Indlela yokuqonda lesi sifo esiyinkimbinkimbi yezokwelapha
Ngo-1981, igama elithi CHARGE ladalwa ukuchaza amaqoqo okukhubazeka okuzalwa okuye kwabonakala kubantwana. I-CHARGE imele:
- I-Coloboma (iso)
- Ukukhubazeka kwenhliziyo kwanoma yiluphi uhlobo
- I-Atresia (i-choanal)
- Ukulinda (kokukhula kanye / noma ukuthuthukiswa)
- I-genital anomaly
- I-ear anomaly
Kunconywa ukuthi ukuxilongwa kwe-syndrome kuncike ekuboneni kwezinto ezine ezibonakalayo.
Kusukela ngaleso sikhathi, odokotela baye baqaphela ukuthi le ncazelo kanye nokubusa kokuxilongwa akucabangi ezinye izici eziningi zomzimba we-CHARGE syndrome, noma ukuthi ezinye izingane ezine-syndrome azizange zihlangabezane nemigomo yokuxilongwa.
I-Genetics ye-CHARGE Syndrome
Isakhi sofuzo esihambisana ne-CHARGE syndrome sitholakale ku-chromosome 8 futhi sihilela ukuguqulwa kwesakhi se-CHD7 (isakhi se-CHD7 yisona kuphela isakhi esizizwayo ukuthi sihilelekile nesifo.) Nakuba sekuyaziwa manje ukuthi i-CHARGE syndrome iyinkimbinkimbi yezokwelapha okubangelwa ukukhubazeka kwezakhi zofuzo, igama alizange lishintshe. Yize i-CHD7 iguqula izakhi zofuzo izuzwe njengefa elihle kakhulu , iningi lamacala avela ekuguqulweni okusha futhi usana luvame ukuphela kwengane emndenini one-syndrome.
Isimo se-CHARGE Syndrome
I-CHARGE syndrome kwenzeka cishe ku-1 ku-8 500 kuya ku-10 000 ukuzalwa emhlabeni wonke.
Izimpawu ze-CHARGE Syndrome
Izimfanelo ezingokomzimba zengane enezinkinga zesifo se-CHARGE ezivela esivamile kuya ezinzima. Ingane ngayinye ezalwa ene-syndrome ingase ibe nezinkinga ezehlukene zomzimba kanye nezinye izici ezivame kakhulu noma ukukhubazeka kokuzalwa yizi:
C- Coloboma of the Eye:
- Lesi sifo sithinta amaphesenti angu-80 kuya kwangu-90 abantu abathintekayo abane-CHARGE syndrome
- I-coloboma iqukethe i-fissure (crack) ngokuvamile emhlane
- Enye noma kokubili amehlo angase abe mncane kakhulu (i-microphthalmos) noma engekho (i-anophthalmos)
C ingabuye ibhekisele ku-Cranial Nerve Abnormality:
- Abantu abangamaphesenti angama-90 kuya kwangu-100 abane-CHARGE syndrome banciphisa noma balahlekelwa ukuzwa iphunga (ismia)
- Abantu abangama-70 kuya kwangu-80 banenkinga yokugwinya.
- Ukukhubazeka ebusweni komunye oyedwa noma zombili izinhlangothi kwenzeka kumaphesenti angu-50 kuya kwangu-90 abantu abane-syndrome
H- Inkohliso Yenhliziyo:
- Amaphesenti angu-75 abantu abathintekayo ngezinhlobo ezahlukene zokukhubazeka kwenhliziyo
- Ukukhubazeka kwenhliziyo kaningi kungumgodi enhliziyweni ( inrial septal defect )
A- Atresia ye-Choanae:
- I-atresia ibhekisela ekungabikho kwemigqa emzimbeni. Kubantu abane-CHARGE syndrome, ngemuva kwesono esiswini komunye oyedwa noma zombili izinhlangothi kuncipha (stenosis) noma akuxhumeki ngemuva komphimbo (atresia)
- Le-atresia ikhona ngamaphesenti angu-35 kuya kwangu-65 abantu abane-CHARGE syndrome
Ukubuyiselwa kwe- R- (Ingqondo Nokukhula)
- Amaphesenti angu-70 abantu abathintekayo yi-CHARGE banciphise ama-IQ angase avela ekuvame ukuvuthwa kwengqondo
- Amaphesenti angu-80 abantu abathintekayo ukuphuza ukukhula, futhi ukuphuza ukukhula okuvame ukutholakala ezinyangeni zokuqala eziyisithupha zokuphila lapho usana luhluleka ukukhula ngokujwayelekile
- Ukuphuza ukukhulelwa kubangelwa ukukhubazeka kwe-hormone kanye / noma ukuncelisa ubunzima (ukukhula kwengane kuvele kubambe ngemuva kokusana)
I-G- Ukuthuthukiswa Kwangaphakathi:
- Izitho zangasese ezingahlambuluki ziwuphawu lokutshela i-CHARGE syndrome kubantu besilisa, kodwa hhayi kakhulu kwabesifazane
- Amaphesenti angama-80 kuya kwangu-90 abesilisa abathintekayo ngenxa yokuthuthukiswa komzimba, kodwa kuphela amaphesenti angu-15 kuya kwangu-25 abesifazane abathintekayo
Okungajwayelekile kwe-Ekhaya:
- Ukungajwayelekile kwezindlebe kuthinte amaphesenti angu-95 kuya kwangu-100 abantu abanokukhubazeka kwendlebe yangaphandle engabonwa
- Amaphesenti angama-60 kuya kwangu-90 abantu abhekene nezinkinga ezindlebeni zangaphakathi, njengezikhukhula ezingavamile ezingamabhomu noma izifo ezingenalutho ezingaholela ekutheni
Kunezinye izinkinga eziningi ezingokomzimba ingane ene-CHARGE syndrome okungenzeka ibe ngaphezu kwalezi zimpawu ezivamile ezibalulwe ngenhla. Lokhu akufani neze ne- VATER Syndrome , eyashintsha isichazamazwi sayo ukuze ihlanganise nokunye ukukhubazeka kokuzalwa.
Indlela Ingane Ebhekene Ngayo Ne-CHARGE Syndrome
Ukuxilongwa kwe-CHARGE syndrome kusekelwe eqoqweni lezimpawu zomzimba kanye nezimfanelo eziboniswe ingane ngayinye. Izimpawu ezintathu ezitshela kakhulu ziyi-3 C: I-Coloboma, i-Choanal atresia, nama-Canals ajwayelekile angenawo ezindlebeni.
Kunezinye izimpawu ezinkulu, njengokubonakala okungavamile kwezindlebe, ezivame kwiziguli ze-CHARGE syndrome kodwa ezingavamile kwezinye izimo. Ezinye izimpawu, ezifana nesici senhliziyo, zingase zenzeke nakwezinye izimo noma izimo, ngakho-ke kungase kungabi usizo kakhulu ekuqinisekiseni ukuxilongwa.
Usana olusolakala ukuthi lunesifo se-CHARGE kufanele luhlolwe yi-geneticist yezokwelapha ojwayele isifo. Ukuvivinya izidakamizwa kungenziwa, kodwa kubiza futhi kwenziwa kuphela ngama laboratories athile.
Ukuthi I-CHARGE Syndrome iphathwa kanjani
Izinsana ezizalwe nge-CHARGE syndrome zinenkinga eminingi yezokwelapha nezomzimba, ezinye zazo, ezinjengenhliziyo enesici, zingase zisongele ukuphila. Kunezinhlobo ezahlukene zezokwelapha kanye / noma zokwelashwa ezingadingeka ukuphatha ukukhubazeka okunjalo.
Ukwelapha ngokomzimba, emsebenzini, nokukhuluma kungasiza ingane ukuba ifinyelele ekuthuthukiseni kwayo. Iningi lezingane ezine-CHARGE syndrome lizodinga imfundo ekhethekile ngenxa yokuphuza ukukhula nokuxhumana okubangelwa ukuzwa nokulahleka kombono.
Ikhwalithi Yokuphila Kubantu abane-CHARGE Syndrome
Njengoba izimpawu noma yikuphi umuntu oyedwa one-CHARGE syndrome angashintsha kakhulu, kunzima ukukhuluma ngokuthi impilo ifana kanjani nokuthi iyaphi "umuntu ojwayelekile" one-syndrome. Ucwaningo olulodwa lubheke abantu abangaphezu kuka-50 abaphila nesifo abaphakathi kweminyaka engu-13 no-39. Uwonke jikelele, izinga lobuhlakani phakathi kwalaba bantu lisezingeni lesine lebanga lezemfundo. Izinkinga ezivame ukubhekana nazo zazibandakanya izinkinga zezempilo zethambo, i- apnea yokulala , amasosha okutheni , ukukhathazeka nokuhlukunyezwa. Ngeshwa, izinkinga ezithinta izinkinga zingaphazamisa ubuhlobo nabangane ngaphandle komndeni, kodwa ukwelapha, kungakhathaliseki ukuthi inkulumo, umzimba, noma umsebenzi ungasiza kakhulu. Kuwusizo emndenini nabangane, ikakhulukazi ukuqaphela lezi zinkinga, njengoba izinkinga zokuzwa ziye zaphutha njengokwehla kwensimbi emakhulwini eminyaka.
Imithombo:
UHartshorne, uN., Hudson, A., MacCuspie, J. et al. Ikhwalithi Yokuphila Kubantwana Abasha kanye Nabantu abadala abane-CHARGE Syndrome. I-American Journal of Medical Genetics. Ingxenye A. 2016. 170 (8): 2012-21.
Hudson, A., Trider, C., noK. Blake. I-CHARGE Syndrome. Izingane ezibuyiselwe ekubuyekezweni . 2017. 38 (1): 56-59.
Vesseur, A., Langereis, M., Free, R. et al. Ithonya Lokuzwa Ukulahlekelwa kanye Namakhono Okucabangela Ekuthuthukiseni Ulimi ku-CHARGE Syndrome. I-American Journal of Medical Genetics. Ingxenye A. 2016. 170 (8): 2022-30.
Ilabhulali Kazwelonke Yezokwelapha yase-US. I-Genetics Home Reference. I-CHARGE Syndrome. Kubuyekezwe 01/03/17. https://ghr.nlm.nih.gov/condition/charge-syndrome#statistics