Indlela yokwenza ingqiqo yesi sifo sonyango esiyinkimbinkimbi
Ngowe-1981, igama elithi CHARGE lenziwe ukuba lichaze amaqela okukhubazeka okuzalwayo aye aqondwa kubantwana. INKQUBO imele:
- Coloboma (iliso)
- Iintsilelo zeentliziyo zaluphi na uhlobo
- Atresia (ikhetho)
- Ukulinda (ukukhula kunye / okanye uphuhliso)
- Uhlobo lwentlungu
- Iphutha leNtloko
Kwacetyiswa ukuba ukuxilongwa kwe-syndrome kusekelwe ebukhompini kwezinto ezine eziphathekayo.
Ukususela ngoko, oogqirha baqaphele ukuba le nkcazo kunye nokulawula ukuxilongwa akuqwalasele ezinye iimpawu zesimo se-CHARGE syndrome, okanye ukuba abanye abantwana abane-syndrome abazange bahlangabezane neendlela zokuxilonga.
I-Genetics ye-CHARGE Syndrome
I-gene edibene ne-CHARGE syndrome iye yachongwa kwi-chromosome 8 kwaye ibandakanya ukuguqulwa kwemfuza ye-CHD7 (i-CHD7 i-gene iyona kuphela i-gene evelelwa ukuba ibandakanyekile nesifo.) Nangona ngoku kuyaziwa ukuba i-CHARGE syndrome yinkinga yesifo esiyinkimbinkimbi kubangelwe i-defect defect, igama alizange litshintshe. Nangona i-CHD7 iinguqu zezinto ezifuywayo zizuze ifa le- autosomal , iimeko ezininzi zivela ekutshintshisweni olutsha kwaye umntwana usuye yedwa umntwana kwintsapho ene-syndrome.
Isiganeko se-CHARGE Syndrome
I-CHARGE syndrome iyenzeka malunga ne-1 kuma-8 500 ukuya ku-10 000 azalwa emhlabeni wonke.
Iimpawu ze-CHARGE Syndrome
Iimpawu zomzimba zengane ene-CHARGE syndrome eziqhelekileyo ezisondeleyo eziqhelekileyo. Umntwana ngamnye ozelwe ngesifo unokuba neengxaki ezahlukeneyo zomzimba kunye nezinye iinkalo eziqhelekileyo okanye iimpembelelo zokuzalwa zi:
C- Coloboma yeYiso:
- Esi sifo sichaphazela malunga nama-80 ukuya kuma-90 ekhulwini abantu abaxilongwa nge-CHARGE syndrome
- I-coloboma iququze (i-crack) idla ngokuphindaphindiweyo kwiso
- Enye okanye zombini amehlo angaba ncinane kakhulu (i-microphthalmos) okanye ayikho (i-anophthalmos)
I-C ingabhekisela kwi-Cranial Nerve Inormality:
- Amaphesenti angama-90 ukuya kuma-100 abantu abane-CHARGE syndrome bancipha okanye balahlekelwa ngokupheleleyo ngenxa yokuvumba (i-anosmia)
- Abantu abangama-70 ukuya kuma-80 ekhulwini banzima ukugwinya.
- Ukukhubazeka ebusweni komnye okanye kumacala omabini kuvela kuma-50 ukuya kuma-90 ekhulwini labantu abane-syndrome
H- Intliziyo Eyingqibelelo:
- Iipesenti ezingama-75 zabantu zichaphazelekayo ngeentlobo ezahlukeneyo zeentliziyo ezingalunganga
- Inkohlakalo yesimo senhliziyo esivamekileyo yintsipho entliziyweni ( i-septal defect defect )
A- Atresia yeChoanae:
- I-atresia ibhekisela ekungabikho kokungqinelana kwesahluko emzimbeni. Kubantu abane-CHARGE syndrome, emva kwesono se-nasal kumnye okanye kumacala amabini kuncitshiswe (stenosis) okanye ayinxulumene nomva we-throat (atresia)
- Le nteresi ikhona kuma-35 ukuya kuma-65 ekhulwini abantu abane-CHARGE syndrome
I-R- Retardation (Ingqondo kunye noKhula)
- Iipesenti ezingama-70 zabantu abathintekayo yi-CHARGE ziye zinciphisa ii-IQ ezingaba zivela kwiimeko eziqhelekileyo ukuya kwinqanaba lokugula kwengqondo
- Ama-80 ekhulwini abantu abachaphazelekayo ngokukhawuleza ukukhula, kwaye ukukhulelwa kokukhula kudlalwa kwiinyanga ezintandathu zokuqala xa umntwana engaphumeleli ukukhula ngokuqhelekileyo
- Ukulahlwa kokukhula kubangelwa ukusilela kwe-hormone yokukhula kunye / okanye ubunzima bokutya (ukukhula komntwana kufana nokufumana emva kokusana)
UG- Genital Development
- Izitho zangasese ezingapheliyo zizibonakaliso ze-CHARGE syndrome kubantu besilisa, kodwa kungekhona kakhulu kubafazi
- Amaphesenti angama-80 ukuya kuma-90 amadoda athathwe ngumzimba ongaphantsi kophuhliso, kodwa kuphela ama-15 kuya kuma-25 ekhulwini amabhinqa abane-syndrome achaphazelekayo
Iintlobo ezingekhoyo:
- Indlebe engaqhelekanga ichaphazela ama-95 ukuya kuma-100 ekhulwini abantu banokukhubazeka kwendlebe yangaphandle engabonakaliswa
- Amaphesenti angama-60 ukuya kuma-90 abantu aba neengxaki kwiindlebe zangaphakathi, ezinjengeengqungquthela ezingavumelekanga zemitha okanye iziphene zentliziyo ezingabangela ukungazithulu
Zininzi ezinye iingxaki zomzimba umntwana one-CHARGE syndrome enokungeniswa kwezi zifo eziqhelekileyo ezibhalwe ngasentla. Oku akufani ne- VATER Syndrome , eyona ishintsha utshintsho sayo ukuba ifake ezinye iziphene zokuzalwa.
Indlela umntwana afunyaniswa ngayo ne-CHARGE Syndrome
Ukuxilongwa kwe-CHARGE syndrome kusekelwe kwiqoqo leempawu zomzimba kunye neempawu eziboniswe ngumntwana ngamnye. Iimpawu ezintathu ezichazayo kakhulu ziyi-3 C: I-Coloboma, i-Choreal atresia, kunye nee-Canal eziqhelekanga ezingavamile kwiindlebe.
Kukho ezinye iimpawu eziphambili, ezifana nokubonakala okungavumelekanga kweendlebe, eziqhelekileyo kwizigulane ze-CHARGE ze-syndrome kodwa ezingekho phantsi kwezinye iimeko. Ezinye iimpawu, ezifana nesiphene senhliziyo, zinokuthi zenzeke kwezinye iil syromromes okanye iimeko, kwaye ngoko ke kunokuba luncedo kuncinci ekuqinisekiseni ukuxilongwa.
Isana esityholwe ukuba nesifo se-CHARGE sifanele sihlolwe ngumhlaza wezonyango owaziyo nesifo. Uvavanyo lwe-Genetic luyakwenziwa , kodwa lubiza kwaye luyenziwa kuphela ngama-laboratories athile.
I-CHARGE Syndrome iphathwa njani
Iintsana ezizalwe nge-CHARGE syndrome zineengxaki ezininzi zezokwelapha nezomzimba, ezinye zazo, ezifana nesiphene sentliziyo, zingasongela ubomi. Zininzi iintlobo ezahlukeneyo zonyango kunye / okanye unyango oluphambili olufunekayo ukunyanga eso siphene.
Ulwaphulo olusisigxina, usebenze, nolulululwazi lunokunceda umntwana afikelele ekuphuculeni kwakhe. Uninzi lwabantwana abane-CHARGE syndrome luya kufuna imfundo ekhethekileyo ngenxa yokuphuculwa kwentsebenziswano kunye nokubambezeleka kokubambisana okubangelwa kukuva kunye nokulahleka kombono.
Umgangatho wobomi kubantu abane-CHARGE Syndrome
Ekubeni iimpawu zantoni na umntu onesifo se-CHARGE sichaphazela, kunzima ukuthetha malunga nokuba ubomi bufana nobani "obunjalo" nomntu ogulayo. Olunye uphando lukhangele abantu abangaphezu kwama-50 abaphila nesifo abaphakathi kweminyaka eyi-13 nangama-39. Ngokubanzi, izinga lokufunda phakathi kwaba bantu lalingenqanaba lesi-4 lemfundo. Imiba ejongene neyona nto ijongene nayo yayibandakanya imiba yempilo yeethambo, i- apnea yokulala , i- retinal detache , ixhala kunye nobudlova. Ngelishwa, imiba enengqondo inokuphazamisana nobudlelwane nabangaphandle kwintsapho, kodwa unyango, nokuba intetho, umzimba, okanye umsebenzi ungasinceda kakhulu. Kunceda intsapho kunye nabahlobo, ngokukodwa ukuba baqonde le micimbi yeengqondo, njengoko iingxaki zokuvalelwa ziphosakele njengezithintelo zentsimbi ngeenkulungwane.
Imithombo:
Hartshorne, N., Hudson, A., MacCuspie, J. et al. Umgangatho woBomi kwi-Adolescents kunye nabantu abadala abane-CHARGE Syndrome. I-American Journal ye-Medical Genetics. Icandelo A. 2016. 170 (8): 2012-21.
Hudson, A., Trider, C., noK. Blake. INTSHOLONGWANE YEZIMPILO. Iingcali ekuhlaziyweni . 2017. 38 (1): 56-59.
Vesseur, A., Langereis, M., Free, R. et al. Impembelelo yokuLawula ukulahleka kunye nobuchule bokuCacnitive kwiPhuhliso loLwimi kwi-CHARGE Syndrome. I-American Journal ye-Medical Genetics. Icandelo A. 2016. 170 (8): 2022-30.
ILayibrari yeSizwe ka-US yamayeza. I-Reference Reference Home. INTSHOLONGWANE YEZIMPILO. Ukuhlaziywa 01/03/17. https://ghr.nlm.nih.gov/condition/charge-syndrome#statistics