Koj lub qhov muag puas maj mam ploj zuj zus lawm? Cia peb kawm txog qhov '(Cone-Rod Dystrophy)' no!

Koj lossis ib tug neeg uas koj paub, tshwj xeeb tshaj yog txij li thaum yau, puas tau muaj kev hloov pauv hauv koj qhov kev pom kev, xws li pom kev tsis meej, lossis rhiab rau lub teeb? Lossis koj puas pom tias nws nyuaj rau paub qhov txawv ntawm cov xim? Qee zaum cov no tuaj yeem yooj yim. Hnub no peb yuav tham txog ib qho kab mob qhov muag tsis tshua muaj uas xav tau kev saib xyuas me ntsis, tab sis ntau tus neeg tsis paub txog. Qhov no hu ua '(Cone-Rod Dystrophy)' lossis '(CRD)'.

Kab mob Cone-Rod Dystrophy yog dab tsi?

Hais yooj yim xwb, '(Cone-Rod Dystrophy)' yog ib yam kab mob uas cuam tshuam rau ib feem ntawm lub retina hauv peb lub qhov muag. Qhov uas tshwm sim hauv qhov no yog tias peb lub zeem muag maj mam, uas yog, me ntsis zuj zus, qaug zog. Qee zaum, qhov no tuaj yeem ua rau tsis pom kev tag nrho thiab txawm tias dig muag . Qhov no yog qhov tseeb tu siab.

Qhov ua rau qhov muag tsis pom kev no yog vim muaj kev puas tsuaj rau ob hom hlwb uas rhiab rau lub teeb hauv peb lub retina, hu ua cones thiab rods . Yog hais kom meej, cov hlwb no maj mam tuag. Lo lus "Dystrophy" hauv "Cone-Rod Dystrophy" txhais tau tias cov hlwb no maj mam lwj.

Xav txog seb, yog tias peb lub qhov muag zoo li lub koob yees duab, cov qe ntshav cone "(Cones)" thiab cov qe ntshav rod "(Rods)" zoo li cov me me ntawm "(zaj duab xis)" ntawm lub koob yees duab ntawd. Lawv yog cov uas ntes lub teeb, paub xim, tsim cov duab, thiab xa mus rau peb lub hlwb.

• Cov qe ntshav dawb (cones): Cov no yog cov qe ntshav dawb uas pab peb pom cov xim , thiab lawv kuj muab kev pom tseeb thiab meej (tshwj xeeb tshaj yog thaum peb saib ncaj qha mus rau pem hauv ntej) .
• Cov pas nrig: Cov no pab peb pom kev hauv qhov tsaus ntuj thiab hauv qhov pom kev sab nraud, uas yog, tej yam uas tsis nyob ncaj qha rau peb pem hauv ntej .

Hauv CRD, cov hlwb cone feem ntau yog thawj qhov uas raug puas tsuaj, tab sis qee zaum ob hom hlwb tuaj yeem raug puas tsuaj tib lub sijhawm.

Tus mob no, hu ua "(CRD), yog ib yam mob tsis tshua muaj , txhais tau tias nws tsis yog ib yam kab mob uas cuam tshuam rau txhua tus. Tsis tas li ntawd, nws feem ntau yog los ntawm noob caj noob ces , txhais tau tias nws yog ib yam dab tsi uas tau kis los ntawm ib tiam neeg mus rau ib tiam neeg. Tus kab mob no feem ntau pib thaum yau lossis thaum laus .

Koj puas paub cov tsos mob ntawm qhov no yog dab tsi?

Txawm hais tias cov tsos mob ntawm CRD yuav txawv me ntsis ntawm ib tus neeg mus rau ib tus neeg los xij, muaj qee cov tsos mob uas pom tau. Cov no feem ntau yuav nce ntxiv raws sijhawm.

• Qhov tsis muaj zog hauv nruab nrab ntawm lub qhov muag: Qhov no feem ntau yog thawj cov tsos mob uas yuav pom. Feem ntau nws pib thaum yau. Yog hais kom meej, zoo li qhov pom ncaj qha tsis meej.
• Kev ntshai duab: Kev xav tias lub teeb ci ntsa iab heev: Nws nyuaj rau pom thaum lub hnub lossis teeb tsis nyob, zoo li lub qhov muag tig xiav.
• Qhov nyuaj cais cov xim: Raws li lub sijhawm dhau mus, cov xim yuav tsis pom tseeb thiab tej zaum yuav ua rau dig muag xim tag nrho .
• Kev dig muag hmo ntuj (Nyctalopia): Kev pom kev tsis zoo thaum hmo ntuj hauv cov chaw tsaus ntuj.
• Kev poob qhov muag pom kev: Tsis yog tsuas yog qhov muag pom kev ncaj nraim pem hauv ntej maj mam txo qis xwb, tab sis qhov koj pom ntawm sab ntawm koj lub qhov muag kuj maj mam txo qis.
• Tsis pom kev kiag li (dig muag): Qhov no yog theem hnyav tshaj plaws ntawm tus kab mob.

Cov tsos mob no tsis yog tshwm sim sai sai. Lawv maj mam tshwm sim. Yog li ntawd, qee zaum, thaum xub thawj, koj yuav xav tias nws tsis yog teeb meem loj.

Vim li cas qhov no thiaj tshwm sim? Yog vim li cas?

Raws li peb tau hais ua ntej lawm, '(CRD)' feem ntau yog ib qho kab mob caj ces . Qhov ntawd yog, nws yog tshwm sim los ntawm qee qhov kev hloov pauv (kev hloov pauv) uas tshwm sim hauv peb '(DNA)' . Xav txog nws, '(DNA)' yog daim ntawv qhia rau peb lub cev. Yog tias muaj qhov yuam kev me me hauv daim ntawv qhia ntawd, nws tuaj yeem ua rau muaj cov xwm txheej zoo li no.

Kev tshawb fawb pom tau tias muaj tsawg kawg yog 28 qhov kev hloov pauv caj ces sib txawv uas tuaj yeem ua rau muaj qhov '(CRD)' no. Muaj ntau txoj hauv kev uas peb tuaj yeem tau txais cov kev hloov pauv no:

• `(Autosomal dominant)`: Hauv qhov no, tus kab mob tuaj yeem tshwm sim txawm tias cov noob caj noob ces tsis zoo tau txais los ntawm ib leej niam los yog leej txiv xwb , tsis hais leej niam los yog leej txiv.
• `(Autosomal recessive)`: Hauv txoj kev no, tus kab mob tsuas yog tshwm sim yog tias cov noob caj noob ces tsis zoo tau txais los ntawm ob leeg niam txiv . Yog tias nws los ntawm ib tug niam txiv xwb, tus neeg ntawd yuav yog tus nqa tus kab mob, tab sis yuav tsis qhia cov tsos mob.
• `(X-linked)`: Qhov no yog tshwm sim los ntawm ib tug gene txuas nrog rau X chromosome. Qhov kev pheej hmoo nyob ntawm seb niam txiv twg muaj tus gene tsis zoo.

Plaub qhov kev hloov pauv caj ces uas yuav ua rau muaj Cone-Rod Dystrophy yog:

• `(ABCA4)`
• `(CRX)`
• `(GUCY2D)`
• `(RPGR)`

Txawm hais tias cov no nyuaj me ntsis rau kev kho mob, cov noob caj noob ces no yog cov uas pab cov qe ntshav dawb thiab cov qe ntshav dawb hauv peb lub qhov muag ua haujlwm kom zoo. Yog li thaum muaj teeb meem nrog cov noob caj noob ces no, kev ua haujlwm ntawm cov qe ntshav dawb ntawd yuav raug cuam tshuam.

Koj kuaj mob no li cas kom meej? (Kev kuaj mob)

Yog koj lossis koj tus menyuam muaj cov tsos mob no, koj yuav tsum mus ntsib kws kho qhov muag . Nws tuaj yeem qhia koj paub tseeb tias qhov no yog CRD lossis lwm yam kab mob qhov muag.

Nws siv ntau txoj kev los kuaj mob:

1. Nug txog koj keeb kwm kev mob thiab cov tsos mob: tej yam xws li kev hloov pauv hauv koj qhov muag pom kev thiab seb puas muaj leej twg hauv koj tsev neeg muaj teeb meem zoo sib xws.

2. Yuav kuaj qhov muag tag nrho: Qhov no yuav suav nrog ntau yam kev kuaj.

• Kev ntsuam xyuas qhov muag pom kev:Cia tib neeg nyeem cov ntawv thiab pom tias lawv pom deb npaum li cas.
• Kev ntsuam xyuas pom xim: Xyuas seb koj puas paub qhov txawv ntawm cov xim kom raug.
• Kev kuaj lub teeb me me: Saib sab hauv lub qhov muag nrog lub cuab yeej tsom iav tshwj xeeb.

Txawm hais tias cov kev kuaj no tseem ceeb, qhov kev kuaj tseem ceeb thiab tshwj xeeb tshaj plaws los lees paub qhov mob Cone-Rod Dystrophy yog Electroretinography. Qhov no yog ib qho kev kuaj tshwj xeeb. Nws ncaj qha ntsuas qhov ua haujlwm hluav taws xob ntawm lub retina. Yog tias muaj CRD, qhov kev kuaj no tuaj yeem txheeb xyuas cov qauv tshwj xeeb ntawm kev ua haujlwm (lossis tsis muaj kev ua haujlwm).

Ntxiv mus, koj tus kws kho qhov muag yuav pom zoo kom kuaj cov noob caj noob ces . Qhov no yog los saib seb koj puas muaj kev hloov pauv noob caj noob ces uas paub tias ua rau muaj CRD. Qhov no tseem ceeb heev yog tias ib tug neeg hauv koj tsev neeg (niam, txiv, kwv tij neej tsa, menyuam) muaj CRD, lossis yog tias koj muaj kev pheej hmoo kis tus kab mob mus rau koj cov menyuam.

Yuav kho qhov no li cas? Puas kho tau?

Auj, qhov tseeb, tam sim no tsis muaj tshuaj kho tau tus kab mob "(Cone-Rod Dystrophy)". Qhov no yog qhov tu siab tshaj plaws.

Txawm li cas los xij, tsis tas yuav tsum tso tseg kev cia siab kiag li. Txoj hauv kev tam sim no yog kom qeeb qeeb qhov kev loj hlob ntawm tus kab mob thiab kho txhua yam tsos mob thiab teeb meem uas tshwm sim. Koj tus kws kho qhov muag tuaj yeem pab nrog qhov no. Qhov no yuav suav nrog:

• Kev Tiv Thaiv Lub Teeb: Siv cov tsom iav dub, cov tsom iav uas muaj xim, lossis cov iav sib cuag tuaj yeem pab txo qhov kev pheej hmoo ntawm kev puas tsuaj ntawm cov hlwb retinal los ntawm kev raug lub teeb.
• Kev kho qhov muag pom kev: Thaum pib muaj tus kab mob, tsom iav tuaj yeem pab txo qhov muag pom kev tsis zoo.
• Cov khoom siv pab rau cov neeg uas tsis pom kev zoo: Cov no yog cov khoom siv uas pab cov neeg uas tsis pom kev zoo ua tej haujlwm txhua hnub. Lawv muaj txij li cov tsom iav yooj yim mus txog rau cov khoom siv thev naus laus zis siab xws li cov kev pab cuam nyeem ntawv hauv computer.
• Kev kho qhov muag pom kev: Qhov no yog ib hom kev cob qhia tshwj xeeb uas qhia koj yuav ua li cas thiaj daws tau thiab ua tau tej haujlwm txhua hnub uas muaj kev poob qhov muag.
• Cov tshuaj noj qab haus huv: Muaj kev ntseeg tias qee cov vitamins thiab minerals (micronutrients) tuaj yeem ua rau qeeb qeeb ntawm CRD. Txawm li cas los xij, cov no tsuas yog yuav tsum tau noj raws li kev qhia ntawm kws kho mob . Koj tus kws kho qhov muag yuav qhia rau koj tias cov twg zoo thiab cov twg phem.
• Kev txhawb nqa kev noj qab haus huv ntawm lub hlwb:Kev tsis pom kev zoo tuaj yeem ua rau koj ntxhov siab thiab ntshai heev. Muaj ntau tus neeg uas muaj CRD tuaj yeem muaj cov tsos mob xws li kev ntxhov siab lossis kev nyuaj siab. Yog li ntawd, kev nrhiav kev pab tswv yim thiab kev txhawb nqa los ntawm kev puas siab puas ntsws tuaj yeem pab tau zoo heev rau kev daws cov kev xav no thiab daws lawv.

Puas yuav muaj kev kho mob tshiab yav tom ntej? (Kev Tshawb Fawb)

Cov kws tshawb nrhiav tab tom tshawb nrhiav seb puas siv tau cov kev kho mob gene los kho tus kab mob Cone-Rod Dystrophy. Uas yog, cov txheej txheem uas tuaj yeem kho cov gene tsis zoo uas peb tau tham txog.

Txawm li cas los xij, cov kev kho mob no tseem nyob rau theem pib ntawm txoj kev tshawb fawb . Qhov no txhais tau tias nws yuav siv sijhawm tsawg kawg yog ob peb xyoos ntxiv ua ntej peb thiaj li tau txais cov kev kho mob no. Tsis tas li ntawd, lawv tsuas yog yuav raug tso tawm yog tias cov kev tshawb fawb ntawd lees paub tias cov kev kho mob no muaj kev nyab xeeb thiab ua tau zoo .

Yog li, thaum nws nyuaj rau muaj kev cia siab rau cov kev kho mob no lub sijhawm no, nws yog ib qho tseem ceeb uas yuav tsum nco ntsoov tias cov no yuav muab qee qhov kev pab rau cov neeg uas muaj CRD yav tom ntej .

Ib tug neeg uas muaj tus kab mob cone-rod dystrophy (CRD) muaj teeb meem dab tsi?

Feem ntau cov teeb meem ntawm CRD pib thaum yau . Cov menyuam yaus uas muaj CRD yuav muaj teeb meem pom kev ua ntej hnub nyoog 10 xyoo. Yog li ntawd, qee zaum cov xib fwb hauv tsev kawm ntawv yog thawj tus pom kev hloov pauv ntawm tus menyuam txoj kev pom kev.

Feem ntau cov neeg uas muaj CRD tuaj yeem poob lawv qhov kev pom kev mus txog rau qhov uas raug cai dig muag thaum muaj hnub nyoog 20 xyoo. Txawm li cas los xij, rau qee tus neeg, vim tias tus kab mob no loj hlob qeeb dua lossis qhov puas tsuaj tsis hnyav heev, nws tuaj yeem siv sijhawm txog thaum lawv muaj hnub nyoog 30 lossis 40 xyoo kom txog rau theem no.

Qhov xwm txheej no yuav zoo li cas?

`(CRD)` tsis yog ib yam kab mob uas ua rau tuag taus . Qhov ntawd txhais tau tias nws tsis tua neeg. Txawm li cas los xij, nws yog ib yam kab mob uas ua rau muaj kev cuam tshuam loj heev rau lub neej thiab thaum kawg ua rau muaj kev tsis taus .

Tab sis koj tuaj yeem kawm ua neej nyob nrog kev poob qhov muag , tshwj xeeb tshaj yog nrog kev pab los ntawm cov kws kho mob, cov kev pabcuam txhawb nqa, thiab lwm yam kev pabcuam.

Qhov tseem ceeb tshaj plaws yog to taub tias koj tsis nyob ib leeg. Tsis txhob ntshai thov kev pab.

Puas muaj ib txoj kev los tiv thaiv qhov no?

Raws li peb tau hais ua ntej lawm, Cone-Rod Dystrophy yog ib yam kab mob uas feem ntau yog los ntawm kev hloov pauv caj ces . Yog li ntawd, raws li cov ntaub ntawv tam sim no, tsis muaj txoj hauv kev los tiv thaiv lossis txo qhov kev pheej hmoo ntawm kev mob CRD . Cov kws tshawb fawb tseem tab tom tshawb nrhiav seb puas muaj lwm yam ua rau lossis yam tseem ceeb uas ua rau muaj tus mob no.

Yog tias kuv muaj CRD, kuv yuav saib xyuas kuv tus kheej li cas?

Yog koj muaj mob '(CRD'), nws yog ib qho tseem ceeb heev uas koj yuav tsum mus ntsib koj tus kws kho qhov muag tsis tu ncua kom kuaj qhov muag.Ces nws tuaj yeem saib xyuas cov kev hloov pauv hauv koj ob lub qhov muag, kho koj txoj kev kho mob raws li qhov tsim nyog, thiab muab cov ntaub ntawv tshiab rau koj.

Koj tus kws kho qhov muag thiab lwm tus neeg muab kev pab kho mob tuaj yeem pab koj nyob nrog CRD. Lawv tuaj yeem pab koj hloov kho rau nws thiab npaj rau yav tom ntej. Lawv kuj tseem tuaj yeem qhia koj txog kev kho mob tshiab thiab muab cov ntaub ntawv rau koj.

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

Thaum koj mus ntsib kws kho mob, nws yuav pab tau rau koj nug cov lus nug zoo li no:

• Kuv qhov muag pom kev tau txo qis npaum li cas lawm?
• Tus kab mob "(CRD)" no yuav loj hlob li cas? Koj puas xav txog seb nws yuav siv sijhawm ntev npaum li cas?
• Puas yog kuv thiab kuv tsev neeg yuav tsum tau kuaj noob caj noob ces kom paub tseeb tias qhov kev hloov pauv DNA ua rau qhov no?
• Kuv ua tau dab tsi tam sim no kom qeeb qhov kev loj hlob ntawm tus kab mob?
• Puas muaj cov kev pab cuam lossis cov peev txheej uas kuv siv tau los pab kuv hloov kho rau cov kev hloov pauv tam sim no thiab npaj rau cov kev hloov pauv yav tom ntej?

Thaum koj tsis pom kev vim yog tus kab mob Cone-Rod Dystrophy, koj yuav xav tias koj nyob ib leeg thiab tsis muaj feem cuam tshuam nrog lub ntiaj teb thiab lwm tus. Nws yog ib qho ib txwm muaj uas koj yuav ntxhov siab thiab txhawj xeeb txog yam uas yuav hloov pauv yav tom ntej.

Txawm li cas los xij, qhov no tsis yog qhov xwm txheej uas koj yuav tsum ntsib ib leeg xwb . Koj tus kws kho qhov muag, lwm tus kws kho mob, thiab cov kws tshwj xeeb yuav muab kev saib xyuas, kev txhawb nqa, kev taw qhia, thiab cov peev txheej uas koj xav tau rau koj. Tsis txhob ntshai thov kev pab los ntawm lawv. Lawv yuav pab koj hloov kho thiab daws qhov teeb meem ntawm kev poob qhov muag.

Thaum kawg, cov lus coj mus tsev:

Kab mob Cone-Rod Dystrophy (CRD) yog ib yam kab mob qhov muag uas ua rau tuag taus uas cov hlwb hauv peb lub qhov muag hu ua cones thiab rods raug puas tsuaj, maj mam ua rau pom kev tsis meej. Feem ntau nws yog los ntawm noob caj noob ces thiab tuaj yeem pib thaum yau.

Txawm hais tias tam sim no tsis muaj kev kho mob los xij, muaj ntau txoj hauv kev los tswj cov tsos mob, qeeb qeeb qhov kev loj hlob ntawm tus kab mob, thiab pab koj nyob nrog kev poob qhov muag.

Yog koj lossis ib tug neeg koj paub muaj cov tsos mob no, mus ntsib kws kho qhov muag tam sim ntawd . Nws yog ib qho tseem ceeb heev uas yuav tsum tau kuaj mob thiab qhia kom meej.

Nco ntsoov tias, koj tsis nyob ib leeg xwb. Nrhiav kev txhawb nqa thiab kev pab uas koj xav tau. Kev ua siab zoo kuj tseem ceeb heev!

` cone-rod dystrophy, CRD, tsis pom kev, retina, cone cells, rod cells, cov kab mob caj ces, cov kab mob qhov muag