Koj tus menyuam puas muaj teeb meem kev loj hlob ntawm lub hlwb? Kawm txog Holoprosencephaly (HPE)

Cov lus tsis tuaj yeem piav qhia txog kev xyiv fab thiab kev hlub uas peb hnov ​​thaum peb saib tus menyuam mos, puas yog? Tab sis qee zaum, peb cov menyuam tuaj yeem los rau hauv lub ntiaj teb no nrog cov teeb meem kev noj qab haus huv uas peb tsis xav tias yuav muaj. Hnub no, peb yuav tham txog qhov teeb meem yug los uas nyuaj me ntsis, tab sis yog ib qho uas peb yuav tsum paub txog.

Holoprosencephaly (HPE) yog dab tsi?

Hais yooj yim xwb, Holoprosencephaly, tseem hu ua HPE, yog ib qho mob uas tshwm sim thaum tus menyuam tseem nyob hauv plab. Qhov no yog qhov tsis zoo thaum yug los. Hauv qhov mob no, lub hlwb ntawm tus menyuam hauv plab tsis sib cais ua sab xis thiab sab laug thaum nws loj hlob. Koj puas paub tias peb lub hlwb feem ntau muab faib ua ob ntu tseem ceeb, sab xis hemisphere thiab sab laug hemisphere. Ob lub hemispheres no txuas nrog ib leeg thiab sib pauv cov ntaub ntawv los ntawm ib pob ntawm cov hlab ntsha hu ua corpus callosum. Tsis tas li ntawd, txhua lub hemispheres no muab faib ua lwm qhov, xws li frontal lobe, parietal lobe, occipital lobe, thiab temporal lobe.

Qhov kev faib lub hlwb ua tej feem no yog ib qho tseem ceeb heev. Vim tias qhov kev faib no pab lub hlwb ua ntau yam ntaub ntawv tib lub sijhawm thiab ua ntau yam haujlwm sib txawv. Yog li, zoo li hauv qhov xwm txheej ntawm '(HPE)', yog tias qhov kev faib no tsis tshwm sim thaum lub hlwb tab tom loj hlob zoo, nws tuaj yeem ua rau muaj ntau yam teeb meem ntsig txog lub cev thiab lub paj hlwb.

Tus mob no, hu ua 'HPE', tshwm sim thaum ntxov heev hauv kev loj hlob ntawm tus menyuam hauv plab. Qhov no txhais tau tias nws yuav yog ua ntej koj paub tias koj cev xeeb tub. Muaj ntau hom holoprosencephaly sib txawv, thiab lawv qhov hnyav thiab cov tsos mob sib txawv. Txoj kev uas tus mob cuam tshuam rau txhua tus menyuam kuj tuaj yeem sib txawv.

Cov hom mob holoprosencephaly (HPE) tseem ceeb yog dab tsi?

Muaj peb hom mob holoprosencephaly (HPE). Cia peb saib lawv raws li qhov hnyav tshaj plaws mus rau qhov hnyav tsawg tshaj plaws:

Alobar holoprosencephaly

Qhov no yog hom mob hnyav tshaj plaws . Qhov tshwm sim ntawm no yog tias lub hlwb ntawm tus menyuam hauv plab tsis sib cais ua ob lub hemispheres kiag li. Yog li ntawd, cov qauv nyob nruab nrab ntawm lub hlwb thiab lub ntsej muag ploj mus, thiab cov qhov hauv lub hlwb sib koom ua ke. Nrog rau qhov no, cov kev puas tsuaj ntawm lub ntsej muag hnyav tau pom. Feem ntau, cov menyuam mos uas muaj hom '(HPE)' no tuag thaum yug los lossis tuag sai tom qab yug los.

Semilobar holoprosencephaly

Hauv hom no, lub hlwb ntawm tus menyuam hauv plab tsuas yog muab faib ua ob lub hemispheres xwb . Qhov no tshwm sim vim tias sab laug ntawm lub hlwb txuas nrog sab xis hauv thaj chaw hu ua "frontal lobes" thiab "parietal lobes". Tsis tas li ntawd, txoj kab faib ntawm sab xis thiab sab laug hemispheres ntawm lub hlwb, "interhemispheric fissure," tsuas yog nyob tom qab ntawm lub hlwb xwb.

Lobar holoprosencephaly

Hauv hom no, lub hlwb ntawm tus menyuam hauv plab feem ntau muab faib ua ob lub hemispheres., tab sis tsis tau sib cais tag nrho. Txawm hais tias muaj ob lub hemispheres (sab xis thiab sab laug), lub cerebral hemispheres txuas ua ke hauv "frontal cortex" `. Qhov no yog daim ntawv tsawg tshaj plaws ntawm ``(HPE)``.

Qhov sib txawv ntawm Middle Interhemispheric (MIH)

Ntxiv rau peb hom tseem ceeb no, muaj ib hom thib plaub hu ua Middle Interhemispheric (MIH) variant. Qhov no yog qhov uas lub hlwb ntawm tus menyuam hauv plab txuas ua ke hauv nruab nrab.

Qhov txawv ntawm hydranencephaly thiab holoprosencephaly yog dab tsi?

Tej zaum koj yuav tsis nkag siab ob lub npe no. Hydranencephaly thiab holoprosencephaly yog ob qho tib si yug los muaj teeb meem uas cuam tshuam rau lub hlwb ntawm tus menyuam, tab sis muaj qhov sib txawv ntawm ob qho no.

Hydranencephaly yog qhov poob ib feem ntawm koj tus menyuam lub hlwb. Qhov no yog ib qho mob tsis tshua muaj hu ua hydrocephalus (lub taub hau dej). Cov menyuam mos uas muaj qhov mob no feem ntau muaj lub taub hau loj.

Txawm li cas los xij, Holoprosencephaly yog thaum lub hlwb tsis sib cais ua sab xis thiab sab laug hemispheres thaum lub sijhawm embryonic. Koj puas nkag siab qhov txawv ntawd?

Tus mob no cuam tshuam rau leej twg? Nws tshwm sim ntau npaum li cas?

Holoprosencephaly (HPE) yog ib qho mob uas cuam tshuam rau cov menyuam hauv plab uas tseem tab tom loj hlob hauv plab. Feem ntau nws tshwm sim thaum lub lim tiam thib ob thiab thib peb ntawm kev loj hlob ntawm tus menyuam hauv plab. Qhov no txhais tau tias feem ntau ua ntej koj paub tias koj cev xeeb tub.

Cov kws tshawb fawb kwv yees tias holoprosencephaly cuam tshuam txog li 1 ntawm 250 tus menyuam hauv plab thaum lub sijhawm ntxov ntawm lub cev xeeb tub (lub lim tiam thib ob thiab thib peb ntawm cev xeeb tub). Txawm li cas los xij, feem ntau ntawm cov kev xeeb tub no xaus rau kev rho menyuam lossis yug menyuam tuag.

Yog li ntawd, holoprosencephaly yog ib qho mob tsis tshua muaj nyob rau hauv cov menyuam yug los muaj sia, tshwm sim ntawm kwv yees li 1 ntawm 16,000 tus menyuam yug los muaj sia.

Cov tsos mob ntawm holoprosencephaly (HPE) yog dab tsi?

Vim muaj ntau hom mob holoprosencephaly (HPE) sib txawv, qhov hnyav thiab cov tsos mob tuaj yeem sib txawv. Qhov no txhais tau tias cov tsos mob no tuaj yeem sib txawv ntawm ib tus menyuam mus rau lwm tus.

Cov tsos mob feem ntau

Cov tsos mob ntawm HPE feem ntau muaj xws li:

• Kev loj hlob qeeb .
• Kev tsis taus ntawm kev txawj ntse.
• Kab mob qaug dab peg thiab qaug dab peg.
• Muaj lub taub hau me me (microcephaly).
• Muaj lub taub hau loj (macrocephaly).
• Cov kua dej ntau dhau hauv lub hlwb (hydrocephalus).
• Kev tsis zoo ntawm lub ntsej muag .
• Kev tsis zoo ntawm cov hniav (piv txwv li, muaj ib lub hniav txiav hauv nruab nrab).
• Cleft di ncauj thiab/lossis palate.
• Nyuaj tswj qhov kub ntawm lub cev, lub plawv dhia, thiab kev ua pa.
• Nyuaj noj mov.

Cov yam ntxwv ntawm Alobar HPE

Qhov no yog hom mob hnyav tshaj plaws, yog li cov tsos mob hnyav dua:

• Muaj ib lub qhov muag xwb (cyclopia), muaj ob lub qhov muag sib ze dhau (ethmocephaly), lossis tsis muaj ob lub qhov muag li (anophthalmia).
• Muaj lub qhov muag me me heev (microphthalmia) thiab lub qhov ntswg zoo li lub raj (proboscis).
• Ib lub qhov ntswg tiaj tus nrog ob lub qhov muag ze ze (orbital hypotelorism) lossis ib daim di ncauj uas tshwm sim hauv nruab nrab ntawm daim di ncauj (median cleft lip) lossis ob sab (bilateral cleft lip).

Cov yam ntxwv ntawm Semilobar HPE

• Qhov muag sib nrug ze (orbital hypotelorism), qhov muag me me heev (microphthalmia), lossis ib lossis ntau qhov muag (anophthalmia).
• Ua kom lub choj thiab lub qhov ntswg tiaj tus.
• Ib lub qhov ntswg xwb.
• Daim di ncauj nruab nrab los yog daim di ncauj ob sab.
• Cleft palate.

Cov yam ntxwv ntawm Lobar HPE

Qhov no yog hom mob uas tsis hnyav heev, tab sis koj yuav pom cov tsos mob no:

• Ob sab ntawm daim di ncauj tawg.
• Pom ze ntawm ob lub qhov muag.
• Lub qhov ntswg tiaj tus los yog poob qis.

Tus mob no, hu ua holoprosencephaly, kuj tseem tuaj yeem tshwm sim ua ib feem ntawm ntau yam kab mob caj ces sib txawv. Txhua tus ntawm cov kab mob no muaj nws cov cim thiab tsos mob tshwj xeeb.

Dab tsi ua rau muaj holoprosencephaly (HPE)?

Feem ntau, lub hlwb ntawm tus menyuam hauv plab faib ua ob lub hemispheres thaum ntxov ntawm kev loj hlob. Holoprosencephaly (HPE) tshwm sim thaum lub hlwb pem hauv ntej, prosencephalon, tsis sib cais ua sab xis thiab sab laug hemispheres. Qhov ntawd yog, es tsis txhob sab laug thiab sab xis ntawm lub hlwb pem hauv ntej sib cais tag nrho, muaj kev sib txuas tsis zoo ntawm ob qho.

Tshwj xeeb, holoprosencephaly tuaj yeem tshwm sim los ntawm:

• Kev hloov pauv tshwm sim hauv tsawg kawg 14 lub noob sib txawv .
• Kev tsis zoo ntawm cov chromosomes .
• Qee cov tsos mob caj ces .

Txawm li cas los xij, feem ntau, cov kws kho mob tsis tuaj yeem nrhiav tau qhov ua rau tseeb.

Kev hloov pauv caj ces

Kev hloov pauv caj ces yog kev hloov pauv ntawm cov kab ke ntawm koj cov DNA. Cov kab ke ntawm DNA no muab cov ntaub ntawv rau koj cov cell uas lawv xav tau los ua lawv txoj haujlwm. Yog li, yog tias ib feem ntawm cov kab ke ntawm DNA tsis tiav lossis puas tsuaj, koj yuav muaj cov tsos mob ntawm tus mob caj ces.

Ib tug me nyuam muaj peev xwm tau txais kev hloov pauv caj ces los ntawm ib tug lossis ob leeg niam txiv, nyob ntawm seb qhov kev hloov pauv no tau kis mus li cas. Txawm li cas los xij, qee qhov kev hloov pauv kuj tshwm sim tsis tu ncua, uas txhais tau tias tsis muaj leej twg hauv tsev neeg muaj keeb kwm ntawm kev hloov pauv.

Cov kws tshawb fawb tau txuas cov kev hloov pauv hauv cov noob caj noob ces hauv qab no rau tus mob (HPE):

• `SHH`
• `RAU3`
• `TGIF1`
• `ZIC2`
• `PTCH1`
• `FOXH1`
• `NODAL`
• `CDON`
• `FGF8`
• `GLI2`

Cov kev hloov pauv no ua rau cov noob caj noob ces thiab cov protein uas lawv tsim tawm tsis ua haujlwm zoo. Qhov no yog qhov cuam tshuam rau kev loj hlob ntawm lub hlwb ntawm tus menyuam hauv plab thiab ua rau muaj holoprosencephaly.

Kev tsis zoo ntawm cov chromosome

Peb txhua tus muaj 46 lub chromosomes hauv peb lub hlwb, teeb tsa ua 23 khub. Cov chromosomes no nqa peb cov DNA. Hais yooj yim, lawv muaj cov lus qhia rau peb lub cev kom loj hlob thiab ua haujlwm. Peb tau txais ib pawg chromosomes los ntawm peb niam thiab ib pawg los ntawm peb txiv.

Kwv yees li ib feem peb ntawm cov menyuam mos uas yug los muaj holoprosencephaly muaj qhov tsis zoo ntawm cov chromosomes. Qhov tsis zoo ntawm cov chromosomes feem ntau cuam tshuam nrog HPE yog qhov muaj peb daim qauv ntawm chromosome 13, hu ua trisomy 13. Trisomy 18 (peb daim qauv ntawm chromosome 18) thiab triploidy (qhov muaj 69 chromosomes hauv ib lub cell es tsis yog 46 ib txwm muaj) kuj tuaj yeem ua rau HPE.

Cov tsos mob ntawm cov noob caj noob ces

Qee zaum holoprosencephaly tuaj yeem tshwm sim ua ib feem ntawm qee cov kab mob caj ces uas ua rau muaj lwm yam teeb meem kev kho mob ntxiv rau HPE.

Qee cov kab mob caj ces uas cuam tshuam nrog HPE yog:

• `(Hartsfield syndrome)`
• `(Kallman syndrome ob)`
• `(Steinfeld syndrome)`
• `(Smith-Lemli-Opitz syndrome)`
• `(Stromme syndrome)`

Yuav kuaj mob holoprosencephaly (HPE) li cas?

Cov kws kho mob feem ntau tuaj yeem kuaj pom tus mob holoprosencephaly (HPE), tshwj xeeb tshaj yog cov mob hnyav, ua ntej tus menyuam yug los, siv kev ntsuas ultrasound ua ntej yug. Tus mob no kuj tseem tuaj yeem kuaj pom ua ntej yug los nrog kev ntsuas MRI (Magnetic Resonance Imaging) ntawm tus menyuam hauv plab.

Txawm hais tias cov kev kuaj duab ua ntej yug me nyuam no tuaj yeem kuaj pom HPE, feem ntau HPE raug kuaj pom tom qab tus me nyuam yug los , thaum muaj teeb meem ntawm lub ntsej muag lossis teeb meem ntawm lub paj hlwb pib tshwm sim. Tom qab ntawd kev kuaj duab ntawm lub taub hau raug ua los xyuas kom meej tias tau kuaj pom.

Cov menyuam mos uas muaj cov kab mob holoprosencephaly me me yuav tsis raug kuaj pom kom txog thaum lawv muaj li ib xyoos. Hauv cov xwm txheej zoo li no, kev loj hlob qeeb yuav yog qhov qhia tias yuav muaj teeb meem nrog lub paj hlwb. Cov kws kho mob mam li xaj kom kuaj duab hlwb.

Kev kuaj mob

Cov kws kho mob siv cov kev kuaj duab hauv qab no los kuaj mob holoprosencephaly tom qab tus menyuam yug los:

• Kev siv ultrasound rau lub taub hau: Kev siv ultrasound (tseem hu ua sonography) yog kev kuaj duab uas tsis mob thiab tsis mob uas siv cov suab nrov siab los tsim cov duab tiag tiag lossis cov yeeb yaj kiab ntawm cov nqaij xws li cov kabmob sab hauv lossis cov hlab ntsha.
• Kev kuaj mob ntawm lub hlwb los ntawm kev siv magnetic resonance imaging (MRI):Kev kuaj MRI kuj yog ib qho kev kuaj uas tsis mob. Nws tuaj yeem ua rau pom cov duab meej heev ntawm cov qauv thiab cov nqaij hauv koj tus menyuam lub hlwb. Kev kuaj MRI siv lub hlau nplaum loj, cov nthwv dej xov tooj cua, thiab lub khoos phis tawj. Nws tsis siv X-rays (kev tawm hluav taws xob).
• Kev thaij duab lub taub hau los ntawm kev siv computer (CT): Kev thaij duab CT yog ib qho kev kuaj uas siv cov duab X-ray thiab lub computer los tsim ntau daim duab peb-seem (3D) ntawm lub cev uas raug kuaj (hauv qhov no, koj tus menyuam lub taub hau thiab lub hlwb).

Yog tias ua tau, cov kws kho mob yuav ua kev tshawb nrhiav DNA, suav nrog kev tshuaj xyuas chromosomal, cytogenetic thiab molecular tests, los txiav txim siab qhov ua rau HPE.

Yog tias kev kuaj noob caj noob ces qhia txog teeb meem chromosomal lossis noob caj noob ces uas cuam tshuam nrog holoprosencephaly, koj tus kws kho mob yuav pom zoo kom koj nrhiav kev pab tswv yim txog noob caj noob ces yog tias koj npaj yuav muaj lwm tus menyuam.

Cov kev kho mob rau holoprosencephaly (HPE) yog dab tsi?

Tu siab kawg li, tam sim no tsis muaj kev kho mob lossis kev kho mob loj rau tus mob holoprosencephaly (HPE). Hloov chaw, cov kws kho mob kho txhua tus menyuam uas muaj HPE raws li lawv cov tsos mob tshwj xeeb. Qhov no txhais tau tias cov kev xaiv kho mob sib txawv ntawm ib tus menyuam mus rau ib tus menyuam.

Kev kho mob no yuav xav tau kev sib koom tes ntawm ib pab neeg tshwj xeeb sib txawv, suav nrog:

• Cov kws kho mob menyuam yaus
• Cov kws kho mob hlwb
• Cov kws kho mob endocrinologist
• Cov kws phais yas
• Cov kws kho mob ua haujlwm thiab cov kws kho lub cev
• Pab neeg saib xyuas kev noj qab haus huv
• Pab neeg saib xyuas kev nyuaj siab

Cov neeg zoo li ntawd tuaj yeem suav nrog.

Cov kev kho mob uas nquag muaj

Nov yog qee qhov kev kho mob uas siv ntau tshaj plaws rau HPE:

• Cov tshuaj tiv thaiv qaug dab peg kom tiv thaiv, txo, lossis tswj qaug dab peg.
• Yog tias koj tus menyuam muaj hydrocephalus, nws tuaj yeem kho tau nrog ventriculoperitoneal (VP) shunt.
• Cov tshuaj thiab kev kho mob ua haujlwm thiab kev kho lub cev tuaj yeem pab nrog cov teeb meem kev txav mus los xws li cov leeg nqaij tawv (spasticity) thiab kev txav mus los tsis kam (dystonia).
• Kev phais kho dua tshiab rau daim di ncauj tawg thiab lub qhov ncauj qhib lossis lwm yam ntxwv ntawm lub ntsej muag.
• Cov tshuaj siv los kho cov tshuaj hormones tsis sib npaug hauv cov qog pituitary.
• Ua cov kauj ruam los txhim kho kev noj zaub mov ntawm cov menyuam yaus uas muaj teeb meem noj mov. Piv txwv li, pub mov los ntawm ib lub raj rau hauv plab (gastrostomy tube - G-tube).

Tag nrho cov no yog ua los muab qhov zoo tshaj plaws ntawm lub neej rau tus menyuam.

Puas tiv thaiv tau tus kab mob holoprosencephaly (HPE)?

Hmoov tsis zoo, holoprosencephaly (HPE) tshwm simMuaj ntau yam mob uas peb tiv thaiv tsis tau. Qhov no yog vim tias feem ntau cov teeb meem no yog los ntawm cov teeb meem caj ces uas "zais" los ntawm cov noob caj ces. Yog tias koj npaj yuav muaj menyuam, nws yog ib lub tswv yim zoo los tham nrog koj tus kws kho mob txog kev kuaj noob caj ces kom nkag siab txog qhov kev pheej hmoo ntawm koj tus menyuam uas yuav muaj mob caj ces lossis kev hloov pauv noob caj ces uas tau txais los ntawm cov noob caj ces, xws li HPE.

Txawm li cas los xij, cov kws tshawb fawb tau txheeb xyuas qee yam uas ua rau muaj kev pheej hmoo uas yuav ua rau tus menyuam hauv plab muaj holoprosencephaly. Cov no suav nrog:

• Muaj mob ntshav qab zib: Yog tias koj muaj mob ntshav qab zib hom 1 lossis hom 2 ua ntej koj cev xeeb tub, koj yuav muaj feem ntau dua los muaj menyuam yaus uas muaj HPE. Qhov no tsis yog yuav tsum tsis meej pem nrog mob ntshav qab zib thaum cev xeeb tub, uas tshwm sim thaum cev xeeb tub.
• Tsis txaus Folate (folic acid): Folate, hom vitamin B9 ntuj, yog qhov tseem ceeb rau kev loj hlob ntawm tus menyuam hauv plab, tshwj xeeb tshaj yog lub hlwb thiab tus txha caj qaum. Tsis txaus Folate ua ntej thiab thaum cev xeeb tub yuav ua rau muaj kev pheej hmoo ntawm kev muaj menyuam yaus uas muaj HPE.
• Kev raug rau cov tshuaj teratogens: Teratogens yog cov tshuaj lossis cov yam uas ua rau muaj teeb meem nrog kev loj hlob ntawm tus menyuam hauv plab thiab ua rau muaj kev puas tsuaj rau menyuam yug los. Kev raug rau cov tshuaj teratogens, xws li ethanol (cawv), retinoic acid, thiab mycotoxins (cov tshuaj lom pwm) los ntawm cov zaub mov, yuav ua rau muaj kev pheej hmoo ntawm kev muaj menyuam yaus nrog holoprosencephaly.

Yog li ntawd, nws yog ib qho tseem ceeb heev uas yuav tsum ua raws li kev ua neej noj qab haus huv, noj zaub mov kom sib npaug, thiab ua raws li cov lus qhia kho mob thaum cev xeeb tub thiab ua ntej cev xeeb tub.

Yuav ua li cas thiaj paub tias tus kab mob holoprosencephaly (HPE) yuav muaj li cas?

Qhov kev kwv yees, lossis kev kwv yees, rau holoprosencephaly (HPE) sib txawv nyob ntawm qhov hnyav ntawm tus mob thiab qhov ua rau tshwj xeeb.

Feem ntau cov menyuam uas muaj tus kab mob HPE nruab nrab mus rau hnyav feem ntau yuav tsis muaj sia nyob mus txog thaum lawv loj hlob. Cov menyuam uas muaj tus kab mob HPE me me mus rau nruab nrab feem ntau yuav muaj sia nyob mus txog thaum lawv loj hlob, tab sis lawv feem ntau yuav tsum tau nyob nrog cov teeb meem kev kho mob ntsig txog HPE.

Muaj ntau tus menyuam uas muaj holoprosencephaly xav tau cov tshuaj thiab kev kho mob txhua hnub kom tiv thaiv kev qaug dab peg thiab kho lwm yam teeb meem.

Lub neej ntev

Lub neej ntev ntawm ib tug neeg uas muaj holoprosencephaly (HPE) nyob ntawm hom HPE uas lawv muaj thiab qhov ua rau muaj tus mob no.

Cov menyuam mos uas muaj Alobar HPE (hom mob hnyav tshaj plaws) feem ntau tuag thaum yug los tuag, tsis ntev tom qab yug los lossis hauv rau lub hlis thawj zaug ntawm lub neej.

Ntau tshaj 50% ntawm cov menyuam yaus uas muaj semilobar lossis lobar HPE, thiab tsis muaj lwm yam kev txawv txav ntawm lub cev, muaj sia nyob tsawg kawg yog 12 lub hlis.

Cov menyuam yaus uas muaj mob HPE me me feem ntau yuav muaj sia nyob mus txog thaum lawv loj hlob.

Yog tias kuv tus menyuam muaj mob holoprosencephaly (HPE), kuv yuav tsum xav li cas?

Qhov no tseem ceeb heev. Nco ntsoov tias tsis muaj ob tug menyuam uas muaj tus kab mob holoprosencephaly (HPE) raug kev cuam tshuam tib yam. Tsis muaj ib txoj hauv kev los paub tseeb tias koj tus menyuam yuav raug kev cuam tshuam li cas. Qhov zoo tshaj plaws uas koj tuaj yeem ua tau los npaj rau yav tom ntej yog tham nrog cov kws tshwj xeeb uas tshawb fawb thiab kho tus kab mob holoprosencephaly. Lawv tuaj yeem muab cov ntaub ntawv ntxiv rau koj txog qhov no.

Kuv yuav saib xyuas kuv tus menyuam uas muaj holoprosencephaly (HPE) li cas?

Yuav pab saib xyuas koj tus menyuam uas muaj tus kab mob holoprosencephaly (HPE), ua raws li cov lus qhia no los ntawm lawv cov kws kho mob:

• Muab cov tshuaj uas tau sau tseg raws li tau qhia.
• Mus saib cov kev ntsuam xyuas kev loj hlob thiab kev kho mob.
• Nco ntsoov mus ntsib kws kho mob txhua zaus koj mus ntsib kws kho mob.

Holoprosencephaly tuaj yeem ua rau muaj teeb meem kev xav, kev puas hlwb, thiab/lossis kev txav mus los. Ntau tus menyuam uas muaj HPE muaj teeb meem kev loj hlob thiab tej zaum yuav xav tau kev pab nrog cov dej num txhua hnub thoob plaws lawv lub neej.

Pab neeg kho mob ntawm koj tus menyuam tuaj yeem teb koj cov lus nug thiab muab kev txhawb nqa rau koj. Lawv kuj tseem tuaj yeem coj koj mus rau cov pab pawg txhawb nqa hauv koj cheeb tsam lossis hauv online. Nco ntsoov tias koj tsis yog tib leeg xwb.

Kuv yuav tsum mus ntsib kuv tus menyuam tus kws kho mob thaum twg?

Yog tias koj tus menyuam tau raug kuaj pom tias muaj tus kab mob holoprosencephaly (HPE), lawv yuav tsum tau mus ntsib lawv pab neeg kho mob tsis tu ncua kom paub tseeb tias lawv txoj kev kho mob ua haujlwm thiab los soj ntsuam lawv txoj kev loj hlob.

Kev nrhiav pom tias koj tus menyuam muaj holoprosencephaly tuaj yeem nyuaj rau daws. Tab sis paub tias koj tsis nyob ib leeg. Muaj ntau yam kev pab cuam muaj los pab koj thiab koj tsev neeg. Nws yog ib qho tseem ceeb uas yuav tsum tham nrog tus kws kho mob uas paub txog qhov mob no. Qhov no yuav pab koj kawm paub ntxiv txog seb koj tus menyuam yuav raug cuam tshuam li cas thiab yuav npaj li cas rau nws.

Thaum kawg, tej yam yuav tsum nco ntsoov (Cov Lus Coj Mus Tsev)

Holoprosencephaly (HPE) yog ib qho teeb meem nyuaj uas tshwm sim thaum tus menyuam lub hlwb tsis sib cais ua ob lub hemispheres hauv plab.

• Muaj ntau hom thiab ntau theem ntawm qhov hnyav , yog li cov tsos mob sib txawv ntawm ib tus menyuam mus rau ib tus menyuam.
• Feem ntau muaj cov teeb meem caj ces thiab cov teeb meem chromosomal tsis zoo , tab sis qee zaum nrhiav tsis tau qhov ua rau.
• Txawm hais tias nws tuaj yeem kuaj pom ua ntej yug los nrog ultrasound lossis MRI, nws feem ntau tsuas yog kuaj pom tom qab yug los.
• Tsis muaj kev kho mob tshwj xeeb , tab sis muaj ntau yam kev kho mob los tswj cov tsos mob thiab txhawb nqa tus menyuam.
• Qhov kev xav txog tus mob no yuav txawv nyob ntawm seb tus mob hnyav npaum li cas. Yog tias mob me me xwb, cov menyuam yaus yuav muaj sia nyob mus txog thaum lawv loj hlob.
• Yog tias koj cev xeeb tub lossis npaj yuav cev xeeb tub, ceev faj txog tej yam xws li tswj koj tus kab mob ntshav qab zib thiab noj folic acid.
• Koj tsis yog tib tug neeg uas muaj teeb meem no. Koj tuaj yeem tau kev pab los ntawm cov kws kho mob, cov kws pab tswv yim, thiab cov pab pawg txhawb nqa. Cov ntaub ntawv tseeb thiab kev txhawb nqa yog qhov tseem ceeb heev.

Holoprosencephaly , HPE, teeb meem ntawm lub hlwb, kev yug los tsis zoo, kev loj hlob ntawm tus menyuam hauv plab, cov kab mob caj ces, kev tsis zoo ntawm chromosomal, kev noj qab haus huv ntawm cev xeeb tub, kev noj qab haus huv ntawm menyuam yaus