Iyini i-Turner Syndrome? Izimpawu, Izimbangela, Nokwelapha

I-Turner syndrome iyimo lemfundo elimelela abesifazane kuphela, elivela lapho olunye lwe-chromosome ze-X lulahlekile ngokuphelele noma ngokuyinselele. Lokhu kuhluka kwe-chromosome kwenzeka cishe kwabesifazane abangu-1 ku-2,000 kuya ku-2,500 abazalwayo, okwenza kube yinto engaqondakali kodwa ingelona icala elikhulu.

Leli dimo liqeda izici ezahlukene zokukhula nokuphulukela kokuphila komuntu. Nakuba i-Turner syndrome iphakamisa izinselele ezihlukile, abesifazane abaningi abaneli dimo baphila impilo egcwele, enempilo, neyeqile ngokunakekelwa komnyango wezokwelapha nokwesekwa okufanele.

Iyini i-Turner syndrome?

I-Turner syndrome ivela lapho owesifazane ezalwa enolonye i-chromosome le-X eliphelele esikhundleni se-chromosome ezimbili ze-X ezivamile. Ngezinye izikhathi, ingxenye yesibili ye-chromosome le-X ingalahleka noma iguqulwe ngezindlela ezahlukene.

Ama-chromosome akho athatha imiyalo ye-genetic eqinisekisa ukuthi umzimba wakho ukhula futhi usebenza kanjani. Njengoba abesifazane bavame ukuba nama-chromosome amabili e-X (XX), ukuba ne-chromosome elilodwa le-X kuphela kuqeda ukukhula okuvamile ngezindlela ezithile. Izinto ezilahlekile ze-genetic ziqeda ikakhulukazi ukukhula, ukuqala kwesikhathi sokuqala, kanye nezinhlelo ezithile zomzimba.

Leli dimo likhona kusukela ekuzalweni, nakuba lingase lingabonakali kuze kube kamuva ebuntwaneni noma ngisho nasebudaleni. Ubukhulu bezimpawu zingahluka kakhulu kumuntu nomuntu, kuye ngokuthi kungakanani izinto ze-genetic ezilahlekile kanye namangqamuzana athintekile.

Ziyini izimpawu ze-Turner syndrome?

Izimpawu ze-Turner syndrome zingabonakala ezigabeni ezahlukene zokuphila, futhi akuwona wonke umuntu ophila nazo zonke izimpawu ezingase zibe khona. Izibonakaliso zivame ukuba zibonakala ngokucacile ngesikhathi sobuntwana nasesikhathini sokuqala kwesikhathi sokuqala lapho ukukhula nokuhlukahluka kokukhula kuqala ukubonakala.

Phakathi nobuntwana nokuqala kwesikhathi sobuntwana, ungase uqaphele:

• Ukuhamba kancane kokukhula uma kuqhathaniswa nabantwana abanye
• Ukukhula kwezandla nezinyawo (i-lymphedema)
• Isifuba esibanzi ngamabele ahlukanisiwe kakhulu
• Uboya oluphansi emuva komhlane
• Intamo emfushane, ehlanganisiwe
• Ukuhluleka kwenhliziyo noma ukungasebenzi kahle kwizinkampani
• Ukutheleleka kwemilenze njalo noma izinkinga zokuzwa

Njengoba abantwana abane-Turner syndrome bekhula, ezinye izimpawu zingase zivele. Lezi zivame ukufaka ukukhula okufushane, ubunzima bokufunda ngezibalo nezimiso zezindawo, kanye nezinselele zokuxhumana emphakathini ekufundeni izibonakaliso ezingabonakali.

Phakathi neminyaka yobusha, isiphawuli esibonakalayo kakhulu sivame ukuba yokulibaziseka noma ukungabikho kokutholakala kwesikhathi sokuqala. Abanye amantombazane ane-Turner syndrome awathuthuki izici zokuthuthuka kwesondo njengokukhula kwamabele noma ukuqala kwesikhathi sokuqala ngaphandle kokwelashwa kwe-hormone. Lokhu kwenzeka ngoba ama-ovari abo awasebenzi kahle.

Ezinye izimpawu ezingavamile zingafaka ukwehla kwamaphethilolo, umhlathi ophansi oncane, noma izici zobuso ezihlukile. Noma kunjalo, abantu abaningi abane-Turner syndrome banokubonakala kobuso okuvamile ngokuphelele.

Ziyini izinhlobo ze-Turner syndrome?

I-Turner syndrome inezinhlobo eziningana ezahlukene ngokusekelwe esimweni esithile se-chromosome esikhona emangqamuzaneni omzimba womuntu. Uhlobo lungathinta izimpawu umuntu azibonayo nokuthi zingaba yini ubukhulu bazo.

Uhlobo oluvamile kakhulu lubizwa ngokuthi yi-Turner syndrome yendabuko noma i-monosomy X. Kulolu hlobo, wonke amaseli emzimbeni ana-chromosome elilodwa le-X esikhundleni sezibili. Lokhu kuvame ukubangela izimpawu ezibonakalayo kakhulu futhi kuqeda cishe abantu abangu-45% abane-Turner syndrome.

I-Turner syndrome ye-mosaic ivela lapho amanye amaseli enolonye i-chromosome le-X kanti amanye anama-chromosome amabili e-X noma ezinye izinguquko. Abantu abane-Turner syndrome ye-mosaic bavame ukuba nezimpawu ezilula ngoba amanye amaseli abo asebenza kahle. Lokhu kuqeda cishe abantu abangu-15-25%.

Ezinye izinhlobo ezingavamile zihlanganisa ukususwa okungaphelele noma ukuguqulwa kwesakhiwo kwelinye i-chromosome le-X. Lezi zinguquko zingabangela ukuxubana okuhlukene kwezimpawu, futhi abanye abantu bangase babe nezibonakaliso ezilula kakhulu ezingabonakali iminyaka eminingi.

Yini ebangela i-Turner syndrome?

I-Turner syndrome ibangelwa iphutha elizenzakalelayo ngesikhathi sokwenziwa kwamaseli okukhiqiza noma ekuqaleni kokukhula kwembryo. Lokhu kuguqulwa kwe-chromosome kwenzeka ngengozi futhi akubangelwa yilutho abazali abalwenzile noma abangazange balwenze.

Iphutha lingase libe khona ngezindlela eziningana. Ngezinye izikhathi, i-egg noma i-sperm cell iyenza ngaphandle kwe-chromosome le-X, noma i-chromosome le-X ilahlekile ezigabeni zokuqala ngemuva kokutholakala. Emacaleni e-mosaic, ukulahleka kwe-chromosome kwenzeka kamuva ngesikhathi sokukhula kwembryo, kuqeda amanye amaseli kuphela.

Leli dimo aliliwe ukudluliselwa kubazali ngendlela evamile. Yilokho odokotela abakubiza ngokuthi "de novo" noma ukuguqulwa okusha okuvela ngokuzithandela. Abazali abana-Turner syndrome abathintekile abangaseli engozini enkulu yokuba nomntwana omunye oneli dimo.

Ubudala obukhulu bomama abukhulisi ingozi ye-Turner syndrome, ngokungafani nezinye izimo ze-chromosome. Leli dimo lingase libe khona ekuthwaleni kwengane kunoma yiliphi iminyaka yomzali, nakuba kufanele kuqaphele ukuthi ukuthwalwa kwengane okuningi okune-Turner syndrome kuphela ngokuphulukisa.

Nini okufanele ubona udokotela nge-Turner syndrome?

Kufanele ubone udokotela uma uqaphela izibonakaliso ezingase ziphakamise i-Turner syndrome, ikakhulukazi ukulibaziseka kokukhula noma ukuhlukahluka kokukhula. Ukuxilongwa kwangaphambili kungasiza ekuqinisekiseni ukulandelela komnyango wezokwelapha nokuphathwa okufanele.

Phakathi nobuntwana, cabanga ukubona udokotela uma indodakazi yakho imfushane kakhulu kunabangane bayo, inezifo zemilenze njalo, noma ibonisa izici zomzimba ezingavamile njengentamo ehlanganisiwe noma ukukhula kwezandla nezinyawo. Ubunzima bokufunda, ikakhulukazi ngezibalo, kungase futhi kube yisibonakaliso sokuqala.

Kubantu abasha, ukulibaziseka kokutholakala kwesikhathi sokuqala kuvame ukuba yisibonakaliso esicacile sokuqala esikhuthaza ukuxilongwa komnyango wezokwelapha. Uma intombazane ingaqalanga ukukhula kwamabele noma ukuqala kwesikhathi sokuqala ngeminyaka engu-13-14, kubalulekile ukufuna iseluleko somnyango wezokwelapha.

Abantu abadala abacabanga ukuthi bangase babe ne-Turner syndrome engabonakali kufanele babone udokotela, ikakhulukazi uma benokukhula okufushane, izinkinga zokungakhulelwa, noma izinkinga ezithile zempilo njengokungasebenzi kahle kwenhliziyo noma izinkampani. Abanye abantu bathola ukuxilongwa kwabo kokuqala ebudaleni lapho bephenya izinkinga zokuzala.

Ziyini izici ezingozi ze-Turner syndrome?

I-Turner syndrome ivela ngokungahleliwe futhi ayinazo izici ezingozi ezivamile njengezinye izimo eziningi zezokwelapha. Iphutha le-chromosome elibangela i-Turner syndrome liyenzeka ngengozi ngesikhathi sokuhlukaniswa kwamaseli.

Ngokungafani nezinye izimo ze-genetic, i-Turner syndrome ayihlotshaniswa nobudala obukhulu bomama noma bobaba. Abesifazane kunoma yiliphi iminyaka bangaba nomntwana one-Turner syndrome, futhi ingozi ihlala ihlala ifanayo kuwo wonke ama-reproductive ages.

Umbukiso womndeni awukhulisi ingozi ye-Turner syndrome. Njengoba ingadluliselwa ngendlela evamile, ukuba nelungu lomndeni eline-Turner syndrome akwenzi kube lula kulawo malungu omndeni ukuba abe naleli dimo.

Isici esiqinile kuphela yisondo le-biological, njengoba i-Turner syndrome iqeda kuphela abantu abangabesifazane ngokwe-genetic. Noma kunjalo, lokhu akuyona "ingozi" ngendlela evamile, njengoba kuyisigaba nje sendlela leli dimo elichazwa ngayo.

Ziyini izinhlanganisela ezingase zibe khona ze-Turner syndrome?

I-Turner syndrome ingabangela izinhlanganisela ezahlukene zempilo ezingase zivele ngokuhamba kwesikhathi, nakuba akuwona wonke umuntu ophila nalezi zinkinga. Ukuqonda lezi zinhlanganisela ezingase zibe khona kusiza ekuqinisekiseni ukulandelela okufanele nokuphathwa kwangaphambili uma kudingeka.

Izinkinga zenhliziyo zihlanganiswe izinhlanganisela ezinkulu kakhulu futhi zingafaka:

• Ukuhlukaniswa kwe-aorta (ukuhlukaniswa komthambo omkhulu)
• I-bicuspid aortic valve (i-valve yenhliziyo enama-flaps amabili esikhundleni sezintathu)
• Uxinzelelo lwegazi oluphakeme
• Ukukhula komsuka we-aorta

Lezi zimo zenhliziyo zidinga ukulandelela njalo kokuphila, njengoba ezinye zingadinga ukusebenza noma ukuphathwa komnyango wezokwelapha okuqhubekayo.

Ukungasebenzi kahle kwezinkampani kanye nezinhlanzi zokukhishwa komchamo kuvela cishe kwesithathu sabantu abane-Turner syndrome. Lezi zingafaka ukwahlukahluka kwesakhiwo esimweni noma isikhundla sezinkampani, noma izinkinga zendlela umchamo ukhishwa ngayo ezinkampani. Izinkinga eziningi zezinkampani azibangeli izimpawu kodwa zidinga ukulandelela.

Izinkinga zempilo yamathambo zivame ukukhula, kufaka phakathi i-osteoporosis (amathambo abuthakathaka) kanye nengozi enkulu yokugqwala. Lokhu kwenzeka ngenxa yokuntuleka kwe-estrogen futhi kudinga ukunakekelwa kokudla i-calcium kanye nokuzivocavoca okusekelwe ekuthwaleni.

Izinhlanganisela ezingavamile kodwa ezinzima zingafaka izinkinga ze-thyroid, isifo sikashukela, izinkinga zesibindi, kanye nezinye izimo ze-autoimmune. Ukubhekwa njalo komnyango wezokwelapha kusiza ekutholeni lezi zinkinga kwangaphambili lapho zitholakala khona.

I-Turner syndrome ixilongwa kanjani?

I-Turner syndrome ixilongwa ngokuhlolwa kwegazi okuthiwa yi-chromosomal analysis noma i-karyotyping, ehlola ama-chromosome emangqamuzaneni akho. Lolu hlolo lungaqinisekisa ukuthi i-Turner syndrome ikhona futhi ibonise uhlobo olukhona.

Inqubo yokuxilongwa ivame ukuqala lapho udokotela eqaphela izibonakaliso zomzimba noma izindlela zokukhula eziphakamisa i-Turner syndrome. Udokotela wakho uzokuqala ngokuhlolwa komzimba futhi ahlole umlando wakho wezokwelapha nokukhula.

Ngezinye izikhathi i-Turner syndrome ixilongwa ngaphambi kokuzalwa ngokuhlolwa kokuthwalwa kwengane. Ama-ultrasounds angase abonise izici ezithile njengokuhluleka kwenhliziyo noma ukukhula okukhulu, okuholela ekuhlolweni kwe-genetic. Noma kunjalo, amacala amaningi axilongwa ngesikhathi sobuntwana noma ubusha lapho izinkinga zokukhula noma zokukhula ziqala ukubonakala.

Ezinye izivivinyo zingase zidingeke ukuhlola izinhlanganisela zempilo uma i-Turner syndrome ixilongwe. Lezi zivame ukufaka ama-ultrasounds enhliziyo, ukubuka izinkampani, ukuhlolwa kokuzwa, kanye nokusebenza kwegazi ukuhlola umsebenzi we-thyroid kanye nezinye izinhlelo zomzimba.

Ukuphathwa kwe-Turner syndrome kunjani?

Ukuphathwa kwe-Turner syndrome kugxile ekulawuleni izimpawu nasekuvimbeni izinhlanganisela ngokuxubana kokwelashwa kwe-hormone, ukulandelela njalo, kanye nokunakekelwa okusekayo. Uhlelo lokuphathwa oluthile kuncike ezimpawu ezikhona nobukhulu bazo.

Ukuphathwa kwe-growth hormone kuvame ukunconywa kubantwana abane-Turner syndrome abafushane kakhulu ngeminyaka yabo. Lokhu kuphathwa kungasiza ekuthuthukiseni ukukhula komuntu omdala, nakuba kudinga ukudutshulwa njalo eminyakeni eminingi. Ukuqala ukwelashwa kwangaphambili ebuntwaneni kuvame ukuletha imiphumela emihle.

Ukuphathwa kwe-estrogen replacement therapy kuvame ukuqala ngeminyaka yobusha ukuthuthukisa ukuqala kwesikhathi sokuqala nokuthuthuka kwezici zokuthuthuka kwesondo. Lokhu kuphathwa kwe-hormone kusiza ekuthuthukiseni kwamabele, ukuqala kwesikhathi sokuqala, kanye nempilo yamathambo. Isikhathi kanye nomthamo uhlelwe ngokucophelela ukulingisa ukuqala kwesikhathi sokuqala kwemvelo ngangokunokwenzeka.

Ukulandelela nokwelashwa kwenhliziyo kuyizici ezibalulekile zokunakekelwa okuqhubekayo. Kuye ngezinkinga ezithile zenhliziyo ezikhona, ukwelashwa kungafaka imithi, ukubhekwa njalo ngochwepheshe benhliziyo, noma izinqubo zokusebenza ukuqeda ukungasebenzi kahle kwesakhiwo.

Ukusekelwa kwezemfundo kungasiza ekuqondeni ukwahlukahluka kokufunda, ikakhulukazi ngezibalo nezimiso zezindawo. Abantu abaningi abane-Turner syndrome bayazuza ekufundiseni okukhethekile noma ekuhlanganiseni kwezemfundo ukuze bafinyelele ikhono labo lezemfundo.

Indlela yokuphatha i-Turner syndrome ekhaya?

Ukuphatha i-Turner syndrome ekhaya kuhlanganisa ukudala indawo yokusekela ethuthukisa ukukhula okunempilo futhi iqeda izidingo ezithile. Izindlela zansuku zonke ezihlala zifana nokuxhumana okuvulekile ngaleli dimo kusiza ekuthuthukiseni ukuzethemba nokuzimela.

Ukugcina indlela yokuphila enempilo kuba yinto ebalulekile kubantu abane-Turner syndrome. Ukuzivocavoca njalo kusiza ekuthuthukiseni impilo yamathambo, ukusebenza kwenhliziyo, kanye nempilo yonke. Imisebenzi yokuqeqesha njengokuhamba, ukudansa, noma imidlalo ingaba usizo kakhulu ekuqiniseni amathambo.

Ukudla okuhle kusekela ukukhula nokuthuthuka, ikakhulukazi ngesikhathi sobuntwana nasesikhathini sokuqala kwesikhathi sokuqala. Ukudla okuhlukahlukene okunama-calcium nama-vitamin D kusiza ekuvikeleni impilo yamathambo, ngenkathi ukugcina isisindo esinempilo kunciphisa ukucindezeleka enhliziyweni nakwezinye izitho.

Ukuhlangana kwemithi kubalulekile lapho ukwelashwa kwe-hormone kunconywe. Ukuqamba izinhlelo zokukhumbuza nokuqonda ukubaluleka kokwelashwa okuhlala kuqhubeka kusiza ekuqinisekiseni imiphumela emihle kakhulu.

Ukusekelwa ngokomzwelo nokwelulekwa kungasiza ekuqondeni izinkinga zokuzethemba, izinselele zokuxhumana, noma ukukhathazeka ngokubonakala nokukhulelwa. Imindeni eminingi ithola amaqembu okusekela usizo ekuhlanganiseni nabanye abaqonda izici ezihlukile zokuphila ne-Turner syndrome.

Kufanele ulungiselele kanjani i-appointment yakho nodokotela?

Ukulungiselela i-appointment yomnyango wezokwelapha kusiza ekuqinisekiseni ukuthi uthola inzuzo enkulu yesikhathi sakho nabaphakathi bezokwelapha. Ukugcina amarekhodi ahleliwe nokulungiselela imibuzo kusengaphambili kwenza i-appointment ibe yiyona ephumelelayo.

Letha uhlu oluphelele lwemithi yamanje, kufaka phakathi umthamo nesikhathi. Lokhu kuhlanganisa imithi yokwelapha, imithi yokuthengwa ngaphandle kwelayisensi, kanye nanoma yimaphi ama-supplements. Letha futhi amarekhodi wemiphumela yokuhlola yakamuva, amashadi okukhula, nanoma yiziphi izimpawu oziqaphelayo.

Bhala imibuzo noma ukukhathazeka okuthile ngaphambi kwe-appointment yakho. Izihloko ezivamile zingase zihlanganise izindlela zokukhula, izigaba zokuthuthuka, izinketho zokwelapha, noma ukukhathazeka ngezinhlanganisela. Ungangabazi ukubuza nganoma yini ekukhathazayo.

Cabanga ukuletha ilungu lomndeni noma umngani wokusekela, ikakhulukazi nge-appointment ebalulekile noma lapho uxoxa ngokuguqulwa kokwelapha. Bangasiza ekukhumbula ulwazi oluxoxwe futhi banikeze ukusekelwa ngokomzwelo.

Lungela ukuxoxa ngendlela yakho yansuku zonke, noma yiziphi izimpawu noma izinguquko oziqaphelayo, kanye nendlela ozizwa ngayo ngokomzwelo. Iqembu lakho lezokwelapha lidinga lolu lwazi ukuze linikeze ukunakekelwa okuhle kakhulu.

Yini eyinhloko nge-Turner syndrome?

I-Turner syndrome iyimo lemfundo elilawuleka eliqeda abesifazane, futhi ngokunakekelwa komnyango wezokwelapha nokwesekwa okufanele, abantu abaningi abane-Turner syndrome bangaphila impilo enempilo, egcwele. Ukuxilongwa kwangaphambili nokuphathwa okufanele kwenza umehluko omkhulu kwimiphumela.

Into ebaluleke kakhulu okumele uyikhumbule ukuthi i-Turner syndrome iqeda wonke umuntu ngokhlukile. Nakuba kunesimpawu ezivamile kanye nezinhlanganisela ezingase zibe khona, isipiliyoni somuntu ngamunye sihlukile. Okusebenza komunye umuntu kungase kungabi yindlela engcono komunye umuntu.

Ukulandelela njalo komnyango wezokwelapha nokugcina ukwelashwa kwamanje kubalulekile ekuvimbeni izinhlanganisela nasekugcineni impilo enhle. Lokhu kuhlanganisa ukusebenza neqembu lochwepheshe abaqonda i-Turner syndrome futhi bangapha inkonzo ephelele.

Ukusekelwa komndeni, abangane, kanye nabaphakathi bezokwelapha kudlala indima ebalulekile ekusizeni abantu abane-Turner syndrome ukuze baphile. Abantu abaningi abaneli dimo bafinyelela imigomo yabo yezemfundo, yomsebenzi, kanye nemigomo yabo siqu ngokusekelwa okufanele nokuzimisela.

Imibuzo evamile ebuzwa nge-Turner syndrome

Abantu abane-Turner syndrome bangaba nabantwana?

Abantu abaningi abane-Turner syndrome banezinselele zokuzala ngenxa yokungasebenzi kahle kwama-ovari, kodwa ukuthwalwa kwengane kungenzeka kwezinye izimo. Cishe abantu abangu-2-5% abesifazane abane-Turner syndrome bangakhulelwa ngokwemvelo. Kwabanye, ubuchwepheshe bokuzala obusiziwe njengokunikwa kwama-egg kungenza ukuthwalwa kwengane kube nokwenzeka ngokusekelwa komnyango wezokwelapha okufanele.

Ingabe i-Turner syndrome uhlobo lobuphengeli?

I-Turner syndrome ayilona ubuphengeli. Abantu abaningi abane-Turner syndrome banengqondo evamile ngokujwayelekile, nakuba bangase babe nokuhlukahluka kokufunda okuthile, ikakhulukazi ngezibalo, izimiso zezindawo, kanye nezibonakaliso zokuxhumana emphakathini. Lezi zinselele zingase ziqondwe ngokusekelwa kwezemfundo okufanele.

Abantu abane-Turner syndrome bavame ukuphila isikhathi esingakanani?

Ngokunakekelwa komnyango wezokwelapha okufanele, abantu abane-Turner syndrome bangaba nokuphila okuvamile noma okuhlangana nokuphila okuvamile. Okubalulekile ukulandelela njalo nokuphathwa kwezinhlanganisela ezingase zibe khona, ikakhulukazi izinkinga zenhliziyo. Abesifazane abaningi abane-Turner syndrome baphila impilo egcwele, enempilo kuze kube eminyakeni yabo yobudala.

Ingabe i-Turner syndrome izoba mbi ngokuhamba kwesikhathi?

I-Turner syndrome ngokwayo ayi"bi", kodwa ezinye izinhlanganisela zingase zivele ngokuhamba kwesikhathi uma zingalawulwa kahle. Ukulandelela njalo komnyango wezokwelapha kusiza ekutholeni nasekuphatheni izinkinga kwangaphambili. Ngokunakekelwa okufanele, izici eziningi zaleli dimo zingalawulwa noma zivinjelwe ngokuphumelelayo.

Ingabe i-Turner syndrome ingavikelwa?

I-Turner syndrome ayikwazi ukuvinjelwa ngoba ivela ngenxa yamaphutha e-chromosome angahleliwe ngesikhathi sokuhlukaniswa kwamaseli. Ayibangelwa yilutho abazali abalwenzile noma abangazange balwenze, futhi asikho isindlela sokuvimbela ukuguqulwa kwe-chromosome okubangela leli dimo. Noma kunjalo, ukuxilongwa kwangaphambili nokuphathwa kungavimbela noma kunciphisa izinhlanganisela eziningi.