Ngaba umntwana wakho ubonakala ediniwe ngalo lonke ixesha? Akathandi ukutya kakhulu? Ngaba ukhe waphawula ukuba umhlophe kancinci kunabanye abantwana? Nangona ezi zinto zingabonakala ngathi zizinto eziqhelekileyo, ngamanye amaxesha kunokubakho imeko engaqhelekanga emva kwale nto esingayivayo kangako. Namhlanje siza kuthetha ngemeko engaqhelekanga enjalo, kodwa ukuba ilawulwa kakuhle, ungaphila nayo ngempumelelo. Leyo yiDiamond-Blackfan Anemia, okanye `(Diamond-Blackfan Anemia - DBA)`.
Ngamafutshane, yintoni iDiamond-Blackfan Anemia (DBA)?
Khawucinge ukuba sinefektri enkulu ngaphakathi emizimbeni yethu eyenza igazi. Siyibiza ngokuba yi-bone marrow . Umsebenzi ophambili wale fektri kukwenza iiseli ezibomvu zegazi, abasebenzi abancinci abathwala ioksijini emizimbeni yethu. I-DBA yimeko apho le fektri ebizwa ngokuba yi-bone marrow ingenakwenza iiseli ezibomvu zegazi ezaneleyo. Oku kunqabile kakhulu, nto leyo ethetha ukuba le meko yenzeka kubantwana abamalunga ne-500,000.
Esi sisifo semfuza . Oku kuthetha ukuba sibangelwa kukutshintsha kwezakhi zofuzo kwiiseli zomzimba wethu. Oku kubangela ukwehla kwenani leeseli ezibomvu zegazi emzimbeni. Esi sifo sibizwa ngokuba yi-anemia , okanye ukungabikho kwegazi okanye i-anemia. I-DBA yimeko ehlala ubomi bonke. Kodwa ungakhathazeki, ngonyango olufanelekileyo, abantu abaninzi banokulawula iimpawu zabo baze baphile ubomi obuhle .
Zithini iimpawu zomntu one-DBA?
Iimpawu ze-DBA zingahluka kumntu nomntu. Abanye abantu banokufumana iimpawu ezingephi, ngelixa abanye banokufumana iimpawu eziqatha ngakumbi. Makhe sijonge iimpawu eziphambili.
| Uphawu | Ingcaciso elula |
|---|---|
| Ukudinwa rhoqo | Ngenxa yokuba iiseli zomzimba azifumani umlinganiselo ofunekayo weoksijini, uhlala uziva ulele kwaye ungenawo amandla okwenza nantoni na. |
| Ubumhlophe besikhumba (Ubumhlophe) | Ulusu, imilebe, kunye neenzipho zibonakala zimhlophe ngenxa yokungabikho kweeseli ezibomvu zegazi, ezibangela umbala obomvu wegazi. |
| Ukubetha kwentliziyo ngokukhawuleza (iTachycardia) | Intliziyo kufuneka isebenze nzima ukuze ipompe igazi ngokukhawuleza kwaye inike umzimba ioksijini efunekayo. |
| Ubunzima bokuphefumla | Ngamanye amaxesha, njengokuba ndihamba umgama omfutshane okanye ndinyuka izinyuko, ndikufumanisa kunzima ukuphefumla, kwaye ndiziva ngathi ndiyakrwitshwa. |
| Umnqweno wokutya | Ingakumbi abantwana abancinci abangenamdla kangako ekutyeni. |
| Intloko ebuhlungu kunye nobuthathaka | Ingxaki eqhelekileyo ebangelwa kukungabikho komoya-mpilo owaneleyo emzimbeni nasengqondweni. |
Kutheni olu hlobo lwesifo lusenzeka? Yintoni unobangela?
Njengoko besitshilo ngaphambili, esi sisifo semfuza. Kukho ii-gene ezithile emzimbeni wethu ezisiyalela ukuba senze iiseli ezibomvu zegazi. Zibizwa ngokuba yi-`(ribosomal protein genes)`. Umntu one-DBA unenguqu okanye utshintsho kwezi jeni. Ngenxa yoko, inkqubo yokwenza iiseli ezibomvu zegazi ayisebenzi kakuhle.
Into ebalulekileyo kukuba inokudluliselwa ukusuka kubazali ukuya ebantwaneni. Kodwa oku kwenzeka kuphela ngepesenti encinci, malunga ne-10% - 25%. Kwiimeko ezininzi, umntwana unokuba nale meko nokuba akukho mntu kusapho lwakhe onesifo, ngenxa yotshintsho olungaqhelekanga lwemfuza.
Ziziphi ezinye iingxaki ezinokwenzeka ngenxa ye-DBA?
I-DBA ayichaphazeli iiseli ezibomvu zegazi kuphela. Ngamanye amaxesha inokubangela nezinye iingxaki zempilo. Kwakhona, abantu abane-DBA banomngcipheko ophezulu kancinci wokufumana iintlobo ezithile zomhlaza kunabantu ngokubanzi.
| Uhlobo lwengxaki | Inkcazo |
|---|---|
| Iingxaki eziqhelekileyo | |
| Iziphene zokuzalwa | Kusenokuba kukho iingxaki ezithile ngentliziyo, izintso, okanye amalungu omzimba. |
| Ukukhula kuyawohloka | Ukukhula komzimba kuhamba kancinci kunokuba bekulindelwe xa umntu ekhula. |
| Ukugqithisa isinyithi | Ukunikela ngegazi rhoqo kunokubangela ukuba amanqanaba e-iron emzimbeni anyuke ngokungeyomfuneko, nto leyo eyonakalisa amalungu omzimba afana nentliziyo nesibindi. |
| Ukuncipha kwezinye iiseli zegazi | Ngamanye amaxesha ezinye iiseli zegazi, ezifana neeseli ezimhlophe zegazi (i-neutropenia) okanye iiplatelets (i-thrombocytopenia), nazo zinokuba phantsi. |
| Umngcipheko womhlaza (uphezulu kancinci) | |
| I-Leukemia | Ingakumbi uhlobo lomhlaza wegazi olubizwa ngokuba yi-``Acute myeloid leukemia - AML```. |
| Isifo seMyelodysplastic (MDS) | Esinye isifo segazi esiphazamisa ukusebenza kakuhle komongo wethambo. |
| I-Osteosarcoma | Imeko yomhlaza eyenzeka emathanjeni. |
Oogqirha bayixilonga njani ngokuchanekileyo le sifo?
Ukuba umntwana wakho unezi mpawu, ugqirha wakho uza kuqala amhlole ngononophelo aze akubuze ngeenkcukacha. Emva koko, banokwenza uvavanyo oluthile ukuqinisekisa ukuba unesifo.
- Ubalo lwegazi olupheleleyo (CBC): Olu lulinganisa inani leeseli ezibomvu zegazi, iiseli ezimhlophe zegazi, kunye neeplatelets egazini. Umntu one-DBA unenani eliphantsi kakhulu leeseli ezibomvu zegazi.
- Inani lee-reticulocyte: Ii-reticulocytes ziiseli ezibomvu zegazi ezisandula ukwenziwa ezingakavuthwa ngokupheleleyo. Inani eliphantsi lithetha ukuba umongo wethambo awuvelisi iiseli ezibomvu zegazi ezintsha ngokwaneleyo.
- Ukufunxwa komongo wethambo kunye ne-biopsy: Olu lolona vavanyo luphambili olusetyenziselwa ukuqinisekisa isifo. Kule meko, kuthathwa isampuli encinci kakhulu yomongo wethambo, ngesiqhelo kwithambo lesinqe, phantsi kwe-anesthesia. Emva koko ihlolwa nge-microscope ukuze kuqinisekiswe ukuba ingakanani na imveliso yeeseli ezibomvu zegazi eyenzekayo.
Ziziphi iindlela zonyango ze-DBA?
Nangona i-DBA ingenakunyangwa ngokupheleleyo, kukho unyango olusebenzayo olunokunceda ukulawula iimpawu nokugcina umgangatho wobomi ulungile.
1. IiCorticosteroids: La mayeza avuselela umongo wethambo ukuba uvelise iiseli ezibomvu zegazi ezingaphezulu. Olu nyango luphumelele kwizigulana ezininzi.
2. Utofelo-gazi: Abantu abanegazi eliphantsi kakhulu banikwa iiseli ezibomvu zegazi ezivela kumntu ophilileyo. Oogqirha bangaqala olu nyango kwangoko nje ukuba isifo sifunyenwe. Oku kunika isiqabu ngokukhawuleza kwiimpawu.
3. Ukufakelwa kweeseli ze-stem: Olu lolona nyango lunokunyanga ngokupheleleyo i-DBA. Nangona kunjalo, olu lunyango olunzima kakhulu nolunobungozi. Kule meko, iiseli ze-stem ezivela kumongo wethambo lomntu ophilileyo (ngokuqhelekileyo ilungu losapho) zifakwa kwisigulana. Oku akunakwenzeka kuwo wonke umntu. Ugqirha uhlola imeko yesigulana kakuhle, afumane eyona ifanelekileyo, aze enze esi sigqibo emva kokucingisisa kakhulu.
Yintoni omawuyenze xa kukho imeko engxamisekileyo?
Ukuba wena okanye umntwana wakho une-DBA, kubaluleke kakhulu ukuhlala unxibelelana rhoqo nogqirha wakho. Kubalulekile ukugcina idinga kunye nokuthatha amayeza akho njengoko kuyalelwe. Ukuba iimpawu zakho ziba mandundu (umzekelo, udiniwe kakhulu kunesiqhelo, ufumana usulelo oluninzi), xelela ugqirha wakho ngoko nangoko.
Kwakhona, ukuba ufumana naziphi na iimpawu zongxamiseko ezilandelayo, yiya kwiYunithi yoNyango oluNgxamisekileyo (ETU) yesibhedlele esikufutshane ngoko nangoko .
- Intlungu ebuhlungu esifubeni
- Intlungu ebuhlungu yesisu ngequbuliso
- Intloko ebuhlungu ngequbuliso, ukudideka, okanye ubunzima bokuthetha (ezi zisenokuba ziimpawu zestroke)
- Ukopha okungalawulekiyo
Ukuphila nemeko engaqhelekanga nehlala ixesha elide efana ne-DBA, ingakumbi ukuba ngumntwana wakho, kunokuba nzima kakhulu. Kungaziva unesizungu. Kodwa khumbula, awuwedwa. Ugqirha wakho kunye neqela lezonyango baya kukunika inkxaso kunye nolwalathiso olufunayo.
Umyalezo Wokuya Ekhaya
- I-Diamond-Blackfan anemia (DBA) sisifo esingaqhelekanga semfuza esithintela umongo wethambo ukuba ungenzi iiseli ezibomvu zegazi ezaneleyo.
- Ukudinwa rhoqo, ukuba mdaka, kunye nokuphefumla kancinci zezona mpawu ziphambili.
- Nangona le yimeko ehlala ubomi bonke, inokulawulwa ngempumelelo ngonyango olufana namayeza e-steroid kunye notofelo-gazi.
- Kubalulekile ukuhlala unxibelelana rhoqo nogqirha wakho kwaye ufumane uvavanyo kunye nonyango olufanelekileyo.
- Qaphela iimpawu zesilumkiso esingxamisekileyo (ezifana neentlungu eziqatha esifubeni, ukulahlekelwa yingqondo) kwaye uye kwiYunithi yoNyango oluNgxamisekileyo (ETU) yesibhedlele ngoko nangoko kwimeko enjalo.
- Nokuba uziva unesizungu kuba esi sisifo esingaqhelekanga, khumbula ukuba kukho amaqela ezonyango kunye neenethiwekhi zenkxaso zokukuxhasa.
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