Koj puas tau poob koj lub pob ntseg tam sim ntawd thiab tsuas yog kiv taub hau xwb? Koj puas tsuas hnov lub suab nrov hauv koj pob ntseg? Txawm hais tias koj xav tias cov no yog tej yam ib txwm muaj, qee zaum tom qab cov no tej zaum yuav muaj ib yam kab mob uas peb tsis tau hnov ntau txog, tab sis peb yuav tsum paub txog. Hnub no peb tab tom tham txog cov kab mob zoo li no. Tus kab mob no yog Neurofibromatosis Type 2, lossis luv luv NF2.
Hais yooj yim xwb, Neurofibromatosis Type 2 (NF2) yog dab tsi?
NF2 yog ib yam mob caj ces uas cuam tshuam rau peb lub paj hlwb. Nws yog tshwm sim los ntawm kev hloov pauv hauv ib lub noob caj ces uas tswj kev loj hlob ntawm cov cell hauv peb lub cev. Qhov kev hloov pauv caj ces no ua rau lub cev tsim cov cell ntau dhau. Cov cell ntau dhau no tuaj yeem sib sau ua ke thiab tsim cov qog nqaij hlav.
Tiamsis tsis txhob txhawj, feem ntau ntawm cov qog no yog cov qog tsis muaj teeb meem , uas txhais tau tias lawv tsis yog qog nqaij hlav. Cov qog no feem ntau tshwm sim hauv:
- Cov hlab ntsha peripheral yog cov hlab ntsha uas nthuav mus rau qee qhov ntawm peb lub cev, xws li ceg.
- Lub membrane ntawm peb lub pob txha taub hau thiab lub hlwb (meninges).
- Pob txha nraub qaum.
- Cov hlab ntsha uas txuas lub hlwb thiab pob ntseg sab hauv, uas pab txhawb kev hnov lus thiab kev sib npaug ntawm lub cev.
NF2 yog ib yam mob uas koom nrog ib pawg kab mob hu ua Neurofibromatosis. Pawg kab mob no feem ntau cuam tshuam rau peb daim tawv nqaij thiab lub paj hlwb.
Tus mob NF2 no muaj ntau npaum li cas hauv zej zog?
Qhov no yog ib qho mob uas tsis tshua muaj. Raws li cov ntaub ntawv txheeb cais, NF2 cuam tshuam rau kwv yees li ib tug ntawm 33,000 tus menyuam mos uas yug los thoob ntiaj teb. Kwv yees li 3% ntawm tag nrho cov neeg mob uas kuaj pom tias muaj neurofibromatosis yog cov neeg mob NF2.
Cov tsos mob ntawm NF2 yog dab tsi?
Cov tsos mob ntawm NF2 yuav txawv ntawm ib tus neeg mus rau ib tus neeg. Lawv nyob ntawm seb cov qog nqaij hlav nyob qhov twg hauv koj lub cev thiab lawv loj npaum li cas. Cov neeg feem coob thawj zaug ntsib cov tsos mob los ntawm cov qog nqaij hlav hauv cov hlab ntsha uas txuas pob ntseg mus rau lub hlwb.
Cia peb saib cov tsos mob no kom nkag siab meej:
| Cov yam ntxwv qeb | Cov tsos mob uas pom ntau zaus |
|---|---|
| Cov tsos mob thaum ntxov uas cuam tshuam nrog cov hlab ntsha hnov lus | |
| Teeb meem sib npaug | kiv taub hau tam sim ntawd |
| Teeb meem hnov lus | Maj mam poob kev hnov lus |
| Suab nrov hauv pob ntseg | Hnov lub suab nrov hauv pob ntseg (Tinnitus) |
| Lwm cov tsos mob ntawm lub paj hlwb | |
| Lwm yam nta |
|
Cov tsos mob feem ntau pib tshwm sim ntawm thaum yau mus txog hnub nyoog 30. Tab sis tus mob no tuaj yeem cuam tshuam rau txhua tus neeg txhua lub hnub nyoog. Rau cov neeg laus, cov hlab ntsha uas txuas pob ntseg rau lub hlwb feem ntau raug cuam tshuam ua ntej. Yog vim li cas cov teeb meem hnov lus yog thawj qhov tshwm sim. Txawm li cas los xij, rau cov menyuam yaus, cov qog feem ntau tshwm sim hauv lub hlwb lossis tus txha caj qaum. Yog tias cov tsos mob tshwm sim thaum yau lossis thaum hluas, nws yuav qhia tau tias tus kab mob hnyav dua.
Cov qog nqaij hlav hom twg tshwm sim hauv NF2?
Muaj ntau hom qog nqaij hlav sib txawv uas tuaj yeem tshwm sim hauv NF2. Cia peb saib lawv sai sai.
| Hom qog | Hais yooj yim xwb... |
|---|---|
| Schwannomas | Cov no yog cov qog ntawm lub paj hlwb uas tsim los ntawm cov hlwb hu ua Schwann. Feem ntau lawv tsim nyob rau hauv cov hlab ntsha uas txuas lub hlwb mus rau pob ntseg sab hauv (vestibular schwannomas). Lawv kuj tuaj yeem tsim nyob rau hauv cov hlab ntsha uas tswj kev txav ntawm lub qhov muag, kev txav ntawm tus nplaig, thiab kev nqos. |
| Meningiomas | Ib hom qog uas tsim nyob rau hauv daim nyias nyias tiv thaiv (meninges) ntawm lub hlwb thiab pob txha taub hau. |
| Gliomas | Cov no yog ib hom qog hauv lub hlwb uas tsim los ntawm cov hlwb hu ua glial cells. Lawv feem ntau tsim nyob ib puag ncig cov hlab ntsha pom. |
| Cov kab mob Ependymomas | Qhov no kuj yog ib hom mob glioma. Nws loj hlob hauv lub hlwb thiab tus txha caj qaum. Nws tshwm sim los ntawm cov hlwb uas ua cov kua dej cerebrospinal (CSF) hauv lub hlwb thiab tus txha caj qaum. |
Vim li cas NF2 thiaj tshwm sim? Dab tsi yog qhov ua rau?
Qhov laj thawj tseem ceeb rau qhov no yog kev hloov pauv hauv cov noob caj noob ces hu ua Neurofibromin 2 (NF2) hauv peb lub cev. Cov noob caj noob ces no pab tsim cov protein hu ua 'merlin'. Lub luag haujlwm tseem ceeb ntawm cov protein no yog los tiv thaiv kev loj hlob ntawm cov qog nqaij hlav. Qhov ntawd txhais tau tias nws yog ib qho tshuaj tiv thaiv qog nqaij hlav .
Yog li ntawd, thaum muaj qhov tsis zoo hauv cov noob NF2 no, cov protein 'Merlin' tsis raug tsim tawm kom zoo. Tom qab ntawd qee cov cell hauv peb lub cev faib tsis tau tswj, nce ntau, thiab sib sau ua ke los ua cov qog.
Qhov kev hloov pauv caj ces no tuaj yeem tau txais los ntawm niam txiv mus rau cov menyuam. Qhov no hu ua tus qauv autosomal dominant. Tab sis rau ntau tus neeg, nws tsis yog los ntawm caj ces. Qhov no txhais tau tias qhov kev hloov pauv caj ces no kuj tuaj yeem muaj thaum cev xeeb tub, tsis muaj keeb kwm tsev neeg.
Vim muaj tus mob no, yuav muaj teeb meem dab tsi tshwm sim?
Yog tias NF2 tsis raug tswj, tej zaum yuav muaj qee yam teeb meem tshwm sim. Cov no suav nrog:
- Tsis hnov lus kiag li
- Kev tsis pom kev
- Kev puas tsuaj rau cov hlab ntsha tas mus li
- Cov kua dej sib sau ua ke rau ntawm lub hlwb (hydrocephalus)
Txawm hais tias cov qog no tsis yog mob qog noj ntshav los xij, muaj feem me me uas qee cov qog NF2 yuav dhau los ua mob qog noj ntshav, tsis tshua muaj. Yog li ntawd, kev kuaj mob tsis tu ncua yog qhov tseem ceeb heev.
Yuav kuaj mob NF2 li cas?
Thaum koj mus ntsib kws kho mob, nws yuav xub kuaj koj kom meej, nug txog koj cov tsos mob thiab seb puas muaj leej twg hauv koj tsev neeg tau muaj tus kab mob no. Tom qab ntawd, nws yuav ua ntau qhov kev kuaj mob kom paub tseeb tias koj tau kuaj pom tus kab mob no:
- Kev kuaj MRI (Magnetic Resonance Imaging): Qhov no tuaj yeem pom tseeb tias muaj qog nqaij hlav hauv lub paj hlwb thiab daim tawv nqaij.
- Kev ntsuam xyuas kev hnov lus: Xyuas seb koj hnov lus zoo npaum li cas.
- Kuaj qhov muag: Xyuas seb puas muaj cataracts lossis lwm yam teeb meem ntawm qhov muag.
- Kev kuaj noob caj noob ces: Txhawm rau kom paub tseeb tias puas muaj qhov tsis zoo hauv NF2 gene.
Cov kev kho mob rau NF2 yog dab tsi?
Tseem tsis tau muaj kev kho rau qhov no. Tab sis tsis txhob txhawj, tam sim no muaj ntau txoj hauv kev siab heev los kuaj mob, kho, thiab tswj cov qog no. Koj tus kws kho mob yuav xaiv txoj kev kho mob uas zoo tshaj plaws rau koj. Cov txheej txheem kho mob yuav txawv ntawm ib tus neeg mus rau ib tus neeg.
Nov yog qee txoj kev kho mob tseem ceeb:
- Kev Phais Mob: Kev phais mob tshem tawm cov qog uas ua rau muaj cov tsos mob. Kev phais mob kuj tseem siv los tshem tawm cov kab mob cataracts.
- Kev Kho Mob Siv Tshuaj lossis Kev Kho Mob Hluav Taws Xob: Cov kev kho mob no yog siv los txo qhov loj ntawm qee cov qog nqaij hlav. Kev kho mob hluav taws xob Stereotactic yog ib txoj kev kho mob hluav taws xob siab heev.
- Cov khoom pab hnov lus thiab pom kev: Cov neeg uas tsis hnov lus siv tau cov khoom siv xws li 'Cov khoom pab hnov lus', 'cochlear implants' lossis 'auditory brainstem implants'. Tej yam xws li tsom iav tuaj yeem pab nrog cov teeb meem pom kev.
- Lwm yam kev pab: Yog tias koj muaj teeb meem nrog kev sib npaug thiab kev taug kev, koj tuaj yeem siv cov khoom siv txav mus los.
- Tshuaj: Tus kws kho mob sau ntawv kom noj tshuaj los tswj cov tsos mob xws li mob.
Qhov tseem ceeb yog tias qee zaum, yog tias cov cysts tsis ua rau koj muaj teeb meem loj, koj tus kws kho mob yuav txiav txim siab tsis kho lawv thiab tsuas yog saib xyuas lawv tsis tu ncua. Yog li ntawd, nws yog ib qho tseem ceeb uas yuav tsum tau kuaj lub cev, MRI scan, thiab kuaj pob ntseg thiab qhov muag tsawg kawg ib xyoos ib zaug.
Kuv yuav tsum mus ntsib kws kho mob thaum twg?
Yog koj muaj ib lossis ntau yam ntawm cov tsos mob hauv qab no, nco ntsoov mus ntsib kws kho mob.
- Kev hloov pauv ntawm qhov muag pom kev.
- Kev hnov lus hloov pauv lossis suab nrov hauv pob ntseg.
- Cov leeg nqaij tsis muaj zog lossis lub ntsej muag poob qis.
- Cov pob khaus tshiab los yog cov pob me me ntawm daim tawv nqaij.
- Mob taub hau tas li.
- Mob hauv cov ceg tsis muaj laj thawj.
- Muaj kev mob nkeeg (mob qaug dab peg).
Feem ntau, kev hloov pauv ntawm kev hnov lus lossis kev pom kev yog thawj cov cim qhia ntawm tus kab mob no. Yog li ntawd, yog tias koj muaj cov tsos mob no, nrhiav kev pab kho mob sai li sai tau.
Cov Lus Qhia Txog Kev Coj Mus Tsev
- Neurofibromatosis Type 2 (NF2) yog ib yam mob uas muaj caj ces ua rau muaj cov qog nqaij hlav uas tsis yog mob qog noj ntshav hauv lub paj hlwb.
- Kev hnov lus tsis zoo, kiv taub hau, thiab suab nrov hauv pob ntseg (tinnitus) yog cov tsos mob thaum ntxov feem ntau.
- Txawm hais tias tseem tsis tau muaj kev kho rau tus kab mob no los xij, muaj ntau txoj hauv kev zoo heev los tswj cov tsos mob thiab kho cov qog nqaij hlav.
- Tom qab kuaj pom tias muaj tus kab mob lawm, nws yog ib qho tseem ceeb heev uas yuav tsum tau saib xyuas koj tus kheej tas li, suav nrog kev kuaj MRI, kuaj pob ntseg thiab qhov muag, thiab kuaj xyuas koj tus kheej tsis tu ncua tsawg kawg ib xyoos ib zaug.
- Yog koj lossis ib tug neeg hauv koj tsev neeg muaj cov tsos mob no, mus ntsib kws kho mob uas tsim nyog tam sim ntawd kom tau txais lus qhia.
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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