Koj puas paub txog Koolen-de Vries Syndrome? Cia peb tham txog nws!

Koj tus me nyuam puas lig dua li lwm tus menyuam thaum zaum, tham, lossis taug kev? Nws yog ib qho ib txwm rau cov niam txiv kom xav tias me ntsis txhawj xeeb thiab ntxhov siab thaum lawv pom tej yam zoo li no. Tab sis tsis yog txhua qhov kev ncua yog teeb meem loj. Txawm li cas los xij, nws yog ib qho tseem ceeb kom paub txog qee yam mob tsis tshua muaj uas yog los ntawm cov yam ntxwv caj ces. Piv txwv li, Koolen-de Vries Syndrome yog ib yam mob uas peb tsis hnov ​​txog txhua hnub, tab sis nws tsim nyog paub txog. Cia peb tham txog nws yooj yim, hauv txoj kev uas koj tuaj yeem nkag siab.

Koolen-de Vries Syndrome yog dab tsi?

Hais yooj yim xwb, Kuhlman-de Vries Syndrome (KdVS) yog ib yam mob caj ces tsis tshua muaj. Nws muaj feem cuam tshuam nrog cov chromosomes hauv peb lub cev. Yog hais kom meej, nws yog tshwm sim los ntawm kev hloov pauv me me hauv peb tus lej chromosome 17. Cov mob no tuaj yeem ua rau kev loj hlob qeeb , qee qib kev tsis taus ntawm kev txawj ntse, thiab qee yam tshwj xeeb ntawm lub ntsej muag .

Tej zaum koj yuav pom qhov mob no thaum koj tus menyuam zaum nws tus kheej lig dua li lwm tus menyuam hnub nyoog li lawv, hais lus thawj zaug lig dua, lossis siv sijhawm ntev dua los ua thawj kauj ruam. Lwm lub npe rau qhov mob no yog '17q21.31 microdeletion syndrome.' Txawm hais tias lub npe yuav zoo li nyuaj me ntsis, cia peb saib ze dua txog nws lub ntsiab lus.

Qhov tseem ceeb yog tias txawm hais tias cov tsos mob no yuav txawv ntawm ib tug me nyuam mus rau ib tug me nyuam, nws yog ib qho tseem ceeb ntawm tus mob no uas cov me nyuam no feem ntau zoo siab thiab phooj ywg . Qhov ntawd yog ib qho zoo tiag tiag. Txawm li cas los xij, lawv yuav xav tau kev pab kho mob thiab kev txhawb nqa thoob plaws lawv lub neej kom tswj tau qee cov tsos mob ntxiv.

Cov tsos mob uas pom tau hauv tus mob no yog dab tsi?

Txawm hais tias cov tsos mob pom hauv cov menyuam yaus uas muaj Kuhlman-de Vries syndrome (KdVS) yuav txawv ntawm ib tus neeg mus rau lwm tus, muaj qee yam ntxwv zoo sib xws.

Cov tsos mob uas pom ntau zaus:

• Kev loj hlob qeeb: Qhov no yog ib qho tsos mob loj heev. Qhov no txhais tau tias tej yam xws li kev nkag, zaum, taug kev, thiab tham lus yuav lig dua li lwm tus menyuam uas muaj hnub nyoog zoo sib xws.
• Kev tsis taus ntawm lub hlwb me me mus rau nruab nrab: Tej zaum yuav xav tau sijhawm ntxiv me ntsis thiab kev pab kom kawm thiab nkag siab txog tej yam tshiab.
• Cov leeg nqaij tsis muaj zog (hypotonia): Yog hais kom meej, cov leeg nqaij hauv lub cev yuav zoo li xoob me ntsis thiab tsis khov kho. Qhov no ua rau nws nyuaj rau ua qee yam kev txav mus los.
• Kab mob ntuav ib ntus: Tej tus menyuam yaus yuav ntuav tas li ob peb hnub yam tsis muaj laj thawj pom tseeb. Qhov no yuav rov tshwm sim dua ib ntus.

Lwm cov tsos mob uas qee tus menyuam yuav muaj:

Ntxiv rau cov tsos mob tseem ceeb no, qee tus menyuam yaus kuj yuav muaj lwm yam teeb meem.

• Nyuaj siab noj mov rau cov menyuam mos: Muaj teeb meem haus thiab nqos zaub mov, tshwj xeeb tshaj yog thaum lawv tseem yog menyuam yaus.
• Kev tsis zoo ntawm lub plawv, lub zais zis lossis lub raum: Tej zaum yuav muaj qee yam tsis zoo ntawm lub plawv, lub zais zis lossis lub raum.
• Scoliosis: Ib qho mob uas tus txha nqaj qaum nkhaus rau ib sab.
• Cov mob qaug dab peg/ Qaug dab peg : Tej zaum yuav muaj cov mob uas zoo li mob raws plab.
• Cov noob qes tsis nqis los: Ib qho mob uas cov noob qes ntawm cov menyuam tub tsis nqis tag nrho los ntawm lub plab mus rau hauv lub scrotum.

Tus cwj pwm thiab tus cwj pwm ntawm tus menyuam

Cov menyuam yaus uas muaj Koolen-de Vries Syndrome feem ntau pom tias lawv zoo siab thiab phooj ywg heev . Lawv nyiam sib tham heev. Txawm li cas los xij, qee zaum lawv kuj tseem yuav muaj cov mob xws li Attention-Deficit/Hyperactivity Disorder (ADHD) lossis cov mob neurodevelopmental thiab behavioral xws li Autism Spectrum Disorder .

Cov yam ntxwv tshwj xeeb uas pom tau ntawm lub ntsej muag ntawm cov menyuam yaus uas muaj Koolen-de Vries Syndrome

Cov menyuam yaus uas muaj tus mob no yuav muaj qee yam tshwj xeeb ntawm lub ntsej muag. Tab sis nco ntsoov, tsuas yog vim koj muaj ib lossis ob yam ntawm cov yam ntxwv no tsis tau txhais hais tias koj muaj tus kab mob. Cov no yuav tsum tau kuaj xyuas los ntawm kws kho mob.

• Lub ntsej muag ntev
• Lub hauv pliaj loj
• Lub qhov ntswg zoo li txiv pear
• Qhov muag poob qis (ptosis)
• Pob ntseg loj, tawm los
• Ib qho tsos ntawm sab nraud ntawm lub qhov muag uas taw rau sab saud
• Ib daim tawv nqaij uas npog cov ces kaum sab hauv ntawm lub qhov muag (epicanthal folds)

Cov tsos mob no tsis tshwm sim tib yam rau txhua tus menyuam. Tej zaum ib txhia menyuam yuav muaj ntau yam tsos mob no, thaum lwm tus yuav muaj tsawg dua.

Dab tsi ua rau Koolen-de Vries Syndrome?

Tam sim no cia peb saib seb dab tsi ua rau muaj tus mob no. Koolen-de Vries Syndrome yog tshwm sim los ntawm kev hloov pauv lossis kev rho tawm tag nrho ntawm cov noob 'KANSL1' nyob ntawm chromosome 17.

Xav txog nws, txhua lub cell hauv peb lub cev muaj chromosomes. Cov chromosomes no nqa cov noob caj noob ces uas txiav txim txhua yam los ntawm peb qhov tsos mus rau peb tus cwj pwm. Feem ntau, peb muaj ob daim qauv ntawm txhua chromosome, ib daim los ntawm peb niam thiab ib daim los ntawm peb txiv.

Los ntawm cov menyuam yaus uas muaj tus mob Kuhlman-de Vries (KdVS)Feem coob (kwv yees li 95%) muaj ib daim qauv ntawm cov noob 'KANSL1' uas ploj lawm ntawm lawv tus lej chromosome 17. Qhov no hu ua 'microdeletion' , uas txhais tau tias ib feem me me ntawm cov noob ploj lawm. Cov neeg tsawg uas tseem tshuav muaj cov noob 'KANSL1', tab sis nws muaj qhov sib txawv uas tiv thaiv cov noob kom tsis txhob ua haujlwm zoo.

Lub luag haujlwm ntawm lub noob caj noob ces 'KANSL1'

Cov noob caj noob ces 'KANSL1' no tseem ceeb heev. Vim nws tsim cov protein uas pab tswj hwm seb lwm cov noob caj noob ces ua haujlwm li cas. Qhov no tshwm sim los ntawm kev hloov cov khoom hu ua 'chromatin' . 'Chromatin' yog kev sib xyaw ua ke ntawm cov protein thiab 'DNA' . Qhov no yog qhov ua rau 'DNA' ntim rau hauv chromosomes. Yog li koj tuaj yeem pom tias cov noob caj noob ces 'KANSL1' tseem ceeb npaum li cas rau kev loj hlob thiab kev ua haujlwm ntawm ntau qhov chaw thiab cov kab ke hauv peb lub cev.

Qhov mob no puas yog los ntawm noob caj noob ces? (Kev txais qub txeeg qub teg)

Cullen-de Vries syndrome (KdVS) yog ib yam mob uas tuaj yeem tau txais los ntawm noob caj noob ces ua "autosomal dominant" . Hais yooj yim xwb, yog tias ib tug me nyuam tau txais qhov kev hloov pauv caj ces no los ntawm ib tug niam txiv xwb, tus me nyuam yuav muaj tau qhov mob no. Nws cuam tshuam txog ib qho kev hloov pauv caj ces lossis kev tshem tawm hauv txhua lub cell.

Txawm li cas los xij, nws tsis yog ib yam dab tsi uas tau txais los ntawm niam txiv tas li. Qee zaum, tus mob no tuaj yeem tshwm sim yam tsis tau npaj tseg, de novo. Qhov no txhais tau tias tsis muaj leej twg hauv tsev neeg tau muaj tus mob no ua ntej, thiab kev hloov pauv caj ces tuaj yeem tshwm sim thawj zaug thaum lub sijhawm loj hlob ntawm cov qe menyuam ntawm tus menyuam, lossis thaum lub sijhawm ntxov ntawm lub embryo. Yog li ntawd, nws muaj peev xwm rau tus menyuam kom loj hlob nws txawm tias tsis muaj leej twg hauv tsev neeg tau muaj tus mob no.

Cov kws kho mob kuaj mob li cas?

Yog koj xav tias koj tus menyuam muaj tus mob no, thawj qhov uas tus kws kho mob yuav ua yog kuaj koj tus menyuam kom zoo zoo thiab nug koj txog cov tsos mob. Qhov no yuav pab koj nkag siab zoo dua txog koj tus menyuam txoj kev loj hlob thiab tus cwj pwm.

Tom qab ntawd, txhawm rau kom paub tseeb tias qhov mob no yog dab tsi, yuav tsum tau kuaj noob caj noob ces. Nyob ntawm seb hom kev hloov pauv noob caj noob ces yog dab tsi, hom kev kuaj uas ua yuav txawv.

• Chromosome microarray: Qhov kev kuaj no tuaj yeem ntes tau seb ib feem ntawm chromosome puas ploj lawm. Qhov no pab ntes tau 'microdeletion' uas peb tau tham txog ua ntej.
• Kev txheeb xyuas cov noob caj noob ces: Qhov no tuaj yeem ntes tau qhov sib txawv me me hauv KANSL1 gene nws tus kheej.

Vim tias tsis yog txhua tus menyuam uas muaj tus kab mob Kuhlman-de Vries syndrome (KdVS) muaj cov tsos mob zoo ib yam, cov kws kho mob yuav pom zoo kom kuaj ntxiv kom nkag siab zoo dua txog tus menyuam tus mob. Piv txwv li:

• Kev ntsuam xyuas kev loj hlob: Qhov no ntsuam xyuas tus menyuam txoj kev loj hlob thiab cov txuj ci.
• Echocardiogram: Tshuaj xyuas qhov ua haujlwm thiab cov qauv ntawm lub plawv.
• Kev ntsuam xyuas kev noj mov: Qhov no yuav saib txhua yam teeb meem nrog kev noj mov lossis haus dej.
• Kev kuaj mob ultrasound ntawm lub raum: Tshawb xyuas seb puas muaj teeb meem nrog lub raum.
• Kev Ntsuas Duab Sib Nqus (MRI): Thaij cov duab kom ntxaws ntawm cov kabmob sab hauv, xws li lub hlwb.
• X-rays: Nrhiav cov teeb meem nrog cov pob txha, xws li scoliosis.

Tsis yog txhua tus neeg yuav tsum tau kuaj tag nrho cov no. Cov kws kho mob txiav txim siab seb yuav kuaj twg raws li tus menyuam cov tsos mob thiab kev xav tau.

Cov kev kho mob rau Koolen-de Vries Syndrome yog dab tsi?

Tam sim no tsis muaj tshuaj kho tau tus kab mob Koolen-de Vries Syndrome. Qhov no yog vim nws yog ib yam mob uas los ntawm noob caj noob ces. Txawm li cas los xij, muaj ntau yam kev kho mob thiab kev tswj hwm uas tuaj yeem pab tus menyuam tswj hwm lawv cov tsos mob, txhim kho lawv lub neej zoo, thiab pab lawv loj hlob mus rau lawv lub peev xwm tag nrho. Cov kev kho mob no yog tsim los rau tus menyuam cov kev xav tau.

Kev Kho Mob

Cov kws kho mob feem ntau pom zoo ntau hom kev kho mob sib txawv:

• Kev Kho Mob Ua Haujlwm: Qhov no pab tus menyuam txhim kho cov txuj ci kev txav mus los (piv txwv li, khawm khawm, sau ntawv) thiab cov txuj ci kev txav mus los loj (piv txwv li, khiav thiab dhia) uas xav tau los ua cov haujlwm txhua hnub.
• Kev Kho Mob Lub Cev: Tus kws kho mob lub cev pab txhawb nqa cov leeg ntawm tus menyuam, txhim kho kev sib npaug, thiab pab txhawb kev txav mus los xws li kev taug kev. Qhov no tseem ceeb heev rau cov menyuam uas muaj mob hu ua "hypotonia."
• Kev Kho Mob Hais Lus: Qhov no pab kov yeej cov teeb meem hauv kev hais lus thiab kev qhia tawm cov tswv yim. Cov kws kho mob hais lus siv ntau txoj kev xws li duab, lus piav tes, thiab cov cuab yeej hais lus.

Lwm yam kev kho mob thiab kev cuam tshuam

Nyob ntawm seb tus menyuam cov tsos mob li cas, tej zaum yuav xav tau kev kho mob ntxiv:

• Tshuaj Tiv Thaiv Kev Qaug Dab Peg: Cov menyuam yaus uas muaj kev qaug dab peg yuav tsum tau muab tshuaj los tswj lawv.
• Kev Muab Ib Lub Raj Mis Pub Rau Cov Neeg Uas Muaj Teeb Meem Kev Noj Haus: Cov menyuam yaus uas muaj teeb meem nqos lossis haus zaub mov thiab haus dej yuav tsum muab ib lub raj mis pub rau hauv lub qhov ntswg lossis lub plab ncaj qha mus rau hauv lub plab kom muab cov khoom noj khoom haus uas tsim nyog.
• Kev Phais Mob: Tej zaum yuav tsim nyog phais mob rau cov mob xws li scoliosis lossis noob qes tsis nqis.

Kev kawm ntawv thiab kev txhawb nqa

Cov menyuam yaus yuav xav tau kev txhawb nqa sib txawv thaum nws los txog rau kev kawm. Ib txhia menyuam kawm tau zoo hauv tsev kawm ntawv ib txwm, thaum lwm tus xav tau kev pab tshwj xeeb rau kev kawm . Nws yog ib qho tseem ceeb heev uas yuav tsum tsim kom muaj ib puag ncig kev kawm uas haum rau tus menyuam lub peev xwm thiab kev xav tau.

Cov neeg uas muaj tus kab mob Koolen-de Vries Syndrome yuav muaj sia nyob ntev npaum li cas?

Cov kws tshawb nrhiav tsis tuaj yeem hais meej tias lub neej ntev npaum li cas ntawm cov neeg uas muaj tus mob no yog dab tsi. Vim tias nws tsis tshua muaj, tseem muaj ob peb txoj kev tshawb fawb mus sij hawm ntev txog nws. Txawm li cas los xij, raws li cov ntaub ntawv tam sim no, feem ntau nws xav tias cov neeg uas muaj tus mob no yuav nyob mus txog hnub nyoog laus .

Yog tias kuv tus menyuam muaj tus mob Kuhl-de Vries syndrome (KdVS) kuv yuav tsum xav li cas?

Lub neej ntawm cov menyuam yaus uas muaj tus kab mob Koolen-de Vries Syndrome yuav txawv ntau heev nyob ntawm seb lawv cov tsos mob hnyav npaum li cas. Koj tus menyuam yuav tsum tau mus ntsib kws kho mob sib txawv thiab mus rau cov chaw kho mob ntau zaus. Kev kho mob thiab tshuaj yuav yog ib feem tseem ceeb ntawm lawv lub neej. Tsis tas li ntawd, qee tus menyuam uas muaj tus kab mob no yuav tsis tas yuav mus ntsib kws kho mob lossis tau txais kev kho mob ntau npaum li lwm tus.

Qhov tseem ceeb tshaj plaws yog nco ntsoov tias koj tsis nyob ib leeg. Cov kws kho mob thiab cov kws kho mob ntawm koj tus menyuam yuav nrog koj txhua kauj ruam ntawm txoj kev.

Koj tuaj yeem pab koj tus menyuam tau txais kev txhawb nqa uas lawv xav tau ntawm tsev kawm ntawv. Qhov no yuav suav nrog cov chav kawm tshwj xeeb lossis tus kws qhia ntawv . Tham nrog koj tus menyuam cov xib fwb thiab cov thawj coj hauv tsev kawm ntawv kom pab lawv tau txais cov peev txheej uas lawv xav tau. Piv txwv li, yog tias koj tus menyuam muaj teeb meem hais lus, xyuas kom lawv ua haujlwm nrog tus kws kho kev hais lus.

Cov neeg laus uas muaj tus kab mob Kuhlman-de Vries Syndrome (KdVS) feem ntau pom tias nws nyuaj rau nyob ib leeg. Qhov no yog ib yam dab tsi uas yuav tsum tau soj ntsuam ua ke nrog lawv cov neeg saib xyuas thiab cov kws kho mob, nyob ntawm txhua tus neeg qhov xwm txheej.

Thaum koj pom tias koj tus menyuam muaj Kuhlman-de Vries Syndrome (KdVS), nws yog ib qho ib txwm muaj ntau yam kev xav, suav nrog kev tu siab, kev ntxhov siab, thiab tej zaum txawm tias npau taws. Nws tsis yooj yim rau kev daws cov kev xav ntawd. Tab sis, kuv xav kom koj nco ntsoov tias koj tsis nyob ib leeg. Koj tus menyuam cov kws kho mob, cov kws tu mob, thiab cov kws kho mob yuav pab koj ntawm txoj kev no. Txij li kev kuaj mob mus rau kev kho mob, lawv cog lus tias yuav pab koj tswj koj tus menyuam tus mob thiab pab koj tus menyuam ua neej zoo dua.

Thaum kawg, cov lus coj mus tsev

• Koolen-de Vries Syndrome yog ib qho mob caj ces tsis tshua muaj. Nws yog tshwm sim los ntawm kev hloov pauv hauv cov noob 'KANSL1' ntawm chromosome 17.
• Kev loj hlob qeeb, kev tsis taus ntawm lub hlwb, thiab cov yam ntxwv ntawm lub ntsej muag yog cov tsos mob tseem ceeb ntawm tus mob no.
• Cov menyuam no feem ntau zoo siab thiab tus phooj ywg .
• Txawm hais tias tsis muaj kev kho mob tshwj xeeb los xij, muaj ntau yam kev kho mob thiab kev kho mob kom tswj tau cov tsos mob thiab txhim kho lub neej zoo .
• Kev txheeb xyuas thaum ntxov thiab kev pab cuam tsim nyog yog qhov tseem ceeb heev rau kev loj hlob ntawm tus menyuam.
• Yog tias koj tus menyuam muaj tus mob no, qhov tseem ceeb tshaj plaws yog ua raws li cov lus qhia ntawm kws kho mob, muab kev kho mob tsim nyog, thiab muab kev hlub thiab kev txhawb nqa rau koj tus menyuam ntau .
• Kev koom nrog cov pab pawg txhawb nqa rau cov niam txiv ntawm cov menyuam uas muaj cov mob no kuj tuaj yeem yog qhov chaw zoo ntawm lub zog. Tsis txhob yig nug koj cov kws kho mob txog koj cov lus nug thiab kev txhawj xeeb.

Peb vam tias cov ntaub ntawv no tau pab koj nkag siab txog Koolen-de Vries Syndrome.

` Cullen-De Vries Syndrome, Cov Kab Mob Genetic, Kev Loj Hlob qeeb, Kev Tsis Taus Kev Txawj Ntse, KANSL1 Gene, Chromosome 17, Kev Noj Qab Haus Huv ntawm Menyuam