Koj tus me nyuam puas muaj cov kev hloov pauv no ntawm lawv lub ntsej muag? Cia peb tham txog Van der Woude Syndrome!

Koj tus menyuam puas muaj qhov me me ntawm nws daim di ncauj qis? Los yog nws puas muaj daim di ncauj tawg lossis lub qhov ncauj qab nthab? Qee zaum koj tuaj yeem pom ib tug hniav ploj lawm? Nws yog ib qho ib txwm muaj rau koj, ua ib tug niam lossis ib tug txiv, kom ntshai thiab txhawj xeeb heev thaum koj pom cov no. Tab sis tsis txhob txhawj. Hnub no peb yuav tham txog qhov ua rau muaj cov no thiab yuav ua li cas rau lawv. Thaum koj paub txog qhov no, koj yuav xav tias zoo siab heev.

Van der Woude Syndrome yog dab tsi?

Hais yooj yim xwb, Van der Woude Syndrome yog ib yam mob uas tsis tshua muaj, uas tau txais los ntawm noob caj ces uas cuam tshuam rau txoj kev loj hlob ntawm tus menyuam lub qhov ncauj thaum lawv tseem nyob hauv plab. Cov menyuam uas muaj tus mob no muaj cov qhov me me (qhov ncauj) ntawm lawv daim di ncauj qis. Qee zaum cov qhov no yuav tsa me ntsis. Lawv kuj tseem yuav muaj daim di ncauj tawg, qhov ncauj tawg, lossis ob qho tib si. Ib txhia menyuam kuj tseem yuav muaj qee cov hniav uas tseem tsis tau loj hlob.

Cov kws kho mob qee zaum hu qhov mob no ua "lip pit syndrome." Tus kws kho mob Fabkis J. Demarquay tau piav qhia thawj zaug txog nws nyob ib puag ncig xyoo 1845. Txawm li cas los xij, nws tau muab lub npe "Vander Woude" los ua kev hwm rau Dr. Anne Van der Woude, uas tau kawm txog nws ntau heev thaum ntxov xyoo 1950.

Cleft Lip thiab Cleft Palate yog dab tsi?

Cia peb tham meej meej. Qhov mob ntawm daim di ncauj thiab lub qhov ncauj tawg yog qhov teeb meem uas tshwm sim thaum yug los thaum lub sijhawm loj hlob ntawm tus menyuam hauv plab. Tus menyuam muaj peev xwm muaj ib qho lossis ob qho tib si ntawm cov mob no.

• Cleft Di ncauj: Qhov no yog thaum ob sab ntawm koj tus menyuam daim di ncauj sab saud tsis sib dhos zoo. Qhov no tuaj yeem ua rau muaj qhov sib txawv me me lossis tawg ntawm daim di ncauj sab saud. Qhov no kuj tseem tuaj yeem cuam tshuam rau cov pos hniav.
• Cleft Palate: Qhov no yog thaum ib tug me nyuam muaj qhov sib txawv lossis faib rau hauv lub ru tsev ntawm lawv lub qhov ncauj, txawm tias nyob rau hauv pem hauv ntej ntawm lub palate, uas yog ib feem ntawm pob txha, lossis nyob rau hauv ib feem ntawm lub palate, uas yog ib feem ntawm cov nqaij mos, lossis ob qho tib si.

Van der Woude Syndrome muaj ntau npaum li cas?

Qhov no yeej yog ib qho mob uas tsis tshua muaj. Yog koj saib thoob plaws ntiaj teb, qhov mob no tsuas cuam tshuam li ib ntawm 35,000 txog 100,000 tus neeg xwb. Yog li koj tuaj yeem pom tias qhov no tsis tshua muaj.

Vim li cas ho ua li no?

Tam sim no cia peb saib seb dab tsi ua rau muaj Vander Wood Syndrome. Qhov laj thawj tseem ceeb rau qhov no yog kev hloov pauv caj ces.

Txhua yam hauv peb lub cev raug tswj hwm los ntawm cov lus qhia me me. Qhov no yog qhov peb hu ua 'genes'. Nws zoo li ib daim ntawv qhia ua zaub mov. Yog li, ib qho gene tshwj xeeb hu ua 'IRF6' (Interferon Regulatory Factor 6) koom nrog Vander Wood syndrome.Tus gene 'IRF6' no ua haujlwm zoo li ib tug 'engineer' uas tsim tej yam xws li lub taub hau, lub ntsej muag, daim tawv nqaij, thiab qhov chaw mos ntawm tus menyuam. Nws yog tus uas ua cov khoom xyaw 'protein' uas xav tau rau cov no kom loj hlob zoo.

Tam sim no xav txog, yuav ua li cas yog tias muaj kev hloov me ntsis, lossis peb tuaj yeem hais tias 'kev hloov pauv', hauv cov lus qhia uas 'engineer' no ua haujlwm nrog, hauv 'IRF6' gene? Cov khoom xyaw 'protein' ntawd tsis tau tsim tawm hauv qhov ntau uas xav tau. Qhov ntawd yog thaum qee qhov ntawm tus menyuam lub ntsej muag, tshwj xeeb tshaj yog daim di ncauj thiab lub qhov ncauj, tsis loj hlob zoo. Koj puas nkag siab?

Cov menyuam yaus uas muaj tus mob no tau txais cov noob caj noob ces 'IRF6' uas tau hloov pauv los ntawm ib tug niam txiv xwb, yog leej niam lossis leej txiv. Thaum cov kws tshawb fawb txuas ntxiv tshawb nrhiav qhov no, tej zaum yuav muaj ntau cov noob caj noob ces uas koom nrog yav tom ntej.

Leej twg muaj feem yuav muaj qhov teeb meem no ntau dua?

Vander Wood syndrome yog ib qho mob autosomal dominant disorder . Hais yooj yim xwb, qhov no txhais tau tias yog niam txiv muaj qhov gene mutation uas ua rau muaj tus kab mob no, tus menyuam yuav tau txais nws los ntawm kev yug los.

Qhov no txhais tau tias yog niam txiv muaj qhov kev hloov pauv ntawm cov noob caj ces, txhua tus menyuam uas lawv muaj muaj 50% feem pua ​​​​​​ntawm kev tau txais tus mob no. Feem ntau, niam txiv uas tau txais cov noob caj ces kuj muaj tus mob no thiab. Txawm li cas los xij, tsis tshua muaj, tus menyuam tuaj yeem tau txais qhov kev hloov pauv ntawm cov noob caj ces thiab tsis qhia cov tsos mob ntawm Vander Wood syndrome.

Cov tsos mob ntawm tus mob no yog dab tsi?

Muaj ntau yam tsos mob tseem ceeb ntawm Vander Wood Syndrome, uas peb yuav tsum paub txog.

• Cleft di ncauj, cleft palate, lossis ob qho tib si: Qhov no yog qhov tseem ceeb tshaj plaws thiab pom tseeb tshaj plaws.
• Cov qhov me me los yog cov pob me me ntawm daim di ncauj: Tej zaum yuav muaj cov qhov me me los yog cov pob me me ntawm ib sab lossis ob sab ntawm daim di ncauj qis. Qee zaum yuav muaj ib lossis ntau dua ntawm cov no.
• Daim di ncauj qis ntub: Vim tias cov 'qhov di ncauj' no txuas nrog cov qog salivary lossis cov qog mucus, daim di ncauj qis yuav ib txwm zoo li ntub thiab ntub.
• Cov hniav ploj (hypodontia) lossis teeb meem nrog cov hniav enamel (dental hypoplasia): Ib txhia menyuam yaus yuav ploj ib lossis ntau cov hniav tas mus li. Lawv kuj tseem yuav muaj qee qhov teeb meem nrog kev loj hlob ntawm cov enamel, uas yog cov txheej sab nraud tiv thaiv ntawm cov hniav.

Vim muaj tus mob no, yuav muaj teeb meem dab tsi tshwm sim?

Tej tus menyuam uas muaj tus kab mob Vander Wood kuj yuav muaj lwm yam teeb meem, tab sis tsis yog txhua tus muaj cov no.

• Kev loj hlob qeeb: Qee tus menyuam yuav muaj kev qeeb me ntsis hauv lawv txoj kev loj hlob tag nrho.
• Kev puas tsuaj me ntsis ntawm kev xav: Tej zaum yuav muaj qee qhov kev puas tsuaj me ntsis ntawm kev kawm.
• Kev hais lus qeeb thiab lus tsis zoo: Teeb meem nrog daim di ncauj thiab lub qhov ncauj tuaj yeem ua rau muaj kev qeeb hauv kev hais lus thiab kev loj hlob lus.

Koj puas paub qhov no thaum tus menyuam tseem nyob hauv plab?

Yog, qee zaum nws ua tau.

Kev kuaj ultrasound thaum tus menyuam tseem nyob hauv plab qee zaum tuaj yeem pom daim di ncauj tawg thiab, tsis tshua muaj, qhov ncauj tawg. Kuj tseem muaj kev kuaj tshwj xeeb los xyuas seb puas muaj kev hloov pauv ntawm IRF6 gene. Cov no hu ua kev kuaj ua ntej yug menyuam.

• Kev kuaj mob Chorionic villus (CVS): Qhov no suav nrog kev coj ib qho qauv me me ntawm cov ntaub so ntswg los ntawm lub placenta thiab kuaj nws.
• Kev kuaj mob amniocentesis los ntawm noob caj noob ces: Qhov no suav nrog kev coj cov kua dej amniotic uas nyob ib puag ncig tus menyuam thiab kuaj nws cov noob caj noob ces.

Cov kev kuaj no tuaj yeem lees paub seb puas muaj kev hloov pauv caj ces.

Qhov no txiav txim siab li cas tom qab tus menyuam yug los?

Yog tias koj tus menyuam muaj daim di ncauj tawg, lub qhov ncauj tawg, lossis qhov ncauj tom qab yug los, koj tus kws kho mob yuav pom zoo kom kuaj cov noob caj noob ces . Qhov no feem ntau ua los ntawm kev kuaj ntshav. Qhov kev kuaj no yuav txiav txim siab seb koj puas muaj qhov kev hloov pauv noob caj noob ces IRF6 uas ua rau muaj Vander Wood syndrome. Qee zaum koj thiab koj tus khub yuav raug hais kom kuaj cov noob caj noob ces no kom nkag siab txog keeb kwm noob caj noob ces ntawm koj tsev neeg.

Yuav kho qhov no li cas?

Txoj kev kho mob tseem ceeb rau tus mob no yog phais . Tsis txhob txhawj, qhov kev phais no tam sim no tau ua tiav heev lawm.

• Yuav tsum tau phais kom kaw qhov sib nrug ntawm daim di ncauj tawg thiab lub qhov ncauj tawg, uas yog, kho lawv.
• Feem ntau, kev phais mob daim di ncauj tawg yog ua thaum tus menyuam muaj hnub nyoog ntawm 2 thiab 6 lub hlis .
• Feem ntau , kev phais kho qhov ncauj tawg feem ntau ua tom qab, uas yog, thaum tus menyuam muaj hnub nyoog ntawm 9 thiab 18 lub hlis .
• Yog koj muaj cov qhov "di ncauj" uas peb tau tham txog, kev phais mob yog ua kom tshem tawm lawv thiab tiv thaiv cov qaub ncaug thiab cov hnoos qeev kom tsis txhob ntws mus rau hauv daim di ncauj. Kev phais mob no qee zaum tuaj yeem ua tau tib lub sijhawm nrog kev phais mob los kho "diab cleft" lossis "cleft palate".

Muaj lwm yam kev kho mob dab tsi ntxiv?

Ntxiv rau kev phais mob, muaj lwm yam kev kho mob uas tuaj yeem pab tus menyuam.

• Teeb Meem Kev Pub Noj: Cov menyuam mos uas muaj daim di ncauj tawg lossis lub qhov ncauj tawg yuav muaj teeb meem nqus thiab noj mov kom txog thaum phais. Yog tias qhov no tshwm sim, koj yuav tsum mus ntsib kws noj zaub mov lossis kws kho kev hais lus kom tau txais cov lus qhia txog lub raj mis pub mis tshwj xeeb thiab cov txheej txheem pub mis.
• Kev Kho Mob Hais Lus: Tej zaum yuav muaj ib txhia menyuam yaus uas tseem muaj teeb meem hais lus tom qab phais lawm. Kev kho mob hais lus yuav pab tau zoo heev rau cov xwm txheej zoo li no.
• Kev kho hniav:Txawm koj cov hniav ploj lawm los yog muaj teeb meem nrog koj cov hniav enamel, nws yog ib qho tseem ceeb uas yuav tsum tau mus ntsib kws kho hniav tshwj xeeb thiab saib xyuas koj cov hniav thiab cov pos hniav kom zoo. Tej zaum koj kuj yuav tsum tau muaj cov hniav cuav lossis kev kho hniav kom hloov cov hniav uas ploj lawm.

Puas tuaj yeem tiv thaiv Van der Woude Syndrome?

Qhov no yog ib qho mob uas los ntawm noob caj ces, yog li ntawd nws nyuaj rau tiv thaiv nws tag nrho. Txawm li cas los xij, yog tias koj paub tias koj lossis koj tus khub muaj qhov kev hloov pauv ntawm noob caj ces uas ua rau nws, nws yog ib lub tswv yim zoo kom mus ntsib tus kws pab tswv yim txog noob caj ces ua ntej koj muaj menyuam.

Ib tug kws pab tswv yim txog caj ces tuaj yeem piav qhia rau koj txog qhov kev pheej hmoo ntawm kev xa cov kev hloov pauv caj ces no mus rau cov tiam neeg tom ntej, thiab cov hau kev twg tuaj yeem siv los txo qhov kev pheej hmoo ntawd (piv txwv li, tej yam zoo li 'PGD' - 'Preimplantation Genetic Diagnosis', uas ua tiav nrog cov thev naus laus zis zoo li 'IVF').

Yav tom ntej ntawm ib tug neeg uas muaj tus mob no yuav zoo li cas?

Qhov no yuav zoo li txaus ntshai, tab sis feem ntau, qhov mob no tuaj yeem kho tau zoo. Kev phais kom kho daim di ncauj tawg thiab daim di ncauj tawg yog qhov ua tau zoo heev. Muaj ntau yam koj tuaj yeem ua tau hauv tsev los pab koj tus menyuam rov zoo sai tom qab phais.

Feem ntau cov menyuam yaus ua tau zoo tom qab phais thiab ua neej nyob zoo li qub, puv npo zoo li lwm cov menyuam yaus. Yog tias lawv muaj teeb meem hais lus, kev kho kev hais lus tuaj yeem pab tau. Yog li nws tseem ceeb heev kom muaj kev cia siab.

Thaum twg koj yuav tsum mus ntsib kws kho mob?

Yog koj tus menyuam muaj ib qho teeb meem hauv qab no, mus ntsib kws kho mob tam sim ntawd:

• Ua pa nyuaj
• Nyuaj noj mov
• Nyuaj hais lus
• Nyuaj nqos

Yog koj muaj cov no, nws yog ib qho tseem ceeb heev uas yuav tsum nrhiav kev pab kho mob tam sim ntawd.

Koj yuav tsum nug koj tus kws kho mob li cas?

Thaum koj mus ntsib kws kho mob, koj tuaj yeem nug cov lus nug no:

• Ua cas kuv tus menyuam thiaj muaj tus mob Vander Wood syndrome?
• Puas yog kuv tus menyuam yuav tsum tau phais? Yog tias yog, yuav ua thaum twg?
• Muaj lwm yam kev kho mob dab tsi uas yuav pab tau kuv tus menyuam?
• Kuv ua tau dab tsi hauv tsev los pab nrog teeb meem kev noj mov thiab kev hais lus?
• Kuv tus txiv thiab kuv puas yuav tsum tau kuaj noob caj noob ces?
• Kuv puas yuav tsum paub txog cov tsos mob ntawm cov teeb meem?

Nug cov lus nug no thiab ua kom meej txhua yam uas nyob hauv koj lub siab.

Qhov txawv ntawm Van der Woude Syndrome thiab Popliteal Pterygium Syndrome yog dab tsi?

Qhov no kuj nyuaj me ntsis, tab sis nws zoo kom paub luv luv.

Kab mob Popliteal Pterygium Syndrome (PPS) kuj yog ib qho mob autosomal dominant. Ib yam li Vander Wood Syndrome, nws yog tshwm sim los ntawm kev hloov pauv hauv tib lub gene, IRF6. Txawm li cas los xij, PPS feem ntau dua li Vander Wood Syndrome.Tsis tshua muaj (tsuas yog cuam tshuam rau ib tus neeg ntawm 300,000 tus neeg hauv ntiaj teb cov pej xeem).

Ntxiv rau cov tsos mob ntawm Vander Wood syndrome, xws li daim di ncauj tawg, lub qhov ncauj tawg, thiab qhov ncauj qhov, ib tug me nyuam uas muaj 'PPS' yuav muaj ntau lwm yam tsos mob:

• Tej zaum yuav muaj cov nqaij ntau dhau txuas ntawm ob sab ntawm daim tawv muag sab saud thiab sab hauv qab, lossis ntawm ob lub puab tsaig.
• Tej zaum yuav muaj daim tawv nqaij zawm rau saum cov ntiv taw loj.
• Cov ntxhais hluas lub labia majora, uas yog sab nraud ntawm lub qhov chaw mos, tsis loj hlob zoo.
• Cov noob qes ntawm cov tub hluas tsis tau nqis los.
• Tej zaum yuav muaj cov tawv nqaij tom qab lub hauv caug lossis ntawm cov ntiv tes lossis cov ntiv taw (tseem hu ua syndactyly).

Thaum kawg, yuav tsum nco ntsoov li cas (Cov Lus Coj Mus Tsev)

Nws yog ib qho ib txwm muaj uas yuav tu siab, txhawj xeeb, thiab txawm npau taws thaum koj pom tias koj tus menyuam muaj lub ntsej muag txawv txawv, xws li 'qhov ncauj tawg', 'qhov ncauj tawg', lossis 'qhov ncauj tawg'. Ua ib tug niam txiv, tsis muaj dab tsi tsis ncaj ncees lawm nrog kev xav li ntawd.

Tiam sis qhov tseem ceeb yog tias ntau yam mob no tuaj yeem kho tau zoo. Kev phais mob tuaj yeem kho tau ntau yam kev hloov pauv ntawm lub cev no, pab koj tus menyuam loj hlob zoo, ua si nrog lwm tus, kawm, thiab ua lub neej ib txwm muaj.

Yog koj tus menyuam muaj teeb meem noj mov lossis hais lus tsis tau, koj tuaj yeem nrhiav kev pab tshwj xeeb. Yog tias muaj teeb meem hniav, nws yog ib qho tseem ceeb uas yuav tsum nrhiav kev pab tswv yim txog hniav tsis tu ncua.

Yog tias koj tus menyuam muaj tus kab mob Vander Wood syndrome, nws yog ib qho tseem ceeb uas yuav tsum mus ntsib tus kws pab tswv yim txog kev hloov pauv ntawm cov noob caj ces los tham txog seb qhov kev hloov pauv ntawm cov noob caj ces uas ua rau nws yuav cuam tshuam li cas rau cov neeg yav tom ntej thiab koj cov kev xaiv yog dab tsi. Koj tsis yog tib leeg xwb, thiab muaj ntau tus kws kho mob, kws kho mob hlwb, thiab cov kws pab tswv yim uas tuaj yeem pab koj ntawm txoj kev no.

` Van der Woude Syndrome, qhov ncauj qhov, daim di ncauj cleft, cleft palate, IRF6 gene, kev hloov pauv caj ces, cov teeb meem yug los tsis zoo, kev phais, kev noj qab haus huv ntawm menyuam yaus, kev sab laj txog caj ces