Koj tus me nyuam puas muaj tus mob tsis tshua muaj no? Cia peb tham txog Kabuki Syndrome

Koj puas tau hnov ​​txog Kabuki Syndrome? Tej zaum tsis yog. Vim tias nws yog ib qho mob caj ces tsis tshua muaj. Tab sis nws yog ib qho tseem ceeb uas yuav tsum paub txog nws, tshwj xeeb tshaj yog tias koj yog niam txiv. Hais yooj yim, qhov mob no tuaj yeem cuam tshuam rau ntau qhov sib txawv ntawm koj tus menyuam lub cev. Feem ntau, cov menyuam no muaj cov yam ntxwv ntawm lub ntsej muag sib txawv, kev hloov pauv me ntsis hauv lawv lub cev pob txha, qee qhov qeeb hauv kev loj hlob ntawm kev txawj ntse, thiab teeb meem kev loj hlob tom qab yug los. Tab sis tsis yog txhua tus menyuam muaj cov tsos mob no, thiab qhov hnyav ntawm qhov mob tuaj yeem sib txawv ntawm ib tus neeg mus rau ib tus neeg. Cia peb tham txog qhov no kom meej me ntsis, puas yog?

Lub npe "Kabuki" tau los li cas?

Qhov no kuj yog ib zaj dab neeg nthuav heev. Xyoo 1981, ob tug kws tshawb fawb Nyij Pooj tau tshawb pom thawj zaug txog tus mob no hu ua Kabuki Syndrome. Ib tug ntawm lawv hu ua "Kabuki Makeup Syndrome". Qhov laj thawj rau qhov no yog vim tias cov yam ntxwv ntawm lub ntsej muag ntawm ntau tus menyuam uas muaj tus mob no zoo li cov neeg ua yeeb yam hauv "Kabuki" ua yeeb yam, ib qho kev ua yeeb yam Nyij Pooj ib txwm muaj. Xav txog, txoj kev uas cov neeg ua yeeb yam hnav lawv cov plaub muag thiab cov duab ntawm lawv lub qhov muag zoo ib yam li cov yam ntxwv ntawm lub ntsej muag ntawm cov menyuam no. Tab sis tom qab, cov kws tshawb fawb tau tshem tawm lo lus "pleev xim" thiab pib siv lub npe "Kabuki Syndrome". Qee zaum koj kuj tseem yuav hnov ​​​​​​tus mob no hu ua 'Kabuki kab mob', 'KMS' lossis 'Niikawa-Kuroki syndrome'.

Cov tsos mob ntawm Kabuki syndrome yog dab tsi?

Txawm hais tias Kabuki syndrome yog ib yam mob uas muaj txij thaum yug los, koj tus menyuam yuav tsis pom cov tsos mob thaum yug los. Qee zaum nws yuav siv sijhawm ntau xyoo kom cov tsos mob tshwm sim. Nws tseem ceeb heev uas yuav tsum nco ntsoov tias cov tsos mob uas koj tus menyuam muaj thiab lawv qhov hnyav yuav txawv ntawm ib tus neeg mus rau ib tus neeg.

Kabuki syndrome muaj peev xwm cuam tshuam rau ntau yam kabmob thiab cov kab ke hauv lub cev ntawm tus menyuam. Cia peb saib cov tsos mob feem ntau:

Cov yam ntxwv tshwj xeeb ntawm lub ntsej muag

Qhov no yog thawj yam uas ntau tus neeg pom.

• Cov plaub muag nkhaus rau saum thiab sib nrug deb. Tej zaum yuav muaj plaub poob ntawm qhov kawg ntawm cov plaub muag.
• Cov qhov qhib ntawm ob lub qhov muag (palpebral fissures) ntev dhau los ua qhov tsis zoo.
• Lub hau ntawm lub qhov ntswg ua tiaj tus.
• Cov pob ntseg tuaj yeem loj thiab zoo li khob.

Kev hloov pauv hauv lub cev pob txha

Kuj tseem pom qee qhov kev hloov pauv hauv cov pob txha ntawm lub cev.

• Cov teeb meem ntawm tus txha nqaj qaum (xws li scoliosis).
• Tus ntiv tes liab me me no tuaj yeem khoov tau. Qhov no hu ua clinodactyly hauv kev kho mob.
• Cov ntiv tes thiab cov ntiv taw yuav luv (brachydactyly).

Cov yam ntxwv ntsig txog lub paj hlwb

Koj kuj tseem tuaj yeem pom qee yam uas cuam tshuam nrog lub hlwb thiab lub paj hlwb.

• Kev tsis taus ntawm lub hlwb me me lossis nruab nrab.
• Qaug dab peg.
• Kev hais lus qeeb.
• Cov leeg tsis muaj zog (qhov no hu ua "hypotonia"). Qhov no txhais tau tias lub cev xav tias me ntsis qaug zog.

Kev loj hlob thiab teeb meem plab hnyuv

Qhov no tuaj yeem cuam tshuam rau tus menyuam txoj kev loj hlob thiab kev noj zaub mov.

• Qhov siab thiab qhov hnyav tej zaum yuav zoo li qub thaum yug los, tab sis qee qhov teeb meem kev loj hlob yuav tshwm sim thaum muaj hnub nyoog li ntawm 12 lub hlis.
• Lub taub hau loj yuav me dua li qhov nruab nrab.
• Tej zaum yuav muaj teeb meem noj mov thiab nqos.
• Muaj kev pheej hmoo ntawm kev rog dhau thaum koj tseem hluas thiab thaum koj loj hlob tuaj.

Tseem Ceeb: Tsuas yog ib lossis ob qho ntawm cov tsos mob no tsis tas txhais tau tias ib tug me nyuam muaj Kabuki syndrome. Nws yog ib qho tseem ceeb uas yuav tsum nrhiav kev pab kho mob kom paub tseeb tias yog dab tsi.

Lwm cov kab mob thiab cov kab ke uas yuav cuam tshuam

Ntxiv rau cov tsos mob tseem ceeb no, Kabuki syndrome tuaj yeem ua rau muaj ntau yam teeb meem ntxiv.

• Kab mob plawv yug los (kab mob plawv uas muaj thaum yug los).
• Teeb meem ntawm txoj hnyuv (piv txwv li cem quav, mob plab zom mov rov qab los yog khoom noj nkag mus rau hauv caj pas).
• Teeb meem ntawm lub raum thiab kev yug me nyuam.
• Cleft di ncauj thiab/lossis palate.
• Cov qhov muag poob qis los yog cov qhov muag poob qis.
• Muaj qhov sib nrug loj ntawm cov hniav.
• Kev pheej hmoo ntawm kev kis kab mob ntau zaus lossis cov kab mob autoimmune.
• Kev hnov ​​​​lus tsis zoo.
• Kev laus ua ntej yug me nyuam.

Dab tsi ua rau muaj Kabuki syndrome?

Zoo, tam sim no cia peb saib qhov ua rau muaj tus mob no. Kabuki syndrome yog tshwm sim los ntawm kev hloov pauv (variant) hauv ib qho ntawm ob lub noob caj noob ces.

Feem ntau, kwv yees li 75%, nws yog tshwm sim los ntawm kev hloov pauv hauv cov noob hu ua 'KMT2D' (yav tas los hu ua 'MLL2'). Qhov no hu ua Kabuki syndrome hom 1.

Cov seem 3% txog 5% yog tshwm sim los ntawm kev hloov pauv hauv cov noob caj noob ces KDM6A. Qhov no hu ua Kabuki syndrome hom 2.

Hais yooj yim xwb, ob lub noob caj noob ces no qhia peb cov hlwb kom tsim cov enzymes tshwj xeeb. Cov enzymes no hloov cov protein hu ua histones. Cov histones no txuas rau peb cov DNA thiab muab peb cov chromosomes lawv cov duab. Yog li, los ntawm kev hloov cov histones no, cov enzymes ntawd tuaj yeem tswj cov haujlwm ntawm peb cov noob caj noob ces. Cov enzymes no tseem ceeb heev rau kev loj hlob ntawm tus menyuam.

Yog li ntawd, thaum muaj kev hloov pauv hauv cov noob caj noob ces 'KMT2D' lossis cov noob caj noob ces 'KDM6A', cov enzymes no tsis raug tsim tawm. Tom qab ntawd, vim tias lub cev tsis muaj cov enzymes no, cov noob caj noob ces tsis ua haujlwm zoo. Qhov ntawd yog qhov laj thawj rau cov tsos mob thiab kev loj hlob tsis zoo uas pom hauv Kabuki syndrome.

Txawm li cas los xij, qee zaum kuaj pom tias muaj Kabuki syndrome tab sis tsis pom muaj kev hloov pauv hauv ob qho gene. Hauv cov xwm txheej zoo li no, cov kws tshaj lij tseem tsis tuaj yeem qhia meej tias yog vim li cas thiaj muaj tus mob no.

Cov kws kho mob paub qhov no li cas?

Yog koj xav tias koj tus menyuam muaj cov tsos mob no, thawj qhov koj yuav tsum ua yog mus ntsib kws kho mob. Tus kws kho mob yuav nug koj txog keeb kwm kev kho mob ntawm koj tus menyuam thiab kuaj koj tus menyuam. Nws yuav nrhiav seb puas muaj tej yam tshwj xeeb ntawm lub ntsej muag, tej yam tsis zoo ntawm pob txha, lossis tej yam tsis zoo ntawm lub paj hlwb uas cuam tshuam nrog Kabuki syndrome. Nws kuj tseem yuav nug txog keeb kwm kev kho mob ntawm tsev neeg ntawm tus menyuam (tsev neeg keeb kwm).

Kev kuaj mob

Yuav kom paub tseeb tias tus kab mob no tau kuaj pom tseeb, tus kws kho mob yuav kom kuaj cov noob caj noob ces. Qhov no suav nrog kev coj cov ntshav ntawm tus menyuam thiab nrhiav kev hloov pauv ntawm cov noob caj noob ces uas ua rau muaj Kabuki syndrome.

Zoo li kuv tau hais ua ntej lawm, qee tus menyuam uas muaj Kabuki syndrome tej zaum yuav tsis muaj kev hloov pauv hauv ib qho ntawm cov noob caj noob ces no. Hauv cov xwm txheej zoo li no, tus kws kho mob yuav ua lwm yam kev kuaj ntshav lossis kev tshawb nrhiav txog chromosomal kom paub tseeb tias tsis muaj lwm yam mob.

Cov kev kho mob rau Kabuki syndrome yog dab tsi?

Qhov no yuav zoo li tu siab me ntsis, tab sis tsis muaj kev kho rau Kabuki syndrome. Txawm li cas los xij, muaj kev kho mob. Lub hom phiaj tseem ceeb ntawm cov kev kho mob no yog los tswj koj tus menyuam cov tsos mob tshwj xeeb thiab txo qhov kev pheej hmoo ntawm cov teeb meem. Cia peb saib cov kev xaiv kho mob no yog dab tsi:

• Kev pab thaum ntxov: Kev xa ib tug menyuam mus rau cov kev pabcuam txhawb nqa thiab cov kev kawm tshwj xeeb thaum nws tseem hluas yuav pab tau lawv txoj kev loj hlob ntawm lub hlwb.
• Kev kho mob sib koom ua ke ntawm kev xav: Qhov no suav nrog kev qhia tus menyuam kom paub txog ntau yam kev ua ub ua no ntawm kev xav thiab pab lawv tswj hwm lawv cov lus teb rau cov kev xav.
• Kev kho mob sib txawv:
• Kev kho lub cev tuaj yeem ua rau tus menyuam cov leeg nqaij muaj zog.
• Kev kho mob ua haujlwm tuaj yeem pab txhim kho cov txuj ci kev txav mus los me me, xws li kev txav me me ua nrog cov ntiv tes.
• Kev kho mob hais lus tuaj yeem pab txhim kho kev hais lus thiab kev txawj hais lus.
• Cov khoom noj uas tuab thiab/lossis kev ntxig lub raj gastrostomy: Yog tias koj tus menyuam muaj teeb meem noj mov, koj tus kws kho mob yuav qhia cov kev xaiv no.
• Kev kho mob ntxiv rau cov tshuaj hormones loj hlob: Cov menyuam yaus uas tsis muaj cov tshuaj hormones loj hlob thiab lawv lub cev luv luv yuav tau txais txiaj ntsig los ntawm kev kho mob no.
• Cov khoom siv pab hnov ​​lus lossis cov raj sib npaug siab: Yog tias koj hnov ​​lus tsis tau zoo, cov khoom siv no tuaj yeem pab tau.
• Tshuaj: Cov tshuaj siv tau los tswj cov tsos mob xws li qaug dab peg, mob plab zom mov rov qab los, thiab ADHD (kev tsis mloog zoo).
• Kev phais:Muaj tej lub sij hawm uas yuav tsum tau phais rau tej yam xws li scoliosis, kab mob plawv, thiab cleft di ncauj thiab palate.

Kev kho mob tseeb uas koj tus menyuam yuav tau txais yuav nyob ntawm seb qhov twg ntawm lawv lub cev raug mob thiab lawv cov tsos mob. Lawv kuj tseem yuav tsum tau mus ntsib ntau tus kws tshwj xeeb (piv txwv li, tus kws kho mob plawv, tus kws kho mob hlwb, tus kws kho hniav, tus kws kho mob endocrinologist, tus kws kho mob plab hnyuv, tus kws kho mob tiv thaiv kab mob, tus kws kho qhov muag, lossis tus kws kho mob urologist).

Cov kev sim tshuaj thiab lwm yam kev tshawb fawb tam sim no tab tom ua kom nrhiav tau kev kho rau qhov ua rau Kabuki syndrome.

Yog tias kuv tus menyuam muaj Kabuki syndrome, kuv yuav pab nws li cas?

Nws yog ib qho ib txwm muaj uas yuav xav tsis thoob thiab ntshai thaum koj kawm tau ib yam dab tsi zoo li no. Tab sis koj tsis nyob ib leeg. Qhov tseem ceeb tshaj plaws uas koj tuaj yeem ua tau yog kawm ntau li ntau tau txog qhov mob no. Ua haujlwm nrog koj tus menyuam tus kws kho mob kom paub seb koj tuaj yeem ua dab tsi los muab kev saib xyuas zoo tshaj plaws rau koj tus menyuam. Nws kuj tseem yuav pab tau heev los koom nrog cov pab pawg txhawb nqa rau cov tsev neeg ntawm cov menyuam yaus uas muaj cov kab mob tsis tshua muaj. Nyob ntawd koj tuaj yeem qhia kev paub nrog lwm tus niam txiv, nug cov lus nug, thiab nrhiav kev nplij siab.

Lub neej ntev npaum li cas ntawm ib tus neeg uas muaj Kabuki syndrome?

Qhov kev kwv yees thiab lub neej ntev ntawm ib tus neeg uas muaj Kabuki syndrome nyob ntawm seb lawv tus mob hnyav npaum li cas. Txawm hais tias tus kab mob no tuaj yeem cuam tshuam rau ntau qhov ntawm lub cev, nws tsis yog txhua lub sijhawm. Kev kho tus menyuam cov tsos mob tshwj xeeb thiab tiv thaiv cov teeb meem yog qhov tseem ceeb rau kev txhim kho lawv lub neej yav tom ntej.

Cov neeg laus uas muaj tus mob no tuaj yeem ua neej nyob tau ib lub neej zoo li qub. Lawv tuaj yeem ua tej yam txhua hnub thiab ua haujlwm ib nrab sijhawm. Txawm li cas los xij, lawv feem ntau xav tau kev saib xyuas txhawb nqa. Vim tias tus mob no tsis tshua muaj, tsis tau muaj kev tshawb fawb ntau txog lub neej ntev ntawm cov neeg uas muaj Kabuki syndrome. Yog li, nws yog qhov zoo tshaj plaws los nug koj tus menyuam tus kws kho mob txog lawv lub neej ntev raws li lawv tus mob tshwj xeeb.

Thaum kawg, tej yam uas yuav tsum nco ntsoov

Nws yuav ua rau ntshai thaum pom tias koj tus menyuam muaj mob caj ces. Txawm li cas los xij, cov tsos mob, kev kho mob, thiab kev kwv yees ntawm Kabuki syndrome sib txawv ntawm ib tus neeg mus rau ib tus neeg. Tham nrog koj tus menyuam tus kws kho mob kom paub ntau ntxiv txog koj tus menyuam tus mob tshwj xeeb. Nws tuaj yeem pab koj ntawm txoj kev taug kev no. Cov pab pawg txhawb nqa rau cov tsev neeg uas cuam tshuam los ntawm cov mob caj ces tsis tshua muaj kuj tuaj yeem yog qhov chaw zoo ntawm lub zog. Lawv tuaj yeem teb koj cov lus nug thiab muab kev cia siab rau koj tus menyuam tus mob. Tsis txhob xav tias koj nyob ib leeg. Tsis txhob yig kom tau txais kev pab uas koj xav tau.

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