Ingabe ngezinye izikhathi uzizwa sengathi indodakazi yakho imfushane kunezinye izingane? Ngisho noma abanye abangane bayo abaneminyaka efanayo sebefinyelele ebusheni, indodakazi yakho ayikabonisi lezo zimpawu? Kuvamile kakhulu ukuthi umama noma ubaba azizwe esaba futhi ekhathazekile ngezinto ezinjengalezi. Esikhathini esiningi, lezi kungaba izinto ezivamile. Kodwa-ke, ngezinye izikhathi isizathu salokhu kungaba yisimo esikhethekile sofuzo esibizwa ngokuthi 'i-Turner Syndrome' esithinta amantombazane kuphela. Akudingeki sesabe lapho sizwa leli gama. Namuhla, sizokhuluma kalula nangokucacile ngokuthi kuyini lokhu, kungani kwenzeka, nokuthi yini engenziwa ngakho.
Kalula nje, iyini i-Turner Syndrome?
I-Turner syndrome yisifo sofuzo esizalwa naso esithinta amantombazane kuphela. Asithelelani.
Ake sibuyele ku-biology ukuze sikuqonde lokhu. Kalula nje, yonke iseli emzimbeni wethu iqukethe 'ama-chromosome' anquma ulwazi lwethu lwezakhi zofuzo (ukuphakama kwethu, umbala, ukubukeka, njll.). Ngokuvamile, iseli lesifazane linama-chromosome amabili ocansi abizwa ngokuthi u-X (XX). Iseli lesilisa line-X eyodwa kanye ne-Y eyodwa (XY).
I-Turner syndrome yisimo lapho ingane yesifazane ilahlekelwa yiyo yonke noma ingxenye yayo yonke yama-chromosome amabili e-X. Lesi yisenzakalo esingahleliwe esenzeka ngesikhathi sokukhulelwa noma ngesikhathi sokukhulelwa. Kubalulekile ukukhumbula ukuthi lokhu akubangelwa yiphutha likamama noma likababa .
Lesi simo singathinta ingane ngayinye ngendlela ehlukile, kodwa kunezimpawu ezimbili ezivamile eziyinhloko:
1. Ukuba mfushane kunabanye (ubude obufushane)
2. Ama-ovari angasebenzi kahle , okusho ukuthi ukuthomba kanye nekhono lokuba nabantwana kuyathinteka.
Ziyini izimpawu? Sikubona kanjani lokhu?
Ezinye izingane zibonisa lezi zimpawu lapho zizalwa. Kwabanye, izimpawu zivela kancane kancane ebuntwaneni. Ngezinye izikhathi, lokhu akusolwa kuze kube yilapho sezikhulile. Ngakho-ke, kubaluleke kakhulu ukuqaphela lezi zimpawu.
Ngezinye izikhathi ukuhlolwa kokukhulelwa, njengokuskena kwe-ultrasound ngesikhathi sokukhulelwa, kunganikeza izinkomba. Isibonelo, uma ingane ibonakala sengathi inoketshezi ngemuva kwentamo yayo, noma uma kunenkinga ngenhliziyo noma izinso zayo, odokotela bangase basole.
| Isikhathi sokuqala kwezimpawu | Izici ezivamile ezingabonakala |
|---|---|
| Ngesikhathi sokuzalwa noma ngemva nje kwalokho |
|
| Ebuntwaneni, ebusheni, nasebudaleni |
|
Okubalulekile, akuzona zonke izingane ezine-Turner syndrome ezizoba nazo zonke lezi zimpawu. Ezinye izingane zingase zingabi nazo nhlobo izimpawu, futhi lesi simo singase singatholakali kuze kube yilapho sezikhulile.
Ingabe zikhona izinhlobo eziyinhloko ze-Turner syndrome?
Yebo, kunezinhlobo ezimbili eziyinhloko kuye ngokuthi lesi simo senzeka kanjani.
I-Monosomy X
Lolu uhlobo oluvame kakhulu. Yilapho i-chromosome eyodwa engu-X ingekho khona ngokuphelele kuwo wonke amaseli emzimbeni wengane. Lokhu kuvame ukubangelwa yiphutha elingahleliwe eqandeni likamama noma esidoda sikababa ngesikhathi sokukhulelwa. Izimpawu zivame ukubonakala kakhulu kulolu hlobo.
I-Mosaic Turner Syndrome
Njengoba igama elithi 'mosaic' lisho, okwenzekayo lapha ukuthi ingxenye noma yonke i-chromosome X ayikho kwamanye amaseli emzimbeni wengane.Amanye amangqamuzana anama-chromosome ajwayelekile (XX). Cabanga ngomzimba wethu njengodonga olwenziwe ngezitini ezincane (amaseli). Esimweni se-mosaic, ezinye zezitini kuphela ezinalo mehluko. Ezinye zivamile. Leli yiphutha elingahleliwe elenzeka ngesikhathi sokuhlukaniswa kwamaseli ngesikhathi sesigaba sombungu. Lokhu kungabangela izimpawu ezimbalwa, futhi kungaba nzima ukuxilonga.
Yiziphi ezinye izinkinga zempilo (izinkinga) ezingavela ngenxa yalesi simo?
Izingane ezine-Turner syndrome zisengozini enkulu yezinkinga ezithile zempilo, ngakho-ke kubalulekile ukuhlolwa njalo kwezokwelapha.
| Uhlelo oluyinkinga | Izinkinga ezingaba khona |
|---|---|
| Inhliziyo nemithambo yegazi (Inhliziyo nemithambo yegazi) | Cishe ama-50% ezingane ezine-Turner syndrome zingase zibe nesifo senhliziyo esizalwa naso. Izinkinga nge-aorta, umthambo wegazi oyinhloko othwala igazi emzimbeni, zivame kakhulu. Umfutho wegazi ophakeme nawo ungase uvele. |
| Uhlelo lwamathambo | Kukhona ingozi eyengeziwe yezimo ezifana ne-osteoporosis, ukwaphuka kwamathambo, kanye ne-scoliosis. |
| Isistimu yomzimba (Autoimmune) | Kukhona ingozi yokuthola izifo ezibangelwa ukuzivikela komzimba, lapho amasosha omzimba ehlasela khona amangqamuzana awo. Izibonelo: izinkinga ze-thyroid (isifo sikaHashimoto), isifo se-celiac, izimo zamathumbu ezivuvukalayo (IBD). |
| Ukuzwa Nokubona | Ukulahlekelwa ukuzwa kungenzeka ngenxa yokutheleleka njalo kwendlebe ephakathi noma ukulimala kwemizwa. Izinkinga zokubona, njengamehlo ahlangene, nazo zingaba khona. |
| Izinso | Izinkinga ngesakhiwo sezinso zingavela, okungaholela ekuthelelekeni njalo kwe-urinary tract (UTIs). |
| Ukukhubazeka kokufunda | Nakuba ukuhlakanipha ngokuvamile kukuhle, kungase kube nezinkinga zokufunda, ikakhulukazi ezibalweni, ekuqondiseni, nasekucabangeni kwendawo. |
| Impilo yengqondo | Ukuphila nezinguquko emzimbeni wakho kanye nezinkinga zempilo kungaholela ekuziboneni uphansi, ukukhathazeka kanye nokucindezeleka. |
Udokotela uhlonza kanjani lokhu?
Udokotela angakwazi ukuxilonga lesi simo ngaphambi noma ngemva kokuzalwa komntwana.
Ngaphambi kokuzalwa:
- I-NIPT (Ukuhlolwa kokukhulelwa okungahlaseli): Lena indlela yokuhlola ulwazi lwezakhi zofuzo lomntwana kusetshenziswa isampula yegazi elithathwe kumama okhulelwe.
- Ukuskena nge-ultrasound: Lokhu kungase kusolwe uma ukuskena kubonisa izimpawu zezinkinga ngenhliziyo yengane, izinso, noma ukunqwabelana koketshezi ngemuva kwentamo.
- I-Amniocentesis: Lesi simo singaqinisekiswa ngo-100% ngokuthatha isampula yoketshezi lwe-amniotic oluzungeze umntwana nokwenza ukuhlolwa kofuzo (ukuhlaziywa kwe-karyotype) emaseli omntwana.
Ngemva kokuzalwa:
Ngemva kokuzalwa kwengane, uma udokotela esola ukuthi kukhona okungahambi kahle ngokusekelwe ezimpawini zengane, uzoyala ukuhlolwa kwegazi okubizwa ngokuthi 'i-karyotyping.' Lokhu kuhilela ukuthatha isampula yegazi nokuhlola ama-chromosome ngaphansi kwe-microscope ukuze kutholakale ukuthi i-chromosome X ayikho yini, iphelele noma ingxenye yayo.
Yiziphi izindlela zokwelapha? Ingabe ingelapheka ngokuphelele?
Okokuqala, ngoba i-Turner syndrome iyisifo esibangelwa izakhi zofuzo, ayikwazi ukuphulukiswa ngokuphelele.
Kodwa ungesabi! Kunezindlela eziningi zokwelapha ezinhle kakhulu ezitholakalayo namuhla ezingakusiza ukulawula izimpawu, uvimbele izinkinga ezingaba khona, futhi uphile impilo enempilo, ephumelelayo, nejabulisayo.
Ukwelashwa kugxile kakhulu kuma-hormone.
- Ukwelashwa ngama-hormone okukhula komuntu: Lokhu kwelashwa kubaluleke kakhulu ukwandisa ubude bomntwana. Lokhu kujova ngama-hormone okunikezwa nsuku zonke. Uma lokhu kwelashwa kuqalwa esemncane, okungukuthi, ngokushesha nje lapho kuqashelwa ukuthi ukukhula kuhamba kancane, ingane izokwazi ukufinyelela ukuphakama okuhle.
- Ukwelashwa nge-estrogen: Amantombazane amaningi ane-Turner syndrome awakhiqizi i-estrogen ngokwemvelo, ngakho-ke avame ukunikezwa i-estrogen evela emithonjeni yangaphandle ngesikhathi sokuthomba (cishe eminyakeni eyi-11-12). Yilokhu okubangela izimpawu zokuthomba, njengokukhula kwamabele kanye nokuqala kokuya esikhathini. Kubalulekile futhi emathanjeni aqinile kanye nempilo yenhliziyo.
- Ukwelashwa nge-progestin: Ngemva kweminyaka embalwa yokwelashwa nge-estrogen, i-hormone ebizwa ngokuthi i-progestin nayo inikezwa ukuze kulondolozwe umjikelezo wokuya esikhathini ngokwemvelo.
Ngaphezu kwalokhu kwelashwa kwama-hormone, kubalulekile ukufuna ukwelashwa nokuhlolwa njalo kochwepheshe abafanele ngezinkinga okukhulunywe ngazo ekuqaleni (njengesifo senhliziyo, izinkinga zezinso, kanye nokukhubazeka kokuzwa).
Kufanele ngikhulume nini nodokotela ngengane yami?
Kubaluleke kakhulu ukuxilonga lesi sifo bese uqala ukwelashwa ngokushesha okukhulu.
Qaphela ukukhula kwengane yakho kanye nezinyathelo ezibalulekile. Uma ucabanga ukuthi indodakazi yakho imfushane kakhulu kunezinye izingane ezingontanga yayo, noma uma ikhombisa noma yiziphi izimpawu zomzimba ezishiwo ngenhla, ungalibali ukukhuluma nodokotela wezingane.
Kunezinye izinto ezimbili ezibalulekile odokotela abazincomayo:
- Ukuhlolwa kokukhubazeka kokufunda: Kungumqondo omuhle ukunaka ukukhula kwengane yakho kusenesikhathi, mhlawumbe iseneminyaka eyi-1-2 ubudala, bese uhlola ukukhubazeka kokufunda. Uma kukhona, ungakhuluma nothisha esikoleni futhi unikeze ingane ukwesekwa okukhethekile ekudingayo.
- Ukufuna ukwesekwa kwempilo yengqondo: Kubaluleke kakhulu ukufuna usizo kumeluleki wezempilo yengqondo (isazi sengqondo sezingane) ukuze usize ingane yakho ibhekane nezinkinga zomphakathi, ukuzethemba okuphansi, kanye nokukhathazeka okuvela lapho iphila nalesi simo.
Nakuba isikhathi sokuphila kwengane ene-Turner syndrome singase sibe sifushane kancane kunesomphakathi jikelele, ngokuqashwa njalo kwezokwelapha, ukwelashwa ngesikhathi esifanele, kanye nokuphathwa kahle kwezinkinga zempilo, ingaphila impilo evamile nejabulisayo.
Umlayezo Wokuya Nawe Ekhaya
- I-Turner Syndrome yisimo sofuzo esithinta amantombazane kuphela futhi asibangelwa abazali.
- Izimpawu ezimbili eziyinhloko ukwehla kobude kanye nokubambezeleka noma ukungabikho kokuthomba.
- Kungathinta inhliziyo, izinso, amathambo, ngisho nempilo yengqondo. Ngakho-ke, ukuhlolwa njalo kwezokwelapha kubalulekile.
- Nakuba lesi simo singelapheki ngokuphelele, izimpawu zingalawulwa kahle ngokwelashwa ngama-hormone kanye nezinye izindlela zokwelapha.
- Ukutholwa kusenesikhathi kubalulekile empumelelweni yokwelashwa. Uma unenkinga mayelana nokukhula kwengane yakho, ungalibali ukukhuluma nodokotela wakho.
- Ngokunakekelwa okufanele kwezokwelapha kanye nothando lomndeni kanye nokusekelwa, indodakazi ene-Turner syndrome inethuba elihle lokuphila impilo ephumelelayo nejabulisayo.
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