Muaj ntau yam kab mob uas tib neeg tsis tshua muaj. Yog vim li ntawd ob peb tug neeg paub txog lawv. Wolf-Hirschhorn syndrome kuj yog cov teeb meem zoo li no. Dab tsi yog nws, tus kab mob no puas txaus ntshai thiab qhov kev cia siab rau lub neej ntawm cov neeg mob li cas - tag nrho cov no yuav tham ntxiv.
Cov ntaub ntawv tseem ceeb
Thawj pib, nws yuav tsum tau muab sau tseg tias xws li cov kab mob genetic pathology li Wolf-Hirshhorn syndrome tau piav qhia tsis ntev los no, xyoo 1965. Qhov no tau ua tiav ib txhij los ntawm ntau tus kws tshawb fawb German. Lub hauv paus ntawm qhov teeb meem no yog kev tshem tawm (tshwj xeeb chromosomal rearrangements, thaum ib feem ntawm chromosome tsuas yog ploj) ntawm caj npab luv ntawm 4th chromosome. Ntawd yog, vim qee yam kev hloov pauv caj ces, ib tus neeg ploj lawm ib feem ntawm cov lus piav qhia saum toj no 4th chromosome, uas ua rau muaj kev hloov pauv sab nraud thiab sab hauv. Thaum xub thawj, qhov teeb meem hu ua 4p-sydrome. Tom qab ntawd, pathology pib muaj npe tom qab cov npe ntawm cov kws tshawb fawb uas koom nrog hauv nws qhov kev tshawb pom.
Qee cov txheeb cais
Hma-Hirschhorn syndrome yog qhov tsis tshua muaj. Ntau zaus ntawm kev tshwm sim ntawm tus kab mob: ib kischromosomal hloov nyob rau hauv ib puas txhiab tus menyuam noj qab nyob zoo. Yog tias peb tham txog poj niam los txiv neej, feem ntau 4p-sydrome muaj nyob rau hauv cov ntxhais dua li cov tub. Yog tias koj saib ntawm qhov ntau npaum li cas, tom qab ntawd rau 75 tus ntxhais mob muaj txog 50 tus txiv neej cov menyuam uas muaj kab mob. Nws yuav tsum raug sau tseg tias cov kws tshawb fawb tsis tau piav qhia txog qhov tseeb no. Txawm li cas los xij, cov ntsuas no tseem ceeb heev rau lub ntiaj teb kev tshawb fawb, thiab cov kws tshaj lij tau ua haujlwm ntev los txheeb xyuas cov laj thawj tseem ceeb ntawm qhov kev hloov kho chromosomal no. Nws tseem yuav tsum raug sau tseg tias txog niaj hnub no, kwv yees li 130 tus neeg mob ntawm tus kabmob no tau piav qhia meej, uas txaus los kawm txog qhov teebmeem no.
Hais txog qhov ua rau tus mob ua rau menyuam yaus
Piav txog qhov teeb meem xws li Wolff-Hirschhorn syndrome, nws yog ib qho tseem ceeb uas yuav tau xav txog qhov ua rau nws tshwm sim thawj zaug. Thaum xub thawj, nws yuav tsum tau muab sau tseg tias cov kws tshawb fawb tsis tuaj yeem hais meej txog qhov ua rau sab nraud, xws li: tus cwj pwm phem lossis qhov tsis zoo ntawm niam txiv lub neej. Hauv qhov no, tej yam yuav nyuaj me ntsis.
Thawj pib, nws yuav tsum tau hais tias qhov mob no yog qhov txaus ntshai rau cov neeg mob uas muaj teeb meem nrog kev faib cov autosomes (paj chromosomes uas zoo ib yam hauv tib neeg lub cev, tsis hais poj niam txiv neej, tsis zoo li kev sib deev chromosomes). Wb delve me ntsis rau hauv tshuaj. Cov kws tshawb fawb tau sib cav tias qhov pathology no tshwm sim nyob rau hauv qhov kev tshwm sim ntawm qhov poob ntawm 4p16 ntu (hauv qhov no, qhov poob ntawm 4p12-4p15 particles provokes qhov tshwm sim ntawm qhov sib txawv kiag li ntawm cov tsos thiab lub cev sab hauv). Nws tseem ceeb heev uas yuav tsum nco ntsoov tiasHauv qhov no, heredity plays lub luag haujlwm loj. Yog li, niam lossis txiv ntawm cov menyuam uas muaj qhov kev kuaj mob no yuav tsum muaj tus kabmob ntawm cov kev hloov kho tshiab no.
Lub ntsiab lus tom ntej uas yuav tsum tau sau tseg: qhov ua rau ntawm tus mob tuaj yeem yog lub nplhaib chromosomes 4p- (qhov no, lawv tsis faib longitudinally, raws li nws yuav tsum tau, tab sis transversely). Nws yuav tsum tau hais tam sim ntawd nrog kev txhim kho ntawm cov xwm txheej hauv cov neeg mob me, cov tsos mob ntxiv yog qhov txawv uas tsis yog yam ntxwv ntawm 4p- tshem tawm.
daim ntawv kho mob tseem ceeb
Wolf-Hirschhorn syndrome zoo li cas? Cov tsos mob uas tshwm sim nrog qhov teeb meem no thiab yog cov cim qhia txog kev kuaj mob txawv. Txawm li cas los, nyob rau hauv luv luv, qhov no pathology yog yus muaj los ntawm kev ncua tsis tau tsuas yog nyob rau hauv lub cev, tab sis kuj nyob rau hauv lub psychomotor kev loj hlob ntawm tus me nyuam. Nov yog qhov chaw kho mob tseem ceeb ntawm qhov teeb meem.
Symptoms
Nco ntsoov qhia seb cov tsos mob twg nrog Wolf-Hirschhorn syndrome. Yog li, lawv tuaj yeem raug txheeb xyuas tias yog tag nrho cov complex. Txawm li cas los xij, nws yuav tsum tau muab sau tseg tias nws kuj tshwm sim hais tias nyob rau hauv ib tug me nyuam lub pathology yog yuav luag imperceptible, thiab tsis muaj kev hloov loj nyob rau hauv tsos. Cov tsos mob tseem ceeb ntawm tus mob yog raws li nram no:
- Uncharacteristic qauv ntawm pob txha taub hau, los yog hu ua "warrior's kaus mom hlau". Tus me nyuam yuav muaj lub qhov ntswg zoo li tus beak. Lub auricles ua loj heev, protrude. Tej zaum kuj yuav muaj hypertelorism, thaum qhov kev ncua deb ntawm ob lub qhov muag nce mus rau qhov txawv txav. Lub qhov muag lawv tus kheejkuj tseem yuav txhim kho tsis raug.
- Microcephaly, thaum lub pob txha taub hau ntawm tus menyuam muaj mob me dua li qhov noj qab nyob zoo. Lub hlwb kuj txo qhov loj.
- Convulsive Syndrome, uas yog, cov tshuaj tiv thaiv tsis tshwj xeeb ntawm tus menyuam rau ntau yam stimuli sab nraud. Lub sijhawm no, tus menyuam tseem yuav tuag.
- Lub palate, tus nplaig lossis daim di ncauj sab sauv yuav tsis kho, qee zaum clefts.
Cov kab mob hauv nruab nrog cev
Qee zaus Wolff-Hirschhorn syndrome tshwm sim yam tsis muaj kev puas tsuaj rau lub cev. Txawm li cas los xij, feem ntau lawv kuj hloov pauv vim kev faib cov chromosomes tsis raug. Yuav ua li cas tshwm sim?
- Feem ntau lub plawv raug kev txom nyem, txhua yam ntawm lub cev tsis xws luag tshwm sim.
- Muaj peev xwm pathologies hauv kev loj hlob ntawm lub raum. Muaj cystic dysplasia (thaum tsim ntawm lub raum parenchyma cuam tshuam), hypoplasia (kev txhim kho ntawm lub cev tag nrho lossis nws cov ntaub so ntswg). Tsis tshua muaj tshwm sim yog lub raum agenesis, polycystosis (ntau hlwv hauv lub raum cov ntaub so ntswg), pelvic dystopia ntawm ob lub raum thiab lwm yam pathologies hauv kev loj hlob ntawm lub cev.
- Kab mob plab feem ntau raug kev txom nyem ib yam nkaus. Ntawm cov teeb meem yog aplasia ntawm lub gallbladder (congenital absence), hernia ntawm txoj hnyuv me, txav ntawm caecum.
- cheeb tsam cross-coccygeal kuj deformed, qhov twg funnels lossis irregularly zoo li kev nyuaj siab tuaj yeem tsim.
Nws tseem yuav tsum tau muab sau tseg tias nrog tus mob no, tus menyuam yug los nrog lub cev hnyav hnyav. Thiab qhov no txawm tias tus niamnqa tus me nyuam mus puv sij hawm, 40 lub lis piam.
Kev loj hlob ntawm kev xav
Dab tsi yog qhov tshwj xeeb ntawm Wolf-Hirschhorn syndrome? Karyotype, uas yog, txheej ntawm chromosomes, tsis tiav, deformed. Yog li ntawd, ntxiv rau qhov sib txawv ntawm kev loj hlob ntawm lub cev, kev puas siab puas ntsws kuj tau pom. Nws tuaj yeem mob me, nruab nrab lossis hnyav. Nws yuav tsum raug sau tseg tias sab ntawm pathologies tseem tsis tau kawm zoo, cov kws tshawb fawb tseem ua haujlwm hauv qhov kev taw qhia no. Tab sis twb muaj pov thawj tias hypoplasia ntawm cerebellum lossis corpus callosum tuaj yeem txhim kho, uas cuam tshuam rau kev ua haujlwm ntawm lub hlwb. Nyob rau tib lub sijhawm, kuv xav kom nco ntsoov tias qee zaum cov neeg mob kuj muaj kev puas siab puas ntsws loj heev, vim tias cov menyuam yaus no tuaj yeem koom nrog hauv zej zog, kev sib raug zoo.
Diagnosis
Hma-Hirschhorn syndrome tuaj yeem kuaj tau li cas? Cov kws kho mob muaj ntau yam laj thawj xav tias ib yam dab tsi tsis ncaj ncees lawm. Thawj qhov uas obstetrician tau saib xyuas yog qhov hnyav ntawm tus menyuam thaum yug los. Cov menyuam yaus tom qab tau txais qhov kev kuaj mob no yog yug los nrog lub cev hnyav hnyav, txog li 2 kg. Tsis tas li ntawd, vim li cas thiaj tsis ntseeg qhov kev loj hlob ntawm tus me nyuam ib txwm yog qhov pom ntawm tus menyuam mos. Yog tias peb tham txog kev kuaj mob, ces nws txawv nyob rau tib lub sijhawm nrog kev kuaj mob ntawm Patau's Syndrome (qhov muaj cov chromosome 13th ntxiv hauv cov hlwb, uas ua rau muaj cov tsos mob zoo sib xws). Txawm li cas los xij, qhov no yuav muaj qhov sib txawv tseem ceeb, xws li, piv txwv li, muaj cov qauv tshwj xeeb ntawm daim tawv nqaij, hu ua dermatoglyphics hauv tshuaj.
Tests
Txhawm rau kuaj mob, kev tshawb fawb cytogenetic tau ua tiav, thaum lub sijhawm ua txhaum ntawm chromosomes raug txiav txim. Hauv qhov no, qhov kev kuaj mob tau lees paub hauv kwv yees li 60% ntawm cov neeg mob. Ib subspecies ntawm txoj kev tshawb no yog qhov hu ua FISH txoj kev, thaum kws kho mob txiav txim siab qhov tsis tshwj xeeb ntawm chromosomes hauv DNA.
Lwm cov kev tshawb fawb tuaj yeem raug sau tsuas yog los txiav txim qhov ua txhaum ntawm cov kab mob hauv nruab nrog cev, pathologies hauv lawv txoj kev loj hlob. Yog li, qhov no yuav xav tau ECG thiab EchoCG, ultrasound, X-ray, CT lossis MRI.
Kev kho mob
Peb xav ntxiv txog Wolf-Hirschhorn syndrome. Kev kho ntawm qhov teeb meem no yog qhov yuav tsum tau hais. Raws li nws tau dhau los ua qhov tseeb, qhov no yog ib qho kab mob hauv caj ces, uas tsis tuaj yeem daws tau tag nrho. Tsis muaj kev kho mob zoo li no. Txawm li cas los xij, cov kws kho mob ua cov tsos mob kho, coj cov rog los txhawb kev ua haujlwm ntawm cov kabmob uas puas lawm. Kev sab laj txog caj ces kuj tau qhia rau qhov teeb meem no. Hauv qhov no, leej niam thiab leej txiv ntawm tus menyuam muaj mob raug kuaj xyuas. Qee zaum kev phais yuav raug qhia kom normalize kev ua haujlwm ntawm cov kab mob hauv nruab nrog cev.
Tus neeg mob kwv yees lub neej
Wolf-Hirschhorn Syndrome txaus ntshai npaum li cas? Cov duab ntawm cov neeg mob nrog qhov kev kuaj mob no qhia tias cov menyuam yaus uas muaj qhov teeb meem no feem ntau zoo li txawv ntawm cov neeg zoo tib yam. Qhov no plays lub luag hauj lwm loj nyob rau hauv lub socialization ntawm xws li ib tug neeg. Txawm li cas losFeem ntau cov neeg uas muaj qhov kev kuaj mob no yog qhov tshwm sim los ua cov tswv cuab hauv zej zog. Nyob rau tib lub sijhawm, nws yuav tsum raug sau tseg tias qhov kev pheej hmoo siab tshaj plaws ntawm kev tuag rau cov menyuam yaus yog thawj xyoo ntawm lub neej. Qhov no yog qhov tseeb tshwj xeeb yog tias muaj kev puas tsuaj rau kev ua haujlwm ntawm lub plawv. Txog rau hnub tim, ib rooj plaub ntawm kev ua neej ntev nrog cov kab mob no tau raug kaw hauv peb lub tebchaws. Tus txiv neej no muaj peev xwm mus txog 25 xyoo. Txawm li cas los xij, cov xwm txheej zoo li no muaj tsawg heev. Cov kws kho mob nco ntsoov tias qee cov neeg mob (cov menyuam mos) tuag ua ntej qhov kev kuaj mob no. Yog li kev tuag hauv thawj xyoo ntawm lub neej ntawm cov menyuam yaus nrog cov kab mob no yuav muaj ntau dua li qhov kev xav tau tam sim no.
