Miv tus quaj syndrome - yog dab tsi?

CRI du sib tham (los yog Lejeune syndrome) - genetic kab mob uas yog tsis tshua muaj heev thiab yog txuam nrog lub fact tias tsis muaj ib feem ntawm chromosome 5. Cov me nyuam txom nyem los ntawm tus kab mob no, feem ntau quaj, thiab lawv lub suab hu zoo li lub suab quaj ntawm ib tug miv. Los ntawm no tuaj lub npe - tus miv lub suab quaj syndrome.

Qhov no syndrome tshwm sim nyob rau hauv ib tug me nyuam ib 50,000 yug. Nws tshwm sim nyob rau hauv txhua txhua haiv neeg feem ntau muaj feem xyuam rau cov poj niam txiv neej.

Thawj piav tus kab mob no yog Fabkis geneticist thiab cov menyuam yaus Zherom Lezhen. Qhov no tshwm sim nyob rau hauv 1963. Li no, lub thib ob lub npe ntawm tus kab mob.

cov tsos mob

Miv quaj syndrome tshwm sim vim muaj ib co teeb meem nrog lub paj hlwb thiab lub suab. Vim cov teeb meem no los ib tug quaj tus me nyuam, zoo heev rau cov yog ib tug uas tawm miv. Kwv yees li ib-feem-peb ntawm cov me nyuam nrog rau qhov no syndrome poob tus yam ntxwv feature (quaj) raws li thaum ntxov raws li ob lub xyoos.

Cov tsos mob uas tej zaum yuav qhia tau tias ib tug me nyuam CRI du tham:

- teeb meem nrog cov zaub mov, tshwj xeeb tshaj yog cov ntoo qhuav thiab nqos;

- ib tug me ntsis tus me nyuam hnyav thiab qeeb lub cev txoj kev loj hlob;

- ncua kev loj hlob ntawm kev hais lus, kev txawj ntse thiab lub zog khiav dej num;

- tus cwj pwm cov teeb meem: aggression, hyperactivity thiab taws;

- tej yam txawv ntawm lub ntsej muag nta uas tej zaum yuav ploj thaum lub sij hawm;

- cem quav;

- ntev salivation.

Nyob rau hauv tas li ntawd, cov raug cov tsos mob ntawm tus kab mob muaj xws li: hypotonia, microcephaly, kev loj hlob qeeb, lub round zoo ntawm lub ntsej muag, drooping fab ntawm lub qhov muag, tiaj ntswg choj, hla ob lub qhov muag, pob ntseg uas yog muaj tsawg tsawg heev, luv luv ntiv tes, thiab hais txog. Cov neeg uas muaj cov syndrome Lejeune feem ntau tsis muaj tej teeb meem nrog rau cov me nyuam system.

mob ntawm tus kab mob no

mob yog feem ntau yog ua nyob rau hauv lub hauv paus ntawm tus yam ntxwv cov tsos mob quaj thiab lwm yam kev mob uas tau teev tseg saum toj no. Nyob rau hauv tas li ntawd, cov tsev neeg, nyob qhov twg muaj cov twb cov neeg uas raug kev txom nyem los ntawm tus kab mob no, tej zaum yuav muaj kev tshuaj ntsuam genetic testing thiab kev txhawb tswv yim rau cov kawm ntawm dab tsi yuav yog tus syndrome uas cev xeeb tub.

Yuav ua li cas yog ib tug syndrome?

Tu siab, lub raug rau ib tug neeg txom nyem los ntawm CRI du sib tham, es disappointing. Tom qab tag nrho, lawv lub neej expectancy ho qis tshaj nyob rau hauv cov neeg noj qab. Ntxiv mus, cov neeg mob yuav tuag tsis tau tsuas yog los ntawm cov syndrome, tab sis kuj los ntawm qhov teeb meem uas nrog nws (lub raum thiab lub plawv tsis ua hauj lwm, kis kab mob).

Cov soj ntsuam daim duab ntawm tus neeg mob lub neej thiab lub sij hawm tej zaum yuav heev varied. Nws tag nrho cov nyob rau yuav ua li cas loj cuam tshuam rau hauv nruab nrog cev, tshwj xeeb tshaj yog lub plawv.

Ib tug tseem ceeb luag hauj lwm nyob rau hauv lub nce nyob rau hauv lub neej expectancy yog qhov zoo tshaj ntawm lub neej txhua hnub thiab kev kho mob. Tab sis nws yog tsim nyog sau cia hais tias feem ntau ntawm cov neeg mob tuag tsis pub dhau thawj ob peb xyoos ntawm nws lub neej. Tsuas yog 10% ntawm cov me nyuam tuag ua ntej 10 xyoo. Tab sis muaj, Txawm li cas los, ib tug neeg qhia ntawm cov neeg mob uas ciaj 50 xyoo los yog ntau tshaj. Yog li ntawd nws yog ib qho tseem ceeb heev tsis txhob poob kev cia siab.

Kev tiv thaiv thiab kev kho mob

Heev feem ntau, lub plawv tsis xws luag yuav tsum tau phais kho, thiaj li cov neeg muaj mob tus me nyuam yuav tsum muaj kev sib tham nrog tus xyuas mob kev phais thiab tshwj xeeb diagnostics, uas muaj lub npe ncha cardiography. Raws li xws li, muaj yog tsis muaj kev kho mob, tsuas yog symptomatic, vim hais tias cov teeb meem nrog rau cov chromosomes yuav kho tsis zoo los ntawm tej yam txoj kev, nws yog noob caj noob ces.

Cov neeg mob ua massages, ce, tshuaj tshuaj uas kov puas siab puas ntsws txoj kev loj hlob.

Yog hais tias koj xav kom tsis txhob muaj qhov teeb meem no ntawm tus me nyuam yug los, kev txom nyem los ntawm tej kab mob raws li CRI du sib tham, koj ob peb yuav tsum tau yauv mus ua kev tshuaj ntsuam genetic kev soj ntsuam thiab tau txais tswv yim pab. Tib txoj kev koj yuav tiv thaiv koj tus kheej los ntawm cov me nyuam yug ntawm ib tug terminally mob tus me nyuam. Thiab qhov no yog hauv tus npau suav ntawm txhua txhua ob peb, tsis tau koj?