Koj tus me nyuam puas nyiam sib raug zoo? Nws puas luag nyav thiab tham nrog txhua tus neeg uas nws ntsib, thiab nws tus phooj ywg zoo kawg li? Tej zaum koj twb pom tias nws lub ntsej muag txawv me ntsis ntawm lwm tus menyuam. Yog tias, nrog rau cov no, kuj muaj kev loj hlob qeeb me ntsis thiab teeb meem plawv hauv tus menyuam, peb tab tom tham txog ib qho mob caj ces tsis tshua muaj uas yuav yog qhov ua rau. Tsis txhob ntshai tom qab nyeem qhov no. Cov ntaub ntawv no yuav pab koj nkag siab zoo dua txog qhov no.
Williams Syndrome yog dab tsi?
Hais yooj yim xwb, Williams Syndrome (WS) yog ib yam mob caj ces tsis tshua muaj . Nws yog tshwm sim los ntawm kev hloov me me hauv peb cov noob caj ces. Ib tug menyuam uas muaj tus mob no yuav muaj teeb meem nrog ntau qhov ntawm lub cev, tshwj xeeb tshaj yog cov kab mob xws li cov hlab ntsha, lub plawv thiab lub raum. Lawv kuj muaj cov yam ntxwv ntawm lub ntsej muag, kev kawm tsis tau zoo thiab tus cwj pwm tshwj xeeb.
Qhov tseem ceeb yog tias txawm hais tias tsis muaj kev kho mob tag nrho rau qhov no, nrog kev kho mob thiab kev txhawb nqa zoo, tus menyuam cov tsos mob tuaj yeem tswj tau thiab lawv tuaj yeem pab kov yeej cov teeb meem ntawm lub neej txhua hnub.
Qhov txawv ntawm Down Syndrome thiab Williams Syndrome
Ob qho tib si yog cov mob caj ces. Ob qho tib si tuaj yeem ua rau muaj teeb meem nrog lub plawv thiab lub paj hlwb. Tab sis qhov ua rau ob qho tib si sib txawv. Down syndrome yog tshwm sim los ntawm ib daim qauv ntxiv ntawm ib yam dab tsi hu ua chromosome hauv peb lub cev cov hlwb. Williams syndrome yog tshwm sim los ntawm kev poob ntawm ib feem me me ntawm chromosome .
Dab tsi ua rau muaj Williams syndrome?
Xav txog peb lub cev zoo li ib phau ntawv qhia loj. Cov nplooj ntawv ntawm phau ntawv no hu ua chromosomes. Muaj 46 nplooj ntawv zoo li no (23 khub) hauv txhua lub hlwb ntawm peb. Nws yog nyob rau ntawm nplooj ntawv xya ntawm phau ntawv no (Chromosome 7) uas muaj ntau cov lus qhia rau kev tsim peb lub cev tau sau.
Ib tug me nyuam uas muaj tus kab mob Williams syndrome yug los tsis muaj ib feem me me ntawm nplooj ntawv xya no, uas muaj li ntawm 25 lossis 27 lub noob caj noob ces. Zoo li ib daim me me ntawm nplooj ntawv hauv phau ntawv qhia tau raug rhuav tshem. Cov tsos mob uas tus me nyuam pom nyob ntawm seb cov noob caj noob ces twg uas ploj lawm. Piv txwv li, yog tias cov noob caj noob ces hu ua 'ELN' ploj lawm, nws tuaj yeem ua rau muaj teeb meem nrog lub plawv thiab cov hlab ntsha.
Qhov no tsis yog qhov txhaum ntawm niam lossis txiv. Feem ntau, nws yog tshwm sim los ntawm kev hloov pauv tsis raws cai hauv kev loj hlob ntawm cov phev lossis qe. Ntawd yog, nws yog qhov tsis raws cai kiag li . Tsis tshua muaj, yog tias ib tug ntawm cov niam txiv muaj qhov mob no, tus menyuam kuj tuaj yeem tau txais nws.
Qhov no feem ntau tshwm sim li cas?
Qhov no yog ib qho mob tsis tshua muaj. Feem ntau nws cuam tshuam rau ib tus neeg ntawm 7,500 txog 10,000 tus neeg.
Cov tsos mob no yog dab tsi?
Tsis yog txhua tus menyuam uas muaj tus kab mob Williams syndrome zoo ib yam. Tej zaum ib txhia yuav muaj ob peb yam tsos mob, thaum lwm tus yuav muaj ntau yam tsos mob. Thiab lawv qhov hnyav yuav txawv. Cia peb saib cov tsos mob tseem ceeb.
| Hom cwj pwm | Tej yam yuav tau saib |
|---|---|
| Cov yam ntxwv tshwj xeeb ntawm lub ntsej muag | Lub hauv pliaj dav, lub qhov ntswg luv luv, lub qhov ncauj dav nrog daim di ncauj puv, lub puab tsaig me me, cov kab ntawm cov ces kaum ntawm lub qhov muag, thiab cov qauv hnub qub dawb nyob ib puag ncig cov dawb ntawm lub qhov muag. Ib txhia menyuam yaus muaj cov hniav me, qhov sib nrug ntawm cov hniav, lossis cov hniav nkhaus. |
| Tus cwj pwm tshwj xeeb | Muaj lub siab zoo thiab tham lus zoo, ua phooj ywg nrog cov neeg txawv teb chaws, nkag siab txog kev xav ntawm lwm tus zoo (kev khuv leej lwm tus), ntxhov siab thiab ntshai ntau yam (kev ntshai), nyuaj rau tswj kev xav. ADHD kuj yog ib qho uas tshwm sim ntau. |
| Kev loj hlob qeeb | Qhov hnyav thaum yug los tsis txaus, nyuaj rau pub niam mis, qeeb qeeb rau qhov hnyav nce thiab loj hlob. qeeb qeeb rau kev zaum, kev taug kev, thiab lwm yam. Nyuaj rau kev ua ub ua no xws li tuav cwj mem. |
| Teeb meem plawv thiab cov hlab ntsha | Cov mob xws li txoj hlab ntsha loj (aorta) uas nqa ntshav ntawm lub plawv mus rau lub cev nqaim (Supravalvular aortic stenosis - SVAS), txoj hlab ntsha uas nqa ntshav mus rau lub ntsws nqaim (pulmonary stenosis), ntshav siab, thiab lub plawv dhia tsis xwm yeem (arrhythmia) yog cov tsos mob uas pom tau thawj zaug. Cov no yog cov tsos mob thawj zaug uas yuav tsum paub. |
| Lwm yam teeb meem kev noj qab haus huv | Cov calcium hauv cov ntshav nce ntxiv, mob pob ntseg ntau zaus, scoliosis, teeb meem raum, teeb meem pob qij txha thiab pob txha, suab nrov, thiab laus sai. |
Kev kawm sib txawv
Kwv yees li 75% ntawm cov menyuam uas muaj tus kab mob Williams syndrome yuav muaj kev tsis taus ntawm lub hlwb me ntsis. Qhov no tuaj yeem ua rau muaj teeb meem kev kawm. Ntawm qhov tod tes, cov menyuam no muaj kev nco zoo heev . Lawv kuj tseem yuav muaj kev txawj hais lus thiab kev hais lus, kev txawj nyeem ntawv, thiab tshwj xeeb tshaj yog muaj peev xwm zoo rau suab paj nruag .
Yuav kuaj mob li cas?
Koj tus kws kho mob yuav xub kuaj koj tus menyuam, nug txog lawv keeb kwm kev kho mob hauv tsev neeg, thiab ua tib zoo saib xyuas txhua yam tshwj xeeb ntawm lawv lub ntsej muag.
Yog tias xav tias muaj tus mob Williams syndrome, yuav tsum kuaj ntshav kom paub tseeb. Muaj ob txoj kev tseem ceeb rau qhov no:
1. Kev kuaj FISH (Fluorescence in situ hybridization): Qhov kev kuaj no ncaj qha nrhiav cov noob caj noob ces 'ELN' uas ploj lawm ntawm chromosome 7. Feem ntau cov neeg uas muaj Williams syndrome tsis muaj cov noob caj noob ces no.
2. Chromosome microarray: Qhov no yog ib qho kev kuaj niaj hnub dua thiab siv ntau dua. Nws saib tag nrho cov chromosomes ntawm tus menyuam thiab saib seb puas muaj ib feem ntawm DNA ploj lawm. Nws kuj tseem tuaj yeem qhia tau tias cov noob caj noob ces twg ploj lawm, ua rau tus kws kho mob muaj lub tswv yim zoo dua txog cov tsos mob uas tus menyuam yuav muaj.
Tsis tas li ntawd xwb, tej zaum yuav muaj kev kuaj ntxiv kom paub seb tus menyuam lub cev sab hauv zoo li cas.
- Kev kuaj EKG lossis Ultrasound rau cov teeb meem plawv.
- Kev kuaj mob ultrasound los xyuas seb lub raum thiab lub zais zis zoo li cas.
- Kuaj xyuas cov calcium hauv cov ntshav los yog zis.
Yuav kho li cas?
Zoo li peb tau hais ua ntej lawm, tus mob no tsis tuaj yeem kho tau tag nrho. Txawm li cas los xij, kev kho mob tuaj yeem pab tswj cov tsos mob thiab pab tus menyuam kom muaj lub neej zoo. Qhov no xav tau kev pab los ntawm ntau tus kws tshwj xeeb.
- Kws Kho Mob Plawv: Rau cov teeb meem plawv.
- Kws Kho Mob Endocrinologist: Rau cov teeb meem ntsig txog cov tshuaj hormones thiab cov calcium theem.
- Kws Kho Mob Pob Ntseg, Qhov Ntswg, thiab Caj Pas (Phais Mob ENT): Rau kev mob pob ntseg.
- Kws Kho Mob Lub Cev: Txhawm rau txhim kho kev txav mus los ntawm lub cev thiab cov leeg nqaij kom muaj zog.
- Kws Kho Kev Hais Lus thiab Kev Siv Lus: Txhawm rau txhim kho kev hais lus thiab kev siv lus.
Kev kho mob yuav suav nrog kev noj zaub mov uas txo cov calcium hauv cov ntshav, tshuaj kho ntshav siab, cov kev kawm tshwj xeeb, thiab, yog tias tsim nyog, phais mob hlab ntsha lossis plawv. Tag nrho cov no yog koj tus kws kho mob txiav txim siab.
Ua ib tug niam txiv, koj ua tau dab tsi?
Thaum koj pom tias koj tus menyuam muaj tus kab mob Williams syndrome, nws yog ib qho kev xav tsis thoob. Tab sis cov lus tseeb no yuav pab tau koj.
- Muab kev hlub ntau rau koj tus menyuam: cia lawv tshawb nrhiav lub ntiaj teb raws li lawv lub peev xwm thiab kev nrawm.
- Sib cuag nrog cov kws kho mob tsis tu ncua: Mus kuaj mob tsis tu ncua kom paub txog kev noj qab haus huv ntawm koj tus menyuam.
- Nrhiav kev pab ntxiv hauv tsev kawm ntawv: Tham nrog cov xib fwb thiab tus thawj xib fwb ntawm lub tsev kawm ntawv txog cov phiaj xwm tshwj xeeb uas xav tau rau koj tus menyuam txoj kev kawm.
- Kawm kom paub ntau ntxiv: Kawm kom ntau li ntau tau txog qhov xwm txheej no kom koj thiaj li tawm tswv yim rau koj tus menyuam kom raug.
- Txuas lus nrog lwm tus: Tham nrog lwm cov niam txiv uas muaj cov menyuam zoo li no. Nug koj tus kws kho mob txog cov pab pawg txhawb nqa.
- Xav txog koj tus kheej thiab: Saib xyuas koj lub hlwb thiab lub cev kom noj qab haus huv thaum koj saib xyuas koj tus menyuam. Yog tias koj nkees, tsis txhob yig thov kev pab.
| Thaum twg yuav tsum nrhiav kev pab kho mob | |
|---|---|
| Mus ntsib kws kho mob tsis tu ncua. | Mus rau chav kho mob ceev (ETU) ntawm tsev kho mob tam sim ntawd. |
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Yog koj muaj kev tsis ntseeg lossis kev ntshai txog koj tus menyuam, tsis txhob tsis quav ntsej lawv. Koj paub koj tus menyuam zoo tshaj plaws. Yog li ntawd, nrhiav kev pab kho mob tam sim ntawd.
Cov Lus Qhia Txog Kev Coj Mus Tsev
- Tus mob Williams syndrome tsis yog qhov txhaum ntawm niam los yog txiv. Nws yog ib qho kev hloov pauv caj ces uas tsis tau xav txog.
- Cov menyuam yaus uas muaj tus mob no yuav muaj cov yam ntxwv xws li lub ntsej muag txawv, tus cwj pwm zoo heev, muaj teeb meem kev kawm, thiab muaj teeb meem plawv.
- Txawm hais tias tsis muaj kev kho mob tag nrho rau qhov no, muaj cov kev kho mob zoo heev los tswj cov tsos mob.
- Nrog kev hlub thiab kev txhawb nqa ntawm cov kws kho mob tshwj xeeb, cov kws kho mob hlwb, cov xib fwb, thiab cov niam txiv, cov menyuam no tuaj yeem ua neej zoo thiab zoo siab heev.
- Yog koj muaj kev txhawj xeeb txog koj tus menyuam, tsis txhob tsis quav ntsej nws thiab nrog koj tus kws kho mob tham tam sim ntawd.
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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