Nzira yekuita sei chinangwa chechirwere ichi chakaoma
Muna 1981, izwi CHARGE rakasikwa kurondedzera masumbu ematambudziko ekuzvarwa akange aonekwa muvana. CHIKAMU chinomirira:
- Coloboma (ziso)
- Mwoyo kukanganisa kwemarudzi ose
- Atresia (choanal)
- Kurasikirwa (kwokukura uye / kana kukura)
- Genital rinaly
- Nzeve inonyangadza
Yakakurudzirwa kuti kuongororwa kwechirwere kunobva pakuvapo kwezvinhu zvina izvi.
Kubva panguva iyo, vanachiremba vakaziva kuti tsanangudzo iyi nemutemo wekuongororwa hazvifungi nezvimwe zvakawanda zvechimiro cheCARGE syndrome, kana kuti vamwe vana vane chirwere havakwanise kugadziriswa.
Genetics yeCARGE Syndrome
A gene inobatanidza ne CHARGE syndrome yave ichinyatsoonekwa pane chromosome 8 uye inosanganisira kuchinja kwechirwere che CHD7 (iyo CHD7 geni ndiyo chete geni iye zvino inonzwa kuti inobatanidzwa nechirwere.) Kunyange ikozvino yava kuzivikanwa kuti CHARGE syndrome chirwere chakakomba chirwere inokonzerwa nehutachiona hunokanganisa, zita harina kuchinja. Kunyange zvazvo CHD7 kuchinja kwezvinhu zvikawana nhaka muchitarisiko chakakura chinotaridzika , kazhinji kacho chinobva pakutsvaga mutsva uye kacheche kazhinji kacho chete mwana mumhuri ane chirwere.
Nharaunda yeCARGE Syndrome
CHARGE syndrome inowanikwa munenge 1 kubva muna 8 500 kusvika ku10 000 kuberekwa munyika yose.
Zviratidzo zve CHARGE Syndrome
Zviratidzo zvemuviri ane CHARGE syndrome zvinokonzera kubva kune zvakashata kusvika zvakanyanya. Mwana mumwe nomumwe akaberekwa ane chirwere angave ane matambudziko akasiyana-siyana uye zvimwe zvezvinhu zvakanyanya kufanana kana kukanganisa kuberekwa ndezvi:
C- Coloboma yeYiso:
- Izvi zvirwere zvinokanganisa makumi mapfumbamwe kusvika ku90 kubva muzana zvevanhu vanoongororwa vane CHARGE syndrome
- A coloboma ine fissure (crack) kazhinji kumashure kweziso
- Rimwe kana maziso ose anogona kunge ari maduku (microphthalmos) kana kuti haasi (anophthalmos)
C ingangodaro ichitaura nezveCranial Nerve Abnormality:
- 90 kusvika kuzana muzana yevanhu vane CHARGE syndrome vane kuderera kana kukwana zvakakwana kwekunzwa kunhuhwirira (anosmia)
- 70 kusvika ku80 muzana yevanhu vane dambudziko rokumedza.
- Kuora muviri kwepasipo ( palsy ) pane imwe kana kumativi ose maviri kunoitika mu50 kusvika ku90 muzana yevanhu vane chirwere
H- Mwoyo Wakarurama:
- 75 muzana yevanhu vanobatwa nemhando dzakasiyana dzematambudziko emwoyo
- Chiremera chepfungwa chinowanzova gomba mumoyo ( inrial septal defect )
A- Atresia weChoanae:
- An atresia inoreva kusavapo kwekufamba kwemuviri mumuviri. Mune vanhu vane CHARGE syndrome, mushure mechivi chemupfudze pane imwe kana mativi ose maviri akaomeswa (stenosis) kana kuti haabatanidzi nechekumusoro kwehuro (atresia)
- Iyi atresia iripo muna 35 kusvika ku65 muzana yevanhu vane CHARGE syndrome
R- Kukanganwa (Mfungwa uye Kukura)
- 70 muzana yevanhu vanobatwa neCHIKURU vakaderera IQs iyo inogona kubva kune inowanzova yakashata kukura kwepfungwa
- 80 muzana yevanhu vanobatwa nekukurumidza kukurumidza, uye kukura uku kukura kunowanzowanikwa mumwedzi mitanhatu yeupenyu apo rucheche runokundikana kukura kazhinji
- Kukura kwekuwedzera kunokonzerwa nekukura kwehomoni uye / kana kuderedza dambudziko (kukura kwomwana kunowanzoita kuti abate pashure pechecheche)
G- Genital Underdevelopment:
- Zvipembenene zvisingaverengeki chiratidzo chechirwere cheCHARGE syndrome muvarume, asi kwete zvakanyanya nevakadzi
- 80 kusvika ku90 muzana yevarume vanobatwa nehutachiona hwepasi, asi 15 kusvika ku25 muzana yevakadzi vane chirwere
Ereve Kutadza Kuipa:
- Nzeve dzisina kunaka dzinobata 95 kusvika kuzana muzana yevanhu vane dambudziko rekunze kwekunze kunogona kuonekwa
- 60 kusvika ku90 kubva muzana yevanhu vanotarisanawo nezvinetso munzeve dzomukati, dzakadai sekusava nemafungiro emagetsi emarara kana nhengo dzemawere dzinogona kuita kuti matsi
Kune dzimwe dzakawanda zvinetso zvemuviri mwana ane CHARGE syndrome angave akawedzera pane izvi zvinowanzoonekwa zviratidzo zvakanyorwa pamusoro apa. Izvi hazvisi zvakasiyana neVATER Syndrome , iyo inoshandura mutsara wayo kubatanidza kukanganiswa kwekuberekwa.
Maitiro Anoita Mwana Kuongororwa Ne CHARGE Syndrome
Kuongororwa kweCHARGE syndrome kunobva pachikamu chezviratidzo zvenyama uye maitiro anoratidzwa nemwana mumwe nomumwe. Zviratidzo zvitatu zvinonyanya kuzivikanwa ndezva 3 C's: Coloboma, Choanal atresia, uye maitiro asinganzwisisiki Makirini munzeve.
Kune zvimwe zviratidzo zvikuru, zvakadai sekuonekwa kusingaoneki kwenzeve, izvo zvinowanzoonekwa muCHARGE syndrome varwere asi zvisingasviki mune dzimwe mamiriro ezvinhu. Zvimwe zviratidzo, zvakadai sekuremara kwemwoyo, zvinogonawo kuitika kune dzimwe syndromes kana mamiriro ezvinhu, uye zvingadaro zvisingabatsiri pakutsigira kuongororwa.
Icheche inofungidzirwa kuti ine CHARGE syndrome inofanira kuongororwa nechiremba anonzi geneticist anoziva chirwere. Kuongorora zvirwere kunogona kuitika, asi kunodhura uye kunongowanikwa neimwe ma laboratori.
Maitiro ECHIKURU Syndrome Anoitwa
Vana vacheche vakaberekwa neCHARGE syndrome vane zvinetso zvakawanda zvezvehutano uye zvepanyama, zvimwe zvacho, zvakadai sekushaya mwoyo, zvinogona kutyisa upenyu. Mhando dzakawanda dzemhando dzakasiyana-siyana dzokurapa uye / kana kuti kurapwa kunogona kudiwa kuti uwane chirwere chakadaro.
Kurapa kwepanyama, basa, uye kutaura kunogona kubatsira mwana kusvika paanogona kubudirira. Vana vazhinji vane CHARGE syndrome vachada dzidzo yepamusoro nekuda kwekukura nekukurukurirana kunokonzerwa nekunzwa uye kurasikirwa kworatidzwa.
Unhu hwehupenyu hwevanhu vane CHARGE Syndrome
Sezvo zviratidzo zvacho chero munhu mumwe chete ane CHARGE syndrome zvingasiyana zvakanyanya, zvakaoma kutaura pamusoro pehupenyu hwakaita sei ivo "vanofananidzira" munhu ane chirwere. Chimwe chidzidzo chakatarisa vanhu vanopfuura 50 vairarama nechirwere chaiva pakati pemakore gumi nema13 ne39. Kazhinji, chiyero chepfungwa pakati pevanhu ava chaive pachikwata chechina chevadzidzi. Nyaya dzinowanzotarisana nemashure dzaibatanidza hutano hwetano, zvirwere zvekurara , maitiro ekudzorera , kufunganya, uye kushungurudzika. Zvinosuruvarisa, nyaya dzinonzwa dzinogona kukanganisa ukama neshamwari kunze kwemhuri, asi kurapa, kana kutaura, muviri, kana basa kunogona kubatsira zvikuru. Zvinobatsira mhuri uye neshamwari, kunyanya kuziva nyaya idzi dzekunzwa, sekunzwa kwezvinetso zvakakanganisa sekudzivirira kwesimbi kwemazana emakore.
Sources:
Hartshorne, N., Hudson, A., MacCuspie, J. et al. Unhu hweHupenyu Muhuduku uye Vakuru neCARGE Syndrome. American Journal of Medical Genetics. Chikamu A. 2016. 170 (8): 2012-21.
Hudson, A., Trider, C., naK. Blake. CHARGE Syndrome. Pediatrics in Review . 2017. 38 (1): 56-59.
Vesseur, A., Langereis, M., Free, R. et al. Kufurirwa kwekunzwa kurasikirwa uye kugona kwekwaniso pamatauriro ekuvandudza mutauro mu CHARGE Syndrome. American Journal of Medical Genetics. Chikamu A. 2016. 170 (8): 2022-30.
US National Library of Medicine. Genetics Home Reference. CHARGE Syndrome. Updated 01/03/17. https://ghr.nlm.nih.gov/condition/charge-syndrome#statistics