Ua ib leej niam los yog ib leej txiv, peb txoj kev npau suav loj tshaj plaws yog kom muaj ib tug menyuam noj qab nyob zoo. Tab sis qee zaum peb cov menyuam tuaj yeem los rau hauv lub ntiaj teb no nrog qee yam mob tsis tshua muaj. Koj tus menyuam puas zoo li hluas dua nws lub hnub nyoog? Nws lub ntsej muag puas txawv, tshwj xeeb dua li lwm tus menyuam? Thiab nws puas nyiam sib raug zoo, luag ntxhi thiab tham nrog txhua tus neeg uas nws pom? Tej zaum cov no yog cov cim qhia txog tus mob caj ces tsis tshua muaj hu ua "Williams Syndrome". Tsis txhob txhawj, peb yuav tham txog qhov no kom meej thiab yooj yim.
Hauv lwm lo lus, Williams Syndrome yog dab tsi?
Williams syndrome, qee zaum hu ua Williams-Beuren syndrome, yog ib qho mob caj ces tsis tshua muaj. Hais yooj yim xwb, cov chromosomes, uas nyob hauv peb lub cev, txiav txim siab txhua yam los ntawm peb qhov siab mus rau peb cov xim thiab qhov tsos. Lawv zoo li phau ntawv qhia uas tsim peb lub cev. Ib tug me nyuam uas muaj Williams syndrome muaj ib daim me me ntawm chromosome 7 uas ploj lawm. Nws zoo li ob peb nplooj ntawv uas ploj lawm ntawm phau ntawv qhia. Daim gene uas ploj lawm no ua rau muaj cov tsos mob uas cuam tshuam nrog tus mob.
Qhov mob no tuaj yeem cuam tshuam rau tus menyuam txoj kev loj hlob, kev kawm, kev ua haujlwm ntawm lub plawv, thiab qhov tsos. Nws kuj tseem tuaj yeem ua rau muaj qee yam teeb meem hormonal, xws li cov calcium ntau hauv cov ntshav, cov thyroid tsis ua haujlwm zoo, thiab thaum ntxov ntawm kev laus.
Qhov mob no tshwm sim li cas? Leej twg thiaj tau qhov no ?
Feem ntau, qhov no tsis yog ib yam dab tsi uas tau txais los ntawm niam lossis txiv. Nws yog ib qho kev hloov pauv uas tshwm sim thaum lub sijhawm xeeb tub, ua rau poob ib feem ntawm chromosome thib 7. Yog li ntawd, tsis yog leej niam lossis leej txiv yuav raug liam rau qhov no. Qhov no tsis yog ib yam dab tsi uas leej twg tuaj yeem tiv thaiv tau.
Txawm li cas los xij, yog tias ib tug neeg uas muaj tus kab mob Williams syndrome muaj ib tug menyuam, muaj 50% feem pua uas tus menyuam yuav tau txais tus mob no.
Qhov no yog ib qho mob tsis tshua muaj. Raws li cov ntaub ntawv hauv cov tebchaws zoo li Asmeskas, tsuas yog ib tus ntawm 10,000 tus menyuam yug los muaj qhov mob no. Muaj cov menyuam yaus uas muaj qhov mob no hauv Sri Lanka thiab, tab sis nws tsis tshua muaj.
Qhov mob no cuam tshuam li cas rau kuv tus menyuam?
Kev tsa ib tug me nyuam uas muaj Williams Syndrome tuaj yeem yog ib qho kev cov nyom, tab sis nrog kev txheeb xyuas thaum ntxov thiab kev kho mob thiab kev txhawb nqa tsim nyog, lawv kuj tuaj yeem ua tiav lawv lub peev xwm tag nrho.
Xav txog seb, vim cov menyuam no muaj cov pob qij txha xoob, lawv pib zaum thiab taug kev lig dua li lwm cov menyuam. Lawv kuj tseem yuav muaj qee qhov teeb meem yug los hauv lawv lub plawv lossis cov hlab ntsha uas cuam tshuam nrog lub plawv. Qee zaum qhov no yuav xav tau kev phais. Yog li ntawd, kev kuaj mob tsis tu ncua yog qhov tsim nyog.
Ib qho ntawm tej yam zoo kawg nkaus txog cov menyuam no yog lawv muaj kev txawj hais lus thiab kev sib txuas lus zoo heev. Lawv hais lus zoo nkauj thiab sib raug zoo heev. Tab sis vim yog lub peev xwm no, peb qee zaum tsis nco qab lawv qhov tsis muaj zog hauv kev kawm, piv txwv li, nyuaj kawm cov lej thiab cov tsiaj ntawv. Lawv muaj teeb meem me ntsis nkag siab qhov txawv ntawm ib yam thiab lwm yam (kev xav txog qhov chaw).
Thiab, nco ntsoov tias, cov menyuam no muaj lub cim xeeb zoo mus sij hawm ntev. Tab sis lawv tuaj yeem muaj cov mob zoo li ADHD (Attention-Deficit/Hyperactivity Disorder), qhov uas lawv muaj teeb meem nyob twj ywm tsom ntsoov.
Cov tsos mob uas feem ntau tshwm sim yog dab tsi?
Tsis yog txhua tus menyuam uas muaj tus kab mob Williams syndrome zoo ib yam. Tej zaum yuav muaj ntau yam tsos mob, tej zaum yuav muaj tsawg dua. Cia peb piav qhia txog cov tsos mob no.
| Cov yam ntxwv qeb | Tej yam yuav tau saib |
|---|---|
| Lub cev zoo li cas |
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| Kev loj hlob thiab tus cwj pwm | |
| Lwm yam teeb meem kev noj qab haus huv |
Tej yam yuav tsum tau ceev faj txog: Kab mob plawv
Qhov teeb meem loj tshaj plaws uas pom hauv tus mob no yog kab mob plawv. Tshwj xeeb, qhov nqaim (stenosis) ntawm cov hlab ntsha tseem ceeb uas txuas nrog lub plawv thiab cov hlab ntsha uas nqa ntshav mus rau lub ntsws tuaj yeem pom. Qhov no tuaj yeem ua rau muaj ntshav siab, lub plawv dhia tsis xwm yeem (arrhythmia), thiab qee zaum txawm tias lub plawv tsis ua haujlwm. Feem ntau, thawj qhov kev xav tias tus menyuam muaj Williams syndrome yog vim muaj teeb meem plawv no.
Cov kws kho mob kuaj mob li cas?
Feem ntau tus mob no raug kuaj pom thaum tseem yog menyuam yaus lossis thaum tseem yog menyuam yaus. Yog tias koj tus kws kho mob tsis ntseeg koj tus menyuam qhov tsos thiab cov tsos mob, nws yuav kuaj xyuas tus menyuam kom zoo ua ntej.
Tom qab ntawd, yuav muaj kev kuaj noob caj noob ces tshwj xeeb los xyuas qhov teeb meem no. Qhov no zoo li kev kuaj ntshav ib txwm muaj. Qhov no tuaj yeem xyuas kom meej tias qhov ntawm chromosome 7 uas kuv tau hais ua ntej puas ploj lawm.
Tsis tas li ntawd xwb, muaj ntau yam kev kuaj mob uas yuav ua tau los xyuas kom meej tias tus menyuam muaj lwm yam tsos mob li cas:
- Yuav kuaj xyuas lub plawv: ECG lossis Echocardiogram (kev ntsuas ultrasound ntawm lub plawv)
- Kev Ntsuas Ntshav Siab: Xyuas seb koj cov ntshav siab puas siab dhau lawm.
- Kev kuaj ntshav thiab zis: Xyuas seb lub raum ua haujlwm li cas thiab cov calcium hauv cov ntshav.
Yuav kho li cas? Qhov no puas kho tau?
Williams Syndrome tsis yog ib yam kab mob uas kho tau tag nrho. Vim tias nws yog los ntawm kev hloov pauv ntawm caj ces. Txawm li cas los xij, cov tsos mob thiab teeb meem uas tshwm sim los ntawm nws tuaj yeem tswj tau zoo heev. Qhov ntawd txhais tau tias peb tuaj yeem ua txhua yam peb ua tau los pab tus menyuam kom muaj lub neej zoo li qub thiab zoo siab.
Txoj kev npaj kho mob yuav txawv ntawm ib tug me nyuam mus rau ib tug me nyuam, nyob ntawm seb tus me nyuam cov tsos mob li cas.
- Mus ntsib kws kho mob plawv: Yog tias muaj teeb meem plawv, nws yuav txiav txim siab seb yuav tsum kho dab tsi (tej zaum yuav siv tshuaj lossis phais).
- Cov Kev Pabcuam Thaum Ntxov:Nws yog ib qho tseem ceeb heev uas yuav tsum xa tus menyuam mus rau tej yam xws li kev kho kev hais lus thiab kev kho lub cev kom tiv thaiv kev loj hlob qeeb.
- Kev Kawm Tshwj Xeeb: Yog tias muaj kev tsis taus hauv kev kawm, tus menyuam xav tau ib txoj kev kawm uas tau tsim los rau lawv cov kev xav tau.
- Lwm cov kws tshwj xeeb: Yog tias koj cov calcium hauv cov ntshav siab, koj yuav tsum mus ntsib kws kho mob nephrologist lossis kws noj zaub mov. Koj kuj tseem yuav tsum nrhiav kev pab los ntawm cov kws tshwj xeeb rau cov teeb meem hniav, qhov muag, thiab pob ntseg.
Ua ib tug niam txiv, kuv yuav tsum paub dab tsi?
Nws yog ib qho ib txwm muaj uas koj yuav tu siab thiab ntshai thaum koj tau txais kev kuaj mob zoo li no. Tab sis qhov tseem ceeb tshaj plaws yog muab kev hlub, kev saib xyuas, thiab kev txhawb nqa zoo tshaj plaws rau koj tus menyuam.
- Mus ntsib koj tus kws kho mob raws sijhawm: Nws yog ib qho tseem ceeb uas yuav tsum saib xyuas koj tus menyuam txoj kev noj qab haus huv tsis tu ncua, tshwj xeeb tshaj yog rau cov teeb meem ntsig txog lub plawv.
- Ua siab ntev: Koj tus menyuam kawm txhua yam raws li nws lub sijhawm. Ua haujlwm nrog nws nrog kev ua siab ntev thiab kev hlub. Txaus siab rau txawm tias nws cov kev ua tiav me me.
- Koj tsis nyob ib leeg: Tham nrog lwm cov niam txiv uas muaj cov menyuam zoo li no. Lawv cov kev paub dhau los yuav yog qhov chaw zoo rau koj lub zog. Tsis tas li ntawd, tham nrog koj tus kws kho mob txog koj cov lus nug thiab kev txhawj xeeb.
Feem ntau cov neeg uas muaj tus kab mob Williams syndrome muaj lub neej ntev li qub. Txawm li cas los xij, cov teeb meem loj ntawm lub plawv qee zaum tuaj yeem ua rau lawv lub neej luv dua. Lawv yuav xav tau kev txhawb nqa thaum lawv laus zuj zus.
Thaum twg koj yuav tsum mus ntsib kws kho mob?
Yog tias koj tus menyuam muaj cov tsos mob hauv qab no, nws yog ib qho tseem ceeb heev uas yuav tsum mus ntsib kws kho mob menyuam yaus kom tau txais lus qhia.
| Lub cib fim | Kev piav qhia |
|---|---|
| Kev loj hlob qeeb | Yog tias tus me nyuam qeeb hauv kev tsa nws lub taub hau, dov, zaum, taug kev, lossis tham lus thaum muaj hnub nyoog tsim nyog. |
| Kev kis kab mob ntau zaus | Tshwj xeeb tshaj yog tias muaj kab mob pob ntseg tshwm sim ntau zaus lossis yog tias tus menyuam zoo li muaj teeb meem hnov lus. |
| Teeb meem noj mov | Yog koj tus me nyuam muaj teeb meem haus mis los yog noj mov. |
Thaum twg koj yuav tsum mus rau Chav Kho Mob Thaum Muaj Xwm Ceev (ETU)?
Yog tias tus me nyuam muaj ib qho ntawm cov cim qhia ntawm tus mob plawv, tam sim ntawd coj nws mus rau Chav Kho Mob Thaum Muaj Xwm Ceev (ETU) ntawm lub tsev kho mob ze tshaj plaws.
- Kev hloov xim xiav/ntshav ntawm daim tawv nqaij lossis daim di ncauj .
- Ua pa sai lossis ua pa nyuaj.
- Muaj teeb meem noj mov heev .
- Lub plawv dhia ceev heev.
- Kev o ntawm lub cev, tshwj xeeb tshaj yog lub ntsej muag thiab ceg .
Tus mob no tsis yog kis tau, tab sis tus cwj pwm hlub thiab sib raug zoo ntawm cov menyuam no yeej "kis tau." Lawv coj kev xyiv fab rau txhua tus neeg nyob ib puag ncig lawv. Kev daws teeb meem nrog tus kab mob tshiab tuaj yeem nyuaj, yog li ntawd ib txwm muab kev txhawb nqa rau koj tus menyuam.
Cov Lus Qhia Txog Kev Coj Mus Tsev
- Tus mob Williams syndrome no tsis yog los ntawm niam txiv qhov txhaum. Nws yog kev hloov pauv caj ces uas tshwm sim los ntawm txoj hmoo thaum cev xeeb tub.
- Cov menyuam no muaj tus cwj pwm tshwj xeeb, muaj kev hlub tshua thiab tus cwj pwm zoo thiab sib raug zoo.
- Qhov teeb meem kev noj qab haus huv uas txhawj xeeb tshaj plaws yog cov mob ntsig txog lub plawv thiab cov hlab ntsha. Yog li ntawd, kev kuaj mob tsis tu ncua yog qhov tseem ceeb heev.
- Txawm tias muaj teeb meem kev kawm los xij, lawv tuaj yeem muaj peev xwm hais lus zoo heev thiab nco qab ntev.
- Kev kuaj mob thaum ntxov thiab xa mus rau kev kho mob thiab kev kho mob tsim nyog yuav pab tau tus menyuam kom muaj lub neej zoo heev.
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Tsis muaj lus teb tau muab tso tawm. Ntxiv koj cov lus tawm ntawm no thawj zaug.
Ntxiv koj cov lus