Timothy Syndrome yog dab tsi? Koj tus menyuam puas muaj cov teebmeem no? Cia peb tham!

Koj puas txhawj txog koj tus me nyuam lub plawv teeb meem, lossis nws qhov tsos lossis kev loj hlob hloov pauv? Qee zaum, qhov ua rau muaj teeb meem no yuav yog ib yam mob caj ces uas peb tsis tau hnov ​​​​dua txog. Ib qho mob uas tsis tshua muaj tab sis tseem ceeb uas yuav tsum paub txog yog Timothy syndrome. Hnub no, peb yuav tham txog nws yooj yim, hauv txoj kev uas koj nkag siab tau.

Timothy Syndrome yog dab tsi?

Hais yooj yim xwb, tus mob Timothy syndrome yog ib yam mob uas tsis tshua muaj neeg paub txog los ntawm noob caj noob ces. Nws tuaj yeem cuam tshuam rau koj tus menyuam lub plawv, qhov tsos, lub paj hlwb, thiab lub cev tiv thaiv kab mob . Cov tsos mob tuaj yeem sib txawv, thiab qee tus menyuam tuaj yeem muaj teeb meem plawv dhia uas ua rau tuag taus.

Leej twg tau qhov no? Nws tau txais los ntawm leej twg li cas?

Tam sim no tej zaum koj yuav xav tias, 'Leej twg tau qhov no?' Timothy syndrome yog ib yam mob uas los ntawm noob caj noob ces, yog li txhua tus neeg yeej tau. Nws tshwm sim li no:

• Feem ntau, ib tug me nyuam yuav tsum tau txais tus mob no los ntawm ib tug niam txiv xwb, uas hu ua autosomal dominant inheritance.
• Qee zaum, qhov xav tsis thoob yog, tus menyuam tuaj yeem tau txais tus mob no los ntawm niam txiv uas tsis muaj tsos mob. Qhov no yog vim tias cov noob caj noob ces uas cuam tshuam yuav muaj nyob rau hauv qee lub hlwb ntawm niam txiv lub cev, tsis yog nyob rau hauv txhua lub hlwb . Qhov no hu ua tus mob 'mosaic'.
• Txawm li cas los xij, vim yog qhov mob hnyav ntawm cov tsos mob no, nws tsis tshua muaj neeg uas muaj tus kab mob Timothy kis cov noob caj noob ces no mus rau tiam tom ntej.
• Feem ntau, qhov mob no tshwm sim vim yog ib qho kev hloov pauv caj ces tshiab, tsis muaj keeb kwm tsev neeg . Uas yog, vim yog kev hloov pauv caj ces tshiab.

Qhov no feem ntau tshwm sim li cas?

Xav txog qhov no, tus mob Timothy syndrome no yog ib yam mob uas tsis tshua muaj neeg paub . Tsuas muaj tsawg dua 100 tus neeg thoob ntiaj teb uas muaj tus mob no. Yog li ntawd, tsis muaj neeg tham txog nws ntau.

Cov tsos mob ntawm Timothy Syndrome yog dab tsi?

Cov tsos mob no yuav txawv ntawm ib tug me nyuam mus rau lwm tus, thiab qhov hnyav ntawm cov tsos mob yuav txawv. Koj tus me nyuam yuav muaj qee cov tsos mob, tab sis lawv yuav tsis muaj qee cov. Cov tsos mob no feem ntau cuam tshuam rau lub plawv, qhov tsos ntawm lub cev, thiab lwm yam kev ua haujlwm ntawm lub cev .

Cov tsos mob cuam tshuam rau lub plawv

Cov tsos mob ntsig txog lub plawv yog qhov tseem ceeb tshaj plaws uas yuav tsum tau them sai sai, vim tias cov no tuaj yeem ua rau tuag taus.

• Thaum koj muab koj txhais tes tso rau ntawm koj tus menyuam lub hauv siab, koj yuav pom tias lub plawv dhia ceev lossis tsis xwm yeem (palpitations) .
• Tsis nco qab sai sai (syncope) .

Qhov no yog vim:

• Lub plawv dhia tsis txav ntev . Cov kws kho mob hu qhov no tias 'prolonged QT'.
• Kab mob plawv yug los (qhov tsis zoo ntawm lub plawv uas muaj thaum yug los) tuaj yeem cuam tshuam rau lub plawv lub peev xwm los nqus ntshav.
• Lub plawv dhia tsis sib xws (arrhythmia) .
• Cov chav qis ntawm lub plawv (ventricles) dhia ceev heev ('ventricular tachycardia') . Qhov no txaus ntshai heev.

Nco ntsoov tias, cov tsos mob ntsig txog lub plawv no tuaj yeem ua rau tuag taus . Koj yuav tsum ceev faj heev txog qhov no vim nws tuaj yeem ua rau lub plawv nres tam sim ntawd (cardiac arrest) lossis txawm tias tuag tam sim ntawd.

Cov yam ntxwv ntsig txog lub cev

Cov menyuam yaus uas muaj tus mob Timothy syndrome muaj qee yam cwj pwm tshwj xeeb uas pom tau thaum yug los:

• Tawv nqaij ntawm cov ntiv tes sib txuas ua ke ('cutaneous syndactyly') . Zoo li os. Yuav tshwm sim rau ob txhais tes thiab taw.
• Ua kom lub choj ntawm lub qhov ntswg tiaj tus .
• Cov pob ntseg raug teeb tsa qis dua li qub .
• Kev tsoo ntawm lub puab tsaig sab saud .
• Daim di ncauj sab saud nyias .
• Kev sib tsoo hniav thiab kev nkhaus .
• Tsis muaj plaub hau, zoo li taub hau thaum yug los .

Cov tsos mob cuam tshuam rau lub cev

Tus mob no kuj cuam tshuam rau cov feem ntawm lub hlwb ntawm tus menyuam uas tswj qee lub cev lub cev. Yog li ntawd, koj kuj tseem yuav pom cov tsos mob xws li:

• Kev loj hlob qeeb thiab teeb meem nrog kev ua haujlwm ntawm lub hlwb . Kev hais lus thiab kev taug kev yuav qeeb dua piv rau lwm tus menyuam.
• Kab mob ntau zaus . Vim tsis muaj zog tiv thaiv kab mob, cov kab mob kis tau yooj yim.
• Cov ntshav qab zib qis (hypoglycemia) .
• Txo qhov kub ntawm lub cev (hypothermia) .
• Qaug dab peg (cov no kuj tseem hu ua qaug dab peg lossis qaug dab peg thaum muaj teeb pom kev zoo) .
• Muaj teeb meem sib txuas lus thiab sib raug zoo nrog lwm tus (autism spectrum disorder) . Tej zaum yuav xav tias lawv nyob hauv lawv lub ntiaj teb.

Dab tsi ua rau muaj tus mob Timothy Syndrome?

Yog tias peb saib qhov ua rau qhov no, Timothy syndrome yog tshwm sim los ntawm kev hloov pauv caj ces lossis kev hloov pauv hauv cov noob caj ces 'CACNA1C' . Cov noob caj ces no qhia peb kom ua cov protein uas nqa cov calcium ions mus rau peb cov hlwb plawv (cardiomyocytes) thiab rau peb cov hlwb hlwb (neurons).

Xav txog seb, cov protein uas tsim los ntawm cov noob caj noob ces 'CACNA1C' zoo li lub qhov rooj. Lub qhov rooj no qhib thiab kaw, cia cov calcium atoms nkag thiab tawm hauv lub cell. Thaum muaj kev hloov pauv caj ces, lub qhov rooj no tseem qhib yam tsis kaw kom raug . Tom qab ntawd calcium txuas ntxiv mus rau hauv lub cell. Thaum cov calcium ntau dhau no sib sau ua ke, cov tsos mob ntawm Timothy syndrome tshwm sim, thiab qee lub cev lub cev tsis ua haujlwm zoo.

Cov calcium atoms no tseem ceeb heev rau peb lub cev:

• Tswj cov haujlwm hluav taws xob ntawm cov hlwb.
• Cov cell sib txuas lus nrog ib leeg.
• Pab cov leeg nqaij sib cog lus.
• Tswj cov noob caj noob ces uas cuam tshuam nrog kev loj hlob ntawm lub hlwb thiab pob txha thaum lub sijhawm embryonic.

Cov kws kho mob kuaj mob li cas?

Tus mob Timothy syndrome no kuaj tau ua ntej lossis tom qab yug los .

• Thaum lub sijhawm kuaj ultrasound thaum tus menyuam tseem nyob hauv plab , tus kws kho mob yuav kuaj seb tus menyuam lub plawv dhia puas zoo li qub. Lub plawv dhia tsis zoo uas cuam tshuam nrog Timothy syndrome yog lub plawv dhia qeeb hauv tus menyuam hauv plab (fetal bradycardia) .
• Tom qab tus me nyuam yug los, yuav muaj kev kuaj EKG (Electrocardiogram) los xyuas seb tus me nyuam lub plawv dhia li cas.

Ntxiv rau, cov kev kuaj no kuj pab lees paub qhov mob no:

• Kev kuaj noob caj noob ces los txheeb xyuas cov noob caj noob ces uas ua rau muaj cov tsos mob .
• Lwm yam kev kuaj duab (piv txwv li MRI, CT scan, X-ray) .
• Kev kuaj mob ntawm tus kws kho mob plawv kom paub tseeb tias lub plawv noj qab haus huv zoo .
• Kev kuaj mob ntawm tus kws kho mob neurologist los xyuas seb lub paj hlwb ua haujlwm li cas .
• Kuaj ntshav seb puas muaj lwm cov tsos mob ntxiv .

Cov kev kho mob rau qhov no yog dab tsi?

Lub hom phiaj tseem ceeb ntawm kev kho mob rau Timothy syndrome yog tswj cov tsos mob uas yuav ua rau tuag taus uas cuam tshuam rau lub plawv :

• Cov tshuaj siv los tswj lub plawv dhia (piv txwv li 'beta-blockers') .
• Siv lub tshuab cardioverter defibrillator (ICD) lossis lub tshuab pacemaker uas muab tso rau hauv lub cev . Cov no pab kho lub plawv dhia rov qab yog tias nws hloov pauv tsis xwm yeem.

Ntxiv rau qhov ntawd, muaj kev kho rau lwm cov tsos mob uas yuav cuam tshuam rau tus menyuam:

• Muab tshuaj tua kab mob los kho cov kab mob .
• Kev phais kho cov tawv nqaij lo rau ntawm cov ntiv tes .
• Saib xyuas cov ntshav qab zib tsis tu ncua .
• Xa mus rau cov kev kawm tshwj xeeb los pab nrog tus menyuam txoj kev kawm nyuaj .

Puas muaj teeb meem dab tsi thaum kho mob?

Cov menyuam yaus uas muaj tus kab mob Timothy syndrome muaj feem yuav mob plawv dhia tsis xwm yeem thiab muaj teeb meem plawv thaum siv tshuaj loog . Qhov no yog qhov tseeb tshwj xeeb rau cov tshuaj loog uas ua rau lub sijhawm QT ntev dua. Yog li ntawd, nws yog ib qho tseem ceeb uas yuav tsum qhia rau koj tus kws kho mob txog qhov no ua ntej phais.

Puas tiv thaiv tau tus mob Timothy Syndrome?

Tus mob Timothy syndrome yeej tsis yog ib yam uas yuav tiv thaiv tau.Vim qhov no yog los ntawm kev hloov pauv caj ces. Koj tuaj yeem tau txais nws los ntawm kev txais, lossis nws tuaj yeem tshwm sim sai sai yam tsis muaj keeb kwm tsev neeg.

Txawm li cas los xij, yog tias koj tab tom npaj yuav cev xeeb tub thiab xav paub txog koj qhov kev pheej hmoo ntawm kev muaj menyuam uas muaj mob caj ces zoo li Timothy syndrome, koj tuaj yeem tham nrog koj tus kws kho mob txog kev sab laj txog caj ces thiab kev kuaj caj ces .

Yog tias kuv tus menyuam muaj tus mob Timothy Syndrome, yuav ua li cas?

Tsis muaj kev kho rau tus mob no, tab sis kev kho mob tuaj yeem txo cov tsos mob uas ua rau tus menyuam tuag taus thiab txhim kho lawv lub neej zoo dua .

Qhov kev kwv yees rau cov menyuam yaus uas muaj kab mob plawv hnyav tsis zoo . Vim muaj cov mob xws li arrhythmias lossis ventricular tachycardia, qhov kev pheej hmoo ntawm kev tuag thaum yau yog li 80% . Qhov no tu siab hnov, tab sis nws yog ib qho tseem ceeb kom paub qhov tseeb.

Txawm li cas los xij, rau cov mob Timothy syndrome uas tsis hnyav heev, qhov tshwm sim yuav zoo dua .

Koj yuav saib xyuas ib tug me nyuam uas muaj tus mob no li cas?

Vim tias cov tsos mob ntawm tus mob Timothy syndrome tuaj yeem ua rau tuag taus, nws yog ib qho tseem ceeb uas yuav tsum mus ntsib koj tus menyuam tus kws kho mob tsis tu ncua kom saib xyuas lawv txoj kev noj qab haus huv tag nrho, tshwj xeeb tshaj yog lawv lub plawv . Kev kuaj mob tsis tu ncua tuaj yeem pab txheeb xyuas thiab kho cov tsos mob tshiab thaum ntxov.

Yog tias koj tus menyuam muaj kev loj hlob qeeb lossis muaj teeb meem kev kawm, cov kev kawm tshwj xeeb lossis kev txhawb nqa kev kho mob yuav pab tau koj tus menyuam nrog kev ua haujlwm hauv tsev kawm ntawv .

Thaum twg kuv yuav tsum coj kuv tus menyuam mus ntsib kws kho mob? Yuav ua li cas thaum muaj xwm txheej ceev?

Yog koj tus menyuam muaj cov tsos mob ntawm tus mob Timothy syndrome, xws li muaj kev kis kab mob, nyuaj rau tswj qhov kub ntawm lub cev, lossis ntshav qab zib qis ntau zaus , nco ntsoov mus ntsib kws kho mob.

Cov tsos mob hnyav dua, xws li qaug dab peg thiab lub plawv dhia tsis xwm yeem (tshwj xeeb tshaj yog tias lub plawv dhia ceev heev lossis tsis xwm yeem) , tuaj yeem ua rau tuag taus thiab xav tau kev kho mob tam sim ntawd . Yog tias qhov no tshwm sim, mus rau chav kho mob ceev (ER) lossis hu rau 911.

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

Nws yog ib lub tswv yim zoo los nug koj tus menyuam tus kws kho mob cov lus nug zoo li no:

• Puas muaj tej yam tshwm sim ntawm cov tshuaj uas koj tau muab rau koj?
• Puas yog kuv tus menyuam yuav tsum tau phais?
• Kuv tus menyuam puas noj qab nyob zoo txaus rau kev phais?
• Kuv yuav saib xyuas kuv tus menyuam cov tsos mob li cas?

Kev daws teeb meem nrog ib qho mob caj ces tsis tshua muaj tuaj yeem ua rau cov niam txiv tshiab thiab lawv cov menyuam nyuaj. Nws yog ib qho tseem ceeb uas yuav tsum tau saib xyuas koj tus menyuam txoj kev noj qab haus huv, tshwj xeeb tshaj yog kom pom tias kev kho mob puas tswj tau cov tsos mob thiab ua kom koj tus menyuam siv sijhawm ntau dua nrog koj. Thaum koj xav txog kev saib xyuas koj tus menyuam, xav txog koj tus kheej thiab koj tsev neeg. Nws tseem ceeb heev uas yuav tsum tham nrog tus kws pab tswv yim txog kev noj qab haus huv ntawm lub hlwb kom txo tau kev ntxhov siab thiab kev ntxhov siab, thiab kom paub seb koj tuaj yeem pab koj tus menyuam li cas.

Nco ntsoov tej no (Cov Lus Coj Mus Tsev)

Timothy syndrome yog ib qho mob caj ces uas tsis tshua muaj, tab sis muaj teeb meem loj heev.

• Yuav tsum paub txog qhov no tas li, vim nws muaj feem cuam tshuam rau lub siab .
• Cov tsos mob sib txawv ntawm ib tug me nyuam mus rau ib tug me nyuam .
• Kev kuaj mob thaum ntxov thiab kev kho mob kom zoo tuaj yeem txhim kho tus menyuam lub neej zoo.
• Nws yog ib qho tseem ceeb heev uas yuav tsum ua raws li cov lus qhia kho mob thiab tsis txhob plam qhov kev kuaj mob uas tau teem tseg .
• Koj tsis yog ib leeg xwb hauv txoj kev taug kev no. Nrhiav kev txhawb nqa los ntawm cov kws kho mob, cov kws pab tswv yim, thiab cov neeg koj hlub .

Timothy syndrome, cov kab mob caj ces, cov kab mob plawv, cov kab mob thaum yau, kev loj hlob qeeb, CACNA1C gene, cov kab mob tsis tshua muaj