Mob Wolf-Hirschhorn Syndrome yog dab tsi? Nws puas tuaj yeem cuam tshuam rau koj tus menyuam?

Koj puas tau hnov ​​txog ib yam mob caj ces hu ua Wolf-Hirschhorn Syndrome? Tej zaum koj tau pom qee cov tsos mob hauv koj tus menyuam thiab tsis paub tseeb tias nws yog dab tsi. Yog tias yog, tsab xov xwm no yuav tseem ceeb heev rau koj. Cia peb tham txog nws yooj yim, hauv txoj kev uas koj tuaj yeem nkag siab. Tsis txhob ntshai, kev paub yog thawj kauj ruam.

Dab tsi yog Wolf-Hirschhorn Syndrome tiag tiag?

Hais yooj yim xwb, Wolf-Hirschhorn Syndrome yog ib qho mob caj ces tsis tshua muaj . Nws yog tshwm sim los ntawm kev hloov me me ntawm cov chromosomes hauv peb lub hlwb. Xav txog nws zoo li lub tsev uas tau tsim raws li ib txoj kev npaj nyuaj. Txoj kev npaj no nyob hauv peb cov noob caj ces. Cov chromosomes yog cov qauv uas khaws cov ntaub ntawv caj ces no.

Yog hais kom meej, qhov mob no hu ua Wolff-Hirschhorn syndrome tshwm sim thaum muaj kev poob lossis rho tawm ntawm cov khoom siv caj ces ntawm qhov kawg ntawm caj npab luv ntawm chromosome 4, uas muaj nyob rau hauv tag nrho peb cov hlwb. Yog vim li cas nws qee zaum hu ua '4p- syndrome'. Tsab ntawv 'p' sawv cev rau caj npab luv ntawm chromosome.

Qhov kev hloov pauv caj ces no tuaj yeem cuam tshuam rau ntau qhov ntawm lub cev ntawm tus menyuam, tshwj xeeb tshaj yog lub plawv thiab lub hlwb . Nws kuj tseem tuaj yeem ua rau qee tus menyuam muaj qaug dab peg. Cov menyuam uas muaj tus mob no yuav muaj qee yam ntawm lub ntsej muag. Piv txwv li, qhov deb ntawm ob lub qhov muag dav dua li qub, lub hauv pliaj siab, thiab lub taub hau me dua li qub. Tsis yog li ntawd xwb, nws kuj tseem tuaj yeem cuam tshuam rau tus menyuam txoj kev loj hlob ntawm kev txawj ntse thiab kev loj hlob ntawm lub cev .

Leej twg raug kev cuam tshuam ntau tshaj plaws los ntawm qhov xwm txheej no?

Vim tias Wolff-Hirschhorn syndrome yog ib qho mob caj ces, nws tuaj yeem tshwm sim rau txhua tus neeg . Feem ntau, nws tsis yog los ntawm kev txais los ntawm niam txiv. Qhov no txhais tau tias nws tsis tau dhau los ntawm niam txiv mus rau menyuam. Feem ntau, qhov mob no yog los ntawm kev hloov pauv chromosome (de novo) . Qhov no tuaj yeem tshwm sim thaum lub sijhawm tsim cov qe ntawm niam, lossis thaum lub sijhawm tsim cov noob caj ces ntawm txiv, lossis thaum ntxov ntawm lub embryo. Thaum qhov kev hloov pauv "de novo" no tshwm sim, tsis muaj leej twg hauv tsev neeg yuav tsum tau muaj tus mob no ua ntej.

Txawm li cas los xij, kev tshawb fawb tau qhia tias cov ntxhais muaj feem yuav mob no ntau dua li cov tub hluas.

Tus mob Wolff-Hirschhorn syndrome no feem ntau tshwm sim li cas?

Qhov no yog ib qho mob tsis tshua muaj . Raws li cov ntaub ntawv suav, kwv yees li ib ntawm 50,000 tus menyuam yug los muaj teeb meem no.Kwv yees li ntawm 100,000 tus neeg xwb uas muaj tus mob no. Txawm li cas los xij, qhov kev kwv yees no tej zaum yuav tsis txaus ntseeg. Tej tus menyuam yuav tsis tau txais kev kuaj mob vim lawv cov tsos mob tsis hnyav heev lossis tsis hnyav heev uas lawv yuav tsis muaj tus mob no. Lossis, tej zaum cov tsos mob yuav raug kuaj mob tsis raug raws li cov tsos mob ntawm lwm yam mob caj ces.

Cov tsos mob ntawm Wolff-Hirschhorn syndrome yog dab tsi?

Cov tsos mob ntawm tus mob Wolff-Hirschhorn yuav txawv ntawm ib tug me nyuam mus rau ib tug me nyuam, thiab lawv qhov hnyav yuav txawv . Cov tsos mob no cuam tshuam rau ntau qhov ntawm tus me nyuam lub cev.

Cov yam ntxwv tshwj xeeb pom ntawm lub ntsej muag

Muaj tej yam tshwj xeeb ntawm lub ntsej muag uas pom tau rau cov menyuam yaus uas muaj tus mob no. Cov no suav nrog:

• Cleft palate los yog cleft di ncauj: Qee tus menyuam yaus yuav yug los nrog cleft palate los yog cleft di ncauj sab saud.
• Cov yam ntxwv ntawm lub ntsej muag tsis sib xws: Qhov no txhais tau tias sab xis thiab sab laug ntawm lub ntsej muag tsis zoo ib yam, thiab tej zaum yuav muaj qhov sib txawv ntawm qhov loj me lossis cov duab.
• Choj qhov ntswg tiaj tus: Sab saum toj ntawm lub qhov ntswg yuav tiaj tus.
• Lub hauv pliaj siab: Thaj tsam ntawm lub hauv pliaj yuav siab dua li qub.
• Pob ntseg qis lossis tsis zoo li qub: Cov pob ntseg yuav qis dua li qub lossis tej zaum yuav muaj qee qhov kev hloov pauv ntawm cov duab ntawm pob ntseg.
• Cov hniav uas ploj lawm los yog tsis zoo li qub: Tej zaum yuav muaj tej hniav uas tsis tshwm sim los yog tej zaum yuav muaj tej yam tsis zoo li qub ntawm cov hniav.
• Lub puab tsaig me (micrognathia): Lub puab tsaig tej zaum yuav me dua li qub.
• Lub taub hau me: Lub taub hau yuav me dua li qub.
• Qhov muag dav thiab loj: Qhov chaw nruab nrab ntawm ob lub qhov muag yuav loj dua, thiab ob lub qhov muag yuav zoo li loj dua thiab loj me ntsis. Qhov no qee zaum hu ua "Greek warrior helmet appearance," tab sis nws tsis zoo ib yam rau txhua tus.

Cov yam ntxwv ntawm kev loj hlob thiab kev txhim kho

Thaum tus menyuam tseem nyob hauv plab, nws loj hlob qeeb qeeb . Qhov no tuaj yeem ua rau muaj teeb meem thaum yug los:

• Cov leeg tsis muaj zog (hypotonia) lossis cov leeg tsis loj hlob: Tus menyuam yuav muaj lub cev tsis muaj zog, tsis muaj zog. Qhov no yuav yog vim cov leeg tsis tau loj hlob tag nrho.
• Cov kauj ruam loj hlob qeeb: Ib yam li lwm tus menyuam mos, nws yuav siv sijhawm rau tej yam xws li txhawb lub caj dab, dov, zaum, sawv ntsug, thiab taug kev kom tshwm sim.
• Teeb meem pub mis: Tej yam xws li tsis muaj peev xwm haus mis lossis nyuaj nqos zaub mov tuaj yeem ua rau tus menyuam tsis tau txais cov khoom noj khoom haus uas lawv xav tau.
• Nyuaj nce phaus: Vim yog cov teeb meem noj mov no, tus menyuam qhov hnyav nce qeeb.

Vim yog cov kev loj hlob qeeb no, tus menyuamNws kuj tseem tuaj yeem ua rau luv luv .

Cov tsos mob ntsig txog lub hlwb

Cov menyuam yaus uas yug los nrog Wolff-Hirschhorn syndrome yuav muaj qee qhov kev tsis taus ntawm lub hlwb . Qhov no tuaj yeem tsis hnyav rau qee tus menyuam thiab hnyav dua rau lwm tus. Kev tshawb fawb tau qhia tias cov menyuam no yuav muaj kev txawj sib raug zoo, tab sis yuav muaj teeb meem nrog lus thiab kev sib txuas lus . Qhov no txhais tau tias txawm hais tias lawv yuav muaj peev xwm luag thiab ua si nrog lwm tus, lawv yuav muaj teeb meem hais lus thiab hais lus.

Tsis tas li ntawd xwb, cov menyuam no yuav muaj qaug dab peg thaum yau . Qee zaum cov qaug dab peg no yuav tsis kho tau. Txawm li cas los xij, thaum tus menyuam loj hlob tuaj, qhov zaus ntawm cov qaug dab peg no yuav txo qis lossis ploj mus tag.

Cov tsos mob cuam tshuam rau lwm yam kab mob hauv lub cev

Wolff-Hirschhorn syndrome kuj tseem tuaj yeem cuam tshuam rau lwm qhov ntawm lub cev ntawm tus menyuam:

• Kab mob txha caj qaum (scoliosis lossis kyphosis): Tej yam mob xws li kab mob sab nraud lossis kab mob txha caj qaum khoov rau pem hauv ntej (kyphosis) tuaj yeem tshwm sim.
• Tawv nqaij qhuav: Tawv nqaij tuaj yeem qhuav txhua lub sijhawm.
• Cov teeb meem ntawm kev loj hlob ntawm lub plawv (atrial septal defect): Cov mob plawv uas yug los ntawm thaum yug los xws li lub qhov hauv phab ntsa ntawm lub atria ntawm lub plawv tuaj yeem tshwm sim.
• Kev tiv thaiv kab mob tsis zoo: Vim lub cev tsis muaj peev xwm tiv taus kab mob, kev kis kab mob tuaj yeem tshwm sim ntau zaus.
• Teeb meem kev ua haujlwm ntawm lub raum: Kev ua haujlwm ntawm lub raum yuav raug cuam tshuam.
• Teeb meem nrog txoj hlab zis thiab txoj hlab zis (genitourinary tract): Tej zaum yuav muaj teeb meem nrog txoj hlab zis lossis cov kab mob hauv txoj hlab zis.
• Teeb meem pom kev: Tej zaum yuav muaj teeb meem pom kev.

Vim li cas Wolff-Hirschhorn syndrome thiaj tshwm sim?

Raws li peb tau tham ua ntej lawm, qhov ua rau muaj tus mob Wolff-Hirschhorn syndrome yog qhov poob (rho tawm) ntawm ib feem ntawm cov khoom siv caj ces ntawm lub caj npab luv ntawm chromosome 4 (4p) . Qhov kev poob ntawm ib feem ntawm chromosome no tshwm sim thaum lub sijhawm tsim ntawm niam lub qe lossis txiv lub noob qe, lossis thaum lub sijhawm ntxov ntawm embryogenesis. Lub sijhawm no, thaum cov hlwb yug me nyuam faib, cov chromosomes tsis raug theej raws nraim, thiab ib feem ntawm chromosome tawg thiab ploj mus.

Tsis tshua muaj, Wolff-Hirschhorn syndrome kuj tseem tuaj yeem tshwm sim los ntawm ib qho mob hu ua chromosome nplhaib . Qhov no yog thaum lub chromosome tawg ua ob qho chaw thiab ob qhov kawg tawg sib koom ua ke los ua ib lub nplhaib zoo li. Thaum qhov no tshwm sim, ib feem ntawm chromosome tawg thiab raug tshem tawm.

Thaum ib tug me nyuam poob ib feem ntawm lawv cov chromosome, cov noob caj noob ces ntawm qhov ntawd tsis tau txais cov lus qhia uas xav tau los tsim lub cev. Qhov ntawd yog qhov ua rau muaj cov tsos mob ntawm Wolff-Hirschhorn syndrome. Qhov loj ntawm qhov ploj ntawm cov chromosome tuaj yeem txawv ntawm ib tus neeg mus rau ib tus neeg. Yog tias ib tug me nyuam ploj ib feem loj ntawm lawv cov chromosome thib plaub, cov tsos mob tuaj yeem hnyav dua.

Qhov no puas yog ib yam dab tsi uas los ntawm ntau tiam neeg los?

Feem ntau (kwv yees li 90%) qhov no yog vim muaj kev hloov pauv caj ces "de novo" tshiab, tab sis muaj ib feem pua ​​me me xwb (kwv yees li 10-15%) nws tuaj yeem tau txais los ntawm ib leej niam lossis txiv . Hauv cov xwm txheej zoo li no, ib tug ntawm cov niam txiv (feem ntau yog leej niam) yuav muaj tus mob hu ua balanced translocation .

Hais yooj yim xwb, qhov kev hloov pauv sib npaug yog thaum ob lossis ntau dua chromosomes hauv ib tus neeg tawg, cov khoom sib pauv nrog ib leeg, thiab tom qab ntawd rov txuas dua rau lwm txoj hauv kev. Cov neeg uas muaj hom "kev hloov pauv sib npaug" no feem ntau tsis muaj teeb meem kev noj qab haus huv thiab noj qab nyob zoo. Txawm li cas los xij, thaum lawv muaj menyuam, lawv yuav muaj feem ntau dua los xa cov qauv tsis sib npaug ntawm kev hloov pauv mus rau lawv cov menyuam. Qhov no txhais tau tias tus menyuam yuav muaj ib daim chromosome 4 ntxiv lossis ploj lawm. Yog tias qhov kev hloov pauv no ua rau poob lossis txo qis ntawm thaj chaw ntawm chromosome 4 hu ua 4p16.3, tus menyuam yuav muaj Wolff-Hirschhorn syndrome. Qee zaum, "kev hloov pauv sib npaug" no tuaj yeem khiav hauv tsev neeg rau ntau tiam neeg.

Koj kuaj mob no li cas kom meej?

Koj tus kws kho mob yuav xav tias Wolff-Hirschhorn syndrome thaum koj tus menyuam tseem yau, tshwj xeeb tshaj yog tias lawv pom cov tsos mob zoo li no:

• Cov yam ntxwv tshwj xeeb ntawm lub ntsej muag
• Teeb meem kev loj hlob
• Kev loj hlob qeeb
• Qaug dab peg

Yog koj muaj ib lossis ntau yam ntawm cov tsos mob no, tus kws kho mob yuav tshuaj xyuas ntxiv.

Cov kev kuaj mob twg thiaj paub tseeb tias tau kuaj pom tias muaj tus kab mob no?

Txoj kev tseem ceeb los paub tseeb tias kuaj tau yog los ntawm kev kuaj noob caj noob ces . Qhov no hu ua kev kuaj chromosome microarray . Qhov no yog ua los nrhiav txawm tias qhov kev hloov pauv me tshaj plaws hauv tus menyuam cov chromosomes. Kev kuaj no siv tau cov qauv ntshav, cov qauv qaub ncaug, lossis daim ntaub so ntawm sab plhu. Siv cov qauv no, cov kws kho mob kuaj tus menyuam cov DNA.

Yog tias qhov kev kuaj no lees paub tias ib feem ntawm chromosome 4, uas yog thaj chaw hu ua 4p16.3, raug tshem tawm , tus menyuam raug kuaj pom tias muaj Wolff-Hirschhorn syndrome.

Koj ua dab tsi li kev kho mob?

Vim tias Wolff-Hirschhorn syndrome yog ib yam mob uas los ntawm noob caj noob ces, tam sim no tsis muaj tshuaj kho tau . Txawm li cas los xij,Muaj ntau txoj kev kho mob uas tuaj yeem pab tswj cov tsos mob thiab pab tus menyuam kom muaj sia nyob zoo li sai tau. Kev kho mob yog npaj raws li cov tsos mob ntawm txhua tus menyuam.

Cov kev kho mob tseem ceeb yog raws li nram no:

• Kev Phais Mob: Tej zaum yuav xav tau kev phais mob kom kho qee qhov teeb meem hauv kev loj hlob ntawm tus menyuam, tshwj xeeb tshaj yog cov teeb meem ntawm lub plawv (xws li qhov tsis zoo ntawm lub plawv atrial septal).
• Kev kho lub cev lossis kev kho mob ua haujlwm: Cov kev kho mob no pab txhim kho cov leeg nqaij kom muaj zog, tswj kev sib npaug, thiab cob qhia koj ua haujlwm txhua hnub ntawm koj tus kheej.
• Cov kev kawm tshwj xeeb: Cov kev kawm tshwj xeeb thiab cov tswv yim yog siv los pab tus menyuam txoj kev loj hlob ntawm lub hlwb thiab kev kawm.
• Tshuaj: Cov tshuaj no muab rau kev tswj cov qaug dab peg.

Ntxiv rau tag nrho cov no, nws tuaj yeem pab tau zoo heev rau koj tsev neeg kom tau txais kev sab laj txog noob caj noob ces . Cov kws sab laj txog noob caj noob ces tuaj yeem pab koj nkag siab zoo dua txog koj tus menyuam qhov mob, thiab qhia koj txog yuav ua li cas txhawb nqa koj tus menyuam thiab cov teeb meem uas lawv yuav ntsib yav tom ntej.

Kuv yuav tsum nrhiav kev kho mob los ntawm cov kws tshwj xeeb twg?

Ib tug me nyuam uas muaj tus mob Wolff-Hirschhorn syndrome yuav tsum tau mus ntsib ntau tus kws tshwj xeeb thoob plaws lawv lub neej thaum yau. Qhov no yog los saib xyuas lawv txoj kev noj qab haus huv thiab seb cov tsos mob cuam tshuam li cas rau lawv lub neej. Tom qab kuaj pom tias muaj tus kab mob, lawv feem ntau yuav tsum tau kuaj mob tas li thiab muab lus qhia los ntawm cov kws tshwj xeeb xws li:

• Kws Kho Mob Hlwb: Tshawb xyuas seb lub hlwb ua haujlwm li cas thiab cov mob xws li qaug dab peg.
• Kws Kho Mob Plawv: Tshawb xyuas seb puas muaj teeb meem plawv.
• Kws Kho Hniav: Ib txwm ua tib zoo saib xyuas kev noj qab haus huv ntawm koj cov hniav.
• Kws Kho Qhov Muag: Saib xyuas cov teeb meem pom kev.

Koj tus kws kho mob thawj zaug, lossis tus kws kho mob hauv tsev neeg, kuj tseem yuav pom zoo kom kuaj ntshav tas li kom paub txog tej yam xws li kev ua haujlwm ntawm koj tus menyuam lub raum thaum lub sijhawm kuaj xyuas txhua xyoo.

Puas muaj ib txoj kev los tiv thaiv qhov teeb meem no?

Raws li peb tau tham ua ntej lawm, Wolff-Hirschhorn syndrome feem ntau yog qhov tshwm sim ntawm kev hloov pauv caj ces "de novo" tshiab . Yog li ntawd, tsis muaj txoj hauv kev los tiv thaiv qhov mob no kom tsis txhob tshwm sim. Txawm li cas los xij, qee zaum, qee tus menyuam tuaj yeem tau txais tus mob no los ntawm lawv niam lawv txiv. Yog tias koj muaj keeb kwm tsev neeg ntawm cov kab mob caj ces, lossis yog tias koj xav paub txog qhov kev pheej hmoo ntawm koj tus menyuam yuav tau txais tus mob caj ces, nws yog qhov zoo tshaj plaws los tham nrog koj tus kws kho mob txog kev kuaj caj ces thiab kev sab laj caj ces .

Yog ib tug me nyuam muaj tus mob Wolff-Hirschhorn syndrome, yuav muaj dab tsi tshwm sim?

Txawm hais tias tam sim no tsis muaj kev kho rau Wolff-Hirschhorn syndrome, kev kho cov tsos mob ntawm tus menyuam tuaj yeem ua rau muaj txiaj ntsig zoo thiab muab kev txhawb nqa uas lawv xav tau los ua lub neej zoo siab thiab noj qab haus huv li sai tau.

Qhov kev kwv yees rau ib tus neeg uas muaj tus mob no nyob ntawm seb lawv cov tsos mob hnyav npaum li cas . Cov tsos mob, tshwj xeeb tshaj yog cov uas cuam tshuam rau lub plawv thiab lub hlwb, tuaj yeem ua rau lub neej luv dua. Txawm li cas los xij, nrog kev kho mob thiab kev saib xyuas zoo, ntau tus menyuam yaus uas yug los nrog tus mob no yuav muaj sia nyob mus txog thaum laus .

Thaum twg koj yuav tsum mus ntsib kws kho mob?

Yog koj tus menyuam muaj cov tsos mob no, mus ntsib kws kho mob tam sim ntawd:

• Ib qho qhov txhab uas tsis tau kho (yog tias qhov txhab tau tawv thiab ntws tawm cov kua ntshiab lossis daj zoo li kua qaub).
• Cov mob khaub thuas ntau zaus (kub taub hau, hnoos, mob caj pas) thiab lawv tsis kho tau yooj yim.
• Cov ntsiab lus tseem ceeb ntawm kev loj hlob qeeb.
• Tsis noj mov tsis tu ncua.
• Lub plawv dhia tsis xwm yeem, ua tsis taus pa, lossis qaug zog heev (cov no yuav yog cov cim qhia txog mob plawv xws li atrial septal defect).

Cov xwm txheej thaum yuav tsum tau nrhiav kev kho mob thaum muaj xwm txheej ceev

Koj tus menyuam uas muaj tus mob Wolf-Hirschhorn syndrome muaj feem yuav mob qaug dab peg . Yog tias muaj mob qaug dab peg, tus menyuam yuav muaj cov hauv qab no:

• Tsis nco qab ib ntus li ntawm 30 vib nas this thiab ob feeb.
• Kev co ntawm ob txhais ceg uas tsis tuaj yeem tswj tau (convulsions).

Yog tias muaj tej yam zoo li no tshwm sim, hu rau 1990 tam sim ntawd lossis coj tus menyuam mus rau Chav Kho Mob Thaum Muaj Xwm Ceev (ETU) uas nyob ze tshaj plaws.

Cov lus nug tseem ceeb uas yuav tsum nug koj tus kws kho mob

Nws yuav nyuaj heev rau nrhiav seb koj tus menyuam muaj mob caj ces zoo li Wolf-Hirschhorn syndrome. Txawm li cas los xij, nws yog ib qho tseem ceeb uas yuav tsum tham txog cov lus nug lossis kev txhawj xeeb uas koj muaj nrog koj tus kws kho mob lub sijhawm no. Koj tuaj yeem nug cov lus nug xws li:

• Puas muaj tej yam tshwm sim tsis zoo rau cov tshuaj uas tau muab rau tus menyuam?
• Kuv tus menyuam tus mob hnyav npaum li cas?
• Kuv yuav tsum ua li cas yog tias kuv tus menyuam lig dhau los ua tiav cov hom phiaj tseem ceeb ntawm kev loj hlob?
• Puas yog kuv tus menyuam yuav tsum tau mus ntsib lwm tus kws tshwj xeeb?
• Peb puas tau txais kev pab tswv yim txog noob caj noob ces? Nws yuav pab tau peb li cas?

Thaum kawg, tej yam koj yuav tsum nco ntsoov

Kev nrhiav pom tias koj tus menyuam muaj mob caj ces zoo li Wolf-Hirschhorn Syndrome tuaj yeem yog ib qho kev paub nyuaj. Tab sis nco ntsoov tias koj tsis yog tib leeg xwb. Txawm hais tias cov tsos mob ntawm tus mob no tuaj yeem hloov pauv lub neej, koj tus kws kho mob yuav muab txoj kev npaj kho mob rau koj. Thiab, ua haujlwm nrog lwm tus kws tshwj xeeb, lawv yuav pab koj tus menyuam ua neej zoo siab thiab noj qab nyob zoo.

Qhov tseem ceeb tshaj plaws yog kom paub zoo txog koj tus menyuam tus mob thiab muab kev txhawb nqa rau nws. Kev txais kev qhia txog noob caj ces kuj yuav muab lub zog loj rau koj hauv txoj kev no. Ua siab tawv ntsib qhov teeb meem no yam tsis ntshai, nrog lub siab tawv. Peb xav kom koj thiab koj tus menyuam muaj hmoo zoo tshaj plaws!

` Wolf-Hirschhorn Syndrome, cov kab mob caj ces, chromosomes, chromosome 4, 4p- syndrome, kev loj hlob qeeb, cov yam ntxwv ntawm lub ntsej muag, qaug dab peg, kev sab laj txog caj ces