Koj tus menyuam puas muaj cov tsos mob no? Cia peb kawm txog Costello Syndrome!

Qee zaum peb txhawj heev thaum peb hnov ​​txog qee yam kab mob uas peb cov menyuam yuav muaj, puas yog? Tshwj xeeb tshaj yog tias nws yog ib yam kab mob tsis tshua muaj. Ib qho mob caj ces tsis tshua muaj uas ntau tus neeg tsis tau hnov ​​​​​​txog, tab sis nws tseem ceeb kom paub txog, yog Costello Syndrome. Cia peb tham txog nws kom meej me ntsis, yooj yim heev. Tej zaum koj yuav xav tias qhov no tsis siv rau kuv, tab sis qhov kev paub no yuav pab tau rau ib tus neeg ib hnub twg.

Costello Syndrome yog dab tsi?

Hais yooj yim xwb, Costello Syndrome yog ib yam mob caj ces uas tsis tshua muaj uas cuam tshuam rau ntau qhov ntawm lub cev. Piv txwv li, nws tuaj yeem cuam tshuam rau ntau lub cev, xws li lub hlwb, pob txha, lub plawv, txoj hnyuv, cov leeg, lub raum, thiab daim tawv nqaij.

Tam sim no xav txog, peb muaj cov hlwb hauv peb lub cev. Cov hlwb no yog yam uas loj hlob thiab kho peb. Feem ntau, cov hlwb no loj hlob thiab faib raws li qee qhov kev tswj hwm. Txawm li cas los xij, hauv Costello syndrome, nws zoo li cov hlwb no tau txais lus txib kom "loj hlob thiab faib ntau dhau, sai dhau." Qhov laj thawj rau qhov no yog tias muaj qhov tsis zoo hauv cov protein uas tswj kev loj hlob ntawm cov hlwb. Ua li no, cov hlwb sib sau ua ke tsis tsim nyog thiab sai, thiab muaj kev pheej hmoo ntawm kev tsim cov qog nqaij hlav, ob qho tib si mob qog noj ntshav thiab tsis mob qog noj ntshav .

Tus mob no feem ntau tshwm sim li cas?

Qhov tseeb, Costello syndrome yog ib yam mob tsis tshua muaj. Kwv yees tias tsuas muaj li ntawm 100 thiab 1500 tus neeg thoob ntiaj teb raug tus mob no. Qhov no txhais tau tias nws yog ib yam mob tsis tshua muaj.

Cov tsos mob ntawm Costello syndrome yog dab tsi?

Cov tsos mob ntawm Costello syndrome yuav txawv ntawm ib tus neeg mus rau ib tus neeg, thiab qhov hnyav ntawm cov tsos mob yuav txawv. Cov tsos mob no cuam tshuam rau ntau qhov ntawm lub cev. Cia peb saib cov tsos mob tseem ceeb uas tuaj yeem pom:

• Kab mob plawv: Tej yam mob xws li lub plawv dhia tsis xwm yeem ('arrhythmia') thiab cov leeg plawv tuab ('hypertrophic cardiomyopathy') tuaj yeem tshwm sim. Cov no tej zaum yog cov tsos mob txaus ntshai tshaj plaws.
• Kev pub niam mis thiab kev pub mis nyuaj: Tshwj xeeb tshaj yog thaum menyuam yaus, nws yuav nyuaj rau tus menyuam pub niam mis thiab noj mov. Qee zaum yuav xav tau ib lub raj pub mis .
• Kev nkhaus ntawm tus txha nqaj qaum: Tej yam mob xws li kev nkhaus ntawm tus txha nqaj qaum (scoliosis) lossis kev nkhaus rau pem hauv ntej (kyphosis) tuaj yeem pom.
• Kev tsis taus ntawm lub hlwb thiab kev loj hlob tsis zoo ntawm lub hlwb: Tej zaum yuav muaj kev tsis taus ntawm lub hlwb me me mus rau nruab nrab. Tej zaum yuav pom qee qhov tsis zoo ntawm kev loj hlob ntawm lub hlwb, xws li Chiari malformation .
• Teeb meem pom kev thiab hniav: Kev tsis pom kev zoo, teeb meem nrog qhov chaw lossis kev loj hlob ntawm cov hniav yuav tshwm sim.
• Kev hloov pauv ntawm cov qauv hauv lub raum: Tej zaum yuav muaj qee qhov kev hloov pauv ntawm cov duab lossis qhov chaw ntawm lub raum.
• Cov leeg nqaij tsis muaj zog (hypotonia): Cov leeg nqaij hauv lub cev yuav xoob me ntsis thiab tsis muaj zog.

Cov yam ntxwv ntawm lub cev pom tseeb

Ntxiv rau cov tsos mob no, qee qhov tshwj xeeb tuaj yeem pom hauv cov tsos ntawm cov menyuam yaus thiab cov neeg laus uas muaj Costello syndrome:

• Kev khoov ntawm cov ntiv tes thiab cov pob qij txha ntawm lub dab teg ntau dhau.
• Muaj ib txoj leeg Achilles nruj nyob tom qab ntawm pob taws.
• Muaj lub taub hau loj dua li qhov nruab nrab, lub qhov ncauj loj, daim di ncauj puv, qhov ntswg dav, thiab lub ntsej muag zoo li ntxhib me ntsis .
• Muaj daim tawv nqaij xoob ntawm tes thiab taw (`cutis laxa`).
• Kev loj hlob qeeb thaum yau thiab poob qhov siab tom qab laus.
• Qee qhov chaw ntawm daim tawv nqaij yuav tsaus dua li daim tawv nqaij ib puag ncig (hyperpigmentation).

Vim li cas cov qog tsim nyob rau hauv qhov xwm txheej no?

Zoo li kuv tau hais ua ntej lawm, qhov kev hloov pauv caj ces uas ua rau Costello syndrome ua rau cov hlwb loj hlob thiab faib sai. Qhov kev faib hlwb ntau dhau yog qhov ua rau muaj qog nqaij hlav. Cov qog nqaij hlav no tuaj yeem yog qog nqaij hlav lossis tsis yog qog nqaij hlav (benign).

Nov yog qee hom txiv ntoo uas feem ntau pom:

• Papilloma (tsis yog mob qog noj ntshav): Cov no yog cov me me, zoo li cov pob khaus uas tuaj yeem tshwm sim nyob ib puag ncig lub qhov ntswg, qhov ncauj, lossis qhov quav.
• Rhabdomyosarcoma (mob qog noj ntshav): Qhov no yog mob qog noj ntshav uas tshwm sim hauv cov leeg nqaij thaum yau.
• Neuroblastoma (mob qog noj ntshav): Qhov no kuj yog mob qog noj ntshav ntawm cov hlab ntsha uas feem ntau tshwm sim rau cov menyuam yaus thiab cov hluas.
• Mob qog nqaij hlav hloov pauv (mob qog nqaij hlav): Qhov no yog ib hom mob qog nqaij hlav uas tshwm sim rau cov neeg laus.

Dab tsi ua rau muaj tus mob Costello syndrome?

Qhov ua rau muaj Costello syndrome yog kev hloov pauv hauv HRAS gene hauv peb cov noob caj noob ces. Cov noob caj noob ces HRAS no tsim cov protein hu ua H-Ras. Lub luag haujlwm ntawm cov protein no yog tswj kev loj hlob ntawm cov cell thiab kev faib cov cell.

Xav txog cov protein H-Ras no zoo li lub teeb hloov. Thaum lub noob HRAS hloov pauv, lub "kaw" ntawm cov protein no tsis ua haujlwm lawm. Zoo li cov protein no "qhib" tas li. Yog li ntawd, cov cell yeej ib txwm tau txais cov cim tsis tsim nyog kom "loj hlob ntxiv, faib ntxiv." Qhov no yog keeb kwm caj ces tseem ceeb ntawm Costello syndrome.

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

Feem ntau cov mob Costello syndrome yog tshwm sim los ntawm kev hloov pauv caj ces tshiab ('de novo' mutations). Qhov no txhais tau tias ib tug menyuam tuaj yeem muaj tus mob no yam tsis tau npaj tseg, yam tsis muaj leej twg hauv tsev neeg tau muaj tus mob no ua ntej.

Tiam sis, tsis tshua muajCov menyuam yaus tuaj yeem tau txais tus mob no los ntawm lawv niam lawv txiv. Qhov no hu ua "autosomal dominant". Qhov no txhais tau tias txawm tias tsuas yog ib tug niam txiv muaj qhov kev hloov pauv caj ces, muaj li ntawm 50% txoj hmoo uas tus menyuam yuav tau txais nws.

Leej twg thiaj muaj tau tus mob Costello syndrome?

Tus mob no yeej tshwm sim tau rau txhua tus neeg. Raws li tau hais ua ntej lawm, feem ntau nws tshwm sim yam tsis muaj kev npaj ua ntej, tsis muaj keeb kwm tsev neeg.

Yuav kuaj mob li cas? (Kev kuaj mob)

Feem ntau tus mob Costello syndrome no raug kuaj pom thaum tseem yog menyuam yaus. Tus kws kho mob yuav xub kuaj xyuas tus menyuam cov tsos mob kom zoo zoo. Tom qab ntawd, yuav kuaj noob caj noob ces kom paub meej tias muaj qhov txawv txav ntawm noob caj noob ces. Tus kws kho mob kuj yuav nug seb puas muaj leej twg hauv tsev neeg muaj keeb kwm muaj teeb meem ntawm noob caj noob ces, vim tias nws tsis tshua muaj los ntawm kev tau txais los ntawm niam txiv.

Qee zaum, cov tsos mob ntawm Costello syndrome yuav zoo ib yam li cov tsos mob ntawm lwm yam mob caj ces, xws li cardiofaciocutaneous syndrome (CFC syndrome) thiab Noonan syndrome . Yog li ntawd, kev kuaj mob caj ces yog qhov tseem ceeb rau kev kuaj mob kom raug. Nws yog qhov uas ua rau cov mob no sib txawv ntawm ib leeg.

Cov kev kho mob rau Costello syndrome yog dab tsi?

Tu siab kawg li, tsis muaj kev kho mob tseeb rau Costello syndrome. Yog li ntawd, kev kho mob feem ntau yog tsom mus rau kev tswj thiab tswj cov tsos mob. Muaj ntau txoj kev xaiv kho mob:

• Kev Phais Mob: Tej zaum yuav xav tau kev phais mob rau tej yam xws li kab mob plawv, kev noj zaub mov tsis zoo, thiab mob pob txha caj qaum.
• Cov Tshuaj: Cov tshuaj xws li beta-blockers, calcium channel blockers, thiab cov tshuaj antiarrhythmic yog muab los tswj cov tsos mob ntawm kab mob plawv.
• Yuav kom pom kev zoo dua: hnav tsom iav los yog phais qhov muag.
• Txhawm rau kom cov leeg muaj zog thiab kho cov teeb meem tsis zoo ntawm kev loj hlob ntawm pob txha: hnav cov khoom txhawb nqa tshwj xeeb ('brace'), muab kev kho lub cev thiab kev kho mob ua haujlwm.
• Cov Kev Kawm Tshwj Xeeb: Xa mus rau cov kev kawm tshwj xeeb los txhawb tus menyuam txoj kev kawm hauv tsev kawm ntawv.
• Kev Kho Mob Rau Cov Qog: Phais Mob Los Sis Siv Tshuaj Kho Mob Rau Cov Qog Mob Cancer. Tshem Tawm Cov Qog Mob Uas Tsis Yog Qog Mob Cancer Xws Li Cov Papillomas Siv Dej Khov Qhuav .

Qhov tseem ceeb tshaj plaws yog ua raws li tag nrho cov kev kho mob no raws li tus kws kho mob qhia, raws li tus menyuam tus mob thiab cov tsos mob.

Lub neej yuav zoo li cas nrog qhov xwm txheej no?

Costello syndrome yog ib qho mob uas yuav tsum tau kho mus tas li.Tsis muaj ib txoj kev kho mob tshwj xeeb rau qhov no. Lub neej ntev npaum li cas ntawm ib tus neeg uas muaj tus mob no yog txiav txim siab los ntawm qhov hnyav ntawm cov tsos mob, tshwj xeeb tshaj yog cov tsos mob ntawm lub plawv.

Txawm li cas los xij, yog tias kuaj pom tus kab mob thaum ntxov thiab pib kho sai sai, tus menyuam yuav tau txais kev pab kom muaj lub neej zoo. Kev kho mob tsis yog tsuas yog tswj cov tsos mob xwb, tab sis kuj kho cov qog nqaij hlav uas tshwm sim los ntawm kev faib ntau dhau ntawm cov cell. Yog li ntawd, muaj kev cia siab.

Puas tiv thaiv tau tus mob Costello syndrome?

Qhov tseeb, nws nyuaj heev rau kev tiv thaiv tus mob no. Vim tias, feem ntau, nws tshwm sim yam tsis tau xav txog. Txawm li cas los xij, yog tias koj paub tias ib tug neeg hauv koj tsev neeg muaj tus kab mob caj ces zoo li Costello syndrome, koj tuaj yeem tau txais qee lub tswv yim ntawm koj qhov kev pheej hmoo los ntawm kev tham nrog kws kho mob thiab tau txais kev sab laj txog caj ces ('kev sab laj txog caj ces') thiab, yog tias tsim nyog, 'kev kuaj caj ces' .

Kuv yuav tsum mus ntsib kws kho mob thaum twg?

Yog tias koj tus menyuam tau kuaj pom tias muaj tus mob Costello syndrome thiab qhia cov tsos mob uas cuam tshuam rau lawv txoj kev ua neej ib txwm , tshwj xeeb tshaj yog tias lawv muaj teeb meem noj mov lossis tsis loj hlob zoo, mus ntsib kws kho mob tam sim ntawd.

Kuj tseem muaj tej lub sijhawm uas koj yuav tsum mus rau chav kho mob ceev, tshwj xeeb tshaj yog tias koj muaj ib qho ntawm cov tsos mob ntsig txog lub plawv no:

• Lub plawv dhia ceev lossis qeeb txawv txav.
• Ua pa nyuaj.
• Mob hauv siab.
• Hnov kiv taub hau los yog qaug zog.

Yog koj pom cov tsos mob no, tsis txhob ncua sijhawm.

Cov lus nug tseem ceeb uas yuav nug tus kws kho mob yog dab tsi?

Thaum koj paub tias koj tus menyuam muaj tus mob tsis tshua muaj no, nws yog ib qho ib txwm muaj ntau cov lus nug. Nws yog ib qho tseem ceeb uas yuav tsum nug koj tus kws kho mob cov lus nug zoo li no:

• Cov kev kho mob uas tau muab los muaj cov kev mob tshwm sim li cas?
• Puas yog kuv tus menyuam xav tau phais ?
• Kuv yuav tsum tuaj kuaj mob ntau npaum li cas kom paub txog cov tsos mob ntawm kuv tus menyuam?
• Puas yog kuv tus menyuam xav tau kev pab los ntawm ib tus kws tshwj xeeb ? (piv txwv li, kws kho mob plawv, kws kho mob caj ces)

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

Nws yog ib qho ib txwm muaj uas yuav xav tias ntxhov siab thiab ntxhov siab thaum koj pom tias koj tus menyuam muaj tus mob caj ces tsis tshua muaj xws li Costello Syndrome. Nws zoo ib yam rau txhua tus neeg. Tab sis nco ntsoov, koj tsis yog tib leeg xwb. Cov kws kho mob thiab cov neeg ua haujlwm kho mob tab tom ua lawv qhov zoo tshaj plaws los muab kev kho mob thiab kev saib xyuas zoo tshaj plaws rau koj tus menyuam.

Qhov tseem ceeb tshaj plaws yog yuav tsum nco ntsoov txog cov tsos mob ntawm koj tus menyuam. Yuav tsum ceev faj txog cov qog me me uas yuav tshwm sim los ntawm kev faib cov cell ntau dhau. Yog tias pom thiab kho sai sai, qhov tshwm sim yuav zoo dua.

Vam tias cov ntaub ntawv no yuav pab tau koj. Yog tias koj muaj lus nug ntxiv, tsis txhob yig nrog kws kho mob tham.

Costello Syndrome, cov kab mob caj ces, cov kab mob tsis tshua muaj, kev noj qab haus huv ntawm menyuam yaus, HRAS gene, kev pheej hmoo ntawm mob qog noj ntshav, cov tsos mob