Cov Ntsej Muag ntawm Williams-Beuren Syndrome

Zoo Siab

• Cov qauv tseem ceeb
• Yuav kuaj li cas
• Yuav kho tus mob li cas

Williams-Beuren syndrome yog ib qho kev mob tshwm sim tsis tshua muaj tsawg thiab nws cov yam ntxwv tseem ceeb yog tus phooj ywg zoo, kev sib raug zoo thiab kev sib txuas lus ntawm tus menyuam, txawm hais tias nws qhia txog kev mob plawv, kev sib koom tes, kev tshuav, hlwb rov qab los thiab teeb meem psychomotor.

Cov tsos mob no cuam tshuam rau kev tsim cov elastin, cuam tshuam qhov ywj pheej ntawm cov hlab ntsha, ntsws, plab hnyuv thiab tawv nqaij.

Cov menyuam yaus uas muaj tus mob no pib hais lus thaum hnub nyoog 18 lub hlis, tab sis qhia tau yooj yim hauv kev kawm cov lus sib dhos thiab cov nkauj thiab muaj qhov hais dav dav, qhov tseem ceeb ntawm lub suab paj nruag thiab hnov ​​zoo. Lawv feem ntau qhia kev ntshai thaum hnov ​​cov npuaj teg, rab rawg, lub dav hlau, thiab lwm yam, vim tias lawv muaj lub ntsej muag hypersensitive rau suab, ib yam mob hu ua hyperacusis.

Cov qauv tseem ceeb

Hauv cov tsos mob no, ntau cov kev tshem tawm ntawm cov noob yuav tshwm sim, thiab yog li ntawd cov yam ntxwv ntawm ib tus neeg yuav txawv heev ntawm lwm qhov. Txawm li cas los xij, ntawm cov yam ntxwv ua tau tuaj yeem yog:

• Puag ncig lub qhov muag
• Me me, tsa ntswg ntswg
• Lub puab tsaig me me
• Muag heev ntawm daim tawv nqaij
• Starry iris hauv cov neeg muaj qhov muag xiav
• Luv luv thaum yug thiab tsis ntev txog 1 txog 2 cm hauv qhov siab hauv ib xyoos
• Curly plaub hau
• Nqaij daim di ncauj
• Siv rau kev seev suab, nqua yas suab thiab twj paj nruas
• Noj pub nyuaj
• Kev mob plab hnyuv
• Pw tsaug zog cuam tshuam
• Congenital mob plawv
• Arterial tawg
• Rov mob pob ntseg
• Strabismus
• Cov hniav me dhau sib nrug
• Nquag to taub, yooj yim ntawm kev sib txuas lus
• Qee qhov kev xiam oob khab, suav txij li me me mus rau theem nrab
• Saib xyuas kev tsim txom thiab hyperactivity
• Thaum muaj hnub nyoog kawm ntawv muaj kev nyuaj nyeem ntawv, hais lus thiab ua lej,

Nws yog ib txwm muaj rau cov neeg muaj tus mob no yuav muaj teeb meem kev noj qab haus huv xws li ntshav siab, otitis, mob txeeb zig, raum tsis ua haujlwm, mob endocarditis, mob hniav, nrog rau scoliosis thiab kev cog lus ntawm cov pob qij txha, tshwj xeeb tshaj yog thaum pub quav.

Kev txhim kho lub cev muaj zog qeeb qeeb, siv sijhawm taug kev, thiab lawv muaj kev nyuaj ua tiav cov haujlwm uas yuav tsum muaj kev sib koom ua ke, xws li txiav ntawv, kos duab, caij tsheb kauj vab lossis khi lawv cov khau.

Thaum koj yog ib tus neeg laus, kev mob hlwb xws li kev nyuaj siab, kev npau suav kev tsis haum, phobias, kev ntshai tuaj tom qab thiab kev mob siab tom qab.

Yuav kuaj li cas

Tus kws kho mob tshawb pom tias tus menyuam muaj Williams-Beuren syndrome thaum saib nws tus yam ntxwv, raug lees paub los ntawm kev kuaj ntsuas keeb, uas yog ib hom kev kuaj ntshav, hu ua fluorescent hauv situ hybridization (FISH).

Kev ntsuam xyuas xws li ultrasound ntawm lub raum, kev ntsuam xyuas ntshav siab thiab ua kom muaj echocardiogram kuj tseem tuaj yeem pab tau. Tsis tas li ntawd, muaj cov calcium nyob rau hauv cov ntshav, ntshav siab, cov pob qij txha xoob thiab cov duab hnub qub ntawm lub ntsej muag, yog tias lub qhov muag xiav.

Qee qhov peculiarities uas tuaj yeem pab hauv kev txheeb xyuas tus mob no yog tias tus menyuam lossis tus neeg laus tsis nyiam hloov thaj chaw txawm lawv nyob qhov twg los xij, lawv tsis nyiam xuab zeb, tsis nce ntaiv lossis chaw tsis ncaj.

Yuav kho tus mob li cas

Williams-Beuren syndrome tsis muaj kev kho mob thiab yog vim li cas thiaj li yuav tsum muaj nrog kws kho plawv, kws kho mob, kws hais lus, thiab qhia hauv tsev kawm tshwj xeeb yog qhov tsim nyog vim muaj kev puas hlwb uas tus me nyuam muaj. Tus kws kho mob menyuam yaus kuj tseem yuav tuaj kuaj ntshav ntau zaus txhawm rau ntsuas cov tshuaj calcium thiab vitamin D, uas feem ntau nce siab.