Mwana wenyu ane zviratidzo izvi here? Ngatidzidzei nezveCostello Syndrome!

Dzimwe nguva tinonetseka zvikuru patinonzwa nezvezvirwere zvichave nevana vedu, handiti? Kunyanya kana chiri chirwere chisingawanzoitiki. Chimwe chezvirwere zvisingawanzoitiki zvemajini izvo vanhu vazhinji vasati vanzwa nezvazvo, asi zvakakosha kuziva nezvazvo, iCostello Syndrome. Ngatitaurei nezvazvo zvakadzama, zviri nyore. Ungafunga kuti izvi hazvishande kwandiri, asi ruzivo urwu ruchabatsira mumwe munhu rimwe zuva.

Chii chinonzi Costello Syndrome?

Zvichitaurwa zviri nyore, Costello Syndrome chirwere chisingawanzoitika chinogona kukanganisa nhengo dzakawanda dzemuviri. Semuenzaniso, chinogona kukanganisa nhengo dzakawanda dzemuviri, dzakadai seuropi, mapfupa, moyo, ura, tsandanyama, itsvo, neganda.

Fungidzira, tine masero mumuviri wedu. Masero aya ndiwo anotikura uye anotigadzirisa. Kazhinji, masero aya anokura uye anopatsanurana zvichienderana nekudzora kwakati. Zvisinei, muCostello syndrome, zvinoita sekunge masero aya anogamuchira murairo wekuti "akure uye apatsanuke zvakanyanya, nekukurumidza." Chikonzero cheizvi ndechekuti pane chikanganiso mumapuroteni anodzora kukura kwemasero. Nenzira iyi, masero anowanda zvisina kufanira uye nekukurumidza, uye pane njodzi yakawedzerwa yekuva nemamota, ese ari maviri ane kenza uye asiri ekenza .

Mamiriro ezvinhu aya akajairika zvakadii?

Kutaura zvazviri, chirwere cheCostello chirwere chisingawanzoitiki. Zvinofungidzirwa kuti vanhu vari pakati pe100 ne1500 chete pasi rose vanotambura nechirwere ichi. Izvi zvinoreva kuti chirwere ichi hachiwanzoitiki.

Ndezvipi zviratidzo zveCostello syndrome?

Zviratidzo zveCostello syndrome zvinogona kusiyana kubva pamunhu kuenda kune mumwe, uye kuoma kwezviratidzo kunogona kusiyana. Zviratidzo izvi zvinokanganisa nhengo dzakasiyana dzemuviri. Ngatitarisei zviratidzo zvikuru zvinogona kuonekwa:

• Chirwere chemwoyo: Zvirwere zvakaita sekusagadzikana kwemoyo (`arrhythmia`) uye kukora kwetsandanyama dzemwoyo (`hypertrophic cardiomyopathy`) zvinogona kuitika. Izvi zvimwe ndizvo zviratidzo zvine njodzi zvikuru.
• Matambudziko ekuyamwisa nekuyamwisa: Kunyanya muhucheche, zvinogona kuoma kuti mwana ayamwise uye adye. Dzimwe nguva chubhu yekuyamwisa inogona kudiwa.
• Kukombama kwemusana: Zvirwere zvakaita sekukombama kwemusana parutivi (scoliosis) kana kukombama kwemberi (kyphosis) zvinogona kuonekwa.
• Kuremara kwepfungwa uye kusarongeka kwekukura kweuropi: Kuremara kwepfungwa kudiki kusvika pakati nepakati kunogona kuitika. Zvimwe zvisakanaka mukukura kweuropi, zvakaita seChiari malformation, zvinogonawo kuonekwa.
• Matambudziko ekuona uye mazino: Kutadza kuona zvakanaka, matambudziko nechimiro kana kukura kwemazino zvinogona kuitika.
• Kuchinja kwemaumbirwo eitsvo: Panogona kunge paine shanduko muchimiro kana nzvimbo yeitsvo.
• Kushaya simba kwetsandanyama (hypotonia): Tsandanyama dziri mumuviri dzinogona kunge dzakareruka zvishoma uye dzisina simba rakawanda.

Hunhu hunoonekwa hwemuviri

Kuwedzera kune zviratidzo izvi, zvimwe zvinhu zvakasiyana zvinogona kuonekwa mukuonekwa kwevana nevakuru vane Costello syndrome:

• Kupfugama kwakanyanya kwemunwe nemapfupa emaoko.
• Kuva netsinga yeAchilles yakamanikana kumashure kwechitsitsinho.
• Ane musoro wakakura kupfuura avhareji, muromo mukuru, miromo yakazara, mhino dzakafara, uye kumeso kwake kwakaita kunge kwakakora zvishoma .
• Kuva neganda rakareruka pamaoko netsoka ('cutis laxa').
• Kukura zvishoma nezvishoma panguva yehudiki uye kurasikirwa nehurefu mushure mekukura.
• Dzimwe nzvimbo dzeganda dzinosviba kupfuura ganda rakaripoteredza (hyperpigmentation).

Sei bundu richiumbwa mumamiriro ezvinhu aya?

Sezvandambotaura, kushanduka kwemajini kunokonzera Costello syndrome kunoita kuti masero akure nekukamurana nekukurumidza. Kupatsanurwa kwakanyanya kwemasero ndiko kunokonzera mabundu. Mabundu aya anogona kuva ekenza kana kuti asiri ekenza (asina kunaka).

Aya ndiwo mamwe emhando dzenzungu dzinonyanya kuzivikanwa:

• Papilloma (isiri kenza): Idzi inhumbu diki, dzakaita semapundu dzinogona kuoneka dzakatenderedza mhino, muromo, kana huro.
• Rhabdomyosarcoma (kenza): Iyi ikenza inowanikwa mutsandanyama panguva yehudiki.
• Neuroblastoma (kenza): Iyi ikenza yemasero etsinga inowanikwawo muvana nevechidiki.
• Kansa yemukati memasero (kenza): Iyi imhando yekenza yedundira inowanikwa muvanhu vakuru.

Chii chinokonzera chirwere cheCostello?

Chikonzero chikuru cheCostello syndrome kuchinja kwemajini eHRAS mumajini edu. Jini reHRAS iri rinogadzira puroteni inonzi H-Ras. Basa repuroteni iyi nderekudzora kukura kwemaseru nekupatsanurwa kwemaseru.

Funga nezvepuroteni iyi yeH-Ras sechinochinja chiedza. Kana gene reHRAS rikaita shanduko, "kudzima" kwepuroteni iyi kunomira kushanda. Zvinoita sekunge puroteni iri "yakabatidzwa" nguva dzose. Nekuda kweizvozvo, masero anogara achigamuchira zviratidzo zvisingadiwi kuti "akure zvakanyanya, agovane zvakanyanya." Iyi ndiyo nhoroondo yemajini eCostello syndrome.

Izvi zvinobva kuzvizvarwa nezvizvarwa here?

Zviitiko zvizhinji zveCostello syndrome zvinokonzerwa nekuchinja kwemajini matsva (`de novo` mutations). Izvi zvinoreva kuti mwana anogona kuva nechirwere ichi zvisina tsarukano, pasina mumwe munhu mumhuri akambova nacho kare.

Asi, kashomaVana vanogona kugara nhaka yechirwere ichi kubva kuvabereki vavo. Izvi zvinonzi "autosomal dominant". Izvi zvinoreva kuti kunyangwe mubereki mumwe chete ane genetic variation, pane mukana we50% wekuti mwana achagara nhaka.

Ndiani anogona kukura chirwere cheCostello?

Dambudziko iri rinogona kuitika kune chero munhu. Sezvambotaurwa, rinowanzoitika zvisina tsarukano, pasina nhoroondo yemhuri.

Chirwere ichi chinoonekwa sei? (Kuongororwa)

Chirwere cheCostello chinowanzoonekwa muhudiki. Chiremba anotanga aongorora zviratidzo zvemwana nokungwarira. Zvadaro, bvunzo yemajini ichaitwa kuti asimbise kusarongeka kwemajini. Chiremba achabvunzawo kana paine munhu mumhuri ane nhoroondo yezvirwere zvemajini, sezvo zvisingawanzoitiki kuti zvigamuchirwe nhaka.

Dzimwe nguva, zviratidzo zveCostello syndrome zvinogona kufanana nezvezvimwe zvirwere zvemajini, zvakaita se cardiofaciocutaneous syndrome (CFC syndrome) uye Noonan syndrome . Saka, kuongororwa kwemajini kwakakosha kuti pave nekuongororwa kwakarurama. Ndizvo zvinoita kuti zvirwere izvi zvisiyane.

Ndezvipi zvinorapwa zveCostello syndrome?

Zvinosuwisa kuti hapana mushonga chaiwo weCostello syndrome. Saka, kurapwa kunonyanya kutarisisa kudzora nekubata zviratidzo. Kune nzira dzakasiyana siyana dzekurapa:

• Kuvhiyiwa: Kuvhiyiwa kunogona kudiwa pazvinhu zvakaita sechirwere chemwoyo, matambudziko ekudya, uye spinal stenosis.
• Mishonga: Mishonga yakaita se beta-blockers, calcium channel blockers, uye mishonga inoderedza kusagadzikana kwepfungwa inopiwa kudzora zviratidzo zvechirwere chemwoyo.
• Kuti uvandudze kuona: pfeka magirazi kana kuvhiyiwa maziso.
• Kusimbisa tsandanyama uye kurapa matambudziko ekukura kwemapfupa: kupfeka zvinhu zvinotsigira ('brace'), kupa physiotherapy uye occupational therapy.
• Zvirongwa zveDzidzo Yakakosha: Kutumirwa kuzvirongwa zvedzidzo yakakosha kuti zvitsigire kudzidza kwemwana kuchikoro.
• Kurapa bundu: Kuvhiyiwa kana kurapwa nechemotherapy pamabundu ane kenza. Kubviswa kwebundu risiri rekenza rakadai semapillomas uchishandisa chando chakaoma .

Chinhu chinonyanya kukosha ndechekutevedzera zvese izvi kurapa sekurairwa nachiremba, zvichienderana nemamiriro emwana uye zviratidzo zvake.

Hupenyu huchava hwakaita sei nemamiriro ezvinhu aya?

Costello syndrome chirwere chinogara kwenguva refu.Hapana mushonga chaiwo wechirwere ichi. Nguva yekurarama kwemunhu ane chirwere ichi inotsamira pakuoma kwezviratidzo zvacho, kunyanya zviratidzo zvemoyo.

Zvisinei, kana chirwere chikaonekwa nekukurumidza uye kurapwa kukatangwa nekukurumidza, mwana anogona kubatsirwa kurarama hupenyu hwakanaka. Kurapa hakungodzore zviratidzo chete, asiwo kunorapa bundu rinokonzerwa nekukamurwa kwakanyanya kwemasero. Nokudaro, pane tariro.

Ko Costello syndrome inogona kudzivirirwa here?

Kutaura zvazviri, zvakaoma zvikuru kudzivirira chirwere ichi. Nekuti, kazhinji, chinoitika netsaona, zvisingatarisirwi. Zvisinei, kana uchiziva kuti mumwe munhu mumhuri yako ane chirwere chemajini chakadai seCostello syndrome, unogona kuwana ruzivo rwenjodzi yako nekutaura nachiremba uye kuwana mazano ezvemajini ('majini counselor') uye, kana zvichidikanwa, 'kuongororwa kwemajini' .

Ndinofanira kuona chiremba nguvai?

Kana mwana wako akaonekwa aine chirwere cheCostello syndrome uye ari kuratidza zviratidzo zviri kukanganisa mararamiro ake , kunyanya kana achinetseka nekudya kana kuti ari kusangana nematambudziko ekukura, enda kuna chiremba nekukasika.

Pane dzimwe nguva dzaunofanira kuenda kuchipatara che emergency, kunyanya kana uine chimwe chezviratidzo izvi zvine chekuita nemoyo:

• Kurova kwemoyo kusingawanzoitiki kana kuti kunonoka.
• Kutadza kufema zvakanaka.
• Kurwadziwa kwechipfuva.
• Kunzwa dzungu kana kusuruvara.

Kana ukaona zviratidzo izvi, usanonoka.

Ndeipi mibvunzo inokosha yekubvunza chiremba?

Kana ukaona kuti mwana wako ane chirwere chisingawanzoitiki, zvakajairika kuva nemibvunzo yakawanda. Zvakakosha kubvunza chiremba wako mibvunzo yakaita seiyi:

• Ndezvipi migumisiro yekurapa kwakapihwa?
• Mwana wangu anofanira kuvhiyiwa here?
• Ndinofanira kuuya kuzoongororwa kangani kuti ndione zviratidzo zvemwana wangu?
• Mwana wangu anoda rubatsiro rwenyanzvi here? (semuenzaniso chiremba wemwoyo, nyanzvi yezvemajini)

Pakupedzisira, zvinhu zvekurangarira (Mharidzo Yekuenda Kumba)

Zvakajairika kunzwa wakaremerwa uye uchinetseka paunoona kuti mwana wako ane chirwere chemajini chisingawanzoitiki chakadai seCostello Syndrome. Zvakafanana kune chero munhu. Asi yeuka, hausi wega. Vanachiremba nevashandi vehutano vari kuita zvese zvavanogona kuti vape mwana wako kurapwa kwakanakisisa uye kutarisirwa kwaanoda.

Chinhu chinonyanya kukosha ndechekugara uchiziva zviratidzo zvemwana wako. Nyatsocherechedza chero bundu diki ringangokonzerwa nekupatsanurwa kwakanyanya kwemasero. Kana izvi zvikaonekwa nekukasika uye kurapwa, mhedzisiro yacho inova nani.

Ndinovimba ruzivo urwu ruchakubatsira. Kana muine mimwe mibvunzo, musazeza kutaura nachiremba.

Costello Syndrome, zvirwere zvemajini, zvirwere zvisingawanzoitiki, hutano hwevana, gene reHRAS, njodzi yekenza, zviratidzo