Yuav ua li cas yog Beckwith Wiedemann syndrome, yuav ua li cas nws manifests nws tus kheej?

Feem ntau cov neeg yeej tsis tau hnov ntawm xws li ib tug kab mob raws li Beckwith Wiedemann syndrome, tab sis nws tsis tshwm sim heev tsis tshua muaj. Raws li statistics, ib tug xws li tus me nyuam yug nyob rau hauv nruab nrab rau txhua txhua 13.700 cov me nyuam mos. Lub syndrome tshwm sim raws li ib tug tshwm sim ntawm cov kev hloov nyob rau hauv chromosome 11, uas yog ib tug kev tshuaj ntsuam genetic tus kab mob. Twv seb qhov tshwm sim ntawm xws li ib tug kab mob nyob rau hauv ua ntej yog yuav luag tsis yooj yim sua. Kwv yees li 85% ntawm cov niam txiv ntawm tus me nyuam yeej tsis muaj haiv neeg twg irregularity hais txog noob caj noob ces. Tab sis nyob rau hauv seem 10-15% ntawm Beckwith Wiedemann syndrome yog pub. Yuav ua li cas koj yuav tsum paub txog tus mob no, nws qhia li cas cov kev kho mob thiab kev kho mob ntawm tus me nyuam - tag nrho cov no thiab peb mam li tham hnub no.

Yuav ua li cas yog no

Beckwith Wiedemann syndrome - qhov no yog tsis muaj dab tsi tab sis ib tug ua txhaum ntawm cov kev cai ntawm txoj kev loj hlob. Tus kab mob tej zaum yuav muaj cov yam ntxwv nta, tab sis yuav tshwm sim thiab yog kiag li pob tshab. Feem ntau txhais externally, thaum tus me nyuam mos yug los loj (macrosomia) uas ntau tshaj 4 kg thiab ib qho kev nce ntawm ntau tshaj 56 cm. Nyob rau hauv cov me nyuam yuav ua tau disproportionate thiab kauj ntau qhov chaw ntawm lub cev, xws li ib tug loj tus nplaig (macroglossia), los yog tej yam txawv, loj pob ntseg los yog lawv heev daim ntawv unnaturally curvy lub puab tsaig thiab thiaj li nyob. Feem ntau nrog los ntawm cov tsis xws luag ntawm lub peritoneum (diastasis nqaij, txoj hlab hernia), lub raum mob, cov me nyuam predisposed mus hlav. Tej zaum lawv yuav tau nce ib co hauv nruab nrog cev, mob plawv tshwm sim. Cov me nyuam raug kev txom nyem los ntawm hypoglycemia (tsis tshua muaj ntshav qab zib), qaug dab peg yuav tshwm sim nyob rau hauv no paus. Nyob rau hauv loj heev zaum, yuav tshwm sim tau neeg tuag taus.

Huab cua rau lub neej

Cov me nyuam no sib txawv los ntawm lawv cov phooj ywg: lawv yog cov ntau loj, ntau dua, thiab lawv sai sai tsim pob txha loj. Thaum tus kab mob no yog tsis qhia sharply, raws sij hawm tsim nyog pab cov kws kho mob thiab txaus mob tau muab - lub forecast yog heev paaj. Thaum lub sij hawm, ib tug txawv txawv txoj kev loj hlob thiab kev loj hlob slows cia lawm, lub cev loj thiab proportions thaws rov qab. Kom meej meej nws qhia tau hais tias yuav ua li cas qhia nws Beckwith Wiedemann syndrome, cov duab thiab cov duab, hauv qab no nws. Lawv yog cov kom meej meej pom tej yam tshwm sim ntawm tus kab mob: mob taub hau me ntsis, macroglossia, txoj hlab hernia nyob rau hauv ib tug me nyuam.

Yuav ua li cas qhia hais tias

tshuaj ntsuam genetic testing system rau tau mutational sib txawv yog heev nyuab, tab sis nws yuav pab tau kom paub tias hais txog 80% ntawm cov neeg. Cov niam txiv yuav tsum mus ntsib ib tug kws kho mob-geneticist, uas yuav tswj xyuas cov nqe vaj lug kub ntawm txoj kev tshawb thiab yuav muab ib tug tag nrho cov kev sib tham txog tus neeg cov ntaub ntawv.

Peb muaj ib tug cev xeeb tub poj niam muaj peev xwm kuj qhia Beckwith Wiedemann syndrome. Cov tsos mob tej zaum yuav tsiag ntawv los ntawm ntau yam teeb meem uas cev xeeb tub. Feem ntau, qhov no nce nqi ntawm amniotic kua ib ncig ntawm lub fetus, txoj kev yuav txo ntev, loj txoj hlab ntaws los yog tsev me nyuam, ho tsub kom kev pheej hmoo ntawm ntxov ntxov yug. Nov ntawm hloov tshwm sim nyob rau lub sij hawm ntawm ultrasound.

kev kho mob

Txo mus rau ib tug qhov tswj cov kev kho mob ntawm tus me nyuam thiab muab nws qhov tsim nyog tau kev pab nyob rau hauv tus neeg mob. Yuav tsum saib xyuas cov ntsiab lus ntawm calcium nyob rau hauv cov ntshav thiab qab zib. Qhov uas hlav nyob rau hauv cov neeg uas yog hais txog 8%, nws yuav tsum tau nco ntsoov hais tias, thiab nyob rau slightest suspicion thov kev pab thoob plaws lub neej. Txawm li cas los, nyob rau hauv Feem ntau, kev kho mob yog muaj kev vam meej. Cov neeg laus uas thaum yug los twb mob Beckwith Wiedemann syndrome, tawm tswv yim nyob rau hauv tus txheej xwm thiab muaj lub neej zoo tshuav heev zoo. Lawv tsis raug kev txom nyem ruaj noj qab haus huv tej teeb meem thiab ua ib tug tag nrho lub neej.

Cov me nyuam mos txom nyem los ntawm makrogloksii muab phais pab kho qhov zoo ntawm cov lus. Tom qab tag nrho, lub pathology yuav ua tau ib tug loj teeb meem thaum uas pub mis rau tus me nyuam, pab rau ua pa tsis ua hauj lwm, thiab nyob rau hauv lub neej yav tom ntej tseem yuav muaj rau lub suab zoo. Cov teeb meem tib yam yog solved nrog ib tug hlab hernia los yog lwm yam kev hloov nyob rau hauv lub hauv nruab nrog cev. Nws yuav tsum tau kev pab los ntawm ib tug podiatrist thiab immunologist.

Cov me nyuam yog tus yuav tsum tau niam txiv kev kho mob. Tsis txhob hypothermia, drafts thiab tag nrho cov xaiv ntawm kab mob. Cov me nyuam nrog rau qhov no syndrome feem ntau muaj tiv thaiv kab mob raug, thiab vim hais tias tej no, txawm tus mob khaub thuas yuav ua rau loj teeb meem. Thaum lub slightest teeb meem, nrhiav kev pab los ntawm ib tug kws kho mob.

Puas yuav ua tau kom tiv thaiv tau

Qhia cov caj hloov ntawm chromosomes los ntawm lawv niam lawv txiv, thiab yog li ntawd kwv yees cov me nyuam yug ntawm ib tug me nyuam nrog cov syndrome yuav tsuas yuav ua ua ntej kev ntsuam xyuas ua ntej npaj cev xeeb tub. Tab sis heev ob peb cov tub ntxhais tsev neeg yuav tau xav txog nws tom qab lub tshoob. Feem ntau cov neeg paub txog qhov no nws "kev" tom qab yug tus me nyuam ntawm ib tug me nyuam nrog tej yam tshwm sim ntawm Beckwith Wiedemann. Cov kev hloov yog kis tau nyob rau hauv ib tug autosomal hom qub txeeg qub teg hom. Uas yog, yog tias muaj ib yam ntawm cov ntshav txheeb ze - koj los yog koj tus txij nkawm - muaj xws li ib tug ua txhaum cai yog tus tub los yog tus ntxhais ib lub caij tau syndrome "pub" yog 50%. Tu siab, kom daws tau qhov teeb meem nrog cov tshuaj yog tsis tau tau. Lub tsuas tshuaj nyob rau hauv qhov teeb meem no tej zaum yuav txheej txheem ntawm IVF fertilization.