El Kabuki syndrome chirwere chisingawanzo izvo zvinogona kunge zvine magene. Vana vanotambura nazvo vane matambudziko akasiyana epanyama uye epfungwa, mamwe acho isu tichanyatso tsanangura muchinyorwa chino.
Vana vanobatwa neKabuki syndrome havana tarisiro yehupenyu hupfupi pane inoonekwa seyakajairika. Mazhinji ematambudziko ekurapa avanayo anogona kugadziriswa nekuvhiyiwa. Chimwe chezviratidzo zvakakomba uye zvine njodzi chechirwere ichi shanduko muiyo viscera. Zvakajairikawo kwavari kuti vave nezvinetso zvakakomba zvecoronary nemoyo.
Chii chinonzi Kabuki syndrome?
El kabuki chirwere Ndicho kurwara kunoshamisa izvo zvinokonzeresa avo vanotambura nazvo akateedzana eakasiyana maitiro ehupenyu hunhu. Ichi chirwere chinotendwa inotora nhaka kubva kune yakakosha geni kana kubva kugenesis inogadziriswa neX chromosome, asi chikonzero chayo hachisati chanyatsojeka.
Is inofungidzirwa sechirwere chisingawanzoitiki. Iko hakuna yakajeka nzira yekuongorora inoona chirwere ichi. Icho chokwadi chekuti pane zvishoma vashoma vanozivikanwa vakuru vane iyi syndrome zvinogona kunge zviri nekuti chirwere ichi changobva kuwanikwa. Yakawanikwa mu1980 muJapan uye muna 1990 muEurope neAmerica.
Kune rimwe divi, isu tinogona kutaura nezve akateedzana e chaiwo hunhu, kunyanya kumeso, uye humwe hurema hwehungwaru, senge kusimudzira kunonoka. Kune zvakare kuchinjika kwemunwe, kuvapo kwemasculoskeletal shanduko uye chirwere chepfungwa chepamuviri.
Zviratidzo
Sezvatareva, vakomana nevasikana vane chirwere cheKabuki vane hunhu kumeso maficha. Mamwe acho nde:
- Kuvapo kwekushomeka kwetatu yekupedzisira yeiyo ezasi eyelid, yekumashure kuvhura kweiyo maziso akareba, yakafanana neonecular physiognomy yevekuMabvazuva.
- Wide mumhino bhiriji uye yakanongedzera mukati, hombe, dzakasungwa-bata nzeve uye dzakakora, dzakakora tsiye.
Vakomana nevasikana ava vanowanzovapo chinokatyamadza uye chimiro chipfupi. Ivo vane maratidziro ekuchinja pamwe nekuvapo kwezvigunwe zveminwe, kusagadzikana uye kusagadzikana kana shanduko yemuzongoza. Tsvina kushomeka zvakajairika, uye ivo dzimwe nguva vanoda wiricheya kuti vafambe. Muchokwadi, vana ava vanoda kurapwa kwemuviri. Aya matekinoroji ndeerubatsiro rukuru kunatsiridza hunyanzvi hwako hwemota nekusimbisa musculoskeletal system.
Vakomana nevasikana vane Kabuki syndrome zvakare vane hunyoro kusvika pakati nepakati degree re kuremara kwepfungwa, mazhinji acho ane maitiro e autistic. Kune izvi zvinofanirwa kuwedzerwa, mune dzimwe nguva, matambudziko etsinga senge mamwe atrophy kana microcephaly. Zvinetso zvekuona uye zvekunzwa zvakajairika, uye dzimwe nguva kugwinha, nekubatwa kwakanyanya kwekufa pfari. Asi matambudziko ese aya haafanire kuve akakomba, mamwe ari akapfava.
Kabuki syndrome kurapwa
Iyo Kabuki syndrome iri sei kuberekwa chirwere Izvo pane ruzivo rwakawanda parizvino, kurapwa kwacho kwakaomarara kwazvo. Izvi zvinotarisa mukuvandudza hupenyu hwevarwere uye kurapa zviratidzo. Hapana mushonga anozivikanwa.
Panyaya yehurema hwepfungwa, vakomana nevasikana vane chirwere cheKabuki vanogamuchira akashandura dzidzo kune zvaunoda. Iyo mutauro kunonoka, kazhinji kunowanzo kunonoka kutaura, uko kunowedzerwa neakaderera mhasuru toni, zvisingawanzo maficha, zvinogona kurapwa nerubatsiro rwekurapa kwekushanda.
Zvingave zvichidikanwa ku kushandiswa kwekuvhiya kwakasiyana siyana, nekuti kuberekwa kushandurwa kunogona kukonzera njodzi yekupona kwavo kunowanzoitika, sekushanduka mumoyo uye nemoyo masisitimu, mweya wekufema, nzira yekugaya uye muromo.
Sekurapa kwepfungwa, zvingave zvakafanira kurapa kumwe kusagadzikana kwepfungwa uko vana ava vangatambura, asi pamusoro pezvose kupa ruzivo nerutsigiro kunhengo dzemhuri. Saizvozvo kuSpain kune mubatanidzwa wehama, iyo yakagadzwa nechinangwa chekuve poindi yekureva iyi mhuri. Kunze kwekuve chishandiso chekuparadzira kubatana mukushambadzira Kabuki syndrome uye kuiona.