Ingabe ingane yakho encane ibonakala ikhathele ngaso sonke isikhathi? Ayithandi yini ukudla kakhulu? Ingabe ike yaqaphela ukuthi inombala okhanyayo kunabanye abantwana? Nakuba lokhu kungase kubonakale njengezinto ezivamile, ngezinye izikhathi kungaba khona isimo esingavamile ngemuva kwalokhu esingazwakali kakhulu ngaso. Namuhla sizokhuluma ngesinye isimo esingavamile kangaka, kodwa uma siphathwa kahle, ungaphila naso ngempumelelo. Leso yi-Diamond-Blackfan Anemia, noma `(Diamond-Blackfan Anemia - DBA)`.
Kalula nje, iyini i-Diamond-Blackfan Anemia (DBA)?
Ake sithi sinefektri enkulu ngaphakathi emizimbeni yethu eyenza igazi. Siyibiza ngokuthi umongo wamathambo . Umsebenzi oyinhloko wale fektri ukwenza amangqamuzana egazi abomvu, izisebenzi ezincane ezithwala umoya-mpilo emizimbeni yethu yonke. I-DBA yisimo lapho le fektri ebizwa ngokuthi umongo wamathambo ingakwazi ukwenza amangqamuzana egazi abomvu anele. Lokhu akuvamile kakhulu, okusho ukuthi lesi simo senzeka cishe kubantwana abangu-500,000.
Lesi yisifo sofuzo . Lokhu kusho ukuthi sibangelwa ushintsho kumajini amangqamuzana omzimba wethu. Lokhu kubangela ukwehla kwenani lamaseli abomvu egazi emzimbeni. Lesi simo sibizwa ngokuthi i-anemia , noma ukuntuleka kwegazi noma i-anemia. I-DBA yisimo esihlala isikhathi eside. Kodwa ungakhathazeki, ngokwelashwa okuhle, abantu abaningi bangakwazi ukulawula izimpawu zabo futhi baphile impilo enhle .
Yiziphi izimpawu zomuntu one-DBA?
Izimpawu ze-DBA zingahluka kumuntu nomuntu. Abanye abantu bangase babe nezimpawu ezincane, kanti abanye bangase babe nezimpawu ezinzima kakhulu. Ake sibheke izimpawu eziyinhloko.
| Isibonakaliso | Incazelo elula |
|---|---|
| Ukukhathala okuvamile | Ngenxa yokuthi amangqamuzana omzimba awatholi inani elidingekayo lomoya-mpilo, uvame ukuzizwa ulele futhi ungabi namandla okwenza noma yini. |
| Ukuphaphatheka kwesikhumba (Umbala okhanyayo) | Isikhumba, izindebe, nezinzipho zibonakala zimhlophe ngenxa yokuntuleka kwamangqamuzana abomvu egazi, okuyiwona abangela umbala obomvu wegazi. |
| Inhliziyo esheshayo (i-Tachycardia) | Inhliziyo kufanele isebenze kanzima ukuze ipompe igazi ngokushesha futhi inikeze umzimba umoya-mpilo oyidingayo. |
| Ubunzima bokuphefumula | Ngezinye izikhathi, njengalapho ngihamba ibanga elifushane noma ngikhuphuka izitebhisi, ngikuthola kunzima ukuphefumula, futhi ngizizwa sengathi ngiyaminza. |
| Isifiso sokudla | Ikakhulukazi izingane ezincane ezingenaso isifiso sokudla. |
| Ikhanda elibuhlungu kanye nobuthakathaka | Isimo esivamile esibangelwa ukuntuleka komoya-mpilo emzimbeni nasebuchosheni. |
Kungani lolu hlobo lwesifo luvela? Iyini imbangela?
Njengoba sixoxile ngaphambili, lesi yisifo sofuzo. Kunezakhi zofuzo ezithile emzimbeni wethu ezisifundisa ukwenza amangqamuzana abomvu egazi. Zibizwa ngokuthi `(izakhi zofuzo ze-ribosomal protein)`. Umuntu one-DBA unesimo noma uguquko kulezi zakhi zofuzo. Ngenxa yalokho, inqubo yokwenza amangqamuzana abomvu egazi ayisebenzi kahle.
Into ebalulekile ukuthi ingadluliselwa kusuka kubazali iye ezinganeni. Kodwa lokhu kwenzeka kuphela ngephesenti elincane, cishe u-10% - 25%. Ezimweni eziningi, ingane ingaba nalesi simo ngisho noma kungekho muntu emndenini onalesi sifo, ngenxa yokuguquka kwezakhi zofuzo okungahleliwe.
Yiziphi ezinye izinkinga ezingaba khona ngenxa ye-DBA?
I-DBA ayithinti nje kuphela amangqamuzana abomvu egazi. Ngezinye izikhathi ingabangela nezinye izinkinga zempilo. Futhi, abantu abane-DBA basengozini enkulu yokuba nezinhlobo ezithile zomdlavuza kunabantu abaningi.
| Uhlobo lwenkinga | Incazelo |
|---|---|
| Izinkinga ezivamile | |
| Izinkinga zokuzalwa | Kungase kube nezinkinga ezithile ngenhliziyo, izinso, noma izitho zomzimba. |
| Ukukhula kuyawohloka | Ukukhula ngokomzimba kuhamba kancane kunalokho okulindelekile uma umuntu ekhula. |
| Ukweqisa kwensimbi | Ukunikela ngegazi njalo kungabangela ukuba amazinga e-iron emzimbeni akhuphuke ngokungadingekile, kulimaze izitho zomzimba njengenhliziyo nesibindi. |
| Ukwehla kwamanye amaseli egazi | Ngezinye izikhathi amanye amangqamuzana egazi, njenge-white blood cells (neutropenia) noma ama-platelet (thrombocytopenia), nawo angase abe phansi. |
| Ingozi yomdlavuza (iphezulu kancane) | |
| I-Leukemia | Ikakhulukazi uhlobo lomdlavuza wegazi olubizwa ngokuthi ``Acute myeloid leukemia - AML``. |
| I-Myelodysplastic syndrome (MDS) | Esinye isifo segazi esiphazamisa ukusebenza komnkantsha wamathambo. |
| I-Osteosarcoma | Isimo somdlavuza esenzeka emathanjeni. |
Odokotela basithola kanjani lesi sifo ngokunembile?
Uma ingane yakho inalezi zimpawu, udokotela wakho uzoqala ngokuyihlola ngokucophelela bese ekubuza ngemininingwane. Ngemuva kwalokho, bangenza izivivinyo ezithile ukuqinisekisa ukuxilongwa.
- Ukubalwa Kwegazi Okuphelele (i-CBC): Lokhu kulinganisa inani lamaseli abomvu egazi, amaseli amhlophe egazi, nama-platelet egazini. Umuntu one-DBA unenani eliphansi kakhulu lamaseli abomvu egazi.
- Inani lama-reticulocyte: Ama-reticulocyte amangqamuzana abomvu egazi asanda kwakheka angakavuthwa ngokugcwele. Inani eliphansi lisho ukuthi umongo wethambo awukhiqizi amangqamuzana abomvu egazi amasha anele.
- Ukufuthwa komnkantsha wethambo kanye ne-biopsy: Lolu vivinyo oluyinhloko olusetshenziswa ukuqinisekisa lesi sifo. Kulokhu, kuthathwa isampula encane kakhulu yomnkantsha wethambo, ngokuvamile ethanjeni lesinqe, ngaphansi kwe-anesthesia. Bese ihlolwa ngaphansi kwe-microscope ukuze kutholakale ukuthi kukhiqizwa amangqamuzana abomvu egazi angakanani.
Yiziphi izindlela zokwelapha i-DBA?
Nakuba i-DBA ingelapheki ngokuphelele, kunezindlela zokwelapha ezisebenzayo ezingasiza ekulawuleni izimpawu nokugcina izinga lempilo elihle.
1. Ama-Corticosteroids: Le mithi ivuselela umongo wamathambo ukuze ukhiqize amaseli egazi abomvu engeziwe. Lokhu kwelashwa kuyaphumelela ezigulini eziningi.
2. Ukumpontshelwa igazi: Abantu abanezibalo zegazi eziphansi kakhulu banikezwa amangqamuzana abomvu egazi avela kumnikeli onempilo. Odokotela bangaqala lokhu kwelashwa ngokushesha nje lapho lesi sifo sitholakala. Lokhu kunikeza impumuzo esheshayo ezimpawini.
3. Ukufakelwa kwamaseli e-stem: Lokhu ukuphela kokwelashwa okungayelapha ngokuphelele i-DBA. Kodwa-ke, lokhu kuyindlela yokwelapha eyinkimbinkimbi kakhulu futhi eyingozi. Kulokhu, amaseli e-stem avela emnkantsheni womuntu ophilile (ngokuvamile ilungu lomndeni) afakwa esigulini. Lokhu akunakwenzeka kuwo wonke umuntu. Udokotela uhlola isimo sesiguli kahle, athole esifanelana kahle, bese enza lesi sinqumo ngemuva kokucabanga kakhulu.
Yini okufanele uyenze uma kunesimo esiphuthumayo?
Uma wena noma ingane yakho nine-DBA, kubaluleke kakhulu ukuhlala nixhumana nodokotela wakho. Kubalulekile ukugcina ama-aphoyintimenti nokuphuza imithi yakho njengoba uyalelwe. Uma izimpawu zakho ziba zimbi kakhulu (isibonelo, ukhathele kakhulu kunokujwayelekile, uthola izifo eziningi), tshela udokotela wakho ngokushesha.
Futhi, uma uhlangabezana nanoma yiziphi izimpawu ezilandelayo eziphuthumayo, hamba ngokushesha eMnyangweni Wezimo Eziphuthumayo (ETU) wesibhedlela esiseduze .
- Ubuhlungu obukhulu besifuba
- Ubuhlungu obukhulu besisu obungazelelwe
- Ikhanda elibuhlungu kakhulu ngokuzumayo, ukudideka, noma ubunzima bokukhuluma (lokhu kungaba izimpawu zokuhlaselwa yisifo sohlangothi)
- Ukopha okungalawuleki
Ukuphila nesifo esingavamile futhi esihlala isikhathi eside njenge-DBA, ikakhulukazi uma kuyingane yakho, kungaba nzima kakhulu. Kungazizwa unesizungu. Kodwa khumbula, awuwedwa. Udokotela wakho kanye nethimba lezokwelapha bazokunikeza ukwesekwa nesiqondiso osidingayo.
Umlayezo Wokuya Nawe Ekhaya
- I-Diamond-Blackfan anemia (DBA) yisifo esingavamile esithinta izakhi zofuzo esivimbela umongo wamathambo ukuthi ukhiqize amangqamuzana abomvu egazi anele.
- Ukukhathala okuvamile, ukuphaphatheka, kanye nokuphelelwa umoya yizimpawu eziyinhloko.
- Nakuba lesi yisimo esihlala isikhathi eside, singaphathwa ngempumelelo ngokwelashwa okufana nemithi yama-steroid kanye nokumpontshelwa igazi.
- Kubalulekile ukuhlala uxhumana nodokotela wakho njalo futhi uthole izivivinyo nokwelashwa okufanele.
- Qaphela izimpawu zesixwayiso eziphuthumayo (njengobuhlungu obukhulu besifuba, ukulahlekelwa ukwazi) bese uya e-Emergency Treatment Unit (ETU) yesibhedlela ngokushesha uma kwenzeka lokho.
- Ngisho noma uzizwa unesizungu ngoba lesi yisifo esingavamile, khumbula ukuthi kunethimba lezokwelapha kanye nezinhlelo zokusekela ezizokusekela.
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