Ingabe ingane yakho encane inenkinga yezempilo engaphezu kweyodwa? Mhlawumbe uke waphawula inkinga yenhliziyo, izifo ezivame ukwenzeka, noma ukubambezeleka kokukhula. Eziningi zalezi zinkinga ezibonakala zingahlobene zingaba nembangela eyodwa. Leso yisimo esisodwa sofuzo esizokhuluma ngaso namuhla. Sibizwa ngokuthi i-DiGeorge Syndrome.
Kalula nje, iyini i-DiGeorge Syndrome?
Lesi yisifo esibangelwa izakhi zofuzo . Imizimba yethu yakhiwe ngamaseli. Iseli ngalinye linento ebizwa ngokuthi ama-chromosome. Cabanga ngalezi zincwadi njengezincwadi ezinkulu ezibhala phansi ukuthi konke okusemzimbeni wethu kwenziwa kanjani. Ngakho-ke, lesi simo senzeka lapho ingxenye encane, njengekhasi, yale ncwadi ebizwa ngokuthi i-chromosome 22 ingekho. Ukuze kube sobala, lokhu kubizwa nangokuthi i-22q11.2 deletion syndrome . Lokho kusho ukuthi ingxenye ebizwa ngokuthi i-11.2 engalweni ende ebizwa ngokuthi 'q' ye-chromosome 22 ilahlekile.
Uma lesi sicucu esincane sezakhi zofuzo singekho, sithinta ukukhula nokusebenza kwezingxenye eziningana zomzimba wengane. Ezinye izingane azithinteki kakhulu , kanti ezinye zingase zithinteke kakhulu. Kuhlukahluka kuye ngengane. Nakuba kungekho ikhambi eliphelele lalokhu, singakwazi ukulawula izimpawu futhi sisize ingane iphile impilo enhle.
Yiziphi izimpawu ezibonakala kulesi simo?
Akuzona zonke izingane ezinalesi simo ezifanayo. Ezinye izingane zingase zingabonisi zimpawu nhlobo. Ezinye zingase zibonise izimpawu ezithinta izingxenye eziningana zomzimba. Ake sibheke izinkinga eziyinhloko ezibonakala.
| Uhlelo lomzimba luthintekile | Izimpawu ezingabonakala |
|---|---|
| Izinkinga Zenhliziyo |
|
| Isistimu yomzimba (Ukuntuleka Kwemizimba) | |
| Izici Zobuso Ezihlukile | |
| Ukuthuthukiswa kobuchopho nokufunda (Izinkinga Zokuqonda) | |
| Ezinye Izimpawu Nezimpawu |
|
Kungani lokhu kwenzeka enganeni? Iyini imbangela?
Njengoba sixoxile ngaphambili, lokhu kubangelwa ukulahlekelwa yingcezu encane ye-chromosome 22. Kunezizathu ezimbili eziyinhloko ezenza lokhu kwenzeke.
1. Isenzakalo esingahleliwe: Lesi yisona esivame kakhulu (9 kwangu-10) . Uma umntwana ekhulelwa, okungukuthi, okokuqala lapho iqanda likamama kanye nesidoda sikababa kuhlangana, lesi siqeshana se-chromosome singalahleka ngengozi. Lokhu kuyinto eyenzeka ngokungahleliwe.
2. Ifa elivela kubazali: Akuvamile kakhulu (cishe oyedwa kwabayi-10)Ingane ingazuza lesi simo kumama noma kuyise onaso. Sizuzwa ngendlela "elawulwa yi-autosomal". Lokhu kusho ukuthi noma omunye wabazali enaso, ingane cishe izosithola.
Into ebaluleke kakhulu yilokhu. Esikhathini esiningi, lokhu kwenzeka ngokungahleliwe, ngakho ungazizwa kabi ngakho, ucabange ukuthi kungenxa yanoma yini oyenzile noma ongayenzanga ngesikhathi sokukhulelwa kwakho. Lokhu akulona iphutha lakho nhlobo.
Odokotela bakuthola kanjani lokhu?
Ngezinye izikhathi, ukuhlolwa kokukhulelwa kunganikeza izinkomba ngalesi simo. Isibonelo, singatholakala ngesikhathi se-ultrasound yokukhulelwa noma ukuhlolwa okukhethekile njenge-amniocentesis.
Kodwa-ke, isikhathi esiningi, lokhu kutholakala kuphela ngemva kokuzalwa komntwana. Lapho udokotela ehlola umntwana, angase akusole lokhu ngokubona izici ezikhethekile ebusweni nasezindlebeni zomntwana. Ngemuva kwalokho, kwenziwa izivivinyo eziningana ukuqinisekisa ukusola.
Ukuhlolwa kwalokhu
- I-Echocardiogram: Iskeni sokubheka umsebenzi kanye nesakhiwo senhliziyo.
- Ukuhlolwa kwegazi: Lokhu kuhlanganisa ukuhlola izinga le-calcium egazini, ukwenza inani eliphelele legazi (i-CBC) kanye nokuhlola inani lamaseli amhlophe egazi.
- I-X-ray yesifuba: Hlola usayizi we-thymus gland.
- I-ultrasound yezinso
- Ukuhlolwa okukhethekile okuhlobene nokuzivikela komzimba: Isibonelo, `Immunophenotyping` kanye `Flow cytometry`.
- Ukuhlolwa kofuzo: Yilokhu okuqinisekisa ngqo ukuthi ucezu lwe-chromosome 22 alukho yini.
Kuphathwa kanjani lokhu?
Iphutha lofuzo elibangela lesi simo alinakuqedwa. Kodwa-ke, izimpawu nezinkinga ezivela kuso zingelashwa ngempumelelo enkulu . Lokhu akuyona into engenziwa udokotela oyedwa kuphela. Ithimba lochwepheshe emikhakheni eyahlukene lisebenza ndawonye ukwelapha ingane.
Izindlela zokwelapha ziyahlukahluka kuye ngezimpawu zengane.
- Ama-antibiotic anikezwa izifo ezivame ukutheleleka.
- Uma izinga le-calcium egazini liphansi , kunikezwa izithasiselo ze-calcium .
- Izinkinga zokuzwa zelashwa ngamapayipi ezindlebe noma izinsiza zokuzwa.
- Ukwelashwa kokukhuluma, ngokomzimba nangokomsebenzi kwelapha ukubambezeleka kokukhuluma, ukuhamba, kanye neminye imisebenzi.
- Ukwelashwa kokushintsha ama-hormone kusetshenziselwa ukwelapha izinkinga zama-hormone.
- Kungase kudingeke ukuhlinzwa uma kunezinkinga zenhliziyo noma ulwelwesi oluqhekekile.
- Izingane ezinezinkinga zokufunda zithunyelwa ezinhlelweni zemfundo ekhethekile esikoleni.
Kufanele uyiyise nini ingane yakho kudokotela?
Esikhathini esiningi, udokotela uzobona lesi simo lapho ezalwa noma ngesikhathi sokuhlolwa okuvamile ebuntwaneni. Kodwa-ke, uma usola ukuthi ingane yakho inanoma yiziphi izimpawu esixoxe ngazo, khuluma nodokotela wakho ngokushesha.
Ikakhulukazi, uma ingane yakho inobunzima bokuphefumula, yiyise eMnyangweni Wezimo Eziphuthumayo (ETU) wesibhedlela esiseduze ngokushesha.
Njengomzali, ungase uzizwe udabuke kakhulu futhi ukhungathekile lapho uthola ukuthi ingane yakho inesifo sofuzo njenge-DiGeorge Syndrome. Lokho kujwayelekile. Kodwa khumbula, ngokwelashwa nokusekelwa okufanele, laba bantwana bangaphila impilo esebenzayo nejabulisayo. Ngaphandle kwezimo ezisongela ukuphila njengezimo zenhliziyo ezimbi, iningi lezingane lingaphila impilo evamile.
Umlayezo Wokuya Nawe Ekhaya
- I-DiGeorge syndrome yisimo sofuzo esibangelwa ukulahlekelwa yingxenye encane ye-chromosome 22.
- Lokhu kuvame ukuba yinto engahleliwe. Akulona iphutha lakho.
- Izimpawu ziyahlukahluka kakhulu kuye ngengane. Ezinye zingaba nemiphumela emincane kakhulu, kanti ezinye zingaba nezimo ezibucayi njengesifo senhliziyo.
- Nakuba kungekho ikhambi eliqondile lalokhu, ukwelapha izimpawu kungasiza ingane ukuba iphile impilo enempilo nesebenzayo.
- Ukusekelwa yithimba lodokotela abangochwepheshe kubalulekile kulokhu. Khuluma nodokotela wakho ngokukhululekile ngalokhu.
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