Puas muaj qhov txawv ntawm koj tus me nyuam lub qhov muag? Cia peb kawm txog 'Optic Nerve Hypoplasia' thiab 'Septo-Optic Dysplasia'!

Thaum koj ntsia koj tus menyuam , koj puas tau xav tias nws ob lub qhov muag tsis ntsia koj ncaj qha, zoo li lawv tsuas yog khiav ntawm no thiab ntawd, lossis zoo li lawv tsis tuaj yeem nyob hauv ib qho chaw? Koj puas qee zaum xav tias nws tsis saib ib qho khoom ua si me me kom zoo, tsuas yog ua si nrog nws xwb? Nws yog ib qho ib txwm muaj rau niam lossis txiv kom ntshai thiab ntxhov siab thaum lawv pom tej yam zoo li no. Hnub no peb yuav tham txog ib qho mob uas tuaj yeem ua rau muaj cov tsos mob no thiab muaj thaum yug los . Qhov no hu ua 'Optic Nerve Hypoplasia'.

'Optic Nerve Hypoplasia' yog dab tsi?

, ' ' `(Optic Nerve Hypoplasia)` ( `(Congenital)`) . , ' ' ( `(Optic Nerve)` ) . , . , . , . , .

Qhov mob no tsis yog tsuas yog cuam tshuam rau cov hlab ntsha ntawm lub qhov muag xwb. Qee zaum nws kuj tseem tuaj yeem cuam tshuam rau kev loj hlob ntawm lwm qhov ntawm lub hlwb ntawm tus menyuam, tshwj xeeb tshaj yog:

• Kev tsis zoo ntawm lub hlwb nruab nrab: Cov feem ntawm lub hlwb uas cais ob lub hemispheres, xws li septum pellucidum thiab corpus callosum, tej zaum yuav tsis loj hlob zoo. Qee zaum, cov no yuav tsis loj hlob kiag li. Cov no yog qhov tseem ceeb rau kev sib txuas lus ntawm cov feem ntawm lub hlwb.

• Kev Mob Plab Hnyuv: Tej zaum koj yuav tau hnov ​​txog Pituitary Gland. Nws nyob ntawm lub hauv paus ntawm lub hlwb, hauv qab Hypothalamus. Lub qog me me no tswj ntau yam haujlwm tseem ceeb hauv peb lub cev, tshwj xeeb tshaj yog kev tsim cov tshuaj hormones . Yog li ntawd, yog tias lub qog no tsis loj hlob zoo, nws yuav tsis tsim cov tshuaj hormones uas lub cev xav tau, lossis nws yuav tsim me ntsis xwb.

Qee zaum, qhov mob no kuj hu ua `(Optic Nerve Hypoplasia)` lossis `(Septo-Optic Dysplasia - SOD)` lossis `(de Morsier Syndrome)`. Qhov no yog vim, raws li kev tshawb fawb tau pom, yuav luag txhua tus neeg uas muaj `(SOD)` muaj kev loj hlob ntawm cov hlab ntsha optic cuam tshuam. Txawm li cas los xij, tsuas yog ib feem pua ​​​​​​me me ntawm cov neeg uas muaj `(ONH)` (piv txwv li ntawm 5% thiab 10%) muaj kev loj hlob ntawm qhov nruab nrab ntawm lub hlwb (piv txwv li, `(Septum Pellucidum)`).

Tus mob no feem ntau tshwm sim li cas?

Raws li kev kwv yees hauv cov tebchaws zoo li Tebchaws Meskas, ib tug ntawm 10,000 tus menyuam yausLawv hais tias tus mob no '(Optic Nerve Hypoplasia)' tuaj yeem cuam tshuam rau kwv yees li 100,000 tus neeg. Tsis tas li ntawd, tus mob no tau raug txheeb xyuas tias yog qhov ua rau pom kev tsis meej ntawm cov menyuam yaus hnub nyoog qis dua 3 xyoos. Kuj tseem muaj cov menyuam zoo li no hauv Sri Lanka.

Puas yog Optic Nerve Hypoplasia yog ib qho mob hnyav?

Yog, qhov no yog ib qho mob hnyav, thiab nws tuaj yeem ua rau mob hnyav rau qee lub sijhawm. Tab sis cov teebmeem sib txawv ntawm ib tus neeg mus rau ib tus neeg. Ib txhia menyuam yaus yuav muaj teeb meem pom kev loj heev. Tsis tas li ntawd, yog tias lub qog pituitary raug cuam tshuam, nws tuaj yeem cuam tshuam rau lub cev cov tshuaj hormones. Qee qhov teeb meem ntsig txog cov tshuaj hormones tuaj yeem ua rau tuag taus. Yog li ntawd, yog tias koj xav tias koj tus menyuam muaj cov tsos mob no, lossis yog tias koj pom muaj kev hloov pauv hauv lawv tus cwj pwm, nws yog ib qho tseem ceeb heev uas yuav tsum mus ntsib kws kho mob tam sim ntawd, tshwj xeeb tshaj yog kws kho menyuam yaus lossis kws kho qhov muag.

Cov tsos mob ntawm Optic Nerve Hypoplasia yog dab tsi?

Cov tsos mob uas pom hauv tus mob no tsuas yog cuam tshuam rau ib lub qhov muag lossis ob lub qhov muag xwb.

Cov tsos mob uas pom tau ntsig txog qhov muag:

• Kev Pom Kev Tsis Zoo: Qhov no tuaj yeem suav nrog kev pom kev me ntsis mus txog rau qhov tsis pom kev tag nrho (Kev Pom Kev Tsis Zoo lossis Kev Dig Muag Hnyav).
• Nystagmus: Kev txav mus los sai sai ntawm lub qhov muag los ntawm ib sab mus rau ib sab lossis nce thiab nqis, zoo ib yam li tes thib ob ntawm lub moos, tab sis nrawm dua.
• Strabismus (qhov muag sib tshuam) lossis Esotropia (qhov muag uas tsis taw tes rau tib qho kev taw qhia): Ib lub qhov muag yuav saib ncaj nraim mus tom ntej thaum lwm lub qhov muag yuav tig mus rau sab nraud.
• Nyuaj rau kev tsom ntsoov rau ib yam khoom: Thaum raug hais kom saib ib yam dab tsi, xws li ib yam khoom ua si, tus neeg ntawd yuav tsis muaj peev xwm tsom ntsoov rau nws kom zoo.

Cov tsos mob uas yuav tshwm sim vim muaj qhov tsis zoo ntawm kev loj hlob ntawm lub hlwb:

• Teeb Meem Kev Loj Hlob ntawm Lub Siab (`(Kev Xiam Oob Qhab ntawm Lub Siab)`): Tej yam xws li teeb meem kev kawm, lub peev xwm ntawm lub siab tsis loj hlob raws li lub hnub nyoog.
• Qaug dab peg: Tsis nco qab thiab qaug dab peg tam sim ntawd.

Cov tsos mob ntsig txog cov tshuaj hormones uas yuav tshwm sim vim yog kev loj hlob ntawm lub qog pituitary txo qis:

Qhov no tseem ceeb heev, vim tias cov tshuaj hormones tswj ntau yam hauv peb lub cev.

• Nyuaj tswj lub cev ua haujlwm: Piv txwv li, tsis muaj peev xwm tswj kev tshaib kev nqhis, kev pw tsaug zog tsis zoo, tsis muaj peev xwm tswj lub cev kub kom zoo.
• Kev Qaug zog: Tsis muaj qhov siab tsim nyog rau lub hnub nyoog, ua rau luv dua li lwm tus menyuam.
• Hypothyroidism: Qhov no kuj cuam tshuam rau ntau yam txheej txheem hauv lub cev.
• Kev laus zuj zus qeeb.
• Cov ntshav qab zib qis (Hypoglycemia): Qhov no tuaj yeem ua rau muaj kev phom sij.
• Ib yam mob uas zoo li mob ntshav qab zib tab sis tsis muaj feem cuam tshuam nrog qab zib, ua rau tso zis ntau dhau thiab nqhis dej ('(Diabetes Insipidus)').
• Jaundice: Tawv nqaij thiab qhov muag daj, tshwj xeeb tshaj yog rau cov menyuam mos.

Xav txog koj tus ntxhais me me tab tom sim saib ib yam khoom ua si, tab sis nws ob lub qhov muag zoo li tsis tsom ntsoov zoo, lossis nws tsuas yog tshee hnyo xwb. Los yog nws pheej ntuav tas li, zoo li txias, thiab tsis kam haus mis kom zoo. Yog tias koj pom ib yam dab tsi zoo li no, koj yuav tsum mus ntsib kws kho mob tam sim ntawd.

Puas yog Optic Nerve Hypoplasia ua rau dig muag tag nrho?

Muaj tej lub sij hawm, yog. Qhov mob no ua rau pom kev tsis meej heev lossis dig muag tag nrho . Ntawm qhov tod tes, qee tus menyuam tsuas muaj teeb meem pom kev me me xwb. Qee lub sij hawm, thaum tus menyuam loj hlob tuaj, qee cov tsos mob no (xws li nystagmus) yuav txo qis. Koj tus kws kho mob yuav qhia tau rau koj tias qhov mob no yuav cuam tshuam li cas rau koj tus menyuam.

Cov laj thawj rau qhov xwm txheej no yog dab tsi?

Cov kws tshawb nrhiav tseem tsis tau paub meej tias yog dab tsi ua rau muaj Optic Nerve Hypoplasia. Txawm li cas los xij, nws xav tias yog los ntawm kev sib xyaw ua ke ntawm ib puag ncig thiab caj ces. Piv txwv li, tus mob no yuav txuas nrog fetal alcohol syndrome (FAS), uas yog los ntawm leej niam haus cawv thaum cev xeeb tub.

Txawm hais tias tsis tuaj yeem nrhiav tau qhov ua rau muaj kev hloov pauv caj ces, qee zaum kev hloov pauv caj ces (`(Mutations)`) tuaj yeem cuam tshuam rau qhov no. Cov kev hloov pauv caj ces no yog los ntawm niam txiv los ua `(Autosomal Recessive)`, uas txhais tau tias tus menyuam tsuas tuaj yeem muaj tus mob no yog tias tus menyuam tau txais cov noob hloov pauv no los ntawm niam thiab txiv. Qee cov noob uas yuav muaj yog:

• `(HESX1)`
• `(SOX2)`
• `(SOX3)`
• `(OTX2)`
• `(PROKR2)`
• Lwm cov noob caj noob ces uas tseem tsis tau txheeb xyuas.

Cov yam ua rau muaj kev pheej hmoo ntawm Optic Nerve Hypoplasia yog dab tsi?

Muaj qee yam uas ua rau muaj tus mob no. Cov no yog cov yam uas feem ntau cuam tshuam rau leej niam thaum cev xeeb tub:

• Niam hnub nyoog qis dua 19 xyoo.
• Cev xeeb tub thawj zaug.
• Ib tug neeg hauv tsev neeg (tsev neeg keeb kwm) tau muaj tus mob no ua ntej lawm.

Yog koj tab tom pib tsev neeg lossis yuav muaj ib tug menyuam ntxiv, nws yog ib qho tseem ceeb heev uas koj yuav tsum mus ntsib kws kho mob ua ntej yug menyuam tas li. Qhov no yuav pab koj tswj kev noj qab haus huv ntawm koj thiab koj tus menyuam hauv plab.

Cov teeb meem ntawm tus mob no yog dab tsi?

Cov teeb meem ntawm cov hlab ntsha optic hypoplasia sib txawv nyob ntawm seb qhov twg ntawm lub hlwb raug cuam tshuam. Qee qhov teeb meem yuav suav nrog:

• Tsis muaj peev xwm tswj tau qhov kub ntawm lub cev.
• Kev tshaib plab thiab nqhis dej ntau dhau ('(Hyperphagia)') thiab yog li ntawd rog dhau ('(Obesity)').
• Tsis xav noj mov los yog tsis kam noj mov ('(Hypophagia)').
• Kev tsis sib xws hauv lub voj voog pw tsaug zog thiab sawv.
• Kev loj hlob qeeb: Qhov no txhais tau tias qeeb hauv kev txawj txav (xws li kev taug kev thiab kev nkag) thiab kev txawj sib txuas lus (xws li kev txawj sib txuas lus).
• Kev Mob Autism Spectrum (ASD).

Qee qhov teeb meem no, tshwj xeeb tshaj yog teeb meem nrog kev tswj qhov kub thiab txias ntawm lub cev thiab kev pub mis, tuaj yeem ua rau tuag taus, yog li yuav tsum tau ceev faj heev.

Yuav kuaj mob Optic Nerve Hypoplasia li cas?

Feem ntau tus kws kho qhov muag yuav kuaj pom tus mob no tom qab kuaj qhov muag thiab kuaj lwm yam. Feem ntau, thawj qhov cim ntawm qhov no yog qhov muag txav tsis zoo. Qhov cim no tuaj yeem pom tau hauv ob peb lub hlis thawj zaug ntawm tus menyuam yug los. Txawm li cas los xij, qee zaum nws yuav tsis pom tseeb kom txog thaum tus menyuam muaj hnub nyoog kawm ntawv lossis hluas.

ONH tuaj yeem tshwm sim nws tus kheej xwb, txhais tau tias nws tsis cuam tshuam rau lwm qhov ntawm lub hlwb. Los yog, ntxiv rau cov hlab ntsha pom, nws tuaj yeem kuaj pom tias muaj ib lossis ntau qhov teeb meem kev loj hlob hauv lub hlwb nruab nrab thiab lub qog pituitary.

Yuav kom paub tseeb tias kuaj tau tus mob, tus kws kho mob yuav kom kuaj duab xws li MRI (Magnetic Resonance Imaging) scan los yog CT scan (Computed Tomography scan). Cov scans no pab tus kws kho mob kom paub zoo dua txog seb koj tus menyuam lub hlwb loj hlob li cas.

Tsis tas li ntawd xwb, tej zaum yuav muaj ntau yam kev kuaj ntshav . Cov no yog ua los tshem tawm lwm yam mob uas muaj cov tsos mob zoo sib xws. Piv txwv li, tej zaum yuav kuaj xyuas cov cortisol hauv cov ntshav thiab cov tshuaj hormones loj hlob. Tej zaum cov no yuav txawv txav hauv ONH.

Puas kho tau Optic Nerve Hypoplasia?

Tu siab kawg li, tam sim no tsis muaj tshuaj kho tau tus mob no. Vim nws yog ib yam mob uas muaj txij thaum yug los, nws thiaj li kho tsis tau lossis kho tsis tau.

Yog li koj yuav kho qhov no li cas?

Kev kho mob yog tsom mus rau kev tswj cov tsos mob ntawm tus menyuam thiab muab kev pab rau lawv. Qhov no yuav txawv ntawm ib tus neeg mus rau ib tus neeg. Cov kev kho mob tseem ceeb yog:

• Kev Kho Mob Qhov Muag:Siv cov khoom siv uas pab daws teeb meem pom kev, xws li cov tsom iav tshwj xeeb thiab cov iav tsom iav loj ('cov khoom pab pom kev tsis pom kev'), los pab tus menyuam ua tej haujlwm txhua hnub.
• Kev Kho Mob Hloov Tshuaj Hormone: Yog tias muaj cov tshuaj hormones tsis txaus vim muaj teeb meem nrog lub qog pituitary, cov tshuaj hormones raug muab rau sab nraud. Muaj cov tshuaj tshwj xeeb rau qhov no.
• Kev Kho Mob Lub Cev, Kev Kho Mob Ua Haujlwm, thiab/lossis Kev Kho Mob Hais Lus: Cov kev kho mob no pab txhim kho tus menyuam txoj kev loj hlob ntawm lub cev, muaj peev xwm ua haujlwm txhua hnub ntawm nws tus kheej, thiab kev txawj hais lus.

Tus kws kho mob yuav txiav txim siab seb hom kev kho mob twg zoo tshaj plaws rau koj tus menyuam thiab tsim ib txoj kev npaj kho mob raws li qhov tsim nyog. Nyob ntawm koj tus menyuam cov tsos mob lwm yam, tej zaum yuav xav tau lwm yam kev kho mob tshwj xeeb.

Yog koj xav tau muab tshuaj rau koj tus menyuam, nug koj tus kws kho mob kom zoo zoo txog thaum twg yuav tsum muab tshuaj, ntau npaum li cas, yuav tsum muab li cas, thiab yuav tsum paub txog cov kev mob tshwm sim twg.

Yog muaj qhov xwm txheej no, tus menyuam lub neej yav tom ntej yuav zoo li cas?

Cov teebmeem ntawm Optic Nerve Hypoplasia sib txawv ntawm ib tus neeg mus rau ib tus neeg. Qee cov tsos mob yuav pom thaum yau, thaum lwm tus yuav tshwm sim thaum yau lossis thaum hluas. Qhov xov xwm zoo yog tias qhov mob no tsis loj hlob tuaj. Qhov no txhais tau tias qhov mob tsis hnyav zuj zus tuaj . Qee cov tsos mob, xws li nystagmus, tej zaum yuav zoo dua thaum laus.

Cov menyuam yaus uas muaj ONH xav tau kev saib xyuas thiab kev saib xyuas mus sij hawm ntev los ntawm cov niam txiv, cov neeg saib xyuas, thiab cov kws kho mob. Lawv yuav tsum tau saib xyuas tsis tu ncua kom paub tseeb tias lawv txoj kev noj qab haus huv zoo. Lawv yuav tsum tau kuaj qhov muag tsawg kawg ib xyoos ib zaug thiab mus ntsib lwm tus kws tshwj xeeb raws li qhov xav tau.

Txawm hais tias cov teeb meem loj heev nrog rau lub qog pituitary tuaj yeem ua rau tuag taus, cov txiaj ntsig zoo tshaj plaws tuaj yeem ua tiav yog tias tus kab mob raug kuaj pom thiab kho thaum ntxov.

Puas tiv thaiv tau tus kab mob Optic Nerve Hypoplasia?

Tam sim no tseem tsis tau muaj ib txoj kev twg los tiv thaiv tus mob no. Yog tias koj npaj yuav cev xeeb tub, nws yog ib lub tswv yim zoo kom mus ntsib tus kws pab tswv yim txog noob caj noob ces lossis tus kws saib xyuas kev xeeb tub kom paub ntau ntxiv txog koj cov yam ntxwv uas ua rau muaj kev pheej hmoo thiab yuav ua li cas kom noj qab nyob zoo.

Kuv yuav tsum mus ntsib kws kho mob thaum twg?

Yog tias koj tus menyuam lub qhov muag tsis ntsia koj zoo, tsis sib luag, lossis txav mus rau hauv txoj kev txawv txawv , mus ntsib kws kho mob tam sim ntawd. Tsis tas li ntawd, qhia rau koj tus kws kho mob yog tias koj tus menyuam tsis tau ncav cuag cov theem tseem ceeb ntawm kev loj hlob (piv txwv li, nkag, nkag, lossis ncav tes mus rau cov khoom) uas tsim nyog rau lawv lub hnub nyoog.

Yog koj tus menyuam muaj qaug dab peg, hu rau 911 tam sim ntawd lossis coj lawv mus rau chav kho mob ceev hauv tsev kho mob ze tshaj plaws.

Kuv yuav tsum nug tus kws kho mob li cas?

Koj tuaj yeem nug koj tus kws kho mob cov lus nug zoo li no:

• Kuv yuav pab kuv tus menyuam tswj nws cov tsos mob li cas?
• Kuv yuav tsum ua li cas yog tias kuv pom tias kuv tus menyuam tsis muaj cov theem tseem ceeb ntawm kev loj hlob?
• Puas yog kuv tus menyuam xav tau tsom iav lossis lwm yam khoom pab kom pom kev?
• Tus mob '(ONH)' yuav cuam tshuam li cas rau kuv tus menyuam thaum nws pib kawm ntawv?
• Kuv tus menyuam yuav tsum tau kuaj qhov muag ntau npaum li cas?

Thaum kawg, tej yam uas yuav tsum nco ntsoov

Ua ib tug niam txiv, nws yog ib qho ib txwm muaj uas yuav xav tsis thoob thiab ntshai thaum koj tus menyuam lub qhov muag tsis pom kev thiab tsis saib koj zoo. Ib qho mob hu ua Optic Nerve Hypoplasia tuaj yeem cuam tshuam rau koj tus menyuam lub peev xwm pom koj kom meej. Nws kuj tseem tuaj yeem cuam tshuam rau lwm qhov ntawm lub hlwb uas pab nrog cov haujlwm tseem ceeb xws li kev tsim cov tshuaj hormones thiab kev loj hlob ntawm lub cev.

Tiam sis nco ntsoov, koj tsis yog tib tug xwb. Tus kws kho mob tuaj yeem kuaj koj tus menyuam, kuaj mob, thiab muab txoj kev npaj kho mob uas haum rau lawv cov tsos mob tshwj xeeb.

Nws yog ib qho ib txwm rau cov menyuam yaus xav tau kev pab ntau dua me ntsis ntawm tsev kawm ntawv dua li lwm tus menyuam, tshwj xeeb tshaj yog tias lawv siv sijhawm ntev dua me ntsis los loj hlob dua li lwm tus. Yog tias koj pom muaj cov tsos mob txhawj xeeb uas cuam tshuam rau koj tus menyuam txoj kev loj hlob lossis kev txhim kho, tsis txhob yig qhia rau koj tus kws kho mob. Pab pawg kho mob ntawm koj tus menyuam yeej ib txwm npaj txhij los teb cov lus nug uas koj muaj. Nrog kev ua siab loj, koj tuaj yeem muab kev saib xyuas zoo tshaj plaws rau koj tus menyuam uas lawv xav tau.

Kev puas tsuaj ntawm cov hlab ntsha optic , septo-optic dysplasia, kev dig muag txij thaum yug los, kev tsis pom kev zoo, pituitary gland, kev loj hlob ntawm menyuam yaus, nystagmus