Puas muaj qhov txawv ntawm koj tus me nyuam lub qhov muag? Puas yog nws yog Axenfeld-Rieger Syndrome?

Qhov kev xyiv fab uas koj hnov ​​thaum koj saib ib tug menyuam mos yog qhov tsis muaj peev xwm piav tau, puas yog? Tab sis qee zaum, nws yog ib qho ib txwm muaj kev ntshai me ntsis thaum koj pom qhov txawv ntawm cov qhov muag me me ntawd, lossis lwm yam me me. Yog vim li ntawd nws thiaj li tseem ceeb uas yuav tsum paub txog qee yam mob tsis tshua muaj.

Axenfeld-Rieger syndrome yog dab tsi?

Zoo, yog li cia peb tham txog Axenfeld-Rieger syndrome. Hais yooj yim xwb, qhov no yog ib qho mob caj ces tsis tshua muaj . Uas yog, nws yog tshwm sim los ntawm kev hloov pauv hauv cov noob caj ces ntawm tus menyuam. Nws feem ntau cuam tshuam rau qhov muag ntawm cov menyuam mos. Txawm li cas los xij, qee zaum nws tuaj yeem cuam tshuam rau kev loj hlob ntawm lwm qhov ntawm lub cev tsis suav nrog qhov muag. Yav dhau los, qhov no kuj hu ua Axenfeld anomaly.

Feem ntau cov kws kho mob kuaj mob no thaum tus menyuam yug los lossis thaum cov tsos mob pib tshwm sim. Nws yog tshwm sim los ntawm kev hloov pauv hauv koj tus menyuam cov noob caj noob ces, lossis DNA sequence. Nyob ntawm seb Axenfeld-Rieger syndrome cuam tshuam li cas rau tus menyuam lub qhov muag, kev pom kev tuaj yeem cuam tshuam. Tsis tas li ntawd, lwm yam teeb meem qhov muag tuaj yeem tshwm sim raws sijhawm. Tus mob feem ntau cuam tshuam rau ob lub qhov muag. Qhov tseem ceeb, ntau dua ib nrab ntawm cov menyuam mos uas muaj Axenfeld-Rieger syndrome yuav muaj tus kab mob qhov muag hu ua glaucoma thaum twg hauv lawv lub neej.

Hom kev kho mob uas koj tus menyuam xav tau yuav nyob ntawm seb cov tsos mob ntawm Axenfeld-Rieger syndrome thiab lawv hnyav npaum li cas. Thaum koj tus menyuam loj hlob tuaj, lawv yuav tsum tau kuaj qhov muag tas li kom paub txog kev hloov pauv ntawm lawv lub qhov muag. Koj tus kws kho qhov muag lossis koj tus menyuam tus kws kho mob yuav qhia rau koj paub tias koj yuav tsum tau kuaj qhov muag no ntau npaum li cas.

Qhov txawv ntawm Axenfeld-Rieger syndrome thiab Aniridia yog dab tsi?

Tam sim no tej zaum koj yuav xav paub tias qhov txawv ntawm Axenfeld-Rieger syndrome thiab lwm yam mob qhov muag hu ua Aniridia yog dab tsi. Ob qho tib si yog cov mob uas muaj txij thaum yug los , txhais tau tias lawv muaj thaum yug los, thiab ob qho tib si cuam tshuam rau lub qhov muag ntawm tus menyuam.

Aniridia yog, hais yooj yim xwb, qhov tsis muaj qhov xim ntawm lub qhov muag, uas yog lub iris. Tej tus menyuam mos yuav tsis pom lub iris no kiag li, thaum lwm tus yuav tsis pom ib feem.

Txawm li cas los xij, Axenfeld-Rieger syndrome feem ntau cuam tshuam rau chav pem hauv ntej ntawm lub qhov muag. Tsis tas li ntawd, nws cuam tshuam ntau dua li lub lens xwb. Raws li tau hais ua ntej, nws kuj tseem tuaj yeem cuam tshuam rau kev loj hlob ntawm lwm qhov ntawm lub cev. Ob qho mob no feem ntau raug kuaj pom thaum yug los. Yog tias koj pom muaj kev hloov pauv hauv koj tus menyuam lub qhov muag lossis kev pom kev, nco ntsoov mus ntsib kws kho qhov muag.

Tus mob no feem ntau tshwm sim li cas?

Axenfeld-Rieger syndrome yog ib yam mob tsis tshua muaj. Nws tsuas cuam tshuam rau ib tus ntawm 200,000 tus menyuam mos uas yug txhua xyoo. Yog li ntawd, ntau tus neeg yuav tsis tau hnov ​​​​​​txog nws.

Cov tsos mob ntawm Axenfeld-Rieger syndrome yog dab tsi?

Cov tsos mob ntawm Axenfeld-Rieger syndrome muaj ob pawg tseem ceeb:

• Cov tsos mob ntawm qhov muag: Cov tsos mob uas cuam tshuam rau koj tus menyuam lub qhov muag.
• Cov tsos mob ntawm lub cev: Cov tsos mob uas tshwm sim nrog kev loj hlob ntawm lwm qhov hauv lub cev ntawm tus menyuam.

Cov tsos mob ntawm qhov muag

Ua ntej, cia peb saib seb yam ntxwv twg pom tau ntsig txog qhov muag:

• Cov qhov muag nyias nyias lossis tsis loj hlob zoo: Qhov muag uas muaj xim yuav tsis loj hlob tag nrho.
• Cov menyuam qhov muag tsis nyob hauv nruab nrab: Qhov dub ntawm lub qhov muag, lub menyuam qhov muag, tej zaum yuav tsis nyob hauv nruab nrab me ntsis.
• Teeb meem nrog rau sab pem hauv ntej ntawm lub qhov muag (cornea): Muaj tej yam teeb meem tshwm sim tau nrog rau lub cornea, uas yog sab pem hauv ntej ntawm lub qhov muag.

Vim yog tus mob Axenfeld-Rieger syndrome, koj tus menyuam yuav muaj feem ntau dua rau ntau yam kab mob ntawm qhov muag. Cov kab mob tseem ceeb yog:

• Glaucoma: Qhov no yog ib qho uas tshwm sim ntau heev.
• Cataracts: Cataracts .
• Coloboma: Poob ib feem ntawm lub qhov muag.
• Macular degeneration: Kev puas tsuaj rau ib feem ntawm lub retina.
• Strabismus (qhov muag sib tshuam): Qhov muag sib tshuam.

Cov tsos mob ntawm lub cev uas cuam tshuam rau lwm qhov ntawm lub cev

Tam sim no cia peb saib cov tsos mob uas cuam tshuam rau lwm qhov ntawm lub cev. Cov no tsis tshua muaj ntau npaum li cov tsos mob uas cuam tshuam rau lub qhov muag. Txawm li cas los xij, yog tias koj tus menyuam muaj cov tsos mob no, lawv yuav yog:

• Teeb meem ntawm lub taub hau:
• Hypertelorism: Qhov muag dav thiab lub ntsej muag tiaj tus.
• Qee zaum tus menyuam lub hauv pliaj yuav dav dua thiab tawm mus rau pem hauv ntej.
• Cov tsos mob ntawm cov hniav:
• Cov menyuam mos uas muaj tus kab mob Axenfeld-Rieger qee zaum yug los nrog cov hniav me me txawv txawv.
• Tej zaum yuav muaj ib txhia hniav ploj lawm.
• Daim tawv nqaij ntxiv:
• Tej zaum yuav muaj cov tawv nqaij ntxiv rau ntawm lub plab ntawm tus menyuam, ze ntawm lub pob tw .
• Rau cov tub hluas, qee zaum koj tuaj yeem pom daim tawv nqaij ntxiv rau hauv qab ntawm tus qau.
• Cov qhov zis lossis qhov quav nqaim.
• Cov teeb meem plawv: Qee zaum cov teeb meem plawv uas yug los kuj tuaj yeem tshwm sim tau.
• Teeb meem ntawm cov qog pituitary: Cov menyuam mos uas muaj tus kab mob Axenfeld-Rieger qee zaum yuav muaj kev loj hlob qeeb. Qhov no txhais tau tias lawv siv sijhawm ntev dua los loj hlob dua li lwm tus menyuam.

Dab tsi ua rau muaj tus mob Axenfeld-Rieger syndrome?

Axenfeld-Rieger syndrome yog ib qho mob caj ces . Uas yog, nws tau txais los ntawm niam txiv mus rau cov menyuam. Cov kws kho mob kuj hu nws ua mob txij thaum yug los. Nws feem ntau yog tshwm sim los ntawm kev hloov pauv hauv cov noob FOXC1 thiab PITX2. Ob lub noob no feem ntau pab tswj kev loj hlob ntawm tus menyuam, tshwj xeeb tshaj yog kev loj hlob ntawm lub qhov muag, thaum lub sijhawm cev xeeb tub.

Axenfeld-Rieger syndrome yog ib qho mob caj ces autosomal dominant. Hais yooj yim xwb, qhov no txhais tau tias ib tug me nyuam yuav tsum tau txais cov gene nrog qhov kev hloov pauv no los ntawm ib tug ntawm lawv niam lawv txiv thiaj li muaj tus mob no. Txawm li cas los xij, qhov no tsis tau txhais hais tias yog tias koj muaj qhov kev hloov pauv no hauv koj cov noob caj ces, koj tus me nyuam yuav muaj Axenfeld-Rieger syndrome. Txawm li cas los xij, muaj 50% feem pua ​​​​​​uas qhov no yuav tshwm sim. Yog xav paub ntxiv txog qhov no, nrog koj tus kws kho mob tham txog kev sab laj txog kev hloov pauv caj ces.

Yuav kuaj mob Axenfeld-Rieger syndrome li cas? (Kev kuaj mob)

Koj tus kws kho mob lossis kws kho qhov muag yuav yog tus kuaj mob rau koj tus menyuam uas muaj Axenfeld-Rieger syndrome. Raws li tau hais ua ntej lawm, yog tias koj tus menyuam muaj teeb meem pom tseeb nrog lawv lub qhov muag lossis lwm qhov ntawm lawv lub cev thaum yug los, nws yuav raug kuaj pom thaum yug los. Xwb, nws yuav raug kuaj pom tom qab tus menyuam pib pom cov tsos mob.

Tus kws kho qhov muag yuav kuaj xyuas tag nrho lub qhov muag kom paub meej tias tus menyuam lub qhov muag zoo li cas (xws li sab hauv). Muaj ntau yam kev kuaj uas yuav ua tau los kuaj mob Axenfeld-Rieger syndrome, xws li:

• Kev ntsuam xyuas qhov muag pom kev: Xyuas seb tus menyuam puas pom kev tsis zoo.
• Gonioscopy: Tshawb xyuas seb puas muaj glaucoma.
• Kev kuaj DNA thiab kev kuaj noob caj noob ces: Xyuas kom pom tias tus menyuam puas muaj kev hloov pauv noob caj noob ces uas ua rau muaj Axenfeld-Rieger syndrome.

Cov kev kho mob rau Axenfeld-Rieger syndrome yog dab tsi?

Kev kho mob rau Axenfeld-Rieger syndrome nyob ntawm seb koj tus menyuam cov tsos mob nyob qhov twg thiab lawv ua rau muaj teeb meem dab tsi. Tham nrog koj tus kws kho mob lossis kws kho qhov muag txog kev kho mob uas koj tus menyuam xav tau thiab lawv yuav tsum tau kuaj mob ntau npaum li cas los saib xyuas kev hloov pauv hauv lawv lub qhov muag thiab lub cev.

Kev Kho Mob Glaucoma

Cov menyuam yaus uas muaj Axenfeld-Rieger syndrome muaj feem yuav mob glaucoma ntau dua, thiab tej zaum yuav tsum tau kho rau qee lub sijhawm hauv lawv lub neej.

Kab mob Glaucoma yog ib lub npe dav dav rau ib pawg kab mob qhov muag uas ua rau lub paj hlwb optic puas tsuaj. Yog tias tsis kho sai sai, kab mob glaucoma tuaj yeem ua rau dig muag tas mus li. Feem ntau, cov kua dej sib sau ua ke hauv pem hauv ntej ntawm lub qhov muag. Cov kua dej ntxiv no ua rau muaj kev ntxhov siab hauv lub qhov muag (kev ntxhov siab hauv qhov muag - IOP, lossis kev ntxhov siab ntawm lub qhov muag), uas maj mam ua rau lub paj hlwb optic puas tsuaj.

Cov kev kho mob tseem ceeb rau glaucoma yog:

• Cov tshuaj pleev qhov muag.
• Kev kho mob laser: Tshem cov kua dej ntawm lub qhov muag.
• Kev Phais Mob: Txo qhov siab.

Kev kho mob glaucoma tuaj yeem tswj kev pom kev tsis zoo ntxiv. Txawm li cas los xij, kev pom kev tsis zoo tsis tuaj yeem rov qab tau. Yog li ntawd, yog tias koj tus menyuam muaj cov tsos mob ntawm glaucoma no, nws yog ib qho tseem ceeb heev uas yuav tsum mus ntsib kws kho qhov muag tam sim ntawd:

• Mob qhov muag.
• Mob taub hau hnyav heev.
• Teeb meem pom kev.

Puas tiv thaiv tau tus kab mob Axenfeld-Rieger syndrome?

Yog koj tus menyuam tau txais qhov kev hloov pauv ntawm cov noob caj ces uas ua rau muaj qhov no, nws yuav tsis tuaj yeem tiv thaiv Axenfeld-Rieger syndrome. Yog tias koj txhawj xeeb txog qhov kev pheej hmoo ntawm koj cov menyuam yuav tau txais cov mob caj ces, nrog koj tus kws kho mob tham. Koj kuj tseem yuav raug xa mus rau kev sab laj txog noob caj ces.

Yog tias kuv tus menyuam muaj tus mob Axenfeld-Rieger syndrome, kuv yuav tsum xav li cas?

Tsis yog txhua tus neeg mob Axenfeld-Rieger syndrome zoo ib yam. Nws yuav cuam tshuam rau lub neej ntawm tus menyuam npaum li cas nyob ntawm seb cov tsos mob nyob qhov twg thiab lawv ua rau muaj teeb meem dab tsi. Tham nrog koj tus kws kho mob lossis kws kho qhov muag txog yam yuav tsum tau saib xyuas thaum koj tus menyuam loj hlob tuaj.Yog koj pom muaj cov tsos mob tshiab, nws yog qhov zoo tshaj plaws kom coj lawv mus kuaj mob sai li sai tau.

Kuv yuav tsum mus ntsib kws kho mob thaum twg?

Mus ntsib kws kho mob sai li sai tau thaum koj pom muaj kev hloov pauv hauv koj tus menyuam lub qhov muag lossis kev pom kev.

Thaum twg yuav tsum mus rau chav kho mob ceev:

• Tsis pom kev tam sim ntawd.
• Mob qhov muag heev.
• Lawv pom tej yam tshiab ci ntsa iab los yog tej yam ntab hauv lawv lub qhov muag. Cov no yog cov cim ceeb toom tseem ceeb heev.

Kuv yuav tsum nug tus kws kho mob/kws kho mob li cas?

Thaum koj mus ntsib kws kho mob lossis tus nais maum, tsis txhob hnov ​​qab nug cov lus nug zoo li no:

• Kuv puas yuav tsum tau kuaj DNA kom paub tseeb tias kuv tus menyuam puas muaj tus mob Axenfeld-Rieger syndrome?
• Nws tej zaum yuav muaj cov tsos mob nyob qhov twg? (Puas yog nws tsuas yog nyob rau hauv lub qhov muag xwb, lossis nyob rau hauv lwm qhov ntawm lub cev thiab?)
• Nws xav tau kev kho mob li cas?
• Kuv yuav tsum tau ua tib zoo saib xyuas tej kev hloov pauv twg ntawm nws ob lub qhov muag lossis lub cev?

Cov Lus Qhia Txog Kev Coj Mus Tsev

Axenfeld-Rieger syndrome yog ib yam mob caj ces uas tsis tshua muaj. Nws tuaj yeem cuam tshuam rau koj tus menyuam lub qhov muag. Qee zaum cov tsos mob kuj tuaj yeem tshwm sim rau lwm qhov ntawm lub cev. Nyob ntawm seb koj tus menyuam cov tsos mob li cas, koj tsuas yog yuav tsum tau saib xyuas lawv kom pom tias lawv lub qhov muag lossis kev pom kev hloov pauv. Txawm li cas los xij, nws muaj feem ntau tias koj tus menyuam yuav muaj glaucoma thaum twg hauv lawv lub neej. Yog li, yog tias koj tus menyuam lub qhov muag mob lossis lawv qhov kev pom kev tsis zoo zuj zus, mus ntsib kws kho qhov muag tam sim ntawd.

Yog tias koj txhawj xeeb txog kev kis tus kab mob hloov pauv uas ua rau Axenfeld-Rieger syndrome mus rau koj cov menyuam, tham nrog koj tus kws kho mob. Nws yuav pom zoo kom koj sab laj txog kev hloov pauv caj ces kom pab koj nkag siab txog koj cov kev pheej hmoo. Nco ntsoov, nws yog ib qho tseem ceeb kom paub txog cov mob no thiab nrhiav kev pab kho mob thaum tsim nyog.

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