Chii chiri kunetsa mwana wangu? Dzidza nezve Walker-Warburg Syndrome

Seamai, munonzwa kusuruvara uye kutya kwakadini kana mwana wenyu akazvarwa aine chitarisiko chisingawanzoitiki, asina hupenyu, kana kuti akaremara, kana kana vanachiremba vakati pane dambudziko nekukura kwemaziso kana uropi? Dzimwe nguva chikonzero cheizvi chinogona kunge chiri chirwere chisingawanzoitiki, asi chakakomba, chemajini chinowanikwa pakuzvarwa. Nhasi tichataura nezvechimwe chirwere chakadai, Walker-Warburg Syndrome.

Chii chinonzi Walker-Warburg Syndrome?

Muchidimbu, Walker-Warburg Syndrome chirwere chemajini chinokanganisa tsandanyama dzemuviri wemwana wako, kunyanya uropi nemaziso. Ndecheboka rezvirwere zvinonzi congenital muscular dystrophies, zvinotanga pakuzvarwa kana mucheche uye zvishoma nezvishoma zvinoderedza tsandanyama nekufamba kwenguva. Kutaura zvazviri, chirwere ichi chinokonzera zviratidzo zvinotyisidzira hupenyu hwevana uye, zvinosuwisa, zvinopfupikisa hupenyu hwavo. Izvi zvinganzwika sekutyisa kwauri, asi zvakakosha kuziva kuti chii.

Chii chinonzi dystroglycanopathy? Pane hukama here?

Pamwe wakambonzwa Walker-Warburg Syndrome ichinzi Dystroglycanopathy . Usazvidya moyo, ndichatsanangura.

Walker-Warburg syndrome rudzi rwe congenital muscular dystrophy. Muscular dystrophy iboka rezvirwere zvinokanganisa tsandanyama dzemuviri wemwana. Mhando dzakasiyana dzetsandanyama idzi dzinonzi dystroglycanopathy. Kureva kuti, tsandanyama dzinokonzerwa nekukanganisika kwemajini anogadzira puroteni inonzi dystroglycan dzinonzi zita iri. Walker-Warburg syndrome inoonekwa seyakanyanya kuipa, kana kuti yakakomba, yeboka iri re dystroglycanopathy.

Chirwere ichi chakajairika zvakadii? Ndiani anogona kuchibata?

Chirwere cheWalker-Warburg chirwere chisingawanzoitiki. Pasi rose, zvinofungidzirwa kuti mwana mumwe chete pavana 60,500 vachangoberekwa anotambura nechirwere ichi. Sezvo chiri chikonzero chekuchinja kwemajini, chero ani zvake anogona kuva nechirwere ichi. Izvi zvinoreva kuti dzinza, chitendero, nezvimwewo hazvina basa.

Mwana wangu anogona kugara nhaka chirwere ichi here?

Ehe, mwana wako anogona kugara nhaka yeWalker-Warburg Syndrome.Izvi ndizvo zvinoitika: Kana vabereki vese vari vatakuri veimwe yemajini akachinja anokonzera Walker-Warburg Syndrome, zvichireva kuti vese vane kopi imwe chete yejini rakakanganisika, mwana anowana chirwere ichi chete kana vabereki vese vakapfuudza jini kumwana panguva yekubata pamuviri. Iyi nzira yenhaka inonzi autosomal recessive inheritance.

Fungidzira, kana mwana wako akagara nhaka kopi imwe chete yejini iri rakachinja kubva kune mumwe mubereki, mwana haazoratidzi zviratidzo, asi mwana wacho ndiye achava mutakuri wechirwere ichi. Izvi zvinoreva kuti vana vemwana mune ramangwana vanogona kunge vaine njodzi yekubatwa nechirwere ichi, kana mumwe mubereki ari iyewo mutakuri wacho.

Walker-Warburg Syndrome inokanganisa sei muviri wemwana wangu?

Chirwere ichi chinonyanya kukanganisa tsandanyama dzemuviri wemwana wako. Unogona kuona shanduko mutsandanyama dzemwana wako paanongozvarwa. Muviri wemwana unogona kunge wakaneta zvakanyanya, sechidhori chisina hupenyu , nekuti tsandanyama dzine tsandanyama shoma. Kuwedzera kune tsandanyama, chirwere ichi chinokanganisawo kukura uye kushanda kweuropi nemaziso emwana wako. Mwana wako anogona kunge aine matambudziko ekuona, kunonoka kukura, uye matambudziko ekukura kwepfungwa. Vanachiremba vanoedza kudzora zviratidzo izvi nekurapwa uye kudzivirira mwana kuti asararame kwenguva pfupi.

Ndezvipi zviratidzo zveWalker-Warburg Syndrome?

Chirwere cheWalker-Warburg chinokonzera zviratidzo zvinokanganisa tsandanyama dzemwana wako, uropi, nemaziso. Kuoma kwezviratidzo izvi kunogona kusiyana. Zvinowanzoonekwa pakuzvarwa kana muhucheche. Zvimwe zviratidzo zvinogona kuisa upenyu panjodzi.

Zviratidzo zvine chekuita netsandanyama

Zviratidzo zvechirwere cheWalker-Warburg zvinokanganisa tsandanyama dzinoshandiswa pakufamba mumwana.

• Kana mwana aberekwa, anogona kuita seasina simba nekuda kwekusasimba kwetsandanyama (hypotonia) . Izvi zvinoita kuti zviomere mwana kusimudza musoro wake, maoko, nemakumbo.
• Dambudziko iri rinoita kuti tsandanyama dzemwana dzishaye simba zvishoma nezvishoma , zvichireva kuti zviratidzo zvinoramba zvichiwedzera nekufamba kwenguva.
• Nekuti tsandanyama dzemwana hadzisi kushanda zvakanaka, zvinogona kuoma kunwa mukaka achiri mudiki . Vanogona kusakwanisa kuyamwa kana kumedza zvakanaka.

Zviratidzo zvine chekuita nehuropi

Walker-Warburg Syndrome inokanganisa kukura kweuropi hwemwana wako. Zviratidzo zvine chekuita neuropi zvinogona kusanganisira:

• Lissencephaly (uropi hwakatsetseka) chirwere apo uropi hunoita sehune mapundu pamusoro pahwo, pasina makomba kana migero yakajairika. Nemamwe mashoko, pamusoro peuropi hunoita sehune mapundu.
• Kuungana kwemvura muuropi(Hydrocephalus - musoro wemvura) Izvi zvinogona kukonzera kuti musoro ukure.
• Kusarongeka kwekukura kweuropi neuropi kana chirwere chinonzi cerebellar cyst (Dandy-Walker malformation) .
• Kubatwa nepfari , kureva, mamiriro akaita sepfari.

Matambudziko aya, anokanganisa uropi hwemwana wako, anogona kukonzera kunonoka kukura uye matambudziko epfungwa .

Zviratidzo zvine chekuita nemaziso

Chirwere cheWalker-Warburg chinogona kukanganisa kukura kwemaziso emwana wako uye kukonzera zviratidzo zvakaita se:

• Maziso madiki (Microphthalmia) kana maziso makuru (Buphthalmos) .
• Kusviba kwemaziso, zvinoreva kuti lenzi yeziso yashanduka kuita chena (Cataracts) .
• Kunonoka kwekutumira mameseji kuburikidza netsinga dzemaziso dzinotumira mameseji kubva kumaziso kuenda kuuropi.
• Kuomerwa nekuona zvakajeka (kusaona zvakanaka) .

Chii chiri kukonzera izvi? Sei izvi zviri kuitika?

Chirwere cheWalker-Warburg chinokonzerwa nekuchinja kwemajini . Majini anopfuura gumi nemaviri akawanikwa anokonzera chirwere ichi, uye panogona kunge paine mamwe asati aonekwa. Mamwe ekuchinja kwemajini makuru anokonzera chirwere ichi muvanhu vanopfuura hafu yevanhu vese vane Walker-Warburg Syndrome ndeaya:

• `POMT1`
• `POMT2`
• `CRPPA` (yaimbozivikanwa se`ISPD`)
• `FKTN`
• `FKRP`
• `HOMBE1`
• `POMGNT1`
• `ISPD`
• `GTDC2`
• `DAG1`

Majini aya anokanganisa maitiro ekuwedzera mamorekuru eshuga muprotein inonzi alpha-dystroglycan , maitiro anonzi glycosylation . Kana maitiro aya eglycosylation asingaitike zvakanaka, tambo dzemhasuru dzemwana hadzigone kuchengetedza chimiro chadzo mumuviri. Mapuroteni aya anokanganisawo kufamba kunoita masero etsinga muuropi panguva yekukura kwemwana, izvo zvinokonzeresa chirwere cheuropi chinonzi lissencephaly chambotaurwa.

Zvichitaurwa zviri nyore, tsandanyama dzemwana ane Walker-Warburg Syndrome dzinogara dzichioma uye dzichireruka. Nekufamba kwenguva, tsandanyama idzi dzinokuvara uye dzinoshaya simba kusvika pakusagona kushanda.

Pamusoro pezvo, Walker-Warburg Syndrome inokanganisa kufamba kwema neuron muuropi hwemwana. Kazhinji, ma neuron anofanira kumira kana asvika kwaanoenda. Zvisinei, ma neuron akabatwa anofambawo achipinda mumvura yakakomberedza uropi hwemwana. Izvi zvine mhedzisiro yakakura pakukura kweuropi.

Walker-Warburg Syndrome inoonekwa sei?

Chiremba wako anogona kutanga kuongororwa chirwere cheWalker-Warburg Syndrome panguva yekuzvitakura, uye chirwere chacho chinozosimbiswa mushure mekunge mwana aberekwa.

• Kuongororwa kweultrasound panguva yekuzvitakura kunogona kuona zviratidzo, kunyanya izvo zvinokanganisa uropi hwemwana.
• Mushure mekunge mwana azvarwa, bvunzo dzemifananidzo dzakadai seCT scans neMRIs dzinogona kupa mufananidzo wakajeka wehuropi hwemwana uye kuongorora mamiriro acho ezvinhu.

Kune bvunzo dzinoverengeka dzekusimbisa kuongororwa kweWalker-Warburg Syndrome:

• Kuongororwa kwetsandanyama dzemwana kunoitirwa kuti uone kana tsandanyama dzemwana dzakagwinya. Izvi zvinosanganisira kutora tsandanyama diki woiongorora.
• Kuongororwa ropa kuti uone huwandu hweCreatine Kinase (CK) muropa. CK ienzyme inoburitswa muropa kana tsandanyama dzaputsika. Kuwanda kweCK kunoratidza kukuvara kwetsandanyama.
• Kuongororwa kwemaziso emwana kuti uone kana aine chirwere cheWalker-Warburg Syndrome.
• Kuongororwa kweropa remajini kuti uone jini rakachinja-chinja riri kukonzera zviratidzo.

Ndezvipi zvinorapwa izvi?

Zvinosuwisa kuti hapana mushonga weWalker-Warburg Syndrome. Saka, kurapwa kwakanangana nekuderedza zviratidzo. Nzira dzekurapa dzinogona kusiyana pamwana wega wega akaonekwa aine chirwere ichi, zvichienderana nemamiriro emwana. Nzira dzekurapa dzingasanganisira:

• Kuvhiyiwa kubvisa mvura yakawandisa muuropi (hydrocephalus).
• Kupa mishonga yekudzivirira pfari.
• Kurapa kwemuviri kuti usimbise tsandanyama.
• Kana uchinetseka kudya, kuisa chubhu yekudyisa kunogona kubatsira.

Chinangwa chekurapa Walker-Warburg Syndrome ndechekudzivirira zviratidzo zvinogona kutyisidzira hupenyu uye kubatsira kuwedzera makore ekurarama kwemwana.

Pane nzira yekudzivirira chirwere cheWalker-Warburg here?

Walker-Warburg Syndrome chirwere chinokonzerwa nemajini, saka hapana nzira yekudzivirira. Kana uchironga kubata pamuviri uye uchida kuziva njodzi yako yekuva nemwana ane chirwere chemajini, zvakanaka kutaura nachiremba wako nezvekuongororwa kwemajini kana mazano ezvemajini .

Kana mwana wangu aine chirwere ichi, chii chandinofanira kutarisira?

Walker-Warburg Syndrome chirwere chinoramba chichienderera mberi. Izvi zvinoreva kuti zviratidzo zvinogona kunge zvisina kunyanya kuipa pakutanga, asi zvinotowedzera kuipa nekufamba kwenguva. Izvi zvinganzwika sezvisingafadzi, asi vacheche vane chirwere ichi vanowanzo rarama kwenguva pfupi , kazhinji kusvika paudiki. Chiremba wemwana wenyu achapa mushonga wekudzivirira zviratidzo zvinogona kutyisidzira hupenyu uye kuwedzera hupenyu hwemwana wenyu. Yeukai, hapana mushonga wechirwere ichi.

Nekuongororwa kwemwana wako, zvakakosha kuti uzvitarisire. Zvinogona kukubatsira iwe nemhuri yako kutaura nenyanzvi yezvemajini kuti ikubatsire kunzwisisa nekugadzirisa kuongororwa kwemwana wako uye nzira dzekurapa. Nyanzvi yehutano hwepfungwa inogonawo kukubatsira kugadzirira uye kugadzirisa kurasikirwa kamwe kamwe kunouya nekuongororwa kwemwana wako. Mapoka ekutsigirana anogona kuva nyaradzo huru kumhuri munguva dzino dzakaoma.

Ndinofanira kuenda nemwana wangu kuna chiremba riini?

Kana mwana wako akaratidza zviratidzo zveWalker-Warburg Syndrome, kunyanya kusakwanisa kudya , fonera chiremba wemwana wako nekukasika. Zvakare, zivisa chiremba wako kana zviratidzo zvemwana wako zvikadzoka kamwe kamwe kana kuti zvikawedzera , kunyangwe kurapwa kwakabudirira kuderedza zviratidzo.

Mwana wako ari panjodzi yekubatwa nepfari . Kana ukaona mwana wako achirasikirwa nepfungwa kwenguva pfupi, achigwinha-gwinha kana kufamba-famba zvisingadzoreki, kana achiratidzika kunge avhiringidzika, achitya, kana kuti asina kuzorora, enda kuchipatara nekukurumidza.

Mibvunzo ipi yandinofanira kubvunza chiremba wemwana wangu?

Ungave nemibvunzo yakawanda munguva ino yakaoma. Edza kubvunza chiremba wemwana wako mibvunzo iyi:

• Mwana wangu anofanira kuvhiyiwa here?
• Ndezvipi migumisiro yekurapa?
• Ndingaitei kana mwana wangu aine pfari?
• Ndinofanira kuenda nemwana wangu kakawanda sei kunoongororwa hutano hwake?

Kuwana kuti mwana wako achangoberekwa ane chirwere chemajini chinomutadzisa kurarama hupenyu hwakazara kunogona kuva chiitiko chinoshungurudza zvikuru. Nekuongororwa uku kwakaoma, chiremba wako achapa mishonga yekudzivirira zviratidzo zvinogona kutyisidzira hupenyu hwemwana wako uye kuwedzera makore ekurarama kwemwana wako. Kuongororwa kwemwana wako kunogona kushungurudza iwe nemhuri yako, saka iva nechokwadi chekuti wawana rutsigiro rwaunoda. Vanhu vazhinji vanoona kurairwa kwemajini kuchibatsira kudzidza zvakawanda nezvekutarisira mwana wavo. Nyanzvi yehutano hwepfungwa inogona kukubatsira kudzora kushushikana, kugadzirira uye kubata nekurasikirwa kusingatarisirwi. Kana uchida rubatsiro, taura nachiremba wako uye mutsigire.

Pfupiso: Mharidzo Yekuenda Nayo Kumba

• Walker-Warburg Syndrome chirwere chisingawanzoitiki asi chakakomba zvikuru.
• Izvi zvinonyanya kukanganisa tsandanyama dzemwana, uropi, nemaziso .
• Zviratidzo zvinosanganisira kushaya simba kwetsandanyama (floppy baby), kutadza kushanda zvakanaka kweuropi (lissencephaly, hydrocephalus), pfari, uye matambudziko emaziso .
• Izvi zvinokonzerwa nekusakwana kwemajini kunobva kuvabereki vese .
• Kunyange hazvo pasina mushonga, kune mishonga yekudzora zviratidzo uye kuwedzera makore ekurarama .
• Zvakakosha zvikuru kuti vabereki nemhuri varambe vakasimba mupfungwa uye vawane rutsigiro rwakakodzera munguva yakaoma kudaro. Kupa mazano nezvemajini uye rutsigiro rwehutano hwepfungwa zvichabatsira mune izvi.

Ndinovimba ruzivo urwu rwakubatsira kunzwisisa chirwere ichi chisingawanzoitiki. Yeuka, hausi wega, uye vanachiremba nevapi vemazano vakagadzirira kukubatsira.

" Walker-Warburg syndrome, zvirwere zvemajini, kushaya simba kwetsandanyama, zvikanganiso zveuropi, zvirwere zvemaziso, kusagadzikana kwetsandanyama dzekuzvarwa nadzo, hutano hwevana."