Chii chinonzi Crouzon Syndrome? Totaura nezvazvo here?

Wakamboda kuziva kana kunetseka nezvechimiro chemusoro kana chiso chemwana wako here? Dzimwe nguva, pane mamiriro ezvinhu anoitika kana mapfupa ari mudehenya remwana akabatana nekukurumidza. Chimwe chezvinhu zvisingawanzoitiki asi zvakakosha kuziva iCrouzon Syndrome. Ngatitaurei nezvazvo nenzira iri nyore yaunogona kunzwisisa.

Chii chinonzi Crouzon Syndrome?

Zvichitaurwa zviri nyore, chirwere cheCrouzon chirwere chisingawanzoitiki chemajini . Chinoitika ndechekuti majoini ane fibrous anobatanidza mapfupa ari mudehenya remwana wako, anonzi sutures, anobatana nguva isati yakwana . Kana mapfupa ari mudehenya akabatana nekukurumidza, musoro wemwana hauna nzvimbo yakakwana yekukura zvakanaka. Vanachiremba vanodana izvi kuti craniosynostosis. Izvi zvinogona kukonzera kuti musoro wemwana nechiso chake zvitaridzike zvakasiyana. Crouzon syndrome ingori imwe yezvirwere zvecraniofacial zvinokanganisa kukura kwedehenya nechiso chemwana.

Ndiani anogona kuva nechirwere ichi?

Crozon syndrome chirwere chemajini, saka chinogona kukanganisa chero ani zvake. Chinokonzerwa nekuchinja (mutation) mujini, zvichireva kuti jini harishande nemazvo. Crozon syndrome inogona kutorwa kubva kuvabereki, kana kuti inogona kuitika semusiyano mutsva wemajini.

Kana mwana wako akagara nhaka yeCrouzon syndrome, zvinoreva kuti mubereki mumwe chete ndiye ane jini rakachinjwa uye akaripfuudza kumwana. Izvi zvinonzi nhaka ye "autosomal dominant". Amai kana baba vane Crouzon syndrome vane mukana we50%, kana 50%, wekupa chirwere ichi kumwana wavo. Funga nezvazvo semukana wekukanda mari wobva warova musoro.

Dzimwe nguva, kunyangwe vabereki vasina chirwere ichi, kuchinja kwemajini kunogona kuitika muzai raamai kana mbeu yababa panguva yekukura kwemwana, zvichikonzera chirwere cheCrozon. Muchiitiko ichi, hachisi chinhu chinotorwa kubva kuvabereki. Kunyanya kana baba vakura kupfuura makore 40-45, pane mukana wakakura zvishoma wekuti shanduko itsva dzemajini dziitike mumasero avo embeu.

Chirwere cheCrozon chakajairika zvakadii?

Crozon syndrome chirwere chisingawanzoitiki . Chinobata mwana mumwe chete pavana 60,000 vachangoberekwa. Zvisinei, Crozon syndrome ndiyo inonyanya kupararira mucraniosynostosis. Crozon syndrome inoumba inenge 4.8% yezvirwere zvese zvecraniosynostosis.

Ndezvipi zviratidzo zveCrozon syndrome?

Chirwere cheCrouzon chinonyanya kukanganisa kukura kwemapfupa emusoro wemwana wako nemapfupa echiso (craniofacial bones). Zviratidzo zvemuviri zvechirwere ichi zvinogona kunge zvisina kusimba mune vamwe vacheche, uye zvakanyanya kuoma mune vamwe. Zviratidzo izvi zvinosanganisira:

• Maziso ari kure zvakanyanya (hypertelorism).
• Kuonekwa kwemaziso ari kubuda (proptosis). Zvakaita sekuti maziso akura.
• Maziso akapatsanurwa (strabismus).
• Hurukuro inobuda.
• Mhino yacho idiki uye yakaita semuromo.
• Rushaya rwezasi harukure zvakanaka.
• Dzimwe nguva miromo yakatsemuka uye/kana mukanwa .

Ndezvipi zvinetso zvinogona kukonzera izvi?

Pamwe chete nekuchinja kwemuviri kunokonzerwa neCrouzon syndrome, mwana wako anogona kusangana nematambudziko. Zvakakoshawo kuziva izvi:

• Matambudziko ekuona: Kuona kunogona kukanganiswa nemaitiro emaziso kana kuwedzera kwekumanikidzwa mudehenya.
• Matambudziko emazino: Nekuda kwekukura kweshaya, matambudziko ekupinda kwemazino uye kuti akaiswa sei anogona kuitika.
• Kukanganisika kwekunzwa: Kurasikirwa nekunzwa kunogona kuitika nekuda kwemigumisiro yezvimiro zviri mukati mezeve.
• Kutadza kufema: Kuchinja kwemhino nepahuro kunogona kuita kuti zviomere kufema, kunyanya panguva yekurara.
• Hydrocephalus: Ichi chirwere apo mvura yakakomberedza uropi (CSF) inoungana uye inowedzera kumanikidzwa mukati medehenya.
• Kashoma, kusagona kunzwisisa: Kunyange hazvo njere dzichiwanzoitika, vamwe vana vanogona kunge vaine matambudziko ekudzidza.

Chii chinokonzera chirwere cheCrozon?

Chikonzero chikuru cheCrouzon syndrome kuchinja kwemajini (mutation) mujini rinonzi `FGFR2` . Zvichitaurwa zviri nyore, jini iri re`FGFR2` rinorayira muviri wedu kugadzira puroteni yakakosha. Puroteni iyoyo inonzi `(fibroblast growth factor receptor)`. Basa repuroteni iyi nderekubatsira masero emwana asati akura kuita masero emapfupa achiri mudumbu.

Zvisinei, kana jini reFGFR2 rachinja, puroteni yeFGFR2 inotanga kushanda zvakanyanya. Zvadaro, masero iwayo asina kukura anotanga kushanduka kuita masero emapfupa . Nekuda kweizvozvo, mapfupa emusoro wemwana anobatana nguva isati yakwana.

Chirwere cheCrozon chinowanikwa sei?

Chirwere ichi chinowanzoonekwa kana mwana wako azvarwa, kana vanachiremba vachiongorora mwana. Chiremba achaita ongororo yakakwana yemuviri wemwana . Musoro wemwana nechiso chake zvinogona kunge zvine hunhu hwemusoro hwemusoro hwataurwa pamusoro apa, izvo zvinogona kuratidza chirwere cheCrouzon. Chiremba achakubvunzawo kana paine munhu mumhuri mako akambova nechirwere ichi.

Ndedzipi bvunzo dzinoitwa kusimbisa chirwere ichi?

Chiremba anogona kuita mimwe miedzo yakawanda kuti asimbise kuvapo kweCrouzon syndrome. Mimwe mikuru ndeiyi:

• Kuongororwa kweCT (Computed Tomography - CT scan): Izvi zvinogona kutora mifananidzo yezvikamu zviri mukati memuviri wemwana. Izvi zvinobatsira kuona zvinhu zvakaita semarongerwo akaita mapfupa edehenya uye mamiriro ehuropi.
• Kuongororwa kweMRI (Magnetic Resonance Imaging - MRI scan): Izvi zvinogonawo kutora mifananidzo yakadzama yenhengo dzemuviri nenyama dzemwana. Izvi zvakakosha kuti unzwisise zviri nani uropi nedzimwe nyama dzakapfava.
• Kuongororwa kwemajini emasero: Kuongororwa kwemajini uku kunogona kuona nemazvo kana paine shanduko dziri mujini reFGFR2 rambotaurwa dzinokonzera chirwere cheCrouzon.

Chirwere cheCrozon chinorapwa sei?

Mwana wako acharapwa nechikwata chevanachiremba nevashandi vehutano vane kudzidziswa kwakakosha muzvirwere zvemusoro . Zvakafanana nechikwata chekiriketi. Munhu wega wega ane mabasa ake, asi munhu wese anoshanda pamwe chete kuti awane mhedzisiro yakanakisa yemwana wako. Chikwata ichi chinogona kusanganisira:

• Chiremba wevana wemwana wako.
• Chiremba wepfungwa .
• Chiremba ane hunyanzvi mukuvhiya kwepurasitiki (plastic surgeon) .
• Nyanzvi yemazino .
• Mupi wezano wezvemajini .
• Mushandi wezvemagariro evanhu .
• Nyanzvi yezvenzeve, mhino nepahuro (chiremba weENT - otolaryngologist)
• Nyanzvi yezvekunzwa .
• Chiremba wemaziso .

Kuvhiya (kuvhiya)

Kurapa kukuru kweCrouzon syndrome kuvhiyiwa . Kuvhiyiwa uku kunoitwa nachiremba wepfungwa. Kuvhiyiwa uku kunotarisirwa kuti:

• Kugadzira nzvimbo yakakodzera yepfungwa dzemwana dziri kukura .
• Kuderedza kumanikidzwa kusingakoshi mukati medehenya.
• Kuvandudza chitarisiko uye chimiro chemusoro wemwana kusvika pamwero wakati .

Dzimwe nguva zvingada kuvhiyiwa kanopfuura kamwe chete, zvichienderana nemamiriro emwana.

Kurapa neNgowani

Zvisinei, havasi vana vese vanoda kuvhiyiwa . Kana mwana wako aine chirwere cheCrouzon chisina kunyanya kuoma, chiremba anogona kukurudzira kurapwa nengowani.Zvinogona kukurudzirwa. Chinoitika apa ndechekuti mwana anopiwa ngowani yekurapa yakagadzirwa zvakananga. Ngowani iyi inogadzirisa zvishoma nezvishoma chimiro chedehenya remwana nekufamba kwenguva.

Nzira yekubata nayo zviratidzo?

Pamusoro pekurapwa, timu yevanachiremba yemwana wako inogona kukurudzira mamwe marapirwo akasiyana-siyana akagadzirirwa kuvandudza hupenyu hwemwana wako.

• Kurapa kwepfungwa: Varapi vepfungwa (vanowanzova vashandi vemagariro evanhu) vanokupa iwe, mwana wako, nevamwe vemumhuri rutsigiro rwepfungwa rwavanoda. Rutsigiro irworwo runokosha zvikuru kana uchitarisana nematambudziko akadai.
• Mazano eGenetic: Vanopa mazano eGenetic vanogona kusimbisa kuongororwa kwemwana wako, pamwe nekukupa mazano nezvechirwere chacho, zvekutarisira mune ramangwana, uye kuti chingakanganisa sei vamwe vemumhuri.
• Kurapa muviri: Vanachiremba vemuviri vanobatsira kusimbisa tsandanyama dzemwana netsinga uye vanopa maekisesaizi emuviri kuti awedzere kuchinjika.
• Kurapa Nemabasa: Varapi vemabasa vanobatsira kukudziridza hunyanzvi hwemwana hwekufambisa nhengo dzemuviri (semuenzaniso, kubata zvinhu zvidiki), kuona, kufunga nepfungwa, uye kugadzirisa manzwiro.
• Kurapa nekutaura: Varapi vekutaura vanobatsira vanhu kukunda matambudziko ekutaura, mutauro, kutaurirana, uye hunyanzvi hwekudyisa nekumedza.

Njodzi yekuva nemwana ane chirwere cheCroson inogona kuderedzwa here?

Nekuti Crozon syndrome inokonzerwa nekuchinja kwemajini kusingawanzoitiki, hapana nzira yekudzivirira chirwere ichi kuti chisaitike . Chinogonawo kuitika zvisina tsarukano.

Chinhu chinonyanya kukosha kunzwisisa kuti ichi hachisi chinhu chawakaita kana chausina kuita usati waita kana panguva yekuzvitakura.

Zvisinei, kana mubereki ane chirwere cheCroson achida kudzivirira mwana wake kuti asagare nhaka chirwere ichi, vanogona kushandisa tekinoroji yeIVF (in vitro fertilization) pamwe nekuongorora embryo . Ikoko, pane mukana wekusarudza embryo dzine hutano uye kuiisa muchibereko.

Kana uri kutarisira mwana mune ramangwana, kunyanya kana uine chirwere cheCrouzon syndrome kana kana mumwe munhu mumhuri yako aine chirwere ichi , zvakanaka kutaura nachiremba wako nezvekuongororwa kwemajini. Kuongororwa kwemajini kunogona kuongorora njodzi yako yekuva nemwana ane chirwere ichi.

Chii chandingatarisira kana mwana wangu aine chirwere cheCrouzon?

Remangwana remwana ane chirwere cheCroson richava rakaita sei?Zvinoenderana nekuti chirwere ichi chinokurumidza sei kuongororwa uye kuti kurapwa kwacho kunobudirira sei. Mwana wako achada rubatsiro rwechiremba nekukasika uye kutariswa nachiremba nguva dzose (kutevera).

Zvisinei, kana kurapwa kukatanga kare, mwana wako anogona kurarama hupenyu hwakajairika. Kunyangwe paine kunonoka kukura, vanhu vazhinji vane chirwere cheCroson vane IQ yakajairika. Saka zvakakosha kuti urambe uine tariro.

Chii chinosiyanisa Crozon syndrome, Apert syndrome, uye Pfeiffer syndrome?

Zvinogona kuvhiringa zvishoma kunzwa mazita aya, asi zvakanaka kuziva musiyano uripo pakati pawo.

• Apert Syndrome: Kufanana neCrouzon syndrome, Apert syndrome chirwere apo mapfupa edehenya anobatana (craniosynostosis) nekuda kwekuchinja kwejini reFGFR2. Zvisinei, Apert syndrome inowanzova isina kusimba zvakanyanya seCrouzon syndrome. Kuwedzera kune hunhu hweCrouzon syndrome, vacheche vane Apert syndrome vanogona kunge vaine minwe nezvigunwe zvakasangana kana kuti zvakakomberedzwa newebhu. Minwe inogonawo kuva mipfupi, uye chigunwe chikuru nechigunwe chikuru zvinogona kunge zvakakura uye zvakafara. Kuremara kwepfungwa kwakajairikawo muApert syndrome kupfuura muCrouzon syndrome.

• Pfeiffer Syndrome: Ichi chirwere chinonziwo craniosynostosis, chinokonzerwa nekuchinja kwejini reFGFR2 (uye pamwe FGFR1). Kune mhando nhatu huru dzePfeiffer syndrome, imwe neimwe ine mwero wakasiyana wekuoma. Vacheche vane Pfeiffer syndrome vanewo zviratidzo zvemusoro nechiso zveCrouzon syndrome. Pamusoro pezvo, minwe mipfupi, yakafara nezvigunwe zvidiki zvinosiyana. Mumhando 2 ne3 dzePfeiffer syndrome, zviratidzo zvemusoro nechiso zvakanyanya kuoma. Matambudziko epfungwa netsinga anowanzoonekwawo mumhando idzi.

Kunzwa kuti mwana wako ane chirwere chemajini chisingawanzoitiki kunogona kukutyisa uye kunotyisa. Izvozvo ndezvechisikigo.

Zvisinei, chinhu chakakosha kurangarira ndechekuti chirwere cheCrouzon hachisi chirwere chinotyisidzira hupenyu kana kuti chinouraya.

Chikwata chevanachiremba vane hunyanzvi chichashanda newe nemwana wako kuti chipe mhedzisiro yakanakisisa. Kana chirwere ichi chikaonekwa nekukurumidza uye chikarapwa nemazvo, mwana wako anogona kurarama hupenyu hwakanaka uye hwakajairika.

Mharidzo Yekupedzisira Yekuenda Kumba

Zvakanaka, saka hezvino zvimwe zvezvinhu zvakakosha zvaunofanira kuyeuka kubva pane zvatataura nezvazvo:

• Crouzon Syndrome chirwere chisingawanzoitiki chinoratidzwa nekusangana kwemapfupa emusoro wemwana nekukurumidza.
• IzviInogona kugarwa nhaka kubva kuvabereki kana kuti inobva mukuchinja kwemajini.
• Zvimiro zvechiso zvakaita semaziso akare, maziso akabudikira, uye huma iri mberi zvinogona kuonekwa mune izvi.
• Kuongororwa kwechirwere kunoitwa kuburikidza nekuongororwa kwemuviri, kuskena, uye kuongororwa kwemajini .
• Kuvhiyiwa ndiko kurapwa kukuru, asi dzimwe nguva kurapa nengowani kunoshandiswawo.
• Rutsigiro rwechikwata chevanachiremba vane hunyanzvi pamwe nekurapwa kwakasiyana-siyana kwakakosha zvikuru pakuvandudza hupenyu hwemwana.
• Iyi haisi mhosva yako, ingori imwewo mhosva.
• Kana mwana akaongororwa chirwere chake nekuchipiwa mushonga, anogona kurarama hupenyu hwakajairika uye kazhinji nepfungwa dzakanaka.

Ndinovimba ruzivo urwu ruchakubatsira. Kana uine mibvunzo kana zvinokunetsa, usambozeza kutaura nachiremba.

Crozon syndrome, zvirwere zvemajini, ganda, zvirwere zvevana, kuvhiyiwa, kuremara kwechiso, jini reFGFR2