Thaum koj tus menyuam loj dua lwm tus menyuam thaum nws yug los, puas yog koj tus menyuam loj dua lwm tus? Thaum qhov ntawd tshwm sim, koj yuav zoo siab, tab sis koj kuj yuav xav paub me ntsis, tej zaum yuav ntxhov siab, xav tias, "Vim li cas kuv tus menyuam thiaj loj ua luaj?" Feem ntau, qhov no tsuas yog vim koj yug los nrog tus menyuam siab thiab noj qab nyob zoo. Txawm li cas los xij, tsis tshua muaj, qhov no tuaj yeem tshwm sim los ntawm ib qho mob caj ces tsis tshua muaj. Niaj hnub no, peb tab tom tham txog ib qho mob zoo li no, Beckwith-Wiedemann Syndrome (BWS) . Tsis txhob ntshai hnov lub npe no. Yog tias koj paub txog qhov no, koj thiab koj tus kws kho mob tuaj yeem ua haujlwm ua ke los saib xyuas koj tus menyuam kom zoo.
Hais yooj yim xwb, Beckwith-Wiedemann Syndrome (BWS) yog dab tsi?
Qhov no yog ib qho mob caj ces uas tsis tshua muaj. Qhov uas tshwm sim yog qee cov noob caj ces uas cuam tshuam rau kev loj hlob ntawm tus menyuam lub cev ua haujlwm ntau dhau. Yog li ntawd, qee qhov ntawm tus menyuam lub cev lossis tag nrho lub cev loj hlob sai dua li qub.
Qhov no kuj hu ua "Beckwith-Wiedemann spectrum." "Spectrum" txhais tau tias zoo li ib qho spectrum. Qhov no txhais tau tias tus mob tsis cuam tshuam rau txhua tus menyuam tib yam. Qee tus menyuam yuav muaj ib lossis ob qho ntawm cov tsos mob cuam tshuam nrog qhov no. Lwm tus menyuam yuav muaj ntau cov tsos mob. Yog li ntawd, tsis muaj ob tus menyuam uas muaj tus mob no zoo ib yam.
Qhov tseem ceeb yog tias txawm hais tias tsis muaj kev kho mob tas mus li rau tus mob no los xij, muaj kev kho mob zoo heev los tswj cov tsos mob thiab tiv thaiv cov teeb meem. Yog tias muaj kev kho mob zoo, feem ntau ntawm cov menyuam no yuav nyob tau lub neej zoo li qub thiab noj qab nyob zoo.
Cov yam ntxwv tseem ceeb ntawm tus mob no yog dab tsi?
Zoo li peb tau hais ua ntej lawm, tsis yog txhua tus menyuam yuav muaj tag nrho cov tsos mob no. Tab sis muaj ob peb yam uas pom ntau. Koj tus kws kho mob yuav xav tias BWS yog tias lawv pom ib lossis ntau yam ntawm cov tsos mob no.
| Yam ntxwv | Piav qhia yooj yim |
|---|---|
| Loj dua li qub (Macrosomia) | Thaum yug los, lawv qhov hnyav thiab qhov siab siab dua li cov menyuam yaus ib txwm. Lawv siab dua li lwm cov menyuam yaus uas muaj hnub nyoog zoo sib xws. Txawm li cas los xij, qhov kev loj hlob sai no feem ntau qeeb qeeb thaum muaj hnub nyoog 8 xyoos, thiab lawv rov qab mus rau qhov siab ib txwm thaum lawv laus. |
| Tus nplaig loj (Macroglossia) | Tus nplaig loj dua li qub. Qhov no ua rau tus menyuam nyuaj rau haus mis thiab tom qab ntawd hais lus. Qee zaum, ua pa nyuaj kuj tshwm sim. |
| Teeb meem ntawm phab ntsa plab (Omphalocele / Umbilical Hernia) | Omphalocele: Ib qho mob uas cov hnyuv ntawm tus menyuam, zoo li cov hnyuv, tawm hauv lub ntaws thiab raug npog los ntawm ib daim nyias nyias es tsis yog nyob hauv lub plab. Umbilical Hernia: Ib qho mob uas cov nqaij hauv plab tawm hauv lub ntaws. Cov no tuaj yeem kho tau los ntawm kev phais. |
| Kev loj hlob ntawm ib sab ntawm lub cev (Hemihyperplasia) | Ib sab ntawm lub cev (piv txwv li, sab xis) loj dua sab tod (sab laug). Qhov no tsuas yog txwv rau tag nrho sab lossis tsuas yog ib sab caj npab lossis ceg xwb. |
| Cov ntshav qab zib qis (Hypoglycemia) hauv cov menyuam mos | Nyob rau thawj ob peb hnub lossis ob peb lub lis piam tom qab yug los, cov ntshav qab zib ntawm tus menyuam tuaj yeem poob qis heev. Kev tswj hwm qhov dej no yog qhov tseem ceeb rau kev loj hlob ntawm lub hlwb. |
| Lwm yam nta | Tej zaum yuav pom daim siab loj (hepatomegaly), lub raum tsis zoo, thiab cov qhov me me lossis cov pob ntseg me me. |
Peb puas yuav tsum ntshai tsam muaj mob qog noj ntshav tiag?
Qhov no yog lub ncauj lus uas ua rau cov niam txiv ntshai tshaj plaws thaum nws los txog rau BWS. Yog lawm, cov menyuam yaus uas muaj BWS muaj feem yuav mob qog nqaij hlav thaum yau ntau dua (tshwj xeeb yog qog nqaij hlav Wilms, qog nqaij hlav raum, thiab qog nqaij hlav siab) dua li lwm cov menyuam yaus.
Tiam sis, peb yuav tsum nkag siab ob peb yam kom meej meej ntawm no.
1. Txawm hais tias qhov kev pheej hmoo siab heev los, feem ntau nws tseem tsawg. Qhov kev pheej hmoo no cuam tshuam rau kwv yees li 7-8 ntawm 100 tus menyuam uas muaj BWS.
2. Qhov kev pheej hmoo no siab tshaj plaws hauv 8 xyoo thawj zaug ntawm lub neej. Tom qab ntawd, qhov kev pheej hmoo txo qis ntau heev.
3. Qhov tseem ceeb tshaj plaws - mus kuaj mob tsis tu ncua!Vim cov kws kho mob paub txog qhov kev pheej hmoo no, txhua tus menyuam mos uas muaj BWS raug kuaj xyuas raws sijhawm. Feem ntau, kev ntsuas ultrasound plab thiab kev kuaj ntshav (AFP test) raug ua txhua peb lub hlis.
Qhov zoo tshaj plaws ntawm kev kuaj mob tsis tu ncua no yog tias, yog tias mob qog noj ntshav tshwm sim, nws tuaj yeem kuaj pom thaum ntxov. Tom qab ntawd , qhov muaj feem yuav kho tau tag nrho nrog kev kho mob yog siab heev. Yog li ntawd, qhov tseem ceeb tshaj plaws yog tsis txhob ntshai qhov no tsis tsim nyog, tab sis kom ua tiav kev kuaj mob raws sijhawm raws li tus kws kho mob cov lus qhia.
Vim li cas qhov no thiaj tshwm sim? Yog vim li cas?
Qhov laj thawj rau qhov no nyuaj me ntsis. Txhua lub cell hauv peb lub cev muaj ib yam dab tsi hu ua chromosomes. Cov no zoo li cov phau ntawv qhia rau kev tsim peb lub cev. Hauv BWS, muaj kev hloov pauv hauv kev ua haujlwm ntawm ntau lub noob caj noob ces ntawm chromosome 11 uas tswj kev loj hlob.
Hais yooj yim xwb, cov noob caj noob ces uas "tswj" kev loj hlob yuav ntsiag to me ntsis, thiab cov noob caj noob ces uas "tsav" kev loj hlob yuav ua haujlwm ntau dua. Qhov no hu ua genomic imprinting .
- Qhov no feem ntau yog qhov sib xws: kwv yees li 85% ntawm cov menyuam yaus uas muaj BWS tsis muaj keeb kwm tsev neeg ntawm tus kab mob no. Qhov no txhais tau tias qhov kev hloov pauv caj ces no tshwm sim los ntawm txoj hmoo, tsis muaj kev npaj ua ntej.
- Tsis tshua muaj los ntawm niam txiv: Muaj ib feem pua me me, kwv yees li 10-15%, uas yuav tau txais kev hloov pauv caj ces uas cuam tshuam nrog tus mob no los ntawm ib tug ntawm lawv niam lawv txiv.
- Txuas rau ART: Kev tshawb fawb tau qhia tias cov menyuam yaus uas xeeb tub los ntawm kev siv tshuab pab yug me nyuam (ART), xws li IVF (In Vitro Fertilization) , muaj kev pheej hmoo me ntsis ntawm kev mob zoo li BWS. Txawm li cas los xij, kev tshawb fawb txog qhov txuas no tseem tab tom ua mus.
Cov kws kho mob kuaj qhov no li cas? (Kev kuaj mob)
BWS tuaj yeem kuaj pom ua ntej lossis tom qab tus menyuam yug los.
Kev kuaj mob ua ntej yug menyuam
Thaum lub sijhawm kuaj ultrasound thaum cev xeeb tub, tus kws kho mob yuav xav tias BWS yog tias nws pom cov hauv qab no:
- Tus me nyuam loj dua li qub.
- Ntau ntxiv cov kua dej amniotic nyob ib puag ncig tus menyuam (polyhydramnios)
- Kev loj hlob ntawm lub placenta
- Kev loj hlob ntawm lub raum (nephromegaly)
- Teeb meem ntawm phab ntsa plab (omphalocele)
Yog koj pom cov tsos mob no, koj tus kws kho mob tuaj yeem lees paub qhov mob los ntawm kev ua qhov kev kuaj tshwj xeeb txog noob caj noob ces, xws li amniocentesis (kev kuaj kua amniotic).
Tom qab tus menyuam yug los (Postnatal Diagnosis)
Tom qab tus me nyuam yug los, tus kws kho mob yuav kuaj tus me nyuam thiab nrhiav cov tsos mob ntawm lub cev uas peb tau tham ua ntej (tus nplaig loj, ib sab ntawm lub cev loj zuj zus, thiab lwm yam). Yog tias muaj kev tsis ntseeg, yuav muab cov ntshav ntawm tus me nyuam coj mus kuaj thiab yuav kuaj xyuas caj ces tshwj xeeb kom paub tseeb tias tus me nyuam puas muaj BWS thiab yog vim li cas.
Cov kev kho mob yog dab tsi? (Kev kho mob)
Vim tias BWS tuaj yeem cuam tshuam rau ntau qhov ntawm lub cev, ib tug menyuam mos tsis raug kho los ntawm ib tus kws kho mob xwb. Ib pab pawg kws tshwj xeeb, suav nrog kws kho menyuam yaus, kws phais, thiab kws kho kev hais lus, yuav saib xyuas tus menyuam mos.
Kev kho mob yog txiav txim siab raws li tus menyuam cov tsos mob.
| Teeb meem | Kev kho mob thiab kev tswj hwm |
|---|---|
| Ntshav Qab Zib Qis (Hypoglycemia) | Muab cov glucose (qab zib saline) los ntawm cov leeg ntshav, pub mis nyuj ntau zaus, thiab qee zaum muab tshuaj. Qhov no kho tau zoo heev hauv tsev kho mob. |
| Tus nplaig loj (Macroglossia) | Siv cov txiv mis tshwj xeeb rau kev pub niam mis, kev kho kev hais lus, siv lub tshuab CPAP yog tias muaj teeb meem ua pa thaum pw tsaug zog. Tej tus menyuam yuav tsum tau phais kom txo tus nplaig. |
| Teeb meem ntawm phab ntsa plab (Omphalocele) | Tom qab tus me nyuam yug los tam sim ntawd lossis tsis ntev tom qab ntawd, cov noob caj noob ces uas tawm los raug phais muab tso rov qab rau hauv lub plab thiab phab ntsa plab raug kaw. |
| Kev loj hlob ntawm ib sab ntawm lub cev (Hemihyperplasia) | Yog tias muaj qhov sib txawv ntawm qhov ntev ntawm ob txhais ceg, nws tuaj yeem kho tau los ntawm kev siv khau tshwj xeeb (orthotics). Tus kws kho mob yuav saib xyuas qhov kev loj hlob no tas li. |
| Kev pheej hmoo ntawm mob qog noj ntshav | Txog thaum muaj hnub nyoog li ntawm 8 xyoos, yuav tsum tau kuaj mob plab ultrasound thiab kuaj ntshav (AFP) txhua 3 lub hlis. |
Tus me nyuam yuav muaj lub neej yav tom ntej zoo li cas? (Kev kwv yees)
Qhov no tej zaum yuav yog lo lus nug loj tshaj plaws uas koj xav txog. Txawm hais tias BWS yog ib qho mob nyuaj, feem ntau ntawm cov menyuam yaus uas muaj tus mob no nyob zoo, zoo siab, thiab ua neej zoo li qub.
Muaj ntau yam uas txiav txim siab txog yav tom ntej ntawm tus menyuam:
- Cov tsos mob uas tus me nyuam muaj yog dab tsi thiab lawv hnyav npaum li cas?
- Kev kuaj mob tau sai npaum li cas.
- Seb kev kho mob thiab kev kuaj mob qog noj ntshav puas tau ua tiav raws sijhawm.
Yog tias kuaj pom tus kab mob thaum ntxov, kho kom zoo, thiab saib xyuas tus kws kho mob tas li, tus menyuam yuav tau txais txiaj ntsig zoo heev.
Thaum koj pom tias koj tus menyuam muaj BWS, koj yuav xav tsis thoob, tu siab, thiab ntshai. Nws yog ib qho ib txwm muaj. Tej zaum koj yuav muaj ntau lo lus nug. Tham nrog koj tus kws kho mob txog txhua yam no. Nws yuav muaj peev xwm muab kev nkag siab zoo tshaj plaws rau koj txog tus mob tshwj xeeb ntawm koj tus menyuam. Nco ntsoov, koj tsis nyob ib leeg. Muaj ib pab kws kho mob zoo heev uas tuaj yeem pab koj. Ua ke, koj tuaj yeem tsim ib puag ncig zoo tshaj plaws rau koj tus menyuam kom loj hlob zoo siab thiab noj qab nyob zoo.
Cov Lus Qhia Txog Kev Coj Mus Tsev
- Kab mob Beckwith-Wiedemann Syndrome (BWS) yog ib yam mob caj ces uas tsis tshua muaj thiab cuam tshuam rau txoj kev loj hlob ntawm ib tug menyuam. Nws tsis cuam tshuam rau txhua tus menyuam tib yam.
- Cov yam ntxwv tseem ceeb suav nrog loj dua li qub, tus nplaig loj, teeb meem ntawm phab ntsa plab, thiab ib sab ntawm lub cev loj tuaj.
- Cov menyuam yaus uas muaj BWS muaj feem yuav mob qog noj ntshav ntau dua me ntsis thaum lawv tseem yog menyuam yaus, tab sis kev kuaj mob tsis tu ncua tuaj yeem kuaj pom lawv thaum ntxov thiab kho tau lawv tag nrho.
- Txawm hais tias tsis muaj kev kho mob mus tas li rau tus mob no, muaj kev kho mob zoo heev rau cov teeb meem uas tshwm sim.
- Yog tias muaj kev kho mob thiab kev saib xyuas zoo, feem ntau cov menyuam yaus uas muaj BWS yuav nyob tau lub neej zoo li qub, noj qab nyob zoo, thiab muaj lub neej puv npo. Nws yog ib qho tseem ceeb uas yuav tsum ua haujlwm nrog koj tus kws kho mob.
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Tsis muaj lus teb tau muab tso tawm. Ntxiv koj cov lus tawm ntawm no thawj zaug.
Ntxiv koj cov lus