Koj tus menyuam puas muaj cov tsos mob no? Cia peb tham txog Jacobsen Syndrome

Koj puas tau pom muaj kev hloov pauv lossis teeb meem nrog koj tus menyuam txoj kev loj hlob lossis lub ntsej muag zoo li cas? Qee zaum, tej zaum yuav muaj ib yam mob tsis tshua muaj xws li Jacobsen Syndrome. Tsis txhob txhawj, peb yuav ua kom txhua yam yooj yim.

Jacobsen Syndrome yog dab tsi?

Hais yooj yim xwb, Jacobsen Syndrome yog ib yam mob tsis tshua muaj feem cuam tshuam nrog cov chromosomes hauv peb lub cev. Peb cov noob caj noob ces nyob rau ntawm cov chromosomes no. Hauv qhov mob no, ntau cov noob caj noob ces ploj lawm lossis raug tshem tawm ntawm ib feem ntawm peb cov chromosome 11. Yog xav kom meej meej, cov noob caj noob ces no ploj ntawm qhov kawg ntawm caj npab ntev (q caj npab) ntawm cov chromosome no. Yog vim li ntawd nws thiaj hu ua 11q terminal deletion disorder.

Xav txog, yog tias ib daim me me ntawm chromosome 11 ploj lawm, tus naj npawb ntawm cov noob caj noob ces uas cuam tshuam kuj raug txo qis. Tom qab ntawd cov tsos mob yuav raug txo qis me ntsis. Tab sis yog tias ib feem loj ploj lawm, cov tsos mob yuav hnyav dua. Thaum qee tus neeg tsuas muaj ib feem me me ploj lawm li no, nws hu ua partial Jacobsen syndrome lossis partial monosomy 11q. Monosomy yog thaum ib feem ntawm khub chromosome ploj lawm.

Cov menyuam yaus uas muaj tus kab mob Jacobsen Syndrome muaj kev loj hlob qeeb , teeb meem kev coj cwj pwm , thiab cov yam ntxwv ntawm lub ntsej muag . Muaj ntau tus menyuam yaus kuj muaj cov teeb meem plawv txij thaum yug los . Lawv kuj muaj feem yuav muaj tus kab mob ntshav hu ua Paris-Trousseau syndrome.

Tam sim no tsis muaj kev kho mob tag nrho rau qhov no, thiab lub sijhawm muaj sia nyob txawv ntawm ib tus neeg mus rau ib tus neeg.

Cov tsos mob ntawm Jacobsen Syndrome yog dab tsi?

Cov tsos mob ntawm Jacobsen Syndrome sib txawv nyob ntawm qhov loj thiab qhov chaw ntawm qhov kev rho tawm. Muaj ntau tus neeg ntsib kev qeeb hauv kev txhim kho kev hais lus thiab kev txav mus los . Lawv kuj tseem yuav muaj kev puas tsuaj ntawm kev paub thiab lwm yam kev kawm tsis taus .

Muaj ntau tus menyuam uas muaj Jacobsen Syndrome kuj muaj teeb meem kev coj cwj pwm . Piv txwv li, kev coj cwj pwm tsis zoo thiab lub sijhawm luv luv. Muaj ntau tus menyuam kuj raug kuaj pom tias muaj tus mob hu ua Attention-Deficit/Hyperactivity Disorder (ADHD) . Tus mob no kuj cuam tshuam nrog kev pheej hmoo ntawm kev mob Autism Spectrum Disorders .

Cov yam ntxwv tshwj xeeb ntawm lub ntsej muag

Cov menyuam yaus uas muaj Jacobsen Syndrome muaj ntau yam ntxwv ntawm lub ntsej muag. Cov no suav nrog:

• Muaj lub taub hau loj - macrocephaly
• Lub hauv pliaj ntse vim yog qhov tsis zoo ntawm lub pob txha taub hau (trigonocephaly)
• Pob ntseg me me, teeb tsa qis
• Qhov muag uas nyob deb sib nrug - hypertelorism
• Qhov muag poob qis - ptosis
• Qhov muaj cov tawv nqaij ntawm lub ces kaum sab hauv ntawm lub qhov muag - epicanthal folds
• Choj qhov ntswg dav
• Cov ces kaum ntawm lub qhov ncauj tig mus rau hauv qab
• Ib daim di ncauj sab saud nyias nyias
• Ib qho me me undercut

Lwm yam nta

Muaj ntau lwm yam ntxwv uas koj tuaj yeem pom:

• Cov teeb meem plawv yug los
• Kev nyuaj siab ntawm kev pub mis
• Kev loj hlob qeeb ua ntej thiab tom qab yug me nyuam
• luv luv
• Kab mob sinus thiab pob ntseg ntau zaus
• Kev tsis zoo ntawm lub cev zom zaub mov, raum, thiab genitals

Muaj ntau tus neeg uas muaj tus mob Jacobsen Syndrome kuj muaj tus mob ntshav hu ua Paris-Trousseau syndrome . Qhov no cuam tshuam rau koj tus menyuam cov ntshav platelets . Cov ntshav platelets yog ib hom cell uas pab kom ntshav khov. Nrog tus mob Paris-Trousseau syndrome, tus menyuam muaj feem yuav los ntshav tsis zoo thoob plaws hauv lawv lub neej, thiab tej zaum yuav mob nqaij yooj yim.

Dab tsi yog cov ua rau muaj Jacobsen Syndrome?

Jacobsen Syndrome yog ib qho teeb meem ntawm cov chromosomes . Raws li koj paub, chromosomes yog cov khoom uas muaj peb cov ntaub ntawv txog noob caj noob ces (genes). Cov noob caj noob ces no txiav txim siab seb peb lub cev yuav tsum loj hlob thiab ua haujlwm li cas. Feem ntau, muaj 22 khub chromosomes uas muaj tus lej hauv tib neeg lub cev, ntxiv rau ib khub chromosomes poj niam txiv neej. Txhua chromosome muaj ib sab caj npab luv (p caj npab) thiab ib sab caj npab ntev (q caj npab).

Hauv qee tus neeg, ntau cov noob caj noob ces ntawm qhov kawg ntawm caj npab ntev (q) ntawm chromosome 11 raug tshem tawm. Ib nrab ntxiv ntawm chromosome 11 feem ntau tsis muaj teeb meem. Qhov no yog qhov ua rau muaj Jacobsen Syndrome. Qhov loj dua ntawm qhov kev tshem tawm, cov tsos mob hnyav dua. Nyob ntawm qhov loj ntawm qhov kev tshem tawm, thaj chaw tuaj yeem muaj txhua qhov chaw ntawm 170 txog ntau dua 340 noob caj noob ces. Cov noob caj noob ces hauv thaj chaw no yog lub luag haujlwm rau kev loj hlob zoo ntawm peb lub plawv, lub hlwb, thiab cov yam ntxwv ntawm lub ntsej muag.

Qhov no puas yog dominant los yog recessive?

Dominant los yog recessive txhais tau hais tias koj tau txais koj cov noob caj noob ces los ntawm koj niam koj txiv li cas.

Tiam sis,Feem ntau, Jacobsen Syndrome tsis yog los ntawm noob caj noob ces. Qhov ntawd yog, nws tsis yog los ntawm niam txiv. Feem ntau nws yog los ntawm qhov yuam kev hauv kev faib cell thaum lub sijhawm embryonic loj hlob, ua rau poob ib feem ntawm cov chromosome. Tsis muaj dab tsi uas niam txiv tuaj yeem ua los tiv thaiv nws, thiab tsis muaj dab tsi lawv tuaj yeem ua los tiv thaiv nws. Cov neeg uas muaj Jacobsen Syndrome feem ntau tsis muaj keeb kwm tsev neeg ntawm tus mob no. Txawm li cas los xij, lawv tuaj yeem kis tus mob no mus rau lawv cov menyuam.

Tsis tshua muaj neeg uas muaj tus kab mob Jacobsen Syndrome no yuav tau txais tus mob no los ntawm niam txiv uas tsis muaj tsos mob. Qhov no tshwm sim thaum niam txiv muaj ib qho teeb meem caj ces hu ua kev hloov pauv sib npaug . Hais yooj yim xwb, ib feem ntawm chromosome 11 thiab ib feem ntawm lwm qhov chromosome hloov pauv qhov chaw. Qhov no tsis txo cov khoom caj ces, yog li niam txiv tsis qhia cov tsos mob. Txawm li cas los xij, thaum cov chromosomes no raug xa mus, cov menyuam yuav muaj qhov tsis sib npaug.

Cov yam ua rau muaj kev pheej hmoo yog dab tsi?

Jacobsen Syndrome yog ib yam mob uas muaj los ntawm noob caj noob ces uas tuaj yeem cuam tshuam rau txhua tus neeg. Qee qhov kev tshawb fawb pom tias nws cuam tshuam rau cov ntxhais ntau dua me ntsis.

Cov kws kho mob kuaj mob li cas?

Tej zaum koj tus kws kho mob yuav kuaj tau Jacobsen Syndrome thaum koj cev xeeb tub. Yog tias kev kuaj ultrasound ua ntej yug me nyuam ua rau muaj kev txhawj xeeb, koj tus kws kho mob yuav pom zoo kom kuaj ntxiv. Cov kev kuaj mob caj ces ua ntej yug me nyuam feem ntau suav nrog:

• Kev kuaj mob ua ntej yug me nyuam uas tsis yog kev phais (NIPT): Qhov no suav nrog kev rho me me ntawm koj tus menyuam cov DNA los ntawm cov qauv ntshav thiab kuaj xyuas seb puas muaj qhov tsis zoo ntawm tus lej ntawm cov chromosomes.
• Kev kuaj mob Chorionic villus (CVS): Tus kws kho mob siv ib rab koob los kuaj cov qe ntshav ntawm lub placenta.
• Kev kuaj amniotic: Tus kws kho mob siv ib rab koob los kuaj cov kua amniotic hauv lub tsev menyuam.

Tom qab tus me nyuam yug los, tus kws kho mob ntawm tus me nyuam tuaj yeem kuaj mob Jacobsen Syndrome los ntawm kev kuaj noob caj noob ces . Hauv qhov kev kuaj noob caj noob ces no, tus kws kho mob yuav coj cov ntshav ntawm tus me nyuam thiab saib nws hauv qab lub tshuab kuaj me me. Lawv yuav pleev xim rau cov chromosomes hauv cov qauv, uas zoo li tus lej barcode. Qhov no tuaj yeem nrhiav cov chromosomes tawg, cov noob caj noob ces uas ploj lawm. Feem ntau, qhov tawg yog nyob rau ntawm chromosome 11. Txawm li cas los xij, yuav tsum tau kuaj noob caj noob ces ntxiv kom pom qhov chaw tseeb ntawm qhov tawg.

Lwm qhov kev sim yog Microarray Comparative Genomic Hybridization (Array CGH).Qee zaum kev hloov me me hauv cov chromosomes, me dhau uas pom tsis tau hauv qab lub tshuab tsom iav, tuaj yeem ua rau Jacobsen Syndrome. Thaum ntawd cov kws kho mob ua qhov kev xeem Array CGH no. Qhov no qhia txog kev hloov me me hauv DNA thoob plaws hauv cov chromosomes ntawm tus menyuam. Nws tuaj yeem nrhiav tau seb cov DNA puas tau theej, puas raug cuam tshuam, lossis ploj lawm.

Yuav kho tus mob Jacobsen Syndrome li cas?

Tsis muaj kev kho mob rau Jacobsen Syndrome. Kev kho mob feem ntau yog tsom mus rau:

• Txhawm rau tswj koj tus menyuam cov tsos mob
• Pab nws kom ncav cuag nws txoj kev loj hlob
• Yuav kom tsis txhob muaj teeb meem kev noj qab haus huv

Rau cov menyuam mos uas muaj teeb meem noj mov, cov kws kho mob yuav pom zoo kom siv lub raj gastrostomy (G-tube) . Lub raj no muab tso rau hauv lub plab ntawm tus menyuam kom xa zaub mov. Kev phais hu ua fundoplication tuaj yeem kho qhov teeb meem nrog lub valve ntawm qab ntawm lub raj xa zaub mov.

Tej zaum koj tus menyuam yuav xav tau lwm yam kev phais. Piv txwv li, kev phais kom kho cov teeb meem ntawm lub taub hau thiab lub ntsej muag, xws li trigonocephaly . Tej zaum yuav xav tau kev phais kom kho qhov muag lossis teeb meem ntawm qhov muag. Tej zaum yuav xav tau kev phais kom kho cov pob txha, lub plawv, thiab lwm yam teeb meem.

Koj tus menyuam tus kws kho mob yuav sau ntawv rau qee cov tshuaj rau qee yam teeb meem plawv. Piv txwv li, tshuaj antiarrhythmics . Cov no yog cov tshuaj uas pab tiv thaiv lossis kho cov plawv dhia tsis zoo. Lawv kuj tseem yuav sau ntawv rau cov tshuaj diuretics . Cov no yog cov tshuaj uas pab tshem cov dej ntau dhau ntawm lub cev.

Cov kws kho mob yuav pom zoo kom hnav tsom iav kho qhov muag, tsom iav sib cuag, lossis phais rau qhov muag uas muaj teeb meem.

Cov kws kho mob yuav muab kev hloov ntshav lossis kev hloov ntshav platelet los kho cov teebmeem ntawm Paris-Trousseau syndrome . Lawv kuj tseem yuav muab tshuaj rau koj hu ua desmopressin , uas pab koj cov ntshav txhaws.

Koj tus menyuam yeej yuav loj hlob mus txog lawv lub hom phiaj thaum twg los tau. Txawm li cas los xij, kev pab thaum ntxov yuav pab tau lawv kom lawv loj hlob mus txog lawv lub peev xwm tag nrho. Koj tus kws kho mob yuav pom zoo kom ua raws li cov hauv qab no:

• Kev kawm tshwj xeeb rau kev kho mob
• Kev kho lub cev
• Kev kho mob hais lus

Yog tias kuv tus menyuam muaj Jacobsen Syndrome, kuv yuav tsum tau tos li cas?

Lub neej ntev ntawm cov neeg uas muaj Jacobsen Syndrome yuav ntev npaum li cas nyob ntawm seb lawv cov tsos mob hnyav npaum li cas. Vim muaj mob plawv hnyav thiab teeb meem ntshav txhaws, kwv yees li 20% ntawm cov menyuam mos uas muaj Jacobsen Syndrome tuag ua ntej hnub nyoog 2 xyoos.

Txawm li cas los xij, ntau tus menyuam uas muaj tus mob Jacobsen Syndrome tau dim mus txog thaum lawv loj hlob. Cov neeg laus uas muaj tus mob no tuaj yeem ua neej zoo siab, txaus siab nrog ntau qib kev ywj pheej.

Puas tiv thaiv tau Jacobsen Syndrome?

Vim tias nws yog ib qho mob caj ces, Jacobsen Syndrome tsis tuaj yeem tiv thaiv tau. Yog tias koj cev xeeb tub lossis npaj yuav cev xeeb tub, nug koj tus kws kho mob txog kev sab laj txog caj ces. Tus kws sab laj txog caj ces tuaj yeem pab koj nkag siab txog koj qhov kev pheej hmoo ntawm kev muaj menyuam nrog Jacobsen Syndrome.

Kev nrhiav pom tias koj tus menyuam muaj Jacobsen Syndrome tuaj yeem ua rau ntshai heev. Tsis txhob ntshai, tab sis siv sijhawm los kawm ntau li ntau tau txog kev kuaj mob ntawm koj tus menyuam. Yog tias ua tau, sim nrhiav tus kws kho mob uas nkag siab txog koj tus menyuam tus mob. Nws tuaj yeem muab cov kev kho mob zoo tshaj plaws rau koj tus menyuam.

Yuav pab koj daws qhov teeb meem ntawm koj tus menyuam, nrhiav cov pab pawg txhawb nqa . Lwm tus neeg uas tau nyob hauv tib qho xwm txheej li koj tuaj yeem muab kev paub thiab lub zog uas koj xav tau los pab koj tus menyuam.

Cov Lus Qhia Txog Kev Coj Mus Tsev

Jacobsen Syndrome yog ib qho mob tsis tshua muaj thiab muaj peev xwm ua rau muaj teeb meem ntau, tab sis nco ntsoov, koj tsis yog tib leeg xwb.

• Qhov no yog tshwm sim los ntawm kev hloov pauv caj ces , tsis yog niam txiv lub txim.
• Kev txheeb xyuas thiab kev pab thaum ntxov yog qhov tseem ceeb heev rau kev txhim kho tus menyuam lub neej zoo.
• Nrhiav kev pab los ntawm cov kws kho mob tshwj xeeb, cov kws kho mob lub cev, thiab cov kws pab tswv yim .
• Lub zog thiab kev paub dhau los ntawm cov pab pawg txhawb nqa nrog lwm cov niam txiv yog qhov muaj nqis heev.
• Txhua tus menyuam txawv. Ua zoo rau koj tus menyuam nrog kev hlub thiab kev ua siab ntev raws li lawv lub peev xwm thiab kev xav tau.

Yog koj muaj lus nug ntxiv txog qhov no, tsis txhob yig nrog koj tus kws kho mob tham.

Jacobsen Syndrome, chromosome abnormality, chromosome 11, kab mob caj ces, kev loj hlob qeeb, Paris-Trousseau syndrome, mob plawv yug los, kev sab laj txog caj ces