Koj tus me nyuam puas muaj teeb meem hnov ​​lus thiab lub caj pas? Cia peb kawm txog Pendred Syndrome!

Koj tus me nyuam puas tsis ntshai thaum hnov ​​suab nrov? Los yog nws puas tsis tig rov qab thaum lawv hu nws lub npe? Qee zaum, tom qab tej yam no, tej zaum yuav muaj ib yam mob caj ces uas peb tsis xav txog. Qhov ntawd yog qhov uas Pendred Syndrome yog. Tsis txhob txhawj, hnub no peb yuav tham txog qhov no yooj yim, hauv txoj kev uas koj nkag siab tau.

Pendred Syndrome yog dab tsi?

Hais yooj yim xwb, Pendred Syndrome yog ib yam mob caj ces tsis tshua muaj . Hauv qhov no, koj tus menyuam yuav yug los nrog kev hnov ​​​​​​lus tsis zoo mus tas li. Qhov kev hnov ​​​​​​lus tsis zoo no feem ntau cuam tshuam rau ob lub pob ntseg thiab tej zaum yuav hnyav zuj zus mus. Tsis tas li ntawd, cov menyuam yaus thiab cov tub ntxhais hluas uas muaj Pendred Syndrome yuav muaj tus kab mob goiter , uas yog lub qog thyroid loj hauv caj dab. Qee zaum, tab sis tsis tshua muaj, tus kab mob goiter no kuj tseem tuaj yeem ua rau lub qog thyroid tsis ua haujlwm (hypothyroidism).

Xav txog seb nws yuav nyuaj npaum li cas los nrhiav pom tias koj tus menyuam muaj tus mob no. Tab sis qhov tseem ceeb tshaj plaws yog tsis txhob ntshai . Koj tus kws kho mob yuav pab koj tswj tus mob thiab tswj koj tus menyuam cov tsos mob ntau li ntau tau. Lawv kuj tseem yuav qhia koj txog cov khoom siv pab hnov ​​lus uas haum rau koj tus menyuam, nrog rau cov tswv yim sib txuas lus. Ces qhov kev hnov ​​lus tsis zoo yuav tsis yog qhov teeb meem loj rau koj tus menyuam txoj kev txawj lus thiab kev kawm.

Cov tsos mob ntawm Pendred syndrome yog dab tsi?

Cov tsos mob tseem ceeb thiab pom tseeb tshaj plaws ntawm tus mob no yog kev hnov ​​​​​​lus tsis zoo . Qhov loj ntawm qhov kev hnov ​​​​​​lus no tuaj yeem sib txawv ntawm ib tus neeg mus rau ib tus neeg. Qee tus menyuam yaus tuaj yeem muaj kev hnov ​​​​​​lus tsis zoo me me mus rau qhov hnyav (lag ntseg). Piv txwv li, ib tus menyuam uas muaj kev hnov ​​​​​​lus tsis zoo nruab nrab yuav hnov ​​​​​​cov neeg tham tab sis yuav tsis nkag siab txog qhov lawv hais.

Feem ntau, qhov kev hnov ​​​​lus tsis zoo no tshwm sim thaum yug los, tab sis qee zaum nws tuaj yeem tshwm sim thaum yau, thaum yau, lossis tom qab ntawd.

Cov tsos mob ntawm kev hnov ​​​​​​lus tsis zoo los ntawm Pendred syndrome muaj xws li:

• Ib tug me nyuam mos tsis ntshai txawm tias thaum nws hnov ​​​​​​lub suab nrov nrov.
• Tus me nyuam mos tsis teb thaum hu lub npe.
• Tus me nyuam tsis tau hais nws thawj lo lus yuav luag ib xyoos lawm.
• Pib hais lus lig dua li lwm cov menyuam yaus uas muaj hnub nyoog zoo sib xws.
• Tus me nyuam pheej hais kom koj "hais qhov ntawd dua."

Ntxiv rau cov teeb meem hnov ​​lus no, tej zaum yuav muaj ntau yam tsos mob ntxiv:

• Teeb meem kev sib npaug thaum taug kev - piv txwv li, siv sijhawm me ntsis los pib taug kev. Txawm li cas los xij, qhov no tsis tshwm sim rau txhua tus thiab tsis tshua muaj.
• Kab mob Goiter - Qhov no feem ntau pom thaum tus menyuam loj me ntsis, uas yog, thaum lub hnub nyoog hluas lossis laus.
• Hypothyroidism - Qhov no kuj yog ib qho mob tsis tshua muaj.

Vim li cas tus mob Pendred no thiaj tshwm sim?

Qhov ua rau muaj tus mob Pendred syndrome yog kev hloov pauv ntawm cov noob caj noob ces hu ua 'SLC26A4' . Cov noob caj noob ces no pab peb lub cev tsim cov protein hu ua 'pendrin' . Cov pendrin no muaj feem cuam tshuam rau peb lub pob ntseg thiab kev ua haujlwm ntawm cov qog thyroid. Koj puas paub tias cov qog thyroid tsim cov tshuaj hormones uas tswj peb lub cev siv zog li cas (metabolism).

Yog li ntawd, thaum muaj teeb meem nrog cov protein pendrin no, cov qauv hauv pob ntseg sab hauv ntawm tus menyuam uas muaj feem cuam tshuam nrog kev hnov ​​​​​​lus yuav tsis loj hlob zoo . Qhov no yog qhov ua rau muaj mob hu ua sensorineural hearing loss . "Sensorineural" txhais tau tias qhov kev hnov ​​​​​​lus tsis zoo no yog mus tas li thiab yog tshwm sim los ntawm teeb meem hauv pob ntseg sab hauv nws tus kheej. Cov teeb meem no tuaj yeem suav nrog:

• Cov Qws Dej Hauv Pob Ntseg Loj (EVAs) : Koj cov qaws dej hauv pob ntseg yog cov raj me me uas txuas koj lub pob ntseg sab hauv rau lub taub hau. Muaj ntau tus neeg uas muaj cov qaws dej hauv pob ntseg loj dua yuav hnov ​​​​​​lus tsis zoo.
• Lub cochlea uas muaj tsawg dua "tig" dua li qub : Lub cochlea yog sab hauv tshaj plaws ntawm peb lub cev hnov ​​​​lus. Nws yog ib qho qauv coiled, zoo li lub qhov ntawm tus nab. Nws feem ntau muaj 2 thiab 3/4 tig. Ib tug menyuam uas muaj Pendred syndrome yuav muaj tsawg dua tig hauv lub kauj no dua li ib tus neeg ib txwm. Qhov no kuj cuam tshuam nrog kev hnov ​​​​lus tsis zoo.

Tsis tas li ntawd xwb, zoo li kuv tau hais ua ntej lawm, pendrin kuj cuam tshuam rau txoj kev uas lub qog thyroid ua haujlwm. Yog li, thaum muaj teeb meem nrog lub qog thyroid, nws tuaj yeem o (goiter) thiab tsis tsim cov tshuaj hormones txaus.

Tus menyuam yaus tau txais Pendred syndrome li cas?

Qhov no yuav zoo li nyuaj me ntsis rau kev nkag siab, tab sis cia kuv hais yooj yim. Ib tug menyuam uas muaj tus kab mob Pendred tau txais tus cwj pwm no hauv tus qauv autosomal recessive . Okay, qhov no suab nyuaj me ntsis, puas yog? Hais yooj yim, nws zoo li no:

Yuav kom ib tug me nyuam pom cov tsos mob no, lawv yuav tsum tau txais ob daim qauv ntawm qhov kev hloov pauv gene no - ib daim los ntawm lawv niam thiab ib daim los ntawm lawv txiv.

Hauv qhov no, ob leeg niam txiv yog cov neeg nqa cov noob caj noob ces hloov pauv. Ntawd yog, lawv ob leeg muaj ib lub noob caj noob ces hloov pauv thiab ib lub noob caj noob ces ib txwm muaj. Vim yog lub noob caj noob ces ib txwm muaj, niam txiv tsis muaj tus mob Pendred syndrome. Txawm li cas los xij, thaum lawv muaj menyuam, muaj li ntawm 25% feem pua ​​​​​​uas tus menyuam yuav muaj tus mob no. Xav txog nws zoo li tig ob lub npib thiab ob leeg yuav tshwm sim.

Yuav kuaj mob Pendred syndrome li cas?

Yuav ua li cas los xyuas seb puas muaj teeb meem hnov ​​lus hauv cov menyuam mosFeem ntau kev kuaj pob ntseg yog ua hauv tsev kho mob. Yog tias kev kuaj pob ntseg qhia tias koj hnov ​​​​​​lus tsis zoo, yuav tsum tau kuaj ntxiv kom paub meej tias koj tau kuaj mob. Tsuas yog tom qab ntawd thiaj li kuaj tshwj xeeb ntxiv los kuaj xyuas Pendred syndrome. Lossis, yog tias koj xav tias koj tus menyuam muaj teeb meem pob ntseg, koj tuaj yeem mus ntsib kws kho mob. Thaum lub sijhawm no, koj yuav pom tus kws kho mob pob ntseg (ENT) lossis tus kws tshwj xeeb txog noob caj noob ces .

Tus kws kho mob yuav nug koj cov lus nug txog koj tus menyuam qhov teeb meem hnov ​​lus. Piv txwv li, koj thawj zaug pom nws thaum twg thiab puas muaj leej twg hauv koj tsev neeg puas tau muaj teeb meem hnov ​​lus ua ntej. Vim tias tus kab mob Pendred yog los ntawm noob caj ces, nws muaj peev xwm hais tias ib tug neeg hauv koj tsev neeg kuj tau muaj nws thiab.

Cov kev kuaj no pab kuaj mob Pendred syndrome:

• Kev ntsuam xyuas kev hnov ​​lus : Cov no suav nrog kev ntsuam xyuas xws li Otoacoustic Emissions (OAE) thiab Auditory Brainstem Response (ABR) . Cov no saib xyuas kev ua haujlwm ntawm pob ntseg sab hauv thiab txoj kev hnov ​​lus. Thaum tus menyuam loj hlob tuaj, yuav muaj kev ntsuam xyuas ntxiv kom pom tias qhov kev hnov ​​lus puas hloov pauv.
• Kev Ntsuas Duab : Kev ntsuas CT lossis MRI yog ua los nrhiav cov qauv tsis zoo hauv pob ntseg sab hauv. Piv txwv li, cov kev ntsuas no tuaj yeem nrhiav cov vestibular aqueducts (EVAs) loj dua lossis cochlea tsis zoo.
• Kev kuaj mob caj ces : Kev kuaj ntshav los xyuas seb puas muaj kev hloov pauv ntawm SLC26A4 gene tuaj yeem lees paub qhov kev kuaj mob.

Yog tias koj tus menyuam muaj mob goiter, lawv kuj tseem yuav mus ntsib kws kho mob endocrinologist kom kuaj xyuas cov teeb meem thyroid.

Yuav kho tus mob Pendred syndrome li cas?

Yog hais qhov tseeb, tseem tsis tau muaj tshuaj kho tau tus mob Pendred syndrome no . Txawm li cas los xij, muaj ntau txoj kev xaiv los tswj tus mob no. Kev kho mob nyob ntawm ntau yam, xws li muaj qhov tsis zoo li cas hauv pob ntseg sab hauv ntawm tus menyuam thiab qhov hnov ​​​​​​lus tsis zoo hnyav npaum li cas.

Cov kev xaiv kho mob rau Pendred syndrome:

• Kev kawm thiab kev sib txuas lus: Yuav tsum tau kev pab kom tus menyuam kawm lwm txoj kev sib txuas lus thiab sib tham nrog lwm tus, tsis yog tsuas yog los ntawm kev hnov ​​​​​​lus xwb. Piv txwv li, tej yam xws li kev siv lus piav tes.
• Cov khoom siv pab hnov ​​lus : Cov khoom pab hnov ​​lus lossis cov khoom cog rau hauv lub qhov ntswg kom pab koj tus menyuam hnov ​​lus zoo dua.Yog, tej zaum yuav tsim nyog. Cov khoom siv no pab tau zoo heev, tsawg kawg tus menyuam pib hnov ​​​​​​suab. Tus kws kho mob pob ntseg thiab tus kws kho mob pob ntseg, qhov ntswg thiab caj pas ua haujlwm ua ke los pom zoo cov cuab yeej siv kho mob hnov ​​​​​​lus zoo tshaj plaws rau tus menyuam.
• Kev Kho Mob Thyroid : Yog tias koj tus menyuam muaj mob thyroid tsis ua haujlwm zoo (hypothyroidism), lawv yuav tsum tau noj cov tshuaj thyroid hormone (thyroid supplements). Yog tias tus kab mob goiter loj heev, nws yuav tsum tau phais tshem tawm (thyroidectomy).

Yog tias kuv tus menyuam muaj tus mob Pendred syndrome, kuv yuav tsum xav li cas?

Feem ntau ntawm cov mob Pendred syndrome , kev hnov ​​​​​​lus tsis zoo maj mam zuj zus (kev hnov ​​​​​​lus tsis zoo zuj zus) . Ib txhia menyuam yaus yuav hnov ​​​​​​lus tsis zoo tag nrho raws sijhawm. Txawm li cas los xij, qhov hnyav ntawm qhov no txawv ntawm ib tus neeg mus rau ib tus neeg. Ntau tus menyuam siv cov khoom pab hnov ​​​​​​lus lossis cochlear implants kom hnov ​​​​​​lus zoo li qub thiab nyob zoo. Pab pawg kho mob ntawm koj tus menyuam yuav qhia koj txog cov kev kho mob zoo tshaj plaws los pab koj tus menyuam hnov ​​​​​​lus.

Qhov tseem ceeb tshaj plaws yog nrhiav pom tus mob no thiab pib kho sai li sai tau. Ua li no, tus menyuam thiaj li kawm tau kev sib txuas lus nrog lwm tus thiab vam meej nrog lwm tus menyuam uas muaj hnub nyoog li nws.

Kab mob Pendred yog ib yam mob uas yuav mob mus ib txhis. Txawm li cas los xij, nws tsis tau txhais hais tias tus me nyuam yuav tsis nkag siab lwm tus lossis qhia lawv lub tswv yim.

Kuv yuav tsum saib xyuas kuv tus menyuam li cas?

Yog tias koj tus menyuam muaj tus kab mob Pendred, nws yog ib qho tseem ceeb uas yuav tsum tiv thaiv lawv kom tsis txhob raug mob taub hau, ib yam li lwm tus menyuam . Piv txwv li, hnav lub kaus mom hlau thaum caij tsheb kauj vab tuaj yeem pab txo qhov kev pheej hmoo ntawm kev hnov ​​​​​​lus tam sim ntawd vim yog raug mob taub hau hauv qhov xwm txheej. Tej yam me me zoo li no tuaj yeem ua qhov sib txawv loj.

Kuv yuav tsum mus ntsib kws kho mob thaum twg?

Cia peb tso tseg seb qhov ua rau muaj tus mob Pendred syndrome lossis lwm yam. Yog tias koj pom muaj kev hloov pauv lossis qhov tsis zoo ntawm koj tus menyuam lub pob ntseg, koj yuav tsum mus ntsib kws kho mob. Vim tias thaum koj kuaj mob sai dua, koj tuaj yeem tswj hwm qhov kev hnov ​​​​​​lus tsis zoo thiab pib kho sai dua. Qhov ntawd tseem ceeb heev rau tus menyuam yav tom ntej.

Kuv yuav tsum nug kuv tus menyuam tus kws kho mob li cas?

Thaum koj mus ntsib kws kho mob, npaj txhij nug cov lus nug zoo li no:

• Leej twg yuav yog ib feem ntawm pab pawg kho mob uas kho kuv tus menyuam? (piv txwv li, kws kho mob ENT, kws kho mob pob ntseg, kws kho mob caj ces)
• Cov cim qhia tias kuv tus menyuam hnov ​​lus tsis zoo zuj zus yog dab tsi?
• Cov kev xaiv kho mob yog dab tsi?
• Koj lub sijhawm kho mob uas koj xav kom ua yog dab tsi?
• Muaj lwm yam kev ua ub ua no dab tsi uas yuav ua rau kuv tus menyuam hnov ​​lus tsis zoo? (piv txwv li, suab nrov nrov, qee yam kev ua si)
• Muaj cov peev txheej dab tsi los pab cov menyuam yaus thiab cov niam txiv daws teeb meem kev hnov ​​​​lus thaum yau? (piv txwv li, cov kev pab tswv yim, cov pab pawg txhawb nqa)

Nrog rau tus mob Pendred syndrome, ib tug me nyuam yuav poob lub peev xwm hnov ​​​​​​cov suab uas pab lawv txuas nrog lawv ib puag ncig. Txawm li cas los xij, qhov no tsis tau txhais hais tias tus me nyuam yuav tsum zam cov kev sib cuam tshuam no mus ib txhis. Cov khoom siv pab hnov ​​​​​​lus tuaj yeem pab tau zoo rau ntau tus me nyuam uas muaj tus mob no. Kev kawm cov txuj ci sib txuas lus thaum yau tuaj yeem pab koj tus me nyuam kom muaj kev sib raug zoo ntau dua, txawm tias lawv qhov kev hnov ​​​​​​lus poob ntau npaum li cas los xij. Pab neeg saib xyuas kev noj qab haus huv ntawm koj tus menyuam yuav tuaj yeem tham nrog koj txog cov kauj ruam uas koj thiab koj tsev neeg tuaj yeem ua los pab koj tus me nyuam. Ua siab loj, koj tsis nyob ib leeg!

Tej yam tseem ceeb uas yuav tsum nco ntsoov (Cov Lus Qhia Coj Mus Tsev)

• Pendred Syndrome yog ib yam mob caj ces uas feem ntau ua rau hnov ​​​​lus tsis zoo thiab qee zaum mob pob ntseg.
• Kev kuaj pom thiab kho thaum ntxov yog qhov tseem ceeb heev. Qhov no tuaj yeem txhim kho tus menyuam lub neej zoo dua.
• Txawm hais tias tsis muaj kev kho mob los xij, muaj ntau txoj hauv kev los tswj nws. Cov no suav nrog cov khoom siv pab hnov ​​​​lus, kev kho kev hais lus, thiab, yog tias tsim nyog, kev kho mob thyroid.
• Nws yog ib qho tseem ceeb heev uas yuav tsum muab kev hlub, kev txhawb nqa, thiab kev txhawb zog rau tus menyuam. Thaum ua raws li cov lus qhia kho mob, pab tus menyuam kom ua neej zoo li qub thiab muaj kev zoo siab.
• Tiv thaiv koj tus menyuam kom tsis txhob raug mob taub hau. Qhov no yuav txo qhov uas yuav ua rau pob ntseg tsis hnov ​​lus zoo zuj zus.

Yog koj muaj lus nug ntxiv txog qhov no, tsis txhob ntshai tham nrog koj tus kws kho mob. Lawv yeej ib txwm npaj pab koj.

Pendred syndrome, kev hnov ​​lus tsis zoo, tonsillitis, cov kab mob caj ces, kev noj qab haus huv ntawm menyuam yaus, cov khoom siv pab hnov ​​lus, thyroid