Wake waphawula ukuthi ingane yakho ihlala ikhathele futhi iphaphathekile? Ngezinye izikhathi sicabanga ukuthi kunjalo ngabantwana abancane, kodwa kungase kube nesizathu esingasazi. Namuhla sizokhuluma ngesimo segazi esingavamile, kodwa esibaluleke kakhulu ukwazi. Lokhu kubizwa ngokuthi i-Diamond-Blackfan Anemia (DBA).
Kalula nje, iyini i-Diamond-Blackfan Anemia (DBA)?
Lesi yisifo segazi esingavamile kakhulu. Kalula nje, okwenzekayo ukuthi umongo wethu wethambo awukwazi ukukhiqiza amangqamuzana abomvu egazi anele. Uyazi, lawa mangqamuzana abomvu egazi yiwo athwala umoya-mpilo emizimbeni yethu yonke. Ngakho-ke uma enganele, kuba nomthelela omkhulu ekusebenzeni komzimba.
I-DBA iyisifo sofuzo . Lokhu kusho ukuthi lesi simo sibangelwa ushintsho kuma-gene. Lezi zinguquko zofuzo zinquma ukuthi izimpawu zimbi kangakanani. Sithinta cishe ingane eyodwa kwezingu-500,000 emhlabeni jikelele. Nakuba kuyisimo sokuphila konke, ngokwelashwa okufanele, izimpawu zingalawulwa futhi impilo enhle ingaphilwa .
Ziyini izimpawu zalesi sifo?
Cishe wonke umuntu one-DBA une-anemia. Lokho kusho ukuntuleka kwegazi. Izimpawu zingaba zincane kakhulu kwabanye, futhi zingaba zimbi kakhulu kwabanye. Ake sibheke izimpawu eziyinhloko ezingabonakala.
| Isibonakaliso | Incazelo elula |
|---|---|
| Ukukhathala | Ngenxa yokuthi umzimba awutholi inani elidingekayo lomoya-mpilo, uvame ukuzizwa ulele futhi ukhathele kakhulu ukwenza noma yini. |
| Ukuphaphatheka kwesikhumba (Umbala okhanyayo) | Ikakhulukazi izintende zezandla, izindebe, kanye nezindawo ezingaphansi kwamehlo, zibonakala ziphaphathekile. Lokhu kungenxa yokuntuleka kwamaseli abomvu egazi, okunciphisa umbala obomvu wegazi. |
| Inhliziyo esheshayo (i-Tachycardia) | Uma izicubu zomzimba zingatholi umoya-mpilo owanele, inhliziyo kufanele isebenze kanzima ukuze ilungise ukuntuleka kwayo. Ngenxa yalokho, inhliziyo ishaya ngokushesha. |
| Ubunzima bokuphefumula | Kuba nzima ukuphefumula ngezinye izikhathi, njengalapho uhamba ibanga elifushane noma ukhuphuka izitebhisi. |
| Ukulahlekelwa yisifiso sokudla kanye nobuthakathaka | Ungase futhi uqaphele ukulahlekelwa yisifiso sokudla kanye nobuthakathaka. |
| Ikhanda elibuhlungu kanye nokuvuvukala kwamalungu | Abanye abantu bangase babe nezimpawu ezifana nekhanda elibuhlungu kanye nokuvuvukala kwamalungu omzimba. |
Kungani lokhu kwenzeka?
Ake sithi kukhona incwadi enikeza imiyalelo yayo yonke into emzimbeni wethu, ebizwa ngokuthi izakhi zofuzo zethu. Kukhona uhlobo lwezakhi zofuzo olunikeza imiyalelo yokwenza amangqamuzana abomvu egazi olubizwa ngokuthi ``ribosomal protein genes``. I-DBA yenzeka uma kukhona ukwehluka kulawo mazakhi zofuzo. Khona-ke inqubo yokwenza amangqamuzana abomvu egazi ayisebenzi kahle.
Phakathi kuka-10% no-25% wabantu abane-DBA bayizuza njengefa kubazali babo. Kodwa-ke, ezimweni eziningi, kuyisimo esisha esingakaze sibe khona emndenini ngaphambili .
Ingabe lokhu kungabangela ezinye izinkinga?
Yebo, i-DBA inengozi yezinye izinkinga eziningana zempilo.
Into ebalulekile ukuthi akuzona zonke lezi zinto ezenzeka kuwo wonke umuntu. Kodwa kubaluleke kakhulu ukuqaphela lokhu futhi uhlale uxhumana nodokotela wakho.
| Izinkinga ezingaba khona | Kusho ukuthini lokho? |
|---|---|
| Izinkinga zokuzalwa | Kukhona ithuba lokuzalwa unezinkinga ezithile enhliziyweni, ezinso, noma emalungeni. |
| Ukukhula kuyawohloka | Intuthuko yengane ingase ibambezeleke ngenxa yeminyaka yayo. |
| Ukweqisa kwensimbi | Ukunikela ngegazi njalo kungabangela ukuba amazinga e-iron emzimbeni akhuphuke ngokungadingekile. |
| Ukwehla kwamanye amaseli egazi | Izimo ezinjengokwehla kwama-neutrophils, uhlobo lweseli elimhlophe legazi, (i-Neutropenia), ukwehla kwama-platelet (i-Thrombocytopenia), noma ukwehla kwazo zonke izinhlobo zamaseli egazini (i-Pancytopenia) kungenzeka. |
| Masiqaphele futhi ingozi yomdlavuza. | |
Abantu abane-DBA basengozini enkulu kancane yokuthola izinhlobo ezithile zomdlavuza kunabantu abaningi. Lokhu kufaka phakathi:
| |
Odokotela bakuthola kanjani lokhu?
Uma udokotela wakho esola lesi sifo, uzokwenza izivivinyo eziningana ukuze asiqinisekise.
- Ukubalwa Kwegazi Okuphelele (i-CBC): Lokhu kuhlola inani lamaseli abomvu egazi, amaseli amhlophe egazi, ama-platelet, kanye ne-hemoglobin (i-hemoglobin) egazini. Ku-DBA, amaseli abomvu egazi kanye namazinga e-hemoglobin aphansi kakhulu.
- Inani lama-Reticulocyte: Ama-Reticulocyte amangqamuzana abomvu egazi asanda kwakheka, angakavuthwa. Inani eliphansi lalawa lisho ukuthi kunenkinga ngomnkantsha wamathambo okwenza amangqamuzana abomvu egazi.
- Ukuphefumula Komnkantsha Wamathambo Nokuhlolwa Kwegazi: Lokhu kuhilela ukuthatha isampula encane yomnkantsha wamathambo bese uwuhlola ngaphansi kwe-microscope. Lokhu kungasiza ekunqumeni ukuthi kukhona yini ukwehla kokukhiqizwa kwamangqamuzana abomvu egazi.
Yiziphi izindlela zokwelapha?
Kunezindlela eziningana zokwelapha i-DBA. Udokotela uzonquma ukwelashwa okufanele kakhulu ngokusekelwe esimweni sesiguli.
1. Ama-Corticosteroids: Lena imithi yohlobo lwe-steroid. Le mithi ivuselela umongo wamathambo futhi ikhulise ukukhiqizwa kwamaseli abomvu egazi. Imiphumela ivame ukubonakala phakathi kwamasonto amabili kuya kwamane.
2. Ukumpontshelwa Igazi: Kalula nje, ukumpontshelwa igazi. Ukunikeza isiguli amangqamuzana abomvu egazi avela kubanikeli kungabuyisela ngokushesha inani lamangqamuzana abomvu egazi emzimbeni. Lokhu ukwelashwa okuvame ukuqaliswa ngokushesha nje lapho kutholakala ukuthi unesifo.
3. Ukufakelwa Kwamaseli Esiqu: Lena ukuphela kwendlela yokwelapha lesi sifo ngokuphelele . Kodwa-ke, lokhu kuyindlela yokwelapha eyinkimbinkimbi, eyingozi, futhi engase isongela impilo. Ngakho-ke, odokotela babheka isiguli ngasinye ngokwaso futhi basebenzisa lokhu kwelashwa kuphela uma kudingeka ngempela.
Kuzokwenzekani esikhathini esizayo? Kuthiwani ngobude besikhathi sokuphila?
Ngokwelashwa okufanele kanye nokubhekwa njalo kwezokwelapha, iziguli ze-DBA zingaphila impilo enhle. Kodwa-ke, lesi yisimo esidinga ukunakekelwa impilo yonke. Ngemva kweminyaka engu-25, ingozi yezinkinga ezinkulu inganda kancane.
Ngokuphathelene nobude bempilo, kuyahlukahluka kumuntu nomuntu. Kuncike ebunzimeni bezimpawu kanye nendlela esabela ngayo ekwelashweni. Izifundo zikhombisile ukuthi ngokwelashwa, cishe ama-75% eziguli aphila iminyaka engama-50 ubudala . Kodwa-ke, njengoba lesi yisifo esingavamile kakhulu, idatha ilinganiselwe. Udokotela wakho kuphela ongakunikeza ulwazi olunembile kakhulu ngesimo sakho.
Kufanele ngimbone nini udokotela?
Uma wena noma ingane yakho nine-DBA, kubalulekile ukuthi nihlale nixhumana nodokotela wakho. Ungalokothi uphuthelwe ama-aphoyintimenti akho asemtholampilo ahleliwe.
Futhi, uma uzizwa sengathi izimpawu zakho ziya ziba zimbi kakhulu, isibonelo, uma uzizwa ukhathele ngokuzumayo noma uma uthola izifo ezivame ukutheleleka , tshela udokotela wakho ngokushesha.
Yini okufanele uyenze uma kunesimo esiphuthumayo?
Uma kuvela noma yiziphi izimpawu ezilandelayo, hamba uye eMnyangweni Wezimo Eziphuthumayo (ETU) wesibhedlela esiseduze ngokushesha.
- Ubuhlungu besifuba
- Ubuhlungu obukhulu besisu
- Ikhanda elibuhlungu kakhulu noma ukulahlekelwa ukwazi (kungaba izimpawu zesifo sohlangothi)
- Ukopha okungalawuleki
Ukuphila nesimo sokuphila konke njenge-DBA, abantu abaningi abangakaze bezwe ngaso, akulula. Kungaba nzima kakhulu uma kuthinta ingane yakho. Ungase uzizwe uwedwa. Kodwa khumbula, awuwedwa. Udokotela wakho kanye nethimba lezokwelapha bazokunikeza ukwesekwa, iseluleko, kanye nohlelo lokwelashwa oludingayo.
Umlayezo Wokuya Nawe Ekhaya
- I-Diamond-Blackfan anemia (DBA) yisifo esingavamile, esibangelwa izakhi zofuzo esithinta ukukhiqizwa kwamangqamuzana abomvu egazi emnkantsheni wethambo.
- Izimpawu eziyinhloko ukuphaphatheka okubangelwa yi-anemia, ukukhathala njalo, kanye nokuphelelwa umoya.
- Izimpawu zingalawulwa kahle ngemithi yama-steroid kanye nokumpontshelwa igazi. Nakuba ukufakelwa kwamaseli okuqala kwenziwa ukuze kwelapheke ngokuphelele, kuyindlela yokwelapha eyingozi.
- Njengoba lesi kuyisimo esihlala isikhathi eside, kubaluleke kakhulu ukuthola ukuqashwa njalo kwezokwelapha kanye nokwelashwa okufanele.
- Uma wena noma ingane yakho ninezimpawu noma imibuzo ngalesi sifo, ningalokothi ninqikaze ukukhuluma nodokotela wakho.
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