The syndrome of Waardenburg: zviratidzo, zvikonzero, rudzi rwefa

Imwe yemapoka ezvirwere ndeyekusangana kwepabonde. Muzviitiko zvakawanda, hazvigone kuvadzivirira. Pamusoro pemamiriro akadaro anozivikanwa mushure mokuberekwa kwechecheche. Zvirwere zveGenesis zvinoratidzwa nezviratidzo zvakasiyana-siyana. Muzviitiko zvakawanda, izvi zviri nhengo dzomukati uye kunze kwekunze. Imwe ye congenital pathologies ndiyo chirwere cheWardenarden. Iine unhu hunoshandiswa hunosiyanisa kubva kune dzimwe maitiro ekuremera. Izvi zvinosanganisira: kunzwa kutadza, mavara akasiyana-siyana, kuratidzika kwevarwere. Kunyatsoongorora chirwere ichi kunoda kuongororwa kwevanyori vanoverengeka.

Chii chinonzi syndrome ye Waardenburg?

Ichi chirwere hachishandisi kune zvisinganzwisisiki zvema genetic. Paavhareji, chiitiko chehutachiona ndechevana vachangoberekwa 4 000. Iyo syndrome yeWawardenburg inogona kunge yakambofungidzirwa inenge isati yasvika, nokuti inoratidziro inoratidzika ndeyekuratidza kushamisa kwechimiro checheche uye kurasikirwa kwekunzwa. Chirwere ichi chakatsanangurwa pakati pezana remakore rechimakumi maviri. Akazarura iyi maitiro ekurapa ophthalmologist kubva kuFrance kuVaardenburg. Akadzidza boka revana vaive nezvinhu zvakadaro sechiGiriki, maziso akajeka (pane dzimwe nguva, dzakasiyana) uye matsi. Mukuwedzera, chirwere chine zvimwe zvakawanda zvinoratidzwa, kusanganiswa kwacho kungave kwakasiyana.

Chirwere chacho chinowanikwa mune vose vasikana nevakomana. Chiitiko chechirwere hachina hukama nehutano uye nyika. Dambudziko rekudzivirira chirwere ichi rinokura zvakasimba kana pane chimiro chisina kunaka mune imwe yemhuri. Parizvino, kune marudzi akasiyana-siyana ehurwere yeWawardenburg. Chikamu chacho chinobva pakuchinja kwemajini.

Zvinokonzera kukura kwehutano

Chimwe chezvirwere zvinowanikwa munguva pfupi yapfuura inonzi syndrome yeWardenland. Mhando yenhaka yehutachiona hwehutachiona iyo inotenderera yakawanda. Izvi zvinoreva kukanganisa kukuru kwekutengesa zvipembenene zvisina kusimba kubva kuvabereki kuvana. Mikana yekuwana nhaka chirwere ichi 50%. Chikonzero chekuvandudzwa kwechirwere ichi kuchinja kune mamwe magenhi. Mumwe wavo ane basa rekuumba maranocytes - pigment cells. Kuchinja-chinja kwegene iri kunokonzera ruvara rwemavara asingaoneki uye heterochromia (mutoo wakasiyana weirises).

Dzimwe nguva chirwere chacho hachibatanidzi nematambudziko ekuberekwa. Mumamiriro ezvinhu akadaro, munhu haagoni kutaura nekuda kwechikonzero chinokonzerwa nehutachiona. Zvinonyatsozivikanwa kuti zvinowanzoitika panguva yekutambisa intrauterine. Zvinokonzera njodzi zvinosanganisira zvirwere zvinotapukira zvinowanikwa panguva yekuzvitakura. Uyewo, chinokonzera chinogona kunge chinokonzera kushungurudza, kudhakwa kwezvinodhaka, tsika dzakaipa, nezvimwewo.

Mhando dzakasiyana-siyana dzehutano

Iko kune marudzi mana e-syndrome yeWawardenburg. Dzinosarudzwa maererano nerudzi rwemhaka uye mararamiro emagetsi. Kazhinji kazhinji, rudzi rwekutanga rwehutano hunoitika. Iyo inoratidzwa nekuchinja kwegene MITF nePAX3, iri mune yechipiri chromosome. Mhando yenhaka ndiyo inoshandiswa pakuzvidzivirira. Iyo PAX3 gene inokonzera kugadzirwa kwechinyorwa chinodhindwa, iyo inotungamirirawo kutama kwemasero e-neural crest.

Rudzi rwechipiri rwechirwere cheWawardenburg runoonekwa mu20-25% emhosva. Zvirwere zvechipatara zvinowanikwa mu chromosome 3 ne8. Ikutanga - inobatanidzwa mukuumbwa kwemajeri e pigment. Yechipiri ndiyo inokonzera kukodha kwezvinhu zvinoshandisa kunyora kweprotein.

Pahutatu hwechirwere kune kukanganisa kwePAX3 gene. Urwu hutano hwehutano hunosiyana nekuoma kwekuyerera. Kusiyana nemhando yekutanga, mutendi wekutengesa hausi mu hetero-, asi muhurumende ye homozygous. Dzimwe nguva kune zvisizvo zvisina maturo.

Rudzi rwechina rwehutano runoratidzwa ne autosomal recessive nhaka. Ngozi yekuparadzirwa kwehutano ndeye 25%. Iyo isina kukwana geni inowanikwa munzvimbo yechikromosome 13. Inobatanidzwa mukuumbwa kweB-endothelin protein.

The syndrome of Waardenburg: zviratidzo zvechirwere

Kune zvikwereti zvakakura uye zviduku zvehutano. Yokutanga inowanikwa mune dzakawanda. Izvi zvinosanganisira:

1. Heterochromy. Vanhu vane mavara akasiyana-siyana vanoumba anenge 1% yehuwandu hwehuwandu hwePasi. Heterochromia haisi nguva dzose inobatanidza ne pathological syndrome.
2. Offset yemukati yesiso angle. Ichi chinoshamisa chinonzi "terevhizheni".
3. Buru bhuruu ruvara rwe iris.
4. Kuva nechigamba chemvere nhema.
5. Bhiriji yakakura yemhino.
6. Kunoshandiswa kunzwa kutadza, mune dzimwe nguva - matsi.
7. Zviduku zvishoma zvepakati pebasa rekona.
8. Kusanganiswa kwezviratidzo izvi neHirschsprung's disease. Izvi zvirwere zvinoratidzirwa nekuputsika kwekusachengetwa kwemukati wemukati.

Zviratidzo zviduku zvinosanganisira zviratidzo zvakasiyana-siyana. Pakati pavo: miviri yemagetsi, musana werineni kuparadzanisa, syndactyly, ganda kuchinja (kuvapo kwenhamba zhinji yemamore, leukodermia). Kakawanda pane hypoplasia yemapapiro emhino uye kuderera mumasvingo makuru. Izvi zviso zvakatarisa zvinoshandiswa se "Greek profile". Vamwe varwere vane zvikanganiso zvakadaro se "mhumhi" kana kuti "hare lip".

Kuongororwa kwekuberekwa kunonyangadza

Vanhu vane maziso emeso akasiyana haawanzovi, asi chiratidzo ichi hachirevi nguva dzose chimiro chemaitiro. Kana chiratidzo chakadaro chinosanganiswa nematsi uye unhu hunhu hwekuonekwa, ipapo kuvapo kwechirwere cheWaldarden kungangodaro. Kuti kusimbise kuongororwa, kuongororwa kunyanzvi kunodiwa. Chibvumirano chekuongorora otolaryngologist, ophthalmologist, dermatologist. Zvakakosha kuziva kuti munhu ane nhaka yakadini. Genetic kuongororwa kunoitwa kuti ibudise hutachiona. Mushure maro, zvakatemwa kana kune chirwere cheWardenburg. Nhamba yehuchenjeri muvarwere inowanzoitika. Izvi zvinopesana nechirwere ichi kubva kune dzimwe dzakawanda dzinorwara.

Kurapa kwechirwere cheWaldardenburg

Sezvimwe nezvimwe zvirwere zvechromosomal, hapana etiotropic mishonga ye syndrome yeWawardenburg. Zviito zvechiremba zvinotarisirwa kubvisa zviratidzo zvehutano. Kuiswa kwemashonga ekugadzirisa kunoitwa kunodzivirira matsi. Kana hutachiona hwakabatanidzwa nechirwere cheHirschsprung, chirwere pamatumbo chinodiwa. Mune zvimwe zviitiko, physiotherapy inorayirwa. Dzimwe nguva kuvhiyiwa kwepurasitiki pane chiso.

Kudzivirira kwe genetic syndrome

Ukana hwekuti syndrome yeWawardenburg ichakurira mumwana ane chirwere cheumwe wevabereki yakanyanya kwazvo. Saka, panguva yekuzvitakura, mazita ekuberekwa kwema fetus anoitwa. Izvo zvinodiwa kana paine mutoro wekuzvarwa.

Kana chirwere chakadai muhama chisina kuonekwa, chengetedza kukura kwehutachiwana haugone. Kudzivirira zvirwere zvemajini, zvinokurudzirwa kusazvidzivirira uye zvimwe zviitiko zvinenge zvine tatikiti. Mafungiro ehupenyu muhutano huno akanaka.