Williams Syndrome: Ua rau, Cov tsos mob, thiab kev kuaj mob

Cov txheej txheem:

Williams Syndrome: Ua rau, Cov tsos mob, thiab kev kuaj mob
Williams Syndrome: Ua rau, Cov tsos mob, thiab kev kuaj mob
Anonim

Williams syndrome yog ib yam kab mob tsis tshua muaj caj ces uas ua rau muaj ntau yam tsos mob thiab teeb meem kev kawm. Cov menyuam yaus uas muaj tus mob no tuaj yeem muaj teeb meem nrog lawv lub plawv, cov hlab ntsha, ob lub raum, thiab lwm yam kabmob. Lawv lub qhov ntswg, qhov ncauj, thiab lwm yam ntawm lub ntsej muag tej zaum yuav txawv. Tej zaum lawv muaj teeb meem kev kawm.

Cov menyuam yaus uas muaj tus mob Williams yuav tau mus ntsib ntau tus kws kho mob thoob plaws lawv lub neej. Tab sis nrog kev kho kom raug, lawv tuaj yeem noj qab haus huv thiab ua tau zoo hauv tsev kawm ntawv.

Caus

Cov me nyuam nrog Williams syndrome yog yug los tsis muaj qee yam noob. Cov tsos mob lawv muaj nyob ntawm cov noob uas lawv ploj lawm. Piv txwv li, ib tug neeg yug los tsis muaj noob hu ua ELN yuav muaj teeb meem plawv thiab hlab ntsha.

Cov noob feem ntau ploj lawm hauv cov phev lossis qe ua ntej lawv sib ntsib los tsim tus menyuam. Hauv qee qhov me me, cov menyuam mos tau txais cov noob caj noob ces los ntawm niam txiv uas muaj tus mob, tab sis feem ntau nws yog qhov tsis sib xws hauv cov noob.

Symptoms

Williams syndrome tuaj yeem ua rau cov tsos mob ntawm ntau qhov chaw ntawm lub cev, xws li lub ntsej muag, lub plawv, thiab lwm yam kabmob. Nws kuj tuaj yeem cuam tshuam tus menyuam txoj kev muaj peev xwm kawm.

Lub ntsej muag ntsej muag

Cov menyuam yaus uas muaj tus mob Williams muaj lub ntsej muag tshwj xeeb uas muaj xws li:

  • dav hauv pliaj
  • Txoj kev ntawm lub qhov ntswg flattened
  • Ntshai qhov ntswg nrog lub taub loj
  • Lub ncauj dav nrog daim di ncauj puv
  • Nyob zoo ib tsoom niam txiv kwv tij neej tsas sawv daws

  • Me me, dav dav cov hniav
  • Ntxhais hniav los yog nkhaus
  • qhov muag tsis sib xws
  • Txhob muab lub kaum ob lub qhov muag
  • dawb lub hnub qub tawg ib ncig ntawm iris, lossis xim ib feem ntawm lub qhov muag
  • Ntev ntsej muag thiab caj dab (hauv neeg laus)

Lub plawv thiab cov hlab ntsha

Ntau tus neeg mob Williams muaj teeb meem nrog lawv lub plawv thiab cov hlab ntsha.

  • Lub aorta, cov hlab ntsha loj uas nqa cov ntshav ntawm lub plawv mus rau lwm lub cev, tej zaum yuav nqaim.
  • Cov hlab ntsha pulmonary uas nqa ntshav los ntawm lub plawv mus rau lub ntsws kuj yuav nqaim.
  • ntshav siab ntau.

Cov hlab ntsha nqaim tsis txhob cia cov ntshav uas muaj oxygen ntau mus txog lub plawv thiab lub cev. Ntshav siab thiab ntshav qis tuaj yeem ua rau lub plawv puas.

Teeb meem loj hlob

Cov me nyuam yug los nrog Williams syndrome tuaj yeem me me heev. Tej zaum lawv yuav muaj teeb meem noj, thiab yuav tsis hnyav lossis loj hlob sai li lwm tus menyuam yaus.

Raws li cov neeg laus, lawv feem ntau luv dua tib neeg.

Tus kheej

Cov menyuam yaus uas muaj tus mob Williams tuaj yeem ntxhov siab, tab sis lawv kuj nyiam ua phooj ywg zoo thiab tawm mus.

Kev Kawm Teebmeem

Cov teeb meem kev kawm muaj tshwm sim hauv cov menyuam yaus uas muaj tus mob Williams. Lawv txawv ntawm me me mus rau hnyav. Cov menyuam yaus taug kev qeeb dua, tham, thiab tau txais kev txawj tshiab piv rau lwm cov menyuam yaus hnub nyoog. Tej zaum lawv yuav muaj teeb meem kev kawm xws li tsis hnov lus tsis txaus siab tsis txaus ntseeg (ADHD).

Ntawm qhov tod tes, ntau tus menyuam yaus uas muaj tus mob Williams muaj kev nco zoo heev thiab kawm tau yam tshiab sai. Lawv nyiam hais lus thiab nyeem tau zoo, thiab feem ntau muaj txuj ci suab paj nruag.

Lwm Yam Ua Tau

  • nkhaus qaum, hu ua scoliosis
  • pob ntseg kab mob
  • Nyob rau hnub puberty
  • Nyob zoo
  • Hernia
  • qib calcium ntau hauv cov ntshav
  • teeb meem pob txha thiab pob txha
  • Kidney problems
  • Us tshuaj kis kab mob

Diagnosis

Williams syndrome feem ntau yog kuaj ua ntej tus menyuam muaj 4 xyoos. Koj tus kws kho mob yuav kuaj thiab nug txog koj tsev neeg keeb kwm kev kho mob. Tom qab ntawd tus kws kho mob yuav saib xyuas lub ntsej muag zoo li lub qhov ntswg upturned, lub hauv pliaj dav, thiab cov hniav me me. Ib qho electrocardiogram (EKG) lossis ultrasound tuaj yeem kuaj xyuas cov teeb meem plawv.

Lub zais zis thiab lub raum ultrasound tuaj yeem kuaj xyuas cov kab mob urinary.

Koj tus menyuam yuav tau kuaj ntshav hu ua FISH, lossis fluorescence hauv situ hybridization, saib seb puas muaj cov noob ploj lawm. Feem ntau cov neeg uas muaj tus mob Williams yuav tsis muaj ELN noob.

Vim cov teeb meem no tuaj yeem tshwm sim dhau sijhawm, cov kws kho mob yuav xav pom koj tus menyuam tsis tu ncua.

Kev kho mob

Ntau tus neeg saib xyuas sib txawv tuaj yeem koom nrog hauv kev saib xyuas koj tus menyuam, suav nrog:

  • Tus kws kho mob - tus kws kho mob kho mob plawv
  • Endocrinologist - tus kws kho mob uas kho cov teeb meem tshuaj hormone
  • Gastroenterologist - tus kws kho mob uas kho mob plab
  • Ophthalmologist - kws kho mob kho qhov muag
  • Psychologist
  • Tus kws kho lus hais lus thiab tus kws kho lus
  • Tus kws kho mob ua haujlwm
  • Tus kws kho mob lub cev

Qee yam kev kho koj tus menyuam yuav xav tau:

  • Kev noj zaub mov tsis muaj calcium thiab vitamin D kom txo cov calcium ntau hauv cov ntshav
  • Tshuaj txo cov ntshav siab
  • Kev kawm tshwj xeeb, suav nrog kev hais lus thiab kev kho lus
  • kho lub cev
  • Kev phais kho cov hlab ntsha lossis teeb meem plawv

Koj tus menyuam yuav xav tau kev kho mob rau lwm yam tsos mob, ib yam nkaus.

Living with Williams Syndrome

Tus kws pab tswv yim caj ces tuaj yeem pab koj kawm koj tsev neeg txoj kev pheej hmoo rau Williams syndrome. Qhov no tuaj yeem pab tau yog tias koj npaj yuav muaj menyuam.

Williams syndrome kho tsis tau, tab sis kev kho mob tuaj yeem pab cov tsos mob thiab kev kawm teeb meem.

Txhua tus menyuam uas muaj tus mob Williams sib txawv. Qee tus tuaj yeem ua lub neej zoo li qub. Lwm tus muaj teeb meem kev noj qab haus huv thiab kev kawm loj dua. Tej zaum lawv yuav xav tau kev kho mob tas mus li.

Resources

Yog xav paub ntxiv txog Williams syndrome, tau txais kev pab los ntawm lub koom haum uas tshwj xeeb hauv cov kab mob tsawg.

Pom zoo:

Nthuav cov khoom
Kev Siv Dej Cawv Dej
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