Mwana wako ane dambudziko risingawanzoitiki rekukura kwehuropi here? (Miller-Dieker Syndrome)

Nhasi tichataura nezvenyaya isingawanzoitiki uye inonetsa vabereki. Ichi chirwere chinonzi Miller-Dieker Syndrome. Ichi chirwere chemajini chinokanganisa kukura kwehuropi hwemwana wako. Ungave usati wambonzwa nezvezita iri, asi kuziva nezvezvirwere izvi kunogona kukosha zvikuru, kunyanya kuvabereki vatsva.

Chii chinonzi Miller-Dieker Syndrome?

Zvichitaurwa zviri nyore, chirwere cheMiller-Decker chirwere chisingawanzoitika mumajini umo chikamu chekunze cheuropi hwemwana wako, chinonzi cerebral cortex , chinotsvedzerera. Kazhinji, muuropi hune hutano, chikamu ichi chine mipendero yakawanda yakaoma, makwinya uye migero. Zvakafanana newalnut. Asi muvana vane chirwere ichi, mipendero iyoyo haigadzike zvakanaka.

Mwana ane chirwere ichi anogona kuratidza zviratidzo zvemuviri pakuzvarwa. Zvikasadaro, matambudziko makuru ekukura uye etsinga anotanga kuoneka ava nemwedzi mitanhatu yekuberekwa. Kazhinji, izvi zvinokonzerwa nekuchinja kwemachromosomes. Zvisinei, mune dzimwe nguva, chirwere ichi chinogonawo kukonzerwa nekuchinja kwemajini kwakagara nhaka kubva kumubereki.

Zvinosuwisa kuti hapasati pave nemushonga wechirwere cheMiller-Decker. Chirwere ichi chinopedza simba, vana vazhinji vanofa vasati vasvitsa makore maviri.

Dambudziko iri rakatanga kutsanangurwa muma1960 nevanachiremba vaviri, James Q. Miller naH. Dieker. Ndosaka richinzi "Miller-Dieker syndrome."

Ndeapi mamwe mazita eizvi?

Chiremba wako anogona kushandisa zita rekurapa rekuti lissencephaly paMiller-Decker syndrome. Lissencephaly zvinoreva "uropi hwakatsetseka." Unogona zvakare kunzwa mazita aya:

• Chirwere cheLissencephaly chekare
• MDS
• chirwere cheMiller-Dieker lissencephaly

Dambudziko iri rakajairika zvakadii?

Chirwere cheMiller-Decker chirwere chisingawanzoitiki . Chinobata mwana mumwe chete pavana 100,000 vachangoberekwa. Izvi zvinoreva kuti kunyangwe muSri Lanka, hazviwanzoitiki kuwana mwana ane chirwere ichi.

Chikonzero cheizvi chii?

Vana vane chirwere cheMiller-Decker vane chikamu chisipo chechromosome 17.Varipo. Izvi zvinoreva kuti varasikirwa nejini rimwe kana akawanda. Funga nezvazvo sekunge tine mabhuku mashoma emirairo mumiviri yedu, atinoti machromosome. Mukati memachromosome aya mune majini, ari makodhi anodzora zvese mumiviri yedu. Saka, kurasikirwa kwemajini uku kunowanzoitika zvisina tsarukano, kureva kuti, pasina chikonzero chakajeka. Kurasikirwa kwemajini uku kunogona kuitika mumbeu, muzai, kana panguva yekukura kwemwana mushure mekubata pamuviri mudumbu.

Mumhuri zhinji, kana mwana ane chirwere ichi aberekwa, hapana akamborwara nechirwere ichi. Izvi zvinoreva kuti hapana nhoroondo yemhuri.

Zvisinei, dzimwe nguva, mumhuri imwe chete pamhuri gumi , mumwe wevabereki ane jini rakachinja zvishoma pa chromosome 17, zvichireva kuti rakarongwa nenzira isiriyo. Vanachiremba vanoti izvi zvinotapurirana zvakaenzana . Nekuti majini ese ari pa chromosome iyi aripo, zvichireva kuti hapana majini aripo, amai kana baba havazoratidzi zviratidzo zveMiller-Decker syndrome. Zvisinei, kana mubereki ane rudzi urwu rwe 'translocation' aine mwana, mwana anogona kurasikirwa nezvikamu zvejini nekuda kwekusarongeka kwehurongwa.

Kushaikwa kwemajini uku kunokanganisa kukura kweuropi mwana achiri mudumbu. Sezvambotaurwa, chikamu chekunze cheuropi (cerebral cortex) hachina makomba nemaburi akakodzera, uye chikamu ichocho chinova chakatsetseka.

Zviratidzo zvacho ndezvipi?

Chirwere cheMiller-Decker chinokanganisa kukura kwemwana mumuviri nemupfungwa . Kukosha kwezviratidzo kunoenderana nekuti uropi hwemwana hwakakura zvakadii.

Mwana anogona kuona zviratidzo zvakadai se:

• Kuoma kufema
• Kunonoka kukura - Izvi zvinoreva kunonoka kuita zvinhu zvinoenderana nezera rako.
• Kuoma kumedza (dysphagia)
• Matambudziko ekudyisa
• Kunzwa tsandanyama dzakaderera (hypotonia) - Izvi zvinoreva kuti tsandanyama dziri mumuviri hadzina simba uye hadzina kusimba.
• Kuomarara kwemhasuru kana kuputika
• Kubatwa nepfari - Chirwere chinokonzera kubatwa nepfari nguva nenguva.
• Kukura zvishoma nezvishoma kwemuviri

Hunhu hunogona kuonekwa muchitarisiko chemwana

Vana vane chirwere cheMiller-Decker vanowanzova nemisoro midiki pane yakajairwa. Izvi zvinonzi microcephaly . Vanogonawo kuva nezvimwe zvinhu zvakasiyana kumeso:

• Nzeve dzakaiswa pasi pane zvakajairika uye dzinogona kunge dziine chimiro chisina kujairika.
• Huma iri kubudikira mberi.
• Mhino yacho idiki uye inogona kunge yakasimudzwa mudenga.
• Chikamu chepakati chechiso chinoita sechakanyura mu (midface hypoplasia) .
• Muromo wepamusoro unogona kukura, uye shaya yepasi inogona kuita diki.

Ndezvipi zvinetso zvinogona kuitika?

Vamwe vana vanogonawo kuva nemamwe matambudziko pakuzvarwa. Semuenzaniso:

• Matambudziko emwoyo akaberekerwa - zvirwere zvemwoyo zvinowanikwa pakuzvarwa.
• Minwe yacho inogona kunge yakakombama kana kuti yakakombama (clinodactyly) .
• Matambudziko eitsvo.
• Dzimwe nhengo dzemudumbu dzinogona kunge dziri kunze kwedumbu (omphalocele) .

Chirwere ichi chinoonekwa sei?

Mimwe miedzo inoitwa panguva yekuzvitakura, yakadai se ultrasound scan , inogona kubatsira chiremba wako kuona kana mwana wako asina kukura zvakanaka kweuropi kana zvimwe zviratidzo zvechirwere ichi. Kana zvichifungidzirwa kuti izvi zvichaitika, chiremba wako anogona kukurudzira kuti mwana wako apihwe genetic amniocentesis kana chorionic villus sampling (CVS) . Iyi miedzo inogona kusimbisa kana mwana wako aine shanduko dzemajini dzakabatana neMiller-Decker syndrome.

Mushure mekunge mwana azvarwa, iwe kana chiremba wako munogona kuona zvimwe zvezviso zvataurwa kare. Kana kuti, mwana anogona kutanga kuva nepfari . Kazhinji, vana ava havapfuuri mwedzi mitatu kusvika mishanu yekukura kwemwana - sekugara wakamira uye kukunguruka.

Ndezvipi zvinorapwa izvi?

Sezvatakambotaura, zvinosuwisa kuti hapana mushonga wechirwere cheMiller-Decker . Ichi chirwere chinopedza hupenyu. Kurapa kwacho kwakanangana nekudzora zviratidzo zvakaita sepfari uye kuita kuti mwana anzwe akasununguka sezvinobvira. Nekuda kwekuoma kwekumedza, vamwe vana vangangoda kupihwa chikafu kuburikidza nechubhu (kudyisa nechubhu / kudya kwemukati) .

Ungaitei kana mwana wako aine chirwere ichi?

Kuchengeta nekurera mwana ane chirwere chakakomba uye chinomutadzisa kurarama ibasa rakaoma zvikuru . Unogona kusangana nekuzvidya mwoyo kukuru, kushushikana, uye kunyange kuora mwoyo . Saka, zvakakosha zvikuru kuchengetedza hutano hwako hwemuviri nehwepfungwa paunenge uchitarisira mwana wako.

Unogona kuwana rubatsiro kubva kuzvinhu zvakaita se:

• Tsvaga rubatsiro rwaunoda mwana wako, rwakadai serubatsiro rwekugadzirisa matambudziko, hutano hwepamba, uye michina yekubatsira.
• Joyina boka rekutsigirana rine vabereki vane vana vakaita seizvi. Zvichakubatsira kuti usanyanya kusurukirwa uye unogona kudzidza kubva pane zvakaitika kune vamwe.
• Dzidza nezvechirwere chemwana wako uye chero zviratidzo zvake.
• Wana nguva yako wega . Zorora, ita chimwe chinhu chaunofarira.
• Tsvaga nzira dzakanaka dzekuderedza kushushikana. Zvingave zvakaita sekufamba-famba neshamwari kana kutanga chimwe chinhu chitsva.
• Taura nachiremba wepfungwa . Izvi zvichakupa zororo rakawanda.
• Kana zvichidikanwa, shandisa mishonga yakaita semishonga inorwisa kuora mwoyo sezvakakurudzirwa nachiremba.

Chirwere cheMiller-Decker chinogona kudzivirirwa here?

Zvinoreva kuti hapana nzira yekudzivirira chirwere cheMiller-Decker, chinoitika kamwe kamwe pasina chikonzero chakajeka.

Zvisinei, kana uine mwana ane chirwere ichi, bvunzo yemajini inogona kuitwa kuti uone kana iwe kana mumwe wako mune 'balanced translocation' yambotaurwa pamusoro pechromosome 17. Kana mubereki ane 'translocation' yakadaro aine mumwe mwana, kazhinji pane mukana wekuti mwana iyeye achavawo neMiller-Decker syndrome.

Saka, zvakakosha kuti iwe nemumwe wako musangane nenyanzvi yezvemajini kuti mutaure nezvenjodzi iyi pamwe nesarudzo dzenyu.

Remangwana remwana ane chirwere ichi rakaita sei?

Izvi zvinosuwisa kutaura. Nguva yekurarama kwevana vane Miller-Decker syndrome inowanzova pfupi . Vana vazhinji vane pfari dzakakomba dzinogona kutyisidzira hupenyu hwavo. Kana, nekuti tsandanyama dzepahuro hadzina simba, mamiriro akaita se'aspiration pneumonia' anogona kuitika, uko chikafu nechinwiwa zvinopinda mumapapu. Izvi zvine njodzi huru.

Vana vazhinji vanofa pazera remakore maviri. Vamwe vana vanogona kurarama kusvika makore gumi. Zvisinei, kurarama kusvika pazera ravo rekuyaruka hazviwanzoitiki.

Unofanira kuona chiremba rini?

Kana mwana wako aine chimwe chezviratidzo izvi, enda kuna chiremba nekukasika:

• Kunonoka kukura - kana usingaite zvinhu zvinoenderana nezera rako.
• Kana uchinetseka kufema, kudya, kana kumedza.
• Kana uchigara uine pfari .
• Kana kukura kwemuviri kuchiita sekunonoka.
• Kana ukaona zvimiro zvechiso kana hunhu hwemuviri zvisingawanzoitiki .

Ndeipi mibvunzo inokosha yekubvunza chiremba?

Kana wangoziva kuti mwana wako ane chirwere cheMiller-Deeker, unogona kubvunza chiremba mibvunzo yakaita seiyi:

• Chii chinokonzera mwana wangu kuti aite chirwere cheMiller-Decker?
• Ndezvipi zvirongwa zvinogona kubatsira mwana wangu?
• Ndingaitei kuti ndibatsire mwana wangu kumba?
• Ini nemumwe wangu tinofanira kuongororwa majini here?
• Ndezvipi zvimwe zvinetso zvandinofanira kunetseka nazvo?

Pakupedzisira, yeuka

Kana mwana wako aine chirwere chakakomba chakadai chinomutadzisa kurarama, zvakakosha kutsvaga rubatsiro kubva kune nyanzvi nenyanzvi dzehutano dzine ruzivo nezvechirwere chacho. Chiremba wako anogona kubatsira kudzora zviratidzo zvemwana wako uye kumubatsira kuti anzwe akasununguka sezvinobvira. Vanogonawo kukubatanidza nezvinhu zvinobatsira uye mabasa ekutsigira anogona kubatsira mhuri yako munguva ino yakaoma.

Nepose pazvinogoneka, nakidzwai nenguva inova nemhuri yenyu pamwe chete. Ivai nerudo uye rutsigiro kune mumwe nemumwe. Edzai kuunganidza ndangariro dzakanaka dzamusingazombofi makakanganwa. Musaedza kufamba rwendo urwu muri mega, kune vanhu vazhinji vanogona kukubatsirai.

` Miller-Dieker Syndrome, lissencephaly, kukura kwehuropi, zvirwere zvemajini, chromosome 17, hutano hwevana, kunonoka kukura