Ubukhulu be-DiGeorge Syndrome? Izimpawu, Izimbangela, & Ukwelashwa

I-DiGeorge syndrome iyisimo se-genetic esenzeka lapho izingxenye ezincane ze-chromosome 22 zingekho. Le ngxenye engapheliyo ithonya indlela izingxenye ezithile zomzimba wakho ezikhula ngaphambi kokuzalwa, ikakhulukazi isimiso sakho sokuvikela umzimba, inhliziyo, ne-parathyroid glands.

Cishe izingane ezi-1 ku-4,000 zizalwa naleli simo. Nakuba kungase kubonakale kukhulu ekuqaleni, abantu abaningi abane-DiGeorge syndrome baphila impilo egcwele, enempilo ngokunakekelwa komtholampilo okufanele nokwesekwa.

Iyini i-DiGeorge Syndrome?

I-DiGeorge syndrome ivela lapho umzimba wakho ungenayo ingxenye encane ye-genetic material ku-chromosome 22. Lokhu kususa kuthonya ukuthuthukiswa kwezinhlelo eziningi zomzimba ngesikhathi sokukhulelwa.

Lesi simo siyakwazi futhi njenge-22q11.2 deletion syndrome noma i-velocardiofacial syndrome. La magama ahlukene abhekisela kushintsho olufanayo lwe-genetic, nakuba odokotela bangase basebenzise amagama ahlukene kuye ngokuthi yiziphi izimpawu ezivelele kakhulu.

I-genetic material engapheliyo iqukethe imiyalo yokwenza amaprotheni asiza umzimba wakho ukuthi ukhule kahle. Uma le miyalo ingapheli, ingathinta i-thymus gland yakho, i-parathyroid glands, inhliziyo, nezici zobuso.

Ziyini izimpawu ze-DiGeorge Syndrome?

Izimpawu ze-DiGeorge syndrome zingase zihluke kakhulu kumuntu nomuntu. Abanye abantu banezimpawu ezilula ezingathinti kangako impilo yabo yansuku zonke, kanti abanye bangase babe nezidingo ezinkulu zokwelashwa.

Nazi izimpawu ezivamile ongaziqaphela:

• Ukutheleleka okuvamile ngenxa yezinkinga zesimiso sokuvikela umzimba
• Ukuhluleka kwenhliziyo okungase kubangele ubunzima bokuthola umoya noma ukondla okubi ezinsaneni
• Amazinga e-calcium aphansi abangela ukubamba kwemisipha noma ukuhlushwa
• I-cleft palate noma ezinye izinkinga zokudla
• Izici zobuso ezihlukile njengomqhele omncane noma amehlo amnyama
• Ukulibaziseka kokukhuluma noma ubunzima bokufunda
• Izinkinga zezinso
• Ukulahlekelwa ukuzwa

Izingane eziningi ezine-DiGeorge syndrome zihlushwa ukubambezeleka kokuthuthuka. Zingase zihambe noma zikhulume kamuva kunabanye abantwana, noma zidinga ukwesekwa okwengeziwe ngokufunda nangamakhono omphakathi.

Abanye abantu bathuthukisa izimo zempilo yengqondo njengokukhathazeka, ukucindezeleka, noma ubunzima bokuqaphela njengoba bekhula. Lezi zinselelo ziphatheka ngokusekelwa okufanele nokwelashwa.

Yini ebangela i-DiGeorge Syndrome?

I-DiGeorge syndrome ibangelwa yingxenye engapheliyo ye-chromosome 22. Lokhu kususa kwenzeka ngokungahleliwe ngesikhathi sokwenziwa kwamaseli okuzala noma ekuqaleni kakhulu kokukhulelwa.

Cishe ku-90% yezimo, lolu shintsho lwe-genetic lwenzeka ngokungahleliwe. Lokhu kusho ukuthi akukho umzali ophethe ukususa, futhi akuyona into ababengayivimba noma bayibikezele.

Kodwa-ke, cishe ku-10% yezimo, omunye umzali uphethe ukususa futhi angawudlulisela engane yakhe. Uma une-DiGeorge syndrome, kunethuba elilingana no-50% lokuba ungawudlulisela kuwo wonke umntwana wakho.

Ukususa akubangelwa yilutho abazali abalwenzayo ngesikhathi sokukhulelwa. Akuxhunyaniswanga nokudla, indlela yokuphila, imithi, noma izinto ezingqongile.

Nini okufanele ubona udokotela nge-DiGeorge Syndrome?

Kufanele uxhumane nodokotela wakho uma uqaphela izimpawu zokutheleleka okuvamile, ubunzima bokondla, noma ukubambezeleka kokuthuthuka engwaneni yakho. Ukuxilongwa kwasekuqaleni nokwelashwa kungenza umehluko omkhulu eziphumeleni.

Funani ukunakekelwa komtholampilo ngokushesha uma ingane yakho ihlushwa ukuhlushwa, izinkinga zokuphefumula ezinzima, noma izimpawu zokutheleleka okukhulu njengobushushu obukhulu noma ubunzima bokuthola umoya.

Uma ukhulelwe futhi une-DiGeorge syndrome wena uqobo, ukwelulekwa kwe-genetic kungakusiza ukuthi uqonde ingozi futhi uhlele ukunakekelwa kwengane yakho.

Ukuhlolwa okuvamile kubalulekile kunoma ubani one-DiGeorge syndrome, ngisho noma izimpawu zibonakala zilula. Izinkinga eziningi zingavimbeka noma ziphathwe kahle uma zitholakala ekuqaleni.

Ziyini izinto ezingozi ze-DiGeorge Syndrome?

Into eyingozi eyinhloko ye-DiGeorge syndrome ukuba nomzali ophethe i-22q11.2 deletion. Uma omunye umzali enalesi simo, ingane ngayinye inethuba elilingana no-50% lokulidla.

Ubudala obukhulu bomama buyakwandisa ingozi kancane, kodwa i-DiGeorge syndrome ingenzeka ekukhulelweni kunoma yiliphi iminyaka. Izimo eziningi zenzeka emindenini engenayo umlando wangaphambili walesi simo.

Ayikho indlela yokuphila noma izinto ezingqongile ezandisa ingozi yakho yokuba nengane ene-DiGeorge syndrome. Ukususa kwe-genetic kwenzeka ngokungahleliwe ezimweni eziningi.

Ziyini izinkinga ezingase zenzeke nge-DiGeorge Syndrome?

Ukuqonda izinkinga ezingase zenzeke kungakusiza wena neqembu lakho lokunakekelwa kwezempilo ukuthi niqaphele izinkinga futhi nizixazulule ngokushesha. Khumbula ukuthi akuwona wonke umuntu one-DiGeorge syndrome ozobhekana nazo zonke lezi zinkinga.

Izinkinga ezivamile zihlanganisa:

• Ukutheleleka okuphindaphindayo ngenxa yobunqamana besimiso sokuvikela umzimba
• Izinkinga zenhliziyo ezidinga ukuhlinzwa noma ukuqapha okuqhubekayo
• Amazinga e-calcium aphansi abangela ukuhlushwa noma izinkinga zemisipha
• Ukubambezeleka kokukhuluma nolimi
• Ubunzima bokufunda noma izinselele zengqondo
• Izinkinga zokuziphatha noma zempilo yengqondo

Izinkinga ezingavamile kodwa ezinzima kakhulu zingase zihlanganise:

• Ukwehluleka okukhulu kokuvimbela umzimba okudinga ukutshalwa kwe-bone marrow
• Ukuhluleka kwenhliziyo okubulalayo
• Izinkinga ezinzima zezinso
• Izifo ze-autoimmune lapho umzimba uhlasela izicubu zawo
• I-schizophrenia noma ezinye izimo ze-psychiatric ebudaleni

Ukuqapha okuvamile nokunakekelwa okuvimbelayo kungasiza ukubamba nokuphatha eziningi zalezi zinkinga ngaphambi kokuba zibe nzima. Iqembu lakho lokunakekelwa kwezempilo lizodala uhlelo lokunakekelwa oluqondene nezidingo zakho ezithile.

I-DiGeorge Syndrome ixilongwa kanjani?

I-DiGeorge syndrome ixilongwa ngokuhlolwa kwe-genetic okubukela ingxenye engapheliyo ye-chromosome 22. Lolu hlolo lungenziwa ngesampula legazi elula.

Udokotela wakho angase aqale ukuthi i-DiGeorge syndrome isekelwe ezimpawu zokubonakala njengokuhluleka kwenhliziyo, izici zobuso ezihlukile, noma ukutheleleka okuvamile. Bazobabuza futhi ngomlando wakho womndeni namabanga okuthuthuka.

Ukuhlolwa okwengeziwe kungase kuhlanganise umsebenzi wegazi ukuhlola amazinga e-calcium nokuqina kokuvimbela umzimba, isithombe senhliziyo ukubuka ukuhluleka, nokuhlolwa kokuzwa noma kwezinso kuye ngezimpawu zakho.

Ukuhlolwa kwe-genetic, okuthiwa yi-chromosomal microarray noma i-FISH testing, kungakuqinisekisa ukuxilongwa ngokuqondile okungu-100%. Imiphumela ivame ukuthatha izinsuku ezimbalwa kuya kwesonto.

Ukuphathwa kwe-DiGeorge Syndrome kuyini?

Ukuphathwa kwe-DiGeorge syndrome kugxile ekuphatheni izimpawu ezithile nokuvimbela izinkinga. Ayikho indlela yokwelapha isimo se-genetic ngokwaso, kodwa izimpawu eziningi zingaphathwa kahle.

Ukuphathwa okuvamile kuhlanganisa:

• I-calcium ne-vitamin D supplements yamazinga e-calcium aphansi
• Ama-antibiotics ukuvimbela ukutheleleka
• Ukuhlinzwa kwenhliziyo ngenxa yokuhluleka kwenhliziyo
• I-speech therapy ngenxa yokubambezeleka kokukhuluma
• Izinsizakalo zemfundo ekhethekile ngenxa yobunzima bokufunda
• Ukusekelwa kwempilo yengqondo ngenxa yezinselele zokuziphatha

Abanye abantu abanezingozi ezinkulu zokuvimbela umzimba bangase badinge ukwelashwa okukhulu njenge-immunoglobulin therapy noma, ezimweni ezingavamile, ukutshalwa kwe-thymus.

Iqembu lakho lokunakekelwa kwezempilo lizoba yibo abakhethekile njengabahlengikazi benhliziyo, i-immunologists, i-endocrinologists, nabachwepheshe bezingane ezikhulayo. Bazosebenzisana ndawonye ukudala uhlelo lokunakekelwa oluphelele oluqondene nezidingo zakho ezithile.

Indlela yokunakekela ekhaya ngesikhathi se-DiGeorge Syndrome?

Ukukhathalela ekhaya kugxile ekuvimbeleni ukutheleleka, ukusekela ukuthuthuka, nokugcina impilo enhle yonke. Imikhuba yansuku zonke elula ingenza umehluko omkhulu ezingeni lakho lokuphila.

Ukuvimbela ukutheleleka, sebenzisa ukuhlanza izandla okuhle futhi ugweme izindawo ezihlanganayo ngesikhathi sokuqhuma kwezifo. Gcina uqhubeka ne-vaccines ezinikeziwe, nakuba ezinye i-vaccines eziphilayo zingase zingafaneleki kuye ngokusebenza kokuvimbela umzimba wakho.

Sekela ukuthuthuka kokukhuluma nolimi ngokufunda ndawonye, ukucula izingoma, nokukhuthaza ingxoxo. Izinsizakalo zokungenelela kwasekuqaleni zingase zinikeze ukwesekwa okwengeziwe ekhaya.

Qapha izimpawu ze-calcium ephansi njengokubamba kwemisipha, ukugqolozela, noma ukuhlushwa. Thatha i-supplements ezinikeziwe ngokuqhubekayo futhi ugcine isikhathi sokudla okuvamile.

Dala indawo yokusekela yokufunda nokuthuthuka. Lokhu kungase kuhlanganise amashejuli ezithombe, imikhuba eqondile, nokwahlukanisa imisebenzi ezingxenyeni ezincane.

Kufanele ulungiselele kanjani i-aphoyintimenti yakho yodokotela?

Ngaphambi kwe-aphoyintimenti yakho, bhala zonke izimpawu ozibonile, kufaka phakathi ukuthi zaqala nini nokuthi zivele kangaki. Lokhu kusiza udokotela wakho ukuthi aqonde isithombe esiphelele.

Letha uhlu lwemithi yonke ne-supplements ozithathayo, kufaka phakathi imithamo nokuthi uyayithatha kangaki. Phawula futhi noma yiziphi izinto ozithola une-allergy noma izimpendulo emithini.

Lungiselela imibuzo mayelana nehlolo lakho lokunakekelwa, izimpawu okufanele uzilandele, nokuthi nini okufanele ufune ukunakekelwa komtholampilo ngokushesha. Unganqikazi ukubuza nganoma yini ekukhathazayo.

Uma ubona uchwepheshe omusha, letha amakhophi emiphumela yokuhlolwa yakamuva nesifinyezo somlando wakho wezokwelapha. Lokhu kubasiza ukuthi baqonde isimo sakho samanje ngokushesha.

Iyini into ebalulekile mayelana ne-DiGeorge Syndrome?

I-DiGeorge syndrome iyisimo se-genetic esiphatheka esithinta abantu ngezindlela ezahlukene. Ngokunakekelwa komtholampilo okufanele nokwesekwa, abantu abaningi abanesimo baphila impilo egcwele, ezuzisayo.

Ukuxilongwa kwasekuqaleni nokwelashwa kubalulekile ukuze kube khona imiphumela emihle. Ukuqapha okuvamile kusiza ukubamba nokuphatha izinkinga ngaphambi kokuba zibe yizinkinga ezinkulu.

Khumbula ukuthi ukuba ne-DiGeorge syndrome akuchazi wena noma ingane yakho. Nakuba kungase kube nezithiyo ezithile, futhi kuza namandla akhethekile nemibono ehlanganyela emndenini wakho nasemphakathini wakho.

Xhumana namaqembu wokusekela nezinsiza endaweni yakho. Ezinye imindeni ehlushwa yi-DiGeorge syndrome zingakunikeza ulwazi oluyigugu, ukukhuthazwa, nezeluleko eziwusizo.

Imibuzo evamile ebuzwa mayelana ne-DiGeorge Syndrome

Ingabe i-DiGeorge syndrome ilidwa?

Cishe ku-90% yezimo ze-DiGeorge syndrome zenzeka ngokungahleliwe, okusho ukuthi akukho umzali ophethe ukususa kwe-genetic. Kodwa-ke, ku-10% yezimo, kungadliwa kumzali ophethe lesi simo. Uma une-DiGeorge syndrome, kunethuba elilingana no-50% lokudlulisela kumntwana ngayinye.

Ingabe i-DiGeorge syndrome ingatholakala ngesikhathi sokukhulelwa?

Yebo, i-DiGeorge syndrome ngezinye izikhathi ingatholakala ngesikhathi sokukhulelwa ngokuhlolwa kwe-genetic njenge-amniocentesis noma i-chorionic villus sampling. I-ultrasound ingase futhi iveze ukuhluleka kwenhliziyo noma ezinye izici eziphakamisa lesi simo. Kodwa-ke, akuzona zonke izimo ezitholakala ngaphambi kokuzalwa.

Ubude bomphila bubunjani komuntu one-DiGeorge syndrome?

Ubude bomphila buyahluka kakhulu kuye ngokubunzima bezimpawu, ikakhulukazi ukuhluleka kwenhliziyo nezinkinga zokuvimbela umzimba. Abantu abaningi abanezimpawu ezilula banobudala bomphila obujwayelekile, kanti labo abanezinkinga ezinkulu bangase babhekane nezinselele eziningi. Ukuxilongwa kwasekuqaleni nokunakekelwa komtholampilo okuphelele kuyaqondisa imiphumela.

Ingane yami ene-DiGeorge syndrome iyokwazi yini ukuya esikoleni esivamile?

Izingane eziningi ezine-DiGeorge syndrome zingaya esikoleni esivamile ngezinsizakalo zokusekela ezifanele. Abanye bangase badinge izinsizakalo zemfundo ekhethekile noma ukulungiswa kwezinto ezihlukile. Okubalulekile ukusebenzisana nesifunda sakho sesikole ukwenza uhlelo lokuqeqeshwa oluqondene nezidingo zengane yakho ezithile.

Ingabe i-DiGeorge syndrome ingaba sibi ngokuhamba kwesikhathi?

I-DiGeorge syndrome ngokwayo ayibi kakhulu, kodwa ezinye izinkinga zingase zithuthuke noma zishintshe ngokuhamba kwesikhathi. Ngokwesibonelo, izinkinga zempilo yengqondo zingase zivele ebusheni noma ebudaleni. Ukuqapha komtholampilo okuvamile kusiza ukubona nokuxazulula izinselele ezintsha njengoba zivele. Izimpawu eziningi ziyathuthuka ngempela ngokwelashwa okufanele nokwesekwa.