham txog:

• Hyperammonemia yog ib qho teeb meem loj heev uas muaj ammonia ntau heev hauv cov ntshav. Qhov no ua rau peb lub hlwb thiab lub paj hlwb puas tsuaj heev.
• Muaj ntau yam ua rau qhov no. Cov teeb meem siab thiab cov kab mob urea cycle (UCDs) yog cov ua rau tseem ceeb.
• Cov tsos mob yuav txawv nyob ntawm seb qhov mob hnyav npaum li cas thiab hnub nyoog li cas. Lawv tuaj yeem yog cov tsos mob me me xws li xeev siab, ntuav, thiab mob taub hau mus rau cov tsos mob hnyav dua xws li tsis meej pem, qaug dab peg, thiab tsis nco qab. Cov menyuam mos yuav tsum txhawj xeeb txog lawv cov tsos mob.
• Yog koj muaj cov tsos mob hnyav, koj yuav tsum nrhiav kev pab kho mob sai li sai tau. Qhov no tuaj yeem ua rau koj tuag taus.
• Kev kho mob nyob ntawm seb ua rau muaj li cas. Kev kho mob sai sai tuaj yeem txo cov ammonia thiab tswj tau cov teeb meem.
• Txawm hais tias qee yam ua rau peb tsis tuaj yeem tiv thaiv tau los xij, qee yam kev pheej hmoo tuaj yeem txo tau los ntawm kev ua neej noj qab haus huv thiab saib xyuas koj lub siab .
• Txawm koj muaj kab mob siab lossis ib tug neeg hauv koj tsev neeg muaj UCDs, nws yog ib qho tseem ceeb uas yuav tsum tau mus kuaj mob tsis tu ncua.

Tsis txhob hnov ​​qab, koj paub koj txoj kev noj qab haus huv zoo tshaj plaws. Yog tias koj xav tias muaj dab tsi txawv lossis txawv txawv, tsis txhob ntshai tham nrog kws kho mob. Hyperammonemia, ammonia, siab, urea cycle, lub hlwb, cov tsos mob, kev kho mob