Koj tus me nyuam puas muaj tus kab mob tsawg tsawg no? (Nonketotic Hyperglycinemia - NKH) Cia peb tham txog qhov no

Koj tus menyuam mos puas ib txwm tsaug zog, tsis xav pub niam mis? Los yog nws puas ua tsis taus pa? Nws yog ib qho ib txwm rau koj ua niam txiv ntshai heev thaum koj pom cov no. Qee zaum, muaj tej yam mob loj heev, thiab tsis tshua muaj, tom qab cov tsos mob no. Ib qho mob zoo li no yog '(Nonketotic Hyperglycinemia)' lossis '(NKH)'. Cia peb tham txog qhov no kom meej thiab yooj yim hnub no.

Koj puas paub tias `(NKH)` txhais li cas?

Hais yooj yim xwb, "Nonketotic Hyperglycinemia" los yog "NKH" yog ib qho mob caj ces uas tsis tshua muaj . Qhov uas tshwm sim yog tias peb tus menyuam lub cev tsis tuaj yeem tswj lossis rhuav tshem ib qho molecule hu ua "glycine" kom zoo.

Tam sim no tej zaum koj yuav nug tias `(glycine)` yog dab tsi. `(Glycine)` yog ib qho amino acid `(amino acid)`. Ib yam li cov cib uas xav tau los ua lub tsev, cov amino acids no tseem ceeb heev rau kev tsim cov protein hauv peb lub cev. Yog li, thaum lub cev ntawm tus menyuam tsis tuaj yeem tswj tau `(glycine)` no kom zoo, nws pib sib sau ua ke hauv ntau qhov ntawm lub cev, tshwj xeeb tshaj yog hauv lub hlwb . Qhov no hu ua `(hyperglycinemia)` thaum qib ntawm `(glycine)` nce ntxiv yam tsis tsim nyog. Qhov no tuaj yeem ua rau muaj teeb meem loj heev ntawm lub paj hlwb, tsis nco qab, thiab qee zaum txawm tias tuag hauv tus menyuam.

Lub npe "nonketotic" txhais tau tias nws txawv ntawm lwm yam kab mob uas ua rau muaj glycine ntau ntxiv hauv lub cev. NKH kuj tseem hu ua qhov yuam kev hauv lub cev. Nws yog ib qho mob uas tshwm sim thaum yug los thiab cuam tshuam rau txoj kev uas qee cov tshuaj lom neeg hauv lub cev tsis tshwm sim kom raug. Lwm lub npe rau qhov no yog glycine encephalopathy.

Puas muaj lwm hom ntawm `(NKH)`?

Yog, cov kws tshawb fawb faib NKH ua ob hom tseem ceeb: classical thiab variant . Qhov no yog tshwm sim los ntawm ob hom kev hloov pauv hauv cov noob caj noob ces. Cov npe classical thiab variant NKH hais txog cov noob caj noob ces twg muaj kev hloov pauv.

Kab mob "(NKH)" kuj muab faib ua ob hom - mob hnyav thiab mob qaug zog . Cov no raug cais raws li qhov hnyav ntawm cov tsos mob. Ntawm cov no , mob hnyav "(NKH)" yog qhov feem ntau .

Tus mob no feem ntau tshwm sim li cas?

`(NKH)` yog ib yam kab mob tsis tshua muaj . Thoob ntiaj teb, muaj li ib tug ntawm txhua 76,000 tus menyuam mos uas raug tus kab mob no. Yog li ntawd, tsis txhob ntshai thaum koj hnov ​​txog qhov no. Txawm li cas los xij, nws yog ib qho tseem ceeb heev uas yuav tsum paub txog.

Cov tsos mob ntawm tus kab mob `(NKH)` yog dab tsi?

Cov tsos mob ntawm cov mob hnyav thiab cov mob me ntawm "NKH" feem ntau pib thaum yug los . Qee zaum, cov tsos mob yuav tshwm sim hauv ob peb lub hlis thawj zaug ntawm lub neej.

Cov tsos mob ntawm tus mob hnyav '(NKH'):

Tej yam uas cov menyuam mos uas muaj tus kab mob 'NKH' hnyav yuav pom thawj zaug yog:

• Kev tsaug zog ntau dhau (lethargy): Qhov no tuaj yeem maj mam nce thiab nce mus rau qhov tsis nco qab.
• Cov leeg tsis muaj zogHypotonia: Tus me nyuam yuav xav tias tsis muaj sia nyob.
• Kev ua pa nyuaj uas ua rau tuag taus : Qhov no tuaj yeem pom thaum ntxov ntawm lub neej.

Yog koj zam cov tsos mob thaum ntxov no, feem ntau koj yuav pom cov hauv qab no:

• Nyuaj haus mis nyuj.
• Kev ua pa tsis tu ncua (apnea).
• Kev tsis taus ntawm lub hlwb hnyav heev .
• Cov leeg nqaij tawv tsis zoo (spasticity).
• Cov qaug dab peg uas nyuaj rau tswj .

Feem ntau, cov menyuam no tsis muaj peev xwm ua tau cov theem kev loj hlob ib txwm muaj, xws li kev nkag, tuav ib yam khoom ua si, zaum, thiab haus dej los ntawm lub raj mis. Txawm tias lawv kawm tau ib yam dab tsi los xij, cov txuj ci ntawd tuaj yeem 'rov qab' mus raws sijhawm. Xav txog seb qhov ntawd yuav tu siab npaum li cas rau cov niam txiv.

Cov yam ntxwv ntawm Attenuated NKH:

Cov tsos mob ntawm NKH me me tsis hnyav npaum li cov NKH hnyav, tab sis feem ntau zoo sib xws. Cov menyuam yaus uas muaj NKH me me feem ntau ncav cuag lawv txoj kev loj hlob, tab sis lawv lub peev xwm tuaj yeem sib txawv heev . Kev loj hlob yuav qeeb, tab sis feem ntau cov menyuam yaus thaum kawg kawm taug kev thiab tham nrog lwm tus. Ib txhia menyuam yaus muaj qaug dab peg, tab sis cov no feem ntau tsis hnyav thiab kho tau. Tsis tas li ntawd, cov tsos mob xws li kev txav mus los tsis kam (chorea), cov leeg nqaij tawv (spasticity), thiab hyperactivity (hyperactivity) kuj tseem yuav pom.

Dab tsi ua rau cov menyuam mos loj hlob '(NKH)'?

Qhov ua rau qhov no tseem ceeb yog kev hloov pauv hauv cov noob caj noob ces, lossis kev hloov pauv . Tshwj xeeb, kwv yees li 80% ntawm cov neeg mob yog tshwm sim los ntawm kev hloov pauv hauv cov noob caj noob ces hu ua '(GLDC)'. Tus so yog tshwm sim los ntawm kev hloov pauv hauv cov noob caj noob ces hu ua '(AMT)'.

Cov noob caj noob ces `(GLDC)` thiab `(AMT)` no qhia peb lub cev kom tsim cov `(enzymes)`. Cov `(enzymes)` no ua haujlwm ua ke ua ib pawg. Pawg no hu ua `(glycine cleavage system )`. Qhov no ua yog tias thaum peb tsis xav tau `(glycine)`, nws rhuav nws ua tej daim me me. Thaum cov `(Glycine)` ntau ntxiv, nws cuam tshuam rau kev ua haujlwm ntawm lub hlwb.

Yog li, yog tias muaj kev hloov pauv hauv ib qho ntawm ob lub noob caj noob ces no, nws yuav nyuaj rau peb lub cev zom cov glycine. Qee qhov kev hloov pauv txo qhov kev ua haujlwm ntawm lub kaw lus glycine cleavage no, thaum lwm tus tshem tawm nws tag nrho. Thaum lub kaw lus no tsis ua haujlwm zoo, cov glycine ntxiv yuav tsim nyob rau hauv cov kabmob ntawm tus menyuam, tshwj xeeb tshaj yog lub hlwb. Cov kws tshawb fawb tseem tsis tau paub meej tias cov kev tsis zoo no ua rau muaj cov tsos mob NKH li cas.

Tus kab mob "(NKH)" yog tau txais los ntawm noob caj ces los ntawm ib qho "autosomal recessive pattern." Qhov no txhais tau hais tias ob daim qauv ntawm cov noob caj ces hauv txhua lub cell yuav tsum muaj qhov kev hloov pauv. Feem ntau, ob leeg niam txiv ntawm tus neeg uas muaj "(NKH)" muaj ib daim qauv ntawm cov noob caj ces hloov pauv no, tab sis lawv tsis muaj tsos mob.

Cov kws kho mob kuaj mob '(NKH)' li cas?

Yuav kom kuaj tau tus mob "(NKH"), koj tus menyuam tus kws kho mob yuav kuaj lub cev ua ntej thiab saib cov tsos mob kom zoo. Tom qab ntawd,

• Cov theem ntawm '(glycine)' nyob rau hauv cov kua dej cerebrospinal ('(Cerebral Spinal Fluid - CSF)') thiab cov ntshav '(plasma)' raug kuaj. Thaum cov haujlwm ntawm '(enzyme)' uas tau hais los saum toj no txo ​​qis, cov theem ntawm '(glycine)' hauv '(CSF)' thiab cov ntshav yuav nce ntxiv. Tsis tas li ntawd, qhov sib piv ntawm cov theem ntawm '(glycine)' hauv '(CSF)' thiab cov theem ntawm '(glycine)' hauv cov ntshav kuj nce ntxiv.
• Kev luam theej duab MRI ntawm lub hlwb kuj tseem muaj txiaj ntsig zoo heev, vim nws tuaj yeem qhia tau tus qauv tshwj xeeb ntawm kev hloov pauv hauv lub hlwb ntawm cov menyuam mos uas muaj NKH.
• Kev kuaj noob caj ces kuj tseem tuaj yeem kuaj xyuas seb puas muaj kev hloov pauv hauv ib qho ntawm ob lub noob caj ces uas ua rau NKH.
• Tsis tshua muaj tej zaum yuav muab ib daim me me ntawm lub siab coj mus kuaj (kev kuaj lub siab) kom paub tseeb tias yog tus kab mob.

Cov kev kho mob rau `(NKH)` yog dab tsi?

Vim tias cov menyuam mos uas muaj "(Nonketotic Hyperglycinemia)" feem ntau mob hnyav heev, lawv yuav tsum tau kho mob hauv "(Neonatal Intensive Care Unit - NICU) . Hauv "(NICU), koj tus menyuam yuav tau txais kev saib xyuas thiab kev kho mob zoo heev.

Tu siab kawg li, tam sim no tsis muaj tshuaj kho tau tus mob 'NKH' hnyav . Txawm li cas los xij, rau cov menyuam mos uas muaj mob 'NKH' tsis hnyav, qee yam kev kho mob yuav pab tau. Cov kev kho mob no yuav tsum tau muab thaum ntxov thiab ua tib zoo kom zoo tshaj plaws.

Cov kev kho mob no tuaj yeem muab ib leeg lossis ua ke:

• Cov tshuaj uas txo cov qib ntawm '(glycine)' hauv lub cev ntawm tus menyuam (piv txwv li '(sodium benzoate)' ).
• Cov tshuaj uas ua haujlwm tawm tsam qhov kev ua ntawm '(glycine)' hauv qee cov hlwb ntawm cov hlab ntsha (piv txwv li '(ketamine)' lossis '(dextromethorphan)' ).

Kev tswj cov qaug dab peg kuj tseem ceeb heev. Cov tshuaj ib txwm muaj yuav nyuaj rau tswj cov qaug dab peg. Yog xav kom kho tau zoo, koj yuav tsum siv ntau yam tshuaj ua ke, thiab qee cov tshuaj, xws li valproic acid, yuav tsum tsis txhob siv. Kev noj zaub mov ketogenic kuj tseem tuaj yeem pab tswj cov qaug dab peg.

Kev kho mob rau lwm yam tsos mob ntawm '(NKH'):

• Kev ua pa siv tshuab.
• Ib lub raj uas ntxig rau hauv lub plab kom muab zaub mov (gastrostomy tube).
• Kev kho lub cev.
• Kev pab cuam thaum ntxov thiab kev txhawb nqa ntxiv.

Yog tias koj ua tau, nug koj tus kws kho mob txog qhov ua tau koom nrog kev sim tshuaj .

Lub neej cia siab ntawm ib tus neeg uas muaj '(NKH)' yog dab tsi?

Nws nyuaj rau hais tias ib tug neeg uas muaj NKH yuav nyob tau ntev npaum li cas. Qhov no yog vim muaj ntau yam kev hloov pauv ntawm cov noob caj noob ces thiab qhov hnyav ntawm tus kab mob sib txawv heev. Txawm li cas los xij, Lub Koom Haum rau Nonketotic Hyperglycinemia kwv yees tias 80% ntawm cov menyuam mos uas muaj tus kab mob no tsis muaj sia nyob rau lub sijhawm yug menyuam tshiab (lub hlis thawj zaug ntawm lub neej) . Txawm tias lawv muaj sia nyob rau lub sijhawm yug menyuam tshiab, ntau tus menyuam uas muaj NKH hnyav tsis nyob dhau hnub nyoog 5 xyoos. Pab pawg kho mob ntawm koj tus menyuam yuav muaj peev xwm muab lub tswv yim zoo dua rau koj txog qhov no. Cia siab rau lawv txoj kev txawj ntse thiab kev txhawb nqa. Kuv nkag siab tias nws yuav tsum nyuaj npaum li cas los hnov ​​​​​​qhov no.

Puas tiv thaiv tau tus kab mob no?

Tsis yog. (NKH) yog ib yam mob uas muaj los ntawm noob caj ces thiab peb tsis tuaj yeem tiv thaiv tau . Yog tias koj txhawj xeeb tias koj tus menyuam yuav tau txais yam mob no, nws yog ib lub tswv yim zoo los tham nrog tus kws pab tswv yim txog noob caj ces ua ntej npaj cev xeeb tub.

Thaum twg kuv yuav tsum coj kuv tus menyuam mus ntsib kws kho mob?

Yog tias koj tus menyuam mos liab qaug zog heev lossis tsis xav pub niam mis rau menyuam , koj yuav tsum coj nws mus rau kws kho mob menyuam yaus tam sim ntawd. Tus kws kho mob kuj tseem yuav xa koj mus rau chav kho mob ceev hauv tsev kho mob kom tau kev kho mob tam sim ntawd. Txawm yog vim li cas los xij, nws yog ib qho tseem ceeb kom coj lawv mus kuaj mob tam sim ntawd.

Kuv yuav tsum nug tus kws kho mob ntawm kuv tus menyuam li cas?

Yog koj tus menyuam muaj '(NKH)', tej zaum koj yuav xav nug cov lus nug no:

• Vim li cas ho tsim tau `(NKH)`?
• Kuv tus me nyuam muaj hom '(NKH)' twg?
• Koj pom zoo kom muaj kev kho mob twg?
• Puas muaj kev kuaj mob twg uas tuaj yeem kwv yees qhov hnyav ntawm tus kab mob no?
• Kuv tus me nyuam yuav loj hlob mus deb npaum li cas (taug kev, hais lus, txawj ntse)?
• Puas yog kuv tus menyuam yuav tsum noj tshuaj mus tas nws lub neej?
• Puas yog kuv cov menyuam yav tom ntej tuaj yeem loj hlob '(NKH)'?
• Koj puas tuaj yeem pom zoo ib pab pawg txhawb nqa?

Thaum koj tus menyuam raug kuaj pom tias muaj tus kab mob Nonketotic Hyperglycinemia (NKH), cov xov xwm no yuav ua rau koj xav tsis thoob thiab ua rau koj tsis meej pem. Nws yuav ua rau koj xav tsis thoob thaum paub tias koj tus menyuam muaj tus mob tsis tshua muaj uas yuav tsum tau kho ob peb zaug. Yog tias ua tau, nrhiav ib pawg neeg txhawb nqa rau cov tsev neeg ntawm cov menyuam uas muaj NKH. Kev tham nrog lwm tus uas tau dhau los ntawm tib yam li koj ua tau tuaj yeem muab zog rau koj thiab pab koj daws teeb meem. Nco ntsoov, pab pawg kho mob ntawm koj tus menyuam yeej nyob ntawd los txhawb koj txhua kauj ruam ntawm txoj kev.

## Tej Yam Tseem Ceeb Yuav Tsum Nco Ntsoov (Cov Lus Qhia Coj Mus Tsev)

• (NKH) yog ib yam kab mob caj ces uas tsis tshua muaj thiab loj heev .
• Qhov no ua rau muaj cov tshuaj hu ua "glycine" sib sau ua ke hauv lub cev ntawm tus menyuam, tshwj xeeb tshaj yog hauv lub hlwb .
• Cov tsos mob feem ntau pib thaum yug los thiab tuaj yeem suav nrog kev tsaug zog ntau dhau, nyuaj noj mov, ua pa nyuaj, thiab qaug dab peg.
• Mob hnyav heev (NKH)Txawm hais tias tsis muaj kev kho mob los xij, muaj qee qhov kev kho mob me me.
• Yog tias koj tus menyuam muaj cov tsos mob no, nws yog ib qho tseem ceeb uas yuav tsum nrhiav kev pab kho mob tam sim ntawd .
• Koj tsis yog ib leeg xwb hauv txoj kev no. Nrhiav kev pab los ntawm koj pab neeg kho mob thiab cov pab pawg txhawb nqa . Koj lub zog ntawm lub hlwb kuj tseem ceeb heev.

Vam tias cov ntaub ntawv no yuav pab tau koj. Qhov tseem ceeb tshaj plaws nyob rau lub sijhawm nyuaj no yog kom koj nyob ruaj khov.

` Nonketotic Hyperglycinemia, NKH, Glycine, Cov Kab Mob Genetic, Cov Kab Mob Me Nyuam Yaus, Cov Kab Mob Neurological, Cov Teeb Meem Metabolic