Koj tus menyuam lub qhov muag puas muaj qhov kev hloov pauv no? Cia peb kawm txog (Blepharophimosis Syndrome)!

Tej zaum koj yuav tau pom tias cov menyuam mos lub qhov muag me me nyob rau hauv ib txoj kev txawv txawv. Tej zaum qhov qhib ntawm lub qhov muag me me, lossis cov qhov muag zoo li poob qis. Pom ib yam dab tsi zoo li no tuaj yeem ua rau koj ntshai me ntsis ua ib leej niam. Thaum lub sijhawm zoo li no, nws yog ib qho tseem ceeb heev uas yuav tsum paub txog qhov mob no uas peb yuav tham txog, uas yog, Blepharophimosis Syndrome.

Kab mob Blepharophimosis yog dab tsi? Hais yooj yim xwb...

Qhov no yog ib qho mob caj ces uas cuam tshuam rau txoj kev uas koj lub qhov muag tsim. Xav txog nws, peb lub qhov muag yog qhov tseem ceeb tshaj plaws uas tiv thaiv lub qhov muag. Yog li, qhov qhib ntawm lub qhov muag ntawm ib tus neeg uas muaj tus kab mob no, uas yog, qhov sib txawv ntawm lub qhov muag, yog nqaim dua li ib tus neeg ib txwm. Tsis tas li ntawd, lub qhov muag sab saud zoo li lub qhov muag poob qis . Lwm yam yog tias ntawm sab hauv ntawm lub qhov muag, uas yog, ntawm sab qhov ntswg, koj tuaj yeem pom ib daim tawv nqaij me me los ntawm lub qhov muag qis mus rau lub qhov muag sab saud.

Qhov laj thawj rau qhov no yog kev hloov pauv hauv cov noob hu ua 'FOXL2', lossis raws li cov kws kho mob hu ua , kev hloov pauv . Lwm yam tseem ceeb yog tias cov zes qe menyuam ntawm cov poj niam uas muaj tus kab mob 'Blepharophimosis Syndrome' no kuj tuaj yeem raug cuam tshuam.

Muaj lwm lub npe ntev uas cov kws kho mob siv rau qhov no, uas yog 'Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome'. Nws kuj tseem hu ua 'BPES' luv. Ib txhia kuj hu nws ua "mob qhov muag qhib me me." Qhov no yog ib qho mob uas yug los , txhais tau tias tus menyuam tuaj yeem pom cov tsos mob no thaum yug los.

Lo lus "blepharophimosis" yog hais tias "bleph-a-ro-phi-mo-sis." Suab nyuaj me ntsis, puas yog? Tab sis tsis ua li cas, cia peb hais tias 'BPES' kom yooj yim xwb.

Puas muaj hom no? (Hom BPES)

Yog, muaj ob hom tseem ceeb ntawm cov 'BPES' no. Lawv yog Hom I thiab Hom II .

Muaj qee yam ntxwv zoo sib xws ntawm ob hom:

• Qhov muag qhib me dua li qub (blepharophimosis) .
• Qhov muag poob qis (ptosis) .
• Ob lub qhov muag teem sib nrug deb dua li qub (telecanthus) .
• Ib daim tawv nqaij uas quav rau sab hauv ntawm lub qhov muag qis, uas yog, mus rau lub qhov ntswg (epicanthus inversus) .

Tam sim no cia peb saib seb qhov txawv tshwj xeeb ntawm ob hom no yog dab tsi.

BPES Hom I

Yog koj muaj BPES hom I, nws tuaj yeem ua rau muaj mob hu ua Primary Ovarian Insufficiency (POI) . Ib txhia neeg kuj hu qhov no ua "premature ovarian failure." Hais yooj yim, nws yog thaum tus poj niam lub zes qe tsis ua haujlwm ua ntej lub sijhawm xav tau.

BPES Hom II (BPES Hom II)

Tab sis yog tias koj muaj BPES hom II, nws tsis ua rau muaj lwm yam teeb meem hauv koj lub cev, txhais tau tias muaj lwm yam teeb meem loj uas cuam tshuam rau tag nrho lub cev. Tsuas yog cov tsos mob uas feem ntau pom yog cov uas cuam tshuam rau qhov muag xwb.

Kab mob blepharophimosis syndrome no feem ntau tshwm sim li cas?

Thoob ntiaj teb, tus kab mob "Blepharophimosis Syndrome" no pom muaj li ntawm 1 tus ntawm 50,000 tus menyuam yug los . Qhov no txhais tau tias nws yog ib qho mob tsis tshua muaj.

Cov cim thiab tsos mob ntawm tus kab mob blepharophimosis yog dab tsi?

Cov tsos mob ntawm tus kab mob "Blepharophimosis Syndrome" no feem ntau cuam tshuam rau qhov tsos ntawm koj ob lub qhov muag. Nco ntsoov plaub yam tsos mob tseem ceeb uas peb tau tham txog ua ntej:

• Qhov muag me me qhib.
• Qhov muag poob qis ( Ptosis ).
• Qhov muag teeb dav dav (Telecanthus).
• Ib daim tawv nqaij uas quav rau ntawm sab hauv qab daim tawv muag (Sab hauv qab daim tawv muag uas quav rau - Epicanthus Inversus).

Xav txog seb, cov tsos mob no tuaj yeem hloov pauv qhov tsos ntawm tus menyuam lub ntsej muag me ntsis. Nws yog ib qho ib txwm rau cov niam txiv yuav txhawj xeeb thaum lawv pom qhov no. Tab sis tsis txhob txhawj, muaj tej yam uas tuaj yeem ua tau txog qhov no.

Ntxiv rau cov yam ntxwv tseem ceeb no, qee qhov lwm yam ntxwv tuaj yeem pom:

• Ectropion (qhov muag tig mus rau sab nraud).
• Strabismus, tseem hu ua "qhov muag hla ", yog ib qho mob uas lub qhov muag hla.
• Amblyopia , uas yog tshwm sim los ntawm lub qhov muag poob uas thaiv kev pom kev. Yog hais kom meej, lub qhov muag thaiv kev pom kev.
• Pob ntseg nqaim , tseem hu ua "cup ears" lossis "lop ears," txhais tau tias cov npoo ntawm pob ntseg yuav raug ntsws lossis tais.
• Pob ntseg qis.
• Choj dav ntawm lub qhov ntswg.
• Qhov sib txawv ntawm lub qhov ntswg thiab daim di ncauj sab saud me dua li qub.
• Cov neeg uas muaj hom I muaj qhov tsis txaus ntawm zes qe menyuam (POI).

Vim li cas qhov no thiaj tshwm sim? Dab tsi yog cov ua rau? (Dab tsi ua rau mob blepharophimosis syndrome?)

Qhov ua rau muaj tus kab mob "Blepharophimosis Syndrome" no yog vim muaj kev hloov pauv lossis kev hloov pauv hauv ib hom noob hu ua "FOXL2". Qhov no kis tau los ntawm cov noob hauv ib txoj kev autosomal dominant .

Hais yooj yim xwb, qhov no txhais tau tias txawm tias tsuas yog ib tug niam txiv muaj cov noob caj noob ces hloov pauv no (hloov pauv) los xij, tus menyuam tuaj yeem tau txais nws.Txawm li cas los xij, qee tus neeg tuaj yeem muaj tus mob no thawj zaug, txawm tias lawv tsis tau txais los ntawm lawv niam lawv txiv los xij. Hauv cov xwm txheej zoo li no, cov kws kho mob hais tias nws yog kev hloov pauv caj ces "tshiab" lossis tshiab, txhais tau tias nws tsis tau txais los ntawm niam txiv uas muaj tus mob.

Lwm yam teeb meem uas tuaj yeem tshwm sim vim qhov no (Dab tsi yog cov teeb meem ntawm blepharophimosis syndrome?)

Kab mob Blepharophimosis tuaj yeem cuam tshuam rau koj qhov muag pom kev . Koj muaj feem yuav muaj teeb meem ntawm kev pom kev tsis meej , uas tuaj yeem ua rau pom kev tsis meej thaum nyob deb lossis ze.

Tshwj xeeb, cov menyuam mos thiab cov menyuam yaus uas muaj mob ptosis hnyav (ib yam mob hu ua qhov muag lazy) tuaj yeem tsim tau ib yam mob hu ua amblyopia . Qhov no yog vim tias cov tawv muag thaiv lawv qhov pom kev, tiv thaiv lub hlwb kom tsis txhob tau txais cov teeb liab los ntawm lub qhov muag ntawd. Yog tias qhov no tsis kho sai, qhov muag pom kev hauv lub qhov muag ntawd tuaj yeem ua rau puas tsuaj mus tas li.

Yuav kuaj mob li cas? (Yuav kuaj mob blepharophimosis syndrome li cas?)

Koj tus kws kho mob yuav xav tias koj muaj Blepharophimosis Syndrome tom qab pom plaub yam tsos mob tseem ceeb uas peb tau tham ua ntej thiab kuaj qhov muag. Tus kws kho qhov muag tshwj xeeb yuav ua qee lossis tag nrho cov kev kuaj no:

• Kev kuaj qhov muag pom kev: Qhov no suav nrog kev thov kom koj nyeem cov ntawv ntawm daim ntawv qhia. Kev kuaj no tuaj yeem pab koj tus kws kho mob txiav txim siab seb koj puas muaj qhov yuam kev ntawm kev pom kev, xws li pom kev ze lossis pom kev deb.
• Kev kuaj mob rau qhov muag nkees (Amblyopia) thiab strabismus .
• Kev kuaj ntshav rau cov tshuaj hormones yug me nyuam (tshwj xeeb tshaj yog tias xav tias muaj hom I).
• Kev kuaj noob caj noob ces : Qhov no tuaj yeem lees paub seb puas muaj kev hloov pauv hauv 'FOXL2' gene.

Cov kev kho mob yog dab tsi? (Yuav kho tus mob blepharophimosis syndrome li cas?)

Feem ntau cov neeg uas muaj tus kab mob Blepharophimosis Syndrome no yuav tsum tau phais thaum lawv tseem yog menyuam yaus . Thaum muaj hnub nyoog 3 txog 5 xyoos, yuav tsum tau phais kom kho cov mob hu ua epicanthus inversus (qhov tawv nqaij sab hauv ntawm daim tawv muag quav) thiab telecanthus (qhov muag uas nyob deb heev). Tom qab ntawd, li ib xyoos tom qab, tus kws phais yuav tsum tau phais dua ib zaug ntxiv kom kho qhov tawv muag uas poob qis (ptosis). Qee zaum tag nrho cov kev phais no yuav tsum tau ua tib lub sijhawm, tab sis qhov no tsis tshua muaj.

Cov kev phais no tsis yog tsuas yog ua kom lub qhov muag zoo nkauj xwb, tab sis kuj pab kom tus menyuam pom kev zoo. Vim tias yog tias lub qhov muag raug kaw, qhov muag yuav tsis pom kev zoo.

Yog tias koj muaj BPES hom I, uas txhais tau tias Primary Ovarian Insufficiency, koj tus kws kho mob yuav qhia kom siv cov tshuaj hormones hloov , tshwj xeeb tshaj yog cov tshuaj estrogen. Txawm li cas los xij, nws yog ib qho tseem ceeb uas yuav tsum nco ntsoov tias cov kev kho mob no tsis daws teeb meem kev tsis muaj menyuam . Koj yuav tsum tham txog qhov no nrog tus kws kho mob tshwj xeeb txog kev noj qab haus huv ntawm kev yug me nyuam.

Puas muaj ib txoj kev los tiv thaiv qhov no kom tsis txhob tshwm sim? (Kuv yuav ua li cas thiaj txo tau kuv txoj kev pheej hmoo ntawm kev mob blepharophimosis syndrome?)

Tsis muaj ib txoj kev tshwj xeeb los tiv thaiv tus kab mob Blepharophimosis Syndrome, vim nws yog ib qho mob caj ces. Txawm li cas los xij, yog tias ib tug neeg hauv koj tsev neeg muaj tus kab mob no, nws yog ib lub tswv yim zoo los xav txog kev sab laj txog caj ces ua ntej koj muaj menyuam. Ua li no, koj tuaj yeem kawm paub ntau ntxiv txog nws thiab tham txog qhov kev pheej hmoo ntawm koj tus menyuam yuav tau txais nws.

Yog tias kuv muaj tus kab mob blepharophimosis syndrome, kuv yuav tsum tau tos li cas?

Yog koj muaj tus kab mob Blepharophimosis Syndrome, koj yuav tsum tau mus kuaj qhov muag tsis tu ncua . Qhov no tuaj yeem pab xyuas seb koj qhov muag puas noj qab nyob zoo thiab yog tias muaj lwm yam teeb meem.

Yog tias koj muaj hom I, koj yuav tsum tham nrog tus kws kho mob endocrinologist lossis tus kws kho mob tshwj xeeb txog kev noj qab haus huv ntawm cov poj niam thiab cov teeb meem txog kev xeeb tub.

Kab mob Blepharophimosis Syndrome kho tau, tab sis nws tsis tuaj yeem kho tau. Txawm hais tias kev phais mob tuaj yeem kho qhov muag kom zoo li qub thiab ua haujlwm tau qee yam, nws tsis tuaj yeem hloov pauv qhov ua rau muaj caj ces.

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

Nws yog ib lub tswv yim zoo los nug koj tus kws kho mob cov lus nug zoo li no:

• Kuv yuav tsum tau kuaj kuv ob lub qhov muag ntau npaum li cas?
• Koj puas pom zoo kom muaj kev sab laj txog noob caj noob ces?
• Koj muaj lus qhia dab tsi los daws cov teeb meem txog kev muaj menyuam?
• Yog muaj xwm txheej dab tsi koj yuav tsum mus rau chav kho mob ceev vim yog qhov mob no?

Qhov txawv ntawm Blepharophimosis intellectual disability syndrome thiab qhov no yog dab tsi?

Qhov no kuj ua rau kuv tsis meej pem me ntsis, yog li ntawd, nws zoo kom piav qhia meej. Cov neeg uas muaj mob hu ua 'Blepharophimosis intellectual disability syndromes' kuj tuaj yeem pom cov qhov muag poob qis thiab me dua li qhov qhib qhov muag ib txwm muaj. Txawm li cas los xij, lawv tsis pom 'telecanthus' (qhov muag teeb tsa deb) lossis 'epicanthus inversus' (cov tawv nqaij sab hauv).

Qhov tseem ceeb tshaj plaws yog tias cov neeg uas muaj 'Blepharophimosis intellectual disability syndromes' muaj kev loj hlob qeeb dua ntawm lub hlwb.Piv txwv li no suav nrog cov mob hu ua 'Ohdo syndrome' thiab 'Say-Barber-Biesecker-Young-Simpson syndrome.' Cov kws tshawb fawb kwv yees tias muaj tsawg dua 1,000 tus neeg hauv Tebchaws Meskas uas muaj cov tsos mob tsis taus ntawm kev txawj ntse no.

Txawm li cas los xij, cov neeg uas muaj tus kab mob "Blepharophimosis Syndrome (BPES)" uas peb tab tom tham txog tsis muaj kev tsis taus ntawm lub hlwb. Qhov no yog qhov sib txawv tseem ceeb.

Kab mob Blepharophimosis Syndrome, lossis BPES, yog ib yam mob tsis tshua muaj uas muaj thaum yug los. Koj thiab koj pab neeg kho mob tuaj yeem tswj tau qhov mob no zoo. Kev phais kom kho cov teeb meem ntawm lub qhov muag feem ntau yog ib feem ntawm txoj kev npaj kho mob.

Cov Lus Qhia Txog Kev Coj Mus Tsev

Zoo, yog li ntawd, los ntawm qhov peb tau tham txog, kuv vam tias koj muaj lub tswv yim zoo txog 'Blepharophimosis Syndrome'. Nco ntsoov:

• Qhov no yog ib qho mob caj ces , feem ntau cuam tshuam rau qhov muag.
• Cov tsos mob tseem ceeb yog qhov muag qhib me me, qhov muag poob qis, qhov muag deb, thiab daim tawv nqaij nyob sab hauv.
• Muaj ob hom (Hom I) thiab Hom II . Hauv hom I, cov zes qe menyuam kuj tuaj yeem raug cuam tshuam.
• Qhov no tsis ua rau muaj kev tsis taus ntawm lub hlwb.
• Kev phais mob tuaj yeem txhim kho qhov tsos thiab kev ua haujlwm ntawm lub qhov muag.
• Kev kuaj qhov muag tsis tu ncua thiab, yog tias tsim nyog, kev kho tshuaj hormones yog qhov tseem ceeb.

Nws yog ib qho ib txwm muaj uas yuav ntshai thiab txhawj xeeb thaum koj pom tias koj tus menyuam muaj tus mob no. Tab sis nco ntsoov, koj tsis yog tib leeg xwb. Nrog kev pab los ntawm cov kws kho mob thiab kev kho mob kom zoo, ntau tus neeg tau tswj hwm tus mob no thiab ua neej nyob li qub. Yog li, nyob twj ywm thiab nrhiav kev kho mob tsim nyog.

` Blepharophimosis, BPES, Qhov Muag Plab, Cov Kab Mob Genetic, Ptosis, Epicanthus Inversus, Kev Noj Qab Haus Huv Qhov Muag