Koj puas muaj teeb meem pob ntseg tsis hnov ​​lus thaum koj daim tawv nqaij, plaub hau, thiab xim qhov muag hloov pauv? Cia peb tham txog qhov no (Waardenburg Syndrome)!

Tej zaum koj yuav tau pom tias ntawm peb cov neeg, muaj cov neeg uas muaj ib daim plaub hau dawb txij li thaum yau, lossis cov neeg uas muaj ib lub qhov muag xiav thiab lwm lub qhov muag xim av. Ib txhia neeg muaj teeb meem hnov ​​​​lus txij li thaum yau. Tej zaum yuav muaj ib qho laj thawj caj ces tom qab tej yam zoo li no uas peb tsis paub. Qhov ntawd yog ib qho mob tshwj xeeb uas peb yuav tham txog hnub no (Waardenburg Syndrome) . Tsis txhob ntshai, peb yuav tham txog qhov no yooj yim, hauv txoj kev uas koj tuaj yeem nkag siab.

Waardenburg Syndrome yog dab tsi? Tsuas tso...

Zoo, tam sim no cia peb saib seb qhov no (Waardenburg Syndrome) yog dab tsi. Qhov no yog ib qho mob caj ces . Uas yog, nws yog tshwm sim los ntawm kev hloov pauv ntawm cov noob caj ces hauv peb lub cev. Yog hais kom meej, qhov mob no tuaj yeem hloov xim (pigmentation) ntawm koj cov plaub hau, qhov muag, thiab daim tawv nqaij . Tsis yog li ntawd xwb, tab sis qee tus neeg kuj tseem yuav muaj teeb meem hnov ​​​​lus vim qhov no. Muaj plaub hom tseem ceeb ntawm qhov no (Waardenburg Syndrome). Cov hom no yog tshwm sim los ntawm kev hloov pauv sib txawv (kev hloov pauv) hauv rau lub noob caj ces. Txhua hom muaj qee yam ntxwv tshwj xeeb.

Leej twg tau txais Waardenburg Syndrome?

Vim qhov no yog ib qho mob caj ces, nws tuaj yeem cuam tshuam rau txhua tus neeg. Feem ntau, tus menyuam tau txais cov noob caj ces rau qhov mob no los ntawm niam lossis txiv. Hauv cov lus kho mob, qhov no hu ua "autosomal dominant" kev txais qub txeeg qub teg. Hauv qhov xwm txheej ntawd, niam txiv uas muab cov noob caj ces feem ntau kuj muaj qhov mob no. Xav txog, yog tias niam lossis txiv muaj cov yam ntxwv no, tus menyuam kuj tuaj yeem muaj lawv.

Txawm li cas los xij, qee zaum Waardenburg Syndrome hom II thiab IV kuj tuaj yeem kis tau los ntawm "autosomal recessive" gene. Qhov no txhais tau tias ob leeg niam txiv yuav tsum yog cov neeg nqa cov gene cuam tshuam, tab sis lawv tsis muaj tsos mob. Txawm li cas los xij, yog tias ob leeg niam txiv xa cov gene mus rau lawv tus menyuam, tus menyuam tuaj yeem muaj tus mob no.

Tsis tshua muaj tsawg, tus mob no tuaj yeem tshwm sim rau ib tus neeg uas tsis muaj keeb kwm tsev neeg, vim yog muaj kev hloov pauv caj ces tshiab.

Qhov no feem ntau tshwm sim li cas?

Waardenburg Syndrome cuam tshuam txog li ib tus neeg ntawm txhua 40,000 tus neeg . Nws kuj yog lub luag haujlwm rau ntawm 2% thiab 5% ntawm kev poob pob ntseg txij thaum yug los.

Waardenburg Syndrome cuam tshuam kuv lub cev li cas?

Cov kev hloov pauv caj ces uas ua rau qhov no tuaj yeem cuam tshuam rau koj lub pob ntseg . Ib txhia neeg muaj kev hnov ​​​​​​lus zoo li qub, tab sis lwm tus yug los nrog kev poob pob ntseg hnyav (txij li thaum yug los). Cov noob caj ces no kuj tuaj yeem hloov pauv qhov tsos ntawm koj lub qhov muag, daim tawv nqaij, thiab plaub hau . Tej zaum koj yuav muaj ob lossis ntau lub qhov muag xim sib txawv. Qhov mob no tuaj yeem ua rau qee qhov chaw ntawm koj daim tawv nqaij dawb dua li lwm qhov, koj cov plaub hau hloov xim, thiab koj cov plaub hau tig dawb, tshwj xeeb tshaj yog thaum tseem hluas heev .

Cov tsos mob ntawm Waardenburg Syndrome yog dab tsi?

Cov tsos mob ntawm tus kab mob no txawv ntawm ib tus neeg mus rau ib tus neeg. Lawv tuaj yeem txawv txawm tias nyob hauv tib tsev neeg. Cov tsos mob tseem ceeb yog kev hnov ​​​​​​lus tsis zoo thiab cov plaub hau, tawv nqaij, thiab qhov muag plooj. Tsis tas li ntawd, muaj cov tsos mob tshwj xeeb nyob ntawm hom Waardenburg Syndrome. Piv txwv li, hauv hom 1, muaj kev nce ntxiv ntawm qhov deb ntawm ob lub qhov muag, hauv hom 3, muaj qhov tsis zoo ntawm tes thiab ntiv tes, thiab hauv hom 4, kab mob plab hu ua Hirschsprung kab mob .

Kev hnov ​​​​lus tsis zoo

Ib txhia neeg uas muaj tus mob Waardenburg Syndrome yuav muaj teeb meem hnov ​​lus nruab nrab mus rau hnyav heev rau ib lossis ob lub pob ntseg. Txawm li cas los xij, qee zaum, kev hnov ​​lus yuav tsis cuam tshuam li. Qhov kev hnov ​​lus no yog los ntawm noob neej los .

Cov tsos mob ntawm cov xim av

Waardenburg Syndrome tuaj yeem ua rau koj cov plaub hau, tawv nqaij, thiab xim qhov muag hloov pauv, xws li:

• Lub teeb heev, qhov muag xiav.
• Muaj ob lub qhov muag ntawm ob xim. Xav txog, ib lub xiav thiab lwm lub xim av.
• Heterochromia irides yog kev hloov pauv xim ntawm qhov muag (iris) txawm tias nyob hauv tib lub qhov muag.
• Muaj ib daim plaub dawb los yog ib daim plaub ntawm cov plaub hau, feem ntau nyob saum lub hauv pliaj (forelock).
• Cov plaub hau dawb thaum tseem hluas heev.
• Muaj cov pob me me lossis cov thaj ua rau ntawm daim tawv nqaij uas sib dua li lwm qhov chaw (congenital leukoderma) .

Dab tsi yog hom Waardenburg Syndrome?

Muaj plaub hom mob Waardenburg Syndrome tseem ceeb. Tus kws kho mob yuav kuaj mob hom no raws li koj cov tsos mob.

• Hom I: Qhov deb ntawm ob lub qhov muag dav dhau, thiab tus choj ntawm lub qhov ntswg dav.
• Hom II: Kev hnov ​​​​​​lus nruab nrab mus rau hnyav.
• Hom III - Kuj hu ua "Klein-Waardenburg syndrome": hnov ​​tsis tau lus, hloov xim tawv nqaij, thiab tsis zoo li qub ntawm pob txha ntawm tes thiab ntiv tes.
• Hom IV - Kuj hu ua Waardenburg-Shah syndrome: Nrog rau lwm yam ntxwv ntawm Waardenburg syndrome, ib yam mob hu ua Hirschsprung disease kuj tshwm sim. Qhov no tuaj yeem ua rau cem quav hnyav lossis mob plab hnyuv.

Ntawm cov no, hom I thiab II yog hom uas pom ntau tshaj plaws. Hom III thiab IV tsis tshua muaj.

Dab tsi yog cov ua rau muaj Waardenburg Syndrome?

Waardenburg Syndrome yog tshwm sim los ntawm kev hloov pauv hauv ib lossis ntau dua ntawm cov noob hauv qab no:

• `(EDN3)` (rau hom IV)
• `(EDNRB)` (rau hom IV)
• `(MITF)` (rau hom II)
• `(PAX3)` (rau hom I thiab III)
• `(SNAI2)` (rau hom II)
• `(SOX10)` (rau hom IV)

Cov noob caj noob ces no yog cov uas tsim cov hlwb sib txawv hauv peb lub cev. Ntawm lawv, ib hom hlwb tshwj xeeb hu ua "melanocytes" yog ua los ntawm cov hlwb no. Cov hlwb no tsim cov xim "melanin pigment" uas muab xim rau peb daim tawv nqaij, plaub hau, thiab qhov muag.Ntxiv rau kev tsim cov xim, cov hlwb no kuj pab txhawb rau kev ua haujlwm ntawm sab hauv ntawm peb lub pob ntseg. Yog li, yog tias muaj kev hloov pauv hauv ib qho ntawm cov noob caj noob ces no, nws tuaj yeem ua rau muaj cov tsos mob no.

Yuav kuaj li cas Waardenburg Syndrome?

Koj tus menyuam tus kws kho mob yuav kuaj pom Waardenburg Syndrome thaum yug los lossis thaum yau . Lawv yuav kuaj lub cev kom paub cov tsos mob thiab koj tsev neeg keeb kwm kho mob. Koj tus kws kho mob kuj tseem yuav pom zoo kom kuaj cov noob caj noob ces kom paub tseeb tias tau kuaj pom thiab nrhiav lwm cov tsos mob uas cuam tshuam nrog tus mob, xws li:

• Kev kuaj qhov muag.
• Kev ntsuam xyuas kev hnov ​​lus .
• Nyob ntawm seb cov tsos mob zoo li cas, kev kuaj duab yuav ua tau rau ntawm pob ntseg sab hauv, tes thiab ntiv tes, lossis txoj hnyuv.

Yuav kho Waardenburg Syndrome li cas?

Tsis yog txhua hom Waardenburg Syndrome yuav tsum tau kev kho mob. Txawm li cas los xij, yog tias muaj cov tsos mob, lawv yuav raug kho raws li qhov xav tau. Piv txwv li:

• Siv cov khoom pab hnov ​​lus lossis phais lub cochlear implant rau kev hnov ​​lus tsis zoo.
• Siv tshuaj pleev thaiv hnub los tiv thaiv cov cheeb tsam uas muaj kev hloov pauv ntawm daim tawv nqaij los ntawm lub hnub .
• Yog koj muaj mob raws plab (tshwj xeeb yog hom IV), noj tshuaj lossis noj zaub mov uas muaj fiber ntau .
• Phais mob kom tshem tawm lossis kho ib feem ntawm txoj hnyuv uas raug thaiv (hom IV).
• Siv cov tshuaj pleev lossis tshuaj pleev kom tswj tau kev noj qab haus huv ntawm daim tawv nqaij.

Puas tuaj yeem tiv thaiv Waardenburg Syndrome?

Vim qhov no yog tshwm sim los ntawm kev hloov pauv caj ces, tsis muaj txoj hauv kev tiag tiag los tiv thaiv nws . Txawm li cas los xij, yog tias koj xav paub koj qhov kev pheej hmoo ntawm kev muaj menyuam nrog tus mob caj ces, koj tuaj yeem tham nrog tus kws kho mob txog kev sab laj thiab kev kuaj caj ces .

Yog tias kuv tus menyuam muaj Waardenburg Syndrome, kuv yuav tsum xav li cas?

Yog tias koj tus menyuam raug kuaj pom tias muaj Waardenburg Syndrome, nws yog ib qho tseem ceeb uas yuav tsum tau kuaj xyuas kev hnov ​​​​lus tsis tu ncua thoob plaws lawv lub neej. Qhov no yuav suav nrog kev mus ntsib kws kho mob lossis kws kho mob pob ntseg. Qhov no yog vim tias cov teeb meem hnov ​​​​lus uas tshwm sim thaum yau tuaj yeem ncua kev loj hlob thiab cuam tshuam rau kev loj hlob ntawm kev paub . Txawm li cas los xij, cov neeg uas muaj tus mob no feem ntau tuaj yeem tau txais txiaj ntsig los ntawm cochlear implants thiab cov khoom siv pab hnov ​​​​lus .

Qhov tseem ceeb tshaj plaws yog txheeb xyuas koj tus menyuam qhov kev hnov ​​​​lus thaum ntxov thiab muab kev pab cuam tsim nyog.

Koj tus menyuam cov plaub hau, qhov muag, thiab daim tawv nqaij yuav ua rau lawv xav tias txawv ntawm lawv cov phooj ywg. Hauv cov xwm txheej zoo li no, qee tus menyuam tau txais txiaj ntsig los ntawm cov txheej txheem kev cob qhia kev puas siab puas ntsws xws li kev kho mob kev coj cwj pwm (CBT) los pab lawv txhim kho lawv txoj kev ntseeg siab rau tus kheej.

Cov neeg uas muaj tus kab mob Waardenburg Syndrome muaj lub neej ntev li qub . Tsis muaj tshuaj kho qhov no, tab sis cov tsos mob tuaj yeem tswj tau thiab tib neeg tuaj yeem ua neej zoo.

Kuv yuav tsum mus ntsib kws kho mob thaum twg?

Yog tias koj cov tsos mob ua rau nws nyuaj rau ua tej yam txhua hnub, tshwj xeeb tshaj yog tias koj hnov ​​​​lus tsis zoo , lossis yog tias koj muaj teeb meem xws li cem quav ntau zaus , nco ntsoov mus ntsib kws kho mob.

Kuv yuav tsum nug tus kws kho mob li cas?

Thaum koj mus ntsib kws kho mob, koj tuaj yeem nug cov lus nug zoo li no:

• Kuv puas yuav tsum tau siv lub tshuab pab hnov ​​lus?
• Kuv puas yuav tsum tau phais kom kuv pob ntseg zoo dua?
• Kuv yuav tiv thaiv kuv daim tawv nqaij ntawm lub hnub li cas?
• Yog tias kuv cov plaub hau hloov xim, kuv puas tuaj yeem zas kuv cov plaub hau?

Thaum kawg, yuav tsum nco ntsoov li cas (Cov Lus Coj Mus Tsev)

Txawm hais tias tej zaum koj yuav muaj qee qhov kev hloov pauv hauv koj qhov tsos vim yog Waardenburg Syndrome, cov no yog cov yam ua rau koj tshwj xeeb . Qee zaum, tshwj xeeb tshaj yog rau cov menyuam yaus, yog tias cov tsos mob no ua rau koj tsis xis nyob, nws yog ib lub tswv yim zoo los tham nrog tus kws pab tswv yim kev noj qab haus huv ntawm lub hlwb kom pab lawv txhim kho lawv txoj kev ntseeg siab rau tus kheej . Yog tias koj tus menyuam raug kuaj pom tias muaj Waardenburg Syndrome, saib xyuas lawv txoj kev loj hlob zoo thoob plaws lawv thaum yau. Qhov no yuav pab xyuas kom meej tias cov tsos mob tsis cuam tshuam rau lawv txoj kev loj hlob ntawm kev txawj ntse lossis lawv lub peev xwm loj hlob zoo. Tsis txhob txhawj, nrog cov lus qhia kho mob thiab kev txhawb nqa zoo, koj tuaj yeem nyob tau zoo nrog tus mob no!

Waardenburg Syndrome, cov kab mob caj ces, kev hloov xim tawv nqaij, kev hloov xim plaub hau, kev hloov xim qhov muag, kev hnov ​​​​lus tsis zoo, kev hnov ​​​​lus tsis zoo txij thaum yug los