Chii chinonzi DiGeorge Syndrome? Zviratidzo, Zvinokonzera, & Kurapa

DiGeorge syndrome chirwere chemagene chinoitika kana chikamu chidiki chechromosome 22 chichipera. Ichi chikamu chichipera chinoita kuti zvikamu zvemuviri wako zvikure zvisina kunaka usati wazvarwa, kunyanya sisitimu yako yekudzivirira muviri, mwoyo, uye matumbu eparathyroid.

Anenge mwana mumwe chete pane 4,000 anozvarwa aine chirwere ichi. Kunyange zvazvo zvingaita sekutyisa pakutanga, vanhu vakawanda vane DiGeorge syndrome vanorarama hupenyu hwazvo hwese, hwakanaka nekuchengetedzwa kwakakodzera kwemishonga nekutsigirwa.

Chii chinonzi DiGeorge Syndrome?

DiGeorge syndrome inoitika kana muviri wako ukashaya chikamu chidiki chemagene ari pachromosome 22. Iyi kushaya kunoita kuti zvikamu zvakawanda zvemuviri zvikure zvisina kunaka panguva yekuzvitakura.

Chirwere ichi chinozivikanwawo se22q11.2 deletion syndrome kana velocardiofacial syndrome. Mazita aya akasiyana anoreva shanduko imwe chete yemagene, kunyange madokota angashandisa mazita akasiyana zvichienderana nezviratidzo zvinonyanya kuoneka.

Zvinhu zvemagene zvisingawanikwi zvine mirairo yekugadzira mapuroteni anobatsira muviri wako kukura zvakanaka. Kana mirairo iyi isingawanikwi, zvinogona kukanganisa gland yako ye thymus, matumbu eparathyroid, mwoyo, uye chitarisiko chechiso.

Ndeapi zviratidzo zveDiGeorge Syndrome?

Zviratidzo zveDiGeorge syndrome zvinogona kusiyana zvikuru kubva kumunhu kuenda kune mumwe munhu. Vamwe vanhu vane zviratidzo zvishoma izvo zvisingakanganisi hupenyu hwavo hwezuva nezuva, nepo vamwe vangave nezvinodiwa zvakaoma zvekuchiremba.

Aya ndiwo zviratidzo zvakajairika zvaunogona kuona:

• Kunetseka kazhinji nekuda kwezvinetso zve sisitimu yekudzivirira muviri
• Kukanganisika kwemwoyo kunogona kukonzera kuoma kufema kana kushaya simba pakudyisa vanaamai
• Kuita kwecalcium yakaderera kunokonzera kurwadziwa kwemhasuru kana kuita zvisina kunaka
• Cleft palate kana zvimwe zvinetso zvekupa vanaamai
• Chitarisiko chechiso chakasiyana sekukura kwakaderera kwechinwe kana maziso akamanikana
• Kunetseka kutaura kana kuoma kudzidza
• Zvinetso zveitsvo
• Kurasikirwa nekunzwa

Vana vakawanda vane DiGeorge syndrome vanosanganawo nekunetseka kukura. Vangafamba kana kutaura gare gare kupfuura vana vamwe, kana kuda rubatsiro rwakawanda pakudzidza nezvinhu zvemagariro.

Vamwe vanhu vanogonawo kuwana matambudziko ehutano hwepfungwa senge kunetseka, kuora mwoyo, kana kuoma kuisa pfungwa sezvo vakura. Aya matambudziko anogona kugadziriswa nerubatsiro rwakakodzera nekurapa.

Chii chinokonzera DiGeorge Syndrome?

DiGeorge syndrome inokonzerwa nekushaya chikamu chechromosome 22. Iyi kushaya kunoitika zvisingatarisirwi panguva yekugadzira masero ekuberekesa kana pakutanga kwazvo kwekuzvitakura.

Muhuwandu hwezviitiko zvinosvika 90%, iyi shanduko yemagene inoitika isingatarisirwi. Izvi zvinoreva kuti hapana mubereki ane iyi kushaya, uye haisi chinhu chavakanga vangadzivirira kana kufanotaura.

Zvisinei, muhuwandu hwezviitiko zvinosvika 10%, mubereki mumwe chete ane iyi kushaya uye anogona kuipasa kumwana wavo. Kana iwe uine DiGeorge syndrome, pane mukana we50% wekuti unogona kuipasa kumwana wako mumwe nemumwe.

Kushaya uku hakukonzerwi nechinhu chipi zvacho chaanoita vabereki panguva yekuzvitakura. Hakusii hukama nechikafu, mararamiro, mishonga, kana zvinhu zvakatipoteredza.

Rini unofanira kuona chiremba nekuda kweDiGeorge Syndrome?

Unofanira kubata nachiremba wako kana ukaona zviratidzo zvekunetseka kazhinji, kuoma kupa vanaamai, kana kunetseka kukura mumwana wako. Kuongororwa nekurapa pakutanga kunogona kuita musiyano mukuru mumibudiriro.

Tsvaka rubatsiro rwekurapa nekukurumidza kana mwana wako akaita zvisina kunaka, matambudziko makuru ekufemesa, kana zviratidzo zvehutachiona hwakakomba senge kupisa kwakanyanya kana kuoma kufema.

Kana uri nepamuviri uye une DiGeorge syndrome iwe pachako, mazano ekurapa emahara anogona kukubatsira kunzwisisa njodzi uye kuronga kuchengetedzwa kwemwana wako.

Kuongororwa nguva dzose kunokosha kune ani naani ane DiGeorge syndrome, kunyangwe zviratidzo zvichitaridzika zvishoma. Matambudziko mazhinji anogona kudzivirirwa kana kurapwa zviri nani kana akaonekwa pakutanga.

Ndeapi njodzi dzeDiGeorge Syndrome?

Njodzi huru yeDiGeorge syndrome ndeyekuve nemubereki ane 22q11.2 deletion. Kana mubereki mumwe chete ane chirwere ichi, mwana mumwe nemumwe ane mukana we50% wekuchiwana.

Zera guru reamai rinowedzera njodzi zvishoma, asi DiGeorge syndrome inogona kuitika mukuzvitakura kwezera ripi neripi. Kazhinji kazhinji inoitika mumhuri dzisina nhoroondo yechirwere ichi kare.

Hapana mararamiro kana zvinhu zvakatipoteredza zvinowedzera njodzi yako yekuve nemwana ane DiGeorge syndrome. Kushaya kwemagene kunoitika zvisingatarisirwi mune kazhinji kazhinji.

Ndeapi matambudziko anogona kuitika eDiGeorge Syndrome?

Kunzwisisa matambudziko anogona kuitika kunogona kukubatsira iwe nechikwata chako chekuchengetedza hutano kuramba muri vakangwarira nezvematambudziko uye kugadzirisa nekukurumidza. Yeuka kuti kwete munhu wese ane DiGeorge syndrome achaona matambudziko aya ese.

Matambudziko akajairika anosanganisira:

• Kunetseka kazhinji nekuda kwekushaya simba kwesisitimu yekudzivirira muviri
• Matambudziko emwoyo anoda kuvhiya kana kuongororwa nguva dzose
• Kuita kwecalcium yakaderera kunokonzera kuita zvisina kunaka kana matambudziko emhasuru
• Kunetseka kutaura nemutauro
• Kunetseka kudzidza kana matambudziko ekufunga
• Matambudziko ehutano hwepfungwa kana ehutano hwepfungwa

Matambudziko asingawanzoitika asi akakomba anogona kusanganisira:

• Kushaya simba kwakakomba kwesisitimu yekudzivirira muviri kunoda kupandikirwa kwemapfupa emoyo
• Matambudziko emwoyo anotyisa hupenyu
• Matambudziko akakomba eitsvo
• Zvirwere zve autoimmune umo muviri unorwisa tishu dzake
• Schizophrenia kana zvimwe zvirwere zvepfungwa pakuva mukuru

Kuongororwa nguva dzose nekutarisirwa kudzivirira kunogona kubatsira kubata nekurapa matambudziko mazhinji usati asvika pakakomba. Chikwata chako chekuchengetedza hutano chichagadzira chirongwa chekurapa chakagadzirirwa zvinoenderana nezviratidzo zvako zvakasarudzika nezvinodiwa.

DiGeorge Syndrome inoziiwa sei?

DiGeorge syndrome inoziiwa nekuongororwa kwemagene kunoona kushaya kwechikamu chechromosome 22. Iyi bvunzo inogona kuitwa nesample yeropa rakareruka.

Chiremba wako angatanga kufungidzira DiGeorge syndrome zvichienderana nezviratidzo zvemuviri senge kukanganisika kwemwoyo, chitarisiko chechiso chakasiyana, kana kunetseka kazhinji. Vachabvunzawo nezvenhoroondo yemhuri yako uye zvikamu zvekuvandudzika.

Kuongororwa kuwedzerwa kunogona kusanganisira kuongororwa kweropa kuongorora mazinga ecalcium uye basa resisitimu yekudzivirira muviri, kuongororwa kwemwoyo kutsvaga kukanganisika, uye kuongororwa kwekunzwa kana itsvo zvichienderana nezviratidzo zvako.

Bvunzo yemagene, inonzi chromosomal microarray kana FISH testing, inogona kusimbisa kuongororwa nekuenzanisa kwe100%. Mhinduro kazhinji inotora mazuva mashoma kusvika pavhiki.

Kurapa kweDiGeorge Syndrome ndekupi?

Kurapa kweDiGeorge syndrome kunotarisa pakugadzirisa zviratidzo zvakasarudzika uye kudzivirira matambudziko. Hapana mushonga wechirwere chemagene pachacho, asi zviratidzo zvakawanda zvinogona kurapwa zvinobudirira.

Kurapa kwakajairika kunosanganisira:

• Calcium ne vitamin D zvinowedzerwa zvekuita kwecalcium yakaderera
• Antibiotics kudzivirira hutachiona
• Kuvhiya kwemwoyo kwekukanganisika kwemwoyo
• Kurapa kutaura kwekukanganisa kutaura
• Mabasa ekudzidzisa ekudzidza zvinetso
• Rutsigiro rwehutano hwepfungwa kumatambudziko ehutano hwepfungwa

Vamwe vanhu vane matambudziko akakomba esisitimu yekudzivirira muviri vangada kurapwa kwakanyanya senge immunoglobulin therapy kana, mumamiriro ezvinhu asingawanzoitika, kupandikirwa kwe thymus.

Chikwata chako chekuchengetedza hutano chichava chinosanganisira nyanzvi senge cardiologists, immunologists, endocrinologists, uye developmental pediatricians. Vachashanda pamwe chete kugadzira chirongwa chekurapa chakakwana chakagadzirirwa zvinoenderana nezvinodiwa zvako.

Maitiro ekutarisira kumba panguva yeDiGeorge Syndrome?

Kutarisira kumba kunotarisa pakudzivirira hutachiona, kutsigira kukura, uye kuchengetedza hutano hwazvo hwese. Zviito zvemazuva ese zviri nyore zvinogona kuita musiyano mukuru muhupenyu hwako.

Kudzivirira hutachiona, ita kuchenesa kwakanaka kwemaoko uye dzivisa nzvimbo dzakazara panguva yekupararira kwezvirwere. Rambai muchiita majekiseni anokurudzirwa, kunyange zvazvo mamwe majekiseni erarama angave asina kukodzera zvichienderana nebasa resisitimu yako yekudzivirira muviri.

Tsigira kukura kwekutaura nemutauro nekurava pamwe chete, kuimba nziyo, uye kukurudzira kutaura. Mabasa ekutanga ekubatsira anogona kupa rubatsiro rwakawedzerwa kumba.

Tarisa zviratidzo zvecalcium yakaderera senge kurwadziwa kwemhasuru, kuchema, kana kuita zvisina kunaka. Tora zvinowedzerwa zvakanyorwa nguva dzose uye chengetedza nguva dzakajairwa dzekudya.

Gadzira nharaunda inotsigira kudzidza nekukura. Izvi zvinogona kusanganisira maitiro ekuona, maitiro akasimba, uye kupatsanura mabasa kuva matanho madiki.

Unofanira kugadzirira sei kuenda kuchiremba?

Usati waenda kuchiremba, nyora zviratidzo zvese zvawaona, kusanganisira nguva yavakatanga uye kakawanda kwavanoitika. Izvi zvinobatsira chiremba wako kunzwisisa zvese.

Uya nehuremu hwemishonga yese nezvinowedzerwa zvauri kutora, kusanganisira zvikamu uye kakawanda kwaunotora. Cherechedzawo chero allergies kana kuita kwemishonga.

Gadzira mibvunzo nezvechirongwa chako chekurapa, zviratidzo zvekuona, uye nguva yekutsvaka rubatsiro rwekurapa nekukurumidza. Usanetseka kubvunza nezvechinhu chipi zvacho chinokunetsa.

Kana uri kuona nyanzvi itsva, uya nemakopi emhedzisiro yekuongorora ichangobva kuitwa uye pfupiso yenhoroondo yako yekurapa. Izvi zvinobatsira kunzwisisa mamiriro ako azvino nekukurumidza.

Chii chinonyanya kukosha nezveDiGeorge Syndrome?

DiGeorge syndrome chirwere chemagene chinogona kugadziriswa chinoita kuti vanhu vave vakasiyana. Nekuchengetedzwa kwakakodzera kwemishonga nekutsigirwa, vanhu vakawanda vane chirwere ichi vanorarama hupenyu hwazvo hwese, hunobatsira.

Kuongororwa nekurapa pakutanga zvinokosha kwazvo kuti pave nemhedzisiro yakanaka. Kuongororwa nguva dzose kunobatsira kubata nekurapa matambudziko usati asvika pakakomba.

Yeuka kuti kuva neDiGeorge syndrome hakusi kukutsanangurira iwe kana mwana wako. Kunyange zvazvo zvingave nezvinetso zvakati, zvinouyawo nesimba rakasarudzika nemaonero anowedzera kumhuri yako nemunharaunda.

Batanidza nemapoka ekutsigira nezvinhu zviri munzvimbo yako. Mhuri dzimwe dzinosangana neDiGeorge syndrome dzinogona kupa mazano anokosha, kukurudzira, uye mazano anoshanda.

Mibvunzo inobvunzwa kazhinji nezveDiGeorge Syndrome

DiGeorge syndrome inogona here kuwanikwa panguva yekuzvitakura?

Hongu, DiGeorge syndrome inogona kuwanikwa panguva yekuzvitakura nekuongororwa kwemagene senge amniocentesis kana chorionic villus sampling. Ultrasound inogonawo kuratidza kukanganisika kwemwoyo kana zvimwe zvinhu zvinoratidza chirwere ichi. Zvisinei, kwete zviitiko zvese zvinoonekwa usati wazvarwa.

Upenyu hurefu hweumwe munhu ane DiGeorge syndrome ndihupi?

Upenyu hurefu hunochinja zvikuru zvichienderana nekuoma kwezviratidzo, kunyanya kukanganisika kwemwoyo nematambudziko esisitimu yekudzivirira muviri. Vanhu vakawanda vane zviratidzo zvishoma vane upenyu hurefu hunowanzoitika, nepo avo vane matambudziko akakomba vangasangana nezvinetso zvakawanda. Kuongororwa nekurapa kwakakwana kunovandudza zvikuru mhedzisiro.

Mwana wangu ane DiGeorge syndrome achakwanisa here kupinda chikoro chakajairika?

Vana vakawanda vane DiGeorge syndrome vanogona kupinda chikoro chakajairika nerubatsiro rwakakodzera. Vamwe vangada mabasa ekudzidzisa ekudzidza zvinetso. Chinhu chikuru ndekushanda nedhisitirikiti rechikoro rako kugadzira chirongwa chekudzidzisa chakagadzirirwa zvinoenderana nezvinodiwa nemwana wako.

DiGeorge syndrome inogona kuipa here nekufamba kwenguva?

DiGeorge syndrome pachayo haiipe, asi matambudziko mamwe anogona kuitika kana kuchinja nekufamba kwenguva. Semuenzaniso, matambudziko ehutano hwepfungwa angaonekwa pakuva mudiki kana pakuva mukuru. Kuongororwa nguva dzose kwemishonga kunobatsira kuziva nekugadzirisa matambudziko matsva sezvaanoitika. Zviratidzo zvakawanda zvinonyatsogadziriswa nerurapwo rwakakodzera nekutsigirwa.