Mwana wako ane zviratidzo izvi here? Ngatidzidzei nezveCHARGE Syndrome.

Vanaamai nababa, hamugari muchinetseka nezvehutano hwemwana wenyu here? Dzimwe nguva, kunyangwe zvirwere zvidiki zvinouya nevana vacheche zvinogona kutyisa. Nhasi tichataura nezvechirwere chisingawanzoitiki, asi chakakosha kuziva nezvacho. Ichi chinonzi CHARGE Syndrome . Izvi zvingave zvitsva kwamuri, asi musazvidya mwoyo. Ngatitaurei nezvazvo zviri nyore uye nenzira yamunonzwisisa.

Chii chinonzi CHARGE Syndrome? Zvichitaurwa zviri nyore...

CHARGE syndrome chirwere chisingawanzoitiki chemajini . Chinogona kukanganisa nhengo dzakasiyana dzemuviri wemwana wako. Funga nezvazvo, maziso, tsinga, moyo, mhino, nhengo dzesikarudzi, nenzeve ndidzo nzvimbo huru dzinobatwa. Vana vane chirwere ichi vanogona kunge vaine chimiro chakasiyana chechiso uye musanganiswa wezviratidzo. Vanachiremba vanoongorora chirwere ichi zvichibva pazvinhu izvi zvese.

Chinhu chakakosha ndechekuti havasi vana vese vane CHARGE syndrome vakafanana. Zviratidzo uye hunhu hwavo zvinogona kusiyana kubva pamwana mumwe kuenda kune mumwe. Zvimwe zvinhu zvisina kujairika zvinogona kutanga mudumbu, uye mamiriro acho anogona kukanganisa mwana nenzira dzakasiyana, kwemakore mazhinji.

Ndiani anogona kuva neCHARGE syndrome?

Ichi chirwere chemajini chinogona kukanganisa chero munhu. Kazhinji, chinokonzerwa nekuchinja kwemajini kutsva . Izvi zvinoreva kuti hapana munhu mumhuri akambova nacho. Dzimwe nguva, mwana anogona kugara nhaka iyi gene yakachinja kubva kune mumwe wevabereki panguva yekubata pamuviri. Kuchinja kwemajini uku kunoitika zvisina tsarukano. Saka, hapana chingaitwe nevabereki kudzivirira chirwere ichi, kungave vasati vasvika kana panguva yekuzvitakura.

Mamiriro ezvinhu aya akajairika zvakadii?

CHARGE syndrome chirwere chisingawanzoitiki . Pasi rose, zvinofungidzirwa kuti mwana mumwe chete pavana 8,500 kusvika ku10,000 vacheche ndiye anobatwa nechirwere ichi.

CHARGE syndrome inokanganisa sei muviri wemwana wangu?

Kana jini rinokonzera chirwere ichi rikachinja, masero edu haawani mirairo yaanoda kuti akure uye ashande zvakanaka. Ndosaka zvichikanganisa nhengo dzakawanda dzemuviri. Zviratidzo zvinogona dzimwe nguva kuva zvishoma, asi dzimwe nguva zvinogona kuva zvakanyanya uye zvinotoisa upenyu panjodzi . Izvi zvinonyanya kuitika kana moyo wemwana nenhengo dzemukati dzisina kukura zvakanaka panguva yaanenge achikura mudumbu.

Chiremba wako achanyatsoongorora kukura kwemwana wako kunyangwe asati aberekwa. Izvi zvinoitirwa kugadzirira kusvika kwemwana wako uye kuronga kurapwa nekukurumidza kudzivirira matambudziko anotyisidzira hupenyu. Izvi zvinonyanya kukosha kana zviratidzo zvichikanganisa zvinhu zvakaita semoyo, kufema, kana kudya.

Ndezvipi zviratidzo zveCHARGE syndrome?

Mabhii ari muzita rekuti CHARGE anogona kukubatsira kurangarira zvimwe zvezviratidzo zvikuru zvechirwere ichi.

• C - Kusagadzikana kwetsinga dzeropa nedzemusoro:
• Kurasikirwa kwechikamu chenyama muziso. Izvi zvingaita sekucheka kudiki muziso.
• Matambudziko ekuenzanisa uye kubatana.
• Kuoma kwerumwe rutivi rwechiso.
• Kunzwa kunhuhwidza kushoma.
• H - Zvikanganiso zvemwoyo:
• Chirwere chemwoyo chinowanikwa pakuzvarwa (congenital). Semuenzaniso, mamiriro akadai se tetralogy of Fallot , ventricular septal defect , atrioventricular canal defect, uye/kana aortic arch abnormalities .
• A - Atresia yechoanae:
• Kuvharika kwemhino kana kuti nzira dzemhino dzakatetepa kunogona kukonzera matambudziko ekufema uye kufema zvisina kugadzikana.
• R - Kurambidzwa kwekukura nekukura:
• Mwana anoda nguva yekuwedzera kuti asvike pahurefu neuremu zvinoenderana nezera rake.
• Zvinotorawo nguva yakawanda kuti munhu asvike padanho rekukura rinoenderana nezera rake.
• G - Zvisina kunaka zvenhengo dzesikarudzi:
• Muvakomana, nhengo yemurume idiki (micropenis) uye/kana kuti machende haaburuke (cryptorchidism) .
• E - Kusakwana kwenzeve:
• Zvisina kujairika zvakaita senzeve dziri kubuda uye nzeve dzisina mativi.
• Kutadza kunzwa zvakanaka, pamwe kutotadza kunzwa.

Kunyange zvazvo zviratidzo zvakawanda zvichionekwa pakuzvarwa, dzimwe nguva chirwere ichi chinogona kuonekwa gare gare muhupenyu, kana zviratidzo zvikaonekwa gare gare.

Ndezvipi zvimwe zviratidzo zvekuwedzera?

Kuwedzera kune zviratidzo zvikuru izvi, zvimwe zviratidzo zvinogona kusanganisira:

• Kuomerwa nekumedza chikafu nechinwiwa.
• Matambudziko ekukura kwepfungwa.
• Muromo wakapwanyika kana kuti mukanwa wakapwanyika.
• Kushaya simba kwetsandanyama (Hypotonia).
• Kusashanda zvakanaka kweitsvo: kuwanda kwemvura muitsvo (hydronephrosis) , kubuda kweweti muitsvo, kana kuti itsvo diki kana kuti isipo.
• Kusashanda zvakanaka kwenzira inobva pagurokuro ichienda mudumbu (esophageal atresia) .
• Kuzvidya mwoyo kana maitiro ekuzvidya mwoyo.
• Kurwara kwemusoro (scoliosis ).

Zvinhu zvakakosha zvinoonekwa pachiso

Vana vane CHARGE syndrome vanogonawo kuva nezvimwe zvinhu zvekumeso:

• Chiso chakaita semativi mana.
• Huma yakafara.
• Tsiye dzakakombama.
• Maziso makuru.
• Maziso akarembera.
• Muromo mudiki nechirebvu.
• Chiso chisina kuenzana.

Chii chinokonzera CHARGE syndrome?

Izvi zvingangodaro zvichikonzerwa nekuchinja kwemajini mujini `CHD7`.. Iri jini re 'CHD7' rinorayira masero edu kugadzira puroteni inoisa DNA yedu mumakromosomu. Sekuputira chipo. Iyi DNA yakaputirwa inogona kuchinja saizi yayo nechimiro (kugadzirisa), zvichireva kuti inogona kuputirwa zvakasimba kana kuti zvisina kusimba zvichienderana nezvinodiwa nekromosomu yega yega.

Mumunhu ane CHARGE syndrome, jini re`CHD7` harigadzire mapuroteni nemazvo. Zvadaro mamorekuru eDNA haagone kurongedzwa zvichienderana nemirairo. Ndosaka zviratidzo izvi zvichionekwa.

Kashoma, vamwe vanhu vane CHARGE syndrome havana shanduko mujini re'CHD7'. Kana kuti vanogona kunge vaine shanduko mune rimwe jini muDNA yavo. Izvi zvikonzero zvisingawanzoitiki zvichiri kuongororwa. Kupa mazano ezvemajini kwakakosha zvikuru mumamiriro ezvinhu akadaro.

Ko CHARGE syndrome inogona kugarwa nhaka here?

Ehe, ichi chirwere chinogona kugarwa nhaka. Kana munhu akagara nhaka kopi imwe chete yejini reCHD7 rakachinja panguva yekubata pamuviri, zviratidzo zvinogona kuitika. Izvi zvinonzi autosomal dominant transmission. Zvisinei, kazhinji, shanduko idzi dzemajini dzinoitika sekuchinja kwe de novo. Izvi zvinoreva kuti hapana munhu mumhuri akambova nechirwere ichi kare. Mubereki ane vana vaviri vane CHARGE syndrome, kana munhu ane CHARGE syndrome, ane mukana we50% wekuva nemwana ane chirwere ichi.

Chirwere cheCHARGE chinowanikwa sei?

Chiremba wemwana wenyu achatanga aongorora mwana wenyu kuti aone kana zviratidzo zvikuru zvechirwere ichi zviri pachena. Kuti asimbise chirwere ichi, chiremba achaita bvunzo yemajini . Izvi zvinosanganisira kutora ropa diki uye kutsvaga shanduko mujini reCHD7.

Kuti uve nechokwadi chekuti zviratidzo zvemwana wako hazvisi pangozi, ungangoda kuwedzerwa ropa, weti, kana bvunzo dzemifananidzo. Izvi zvinoitwa kuti utarise hutano hwenhengo dzemukati dzemwana wako. Miedzo iyi inosiyana kubva kumwana kuenda kumwana, zvichienderana nezviratidzo zvake. Taura nachiremba wako nezvemimwe miedzo ingangodiwa kuti uve nechokwadi chekuti mwana wako ane hutano.

Chirwere cheCHARGE chinorapwa sei?

Kurapwa kweCHARGE syndrome kunosiyana kubva pamwana kuenda kumwana. Chinangwa chikuru ndechekuderedza zviratidzo zvemwana. Sarudzo dzekurapa dzingasanganisira:

• Kuvhiyiwa kwezvirwere zvakaita se cleft lip kana palate, chirwere chemwoyo, kana choanal atresia.
• Kutora chikamu mukurapa kwemabasa, kurovedza muviri, kana kurapa kutaura kuti udzidzise mwana wako tsika dzakanaka dzekudya uye kukunda matambudziko ekutaura nemutauro.
• Kuisa chubhu yekudyisa mwana kuti adye kusvika adzidza kumedza.
• Kushandisa muchina wekufema kana weCPAP kubatsira nematambudziko ekufema kana kushaya hope.
• Kune vane matambudziko ekunzwaKushandisa zvinhu zvinobatsira kunzwa kana kuti cochlear implants.
• Kutumirwa kune dzidzo yakakosha kuti kuwedzere kukura kwepfungwa.
• Kupa mishonga yezviratidzo chaizvo.

Murongi wezvekurapa ndiye munhu akakosha pakubata chirwere ichi zvinobudirira uye kupa rutsigiro rwepfungwa. Bvunza chiremba wako kuti akupe rumwe ruzivo.

Ndingatarisira sei mwana wangu ane CHARGE syndrome?

Mwana ane CHARGE syndrome angangoda nguva yakawanda kuti akure uye akure. Anogona kunge ari kumashure zvishoma pamatanho akakodzera zera rake, akadai sekugara pasi pasina rutsigiro kana kutaura. Mumakore mashoma ekutanga ehupenyu, nyatso tarisa matanho ekukura kwemwana wako. Udza chiremba wako kana mwana wako asina matanho akakodzera. Chiremba wako achatarisa kukura kwemwana wako kumakiriniki uye achatarisa kufambira mberi kwake mumakore. Gara uchiongororwa nguva dzose uye uchiongororwa kuti uve nechokwadi chekuti mwana wako ane hutano sezvaanokura uye haasi panjodzi yekusangana nematambudziko anokonzerwa nekuongororwa.

Ko CHARGE syndrome inogona kudzivirirwa here?

Kwete, CHARGE syndrome chirwere chemajini uye hachigone kudzivirirwa . Kuchinja kwemajini kunokonzera chirwere ichi kunowanzoitika zvisina tsarukano, pasina munhu mumhuri akambova nacho. Saka, zvakaoma kuchiona pachine nguva.

Chii chaungatarisira kubva kumunhu ane CHARGE syndrome?

Kana mwana akaonekwa aine chirwere ichi kekutanga, chiremba achaita bvunzo kuti aone kana moyo wemwana nenhengo dzemukati dziri kushanda zvakanaka uye kana paine zviratidzo zvinogona kutyisidzira hupenyu hwake. Kana paine zvimwe zvinhu zvisina kumira zvakanaka pakukura, kunyanya izvo zvinokanganisa moyo, kuvhiyiwa kunogona kudiwa kuti zvigadziriswe. Vana vacheche vazhinji vanoda rubatsiro pakumedza. Saka, chiremba anogona kuisa chubhu yekudyisa mudumbu remwana kuti ape chikafu chaanoda kuti ararame kusvika agona kumedza ega. Kune mamwe marapirwo akawanda uye rutsigiro rwunowanikwa kuti rusangane nezvinodiwa nehutano hwemwana wako.

Hapana mushonga wakakwana weCHARGE syndrome.

Munhu ane CHARGE syndrome anotarisirwa kurarama kwenguva yakareba sei?

Nguva yekurarama kwemwana achangoberekwa ane CHARGE syndrome inosiyana zvichienderana nekuoma kwezviratidzo zvake. Vacheche vane zviratidzo zvakakomba vane huwandu hwakanyanya hwerufu mukati memakore mashanu ekutanga ehupenyu. Zvisinei, vana vane zviratidzo zvishoma vanogona kurarama hupenyu hwakajairika nerubatsiro rwehupenyu hwavo hwese.

Kana mwana wako akaonekwa aine CHARGE syndrome, taura nachiremba wako nezvezviratidzo zvake uye nguva yaanotarisirwa kurarama kuti umubatsire kurarama hupenyu hunofadza uye hune hutano.

Ndinofanira kuona chiremba wemwana wangu rini?

Enda kuna chiremba kana mwana wako aine chimwe chezvinotevera:

• Kana paine hutachiona panzvimbo yekuvhiyiwa.
• Kana matanho ekukura anoenderana nezera remwana asina kusvikwa.
• Kana usingakwanise kudya kana kunwa.
• Kana uine matambudziko ekunzwa kana kuona.
• Kana uchinetseka nekumedza.

Kana mwana wako achinetseka kufema, kuchinja kweruvara rwemuviri, kuoma kwakanyanya kudya, kana kurova kwemoyo kusina kujairika, enda kuchipatara nekukasika.

Mibvunzo ipi yandinofanira kubvunza chiremba wangu?

• Zviratidzo zvemwana wangu zvakakomba sei?
• Mwana wangu anotarisirwa kurarama kwenguva yakareba sei?
• Mwana wangu anofanira kuvhiyiwa here?
• Pane mimwe migumisiro yakaipa pamishonga yawakanyorerwa here?

Zvakajairika kunzwa wakaremerwa paunoziva kuti mwana wako achangoberekwa ane chirwere chemajini chisingawanzoitiki. Vamwe vabereki nevanotarisira vanoona kupiwa mazano emajini senzira yakanaka yekudzidza zvakawanda nezvekuongororwa kwemwana wavo uye kuti vangamubatsira sei kurarama hupenyu huri nani. Chengeta zvinyorwa zvezviratidzo zvemwana wako uye kana ari kusangana nematanho ekukura kwake kukiriniki. Bata chiremba wako kana uine mibvunzo kana zvinokunetsa nezvehutano hwemwana wako.

Zvinhu zvakakosha zvekurangarira (Mharidzo Yekuenda Kumba)

Kunyange hazvo chirwere cheCHARGE chiri chirwere chinonetsa, kuonekwa kwemwana nekukurumidza, kurapwa kwakakodzera, uye kutarisirwa nerudo zvinogona kubatsira mwana kurarama hupenyu hwakanakisisa.

• Mwana wese akasiyana: Zviratidzo nekuoma kwazvo zvinosiyana kubva pamwana mumwe kuenda kune mumwe. Saka usazvienzanisa nevamwe.
• Rutsigiro rwechikwata chevanhu vane hunyanzvi hwakasiyana-siyana: Kurapa chirwere ichi kunoda nyanzvi dzakasiyana-siyana, varapi, uye mabasa ekutsigira.
• Mwoyo murefu nekunzwisisa: Ipa mwana wako nguva yakawanda uye mutsigire kukura kwake.
• Hausi wega: batana nedzimwe mhuri dzine vana vakaita seizvi, batana nemapoka ekutsigirana. Izvi zvichakupa simba rakawanda.
• Tevedzera mirairo yachiremba wako: Usapotsa nguva yakatarwa yekusangana nemurwere uye bvunzo. Taura nachiremba wako kana uine chero dambudziko.

Yeukai, kunyangwe mwana wenyu aine dambudziko iri, rudo rwenyu, rutsigiro rwenyu, uye nhungamiro yenyu yakakodzera zvinogona kuita mutsauko mukuru muhupenyu hwake.

CHARGE syndrome, zvirwere zvemajini, zvirwere zvevana, kunonoka kukura, zvikanganiso zvemwoyo, kutadza kunzwa, coloboma