Inkcazo:
I-Diamond Blackfan i-Anemia (DBA) yi- anemia ezuze ilifa apho umongo wethambo awukwazi ukwenza inani elaneleyo lamaseli egazi abomvu (ebizwa ngokuba yi-red cell cell aplasia). Inxalenye yeqela elikhulu leengxaki ezibizwa ngokuba yi-syndromes yokuhluleka komnxeba.
Ziziphi iimpawu zeDBA?
Phantse zonke izigulane zifumaneka kunyaka wokuqala wobomi.
- I-Anemia: I-anemia ye-DBA yomelele kwaye idla ngokudinga igazi.
- Iingxaki zokuzalwa: Ukufikelela kwisiqingatha sezigulane ezine-DBA nazo zinezinto eziphene. Imimandla yomzimba echaphazeleka kakhulu yile:
- Intloko, intamo kunye nobuso
- Intliziyo
- Iingqimba
- Iinkqubo zesini kunye nezisisu
- Isiqu esifutshane
- Ukwanda komngcipheko wesifo somhlaza: Abantu abane-DBA kubonakala benomngcipheko okhulayo womhlaza. Ezi ziquka i-leememiaid leyemiaid (AML), i-myelodysplastic syndromes (MDS), kunye nezicubu ezinamandla.
Yintoni eyenza iDBA?
I-DBA yintlupheko yesifo somnxeba wefa. Phantse isiqingatha seemeko ziintsingiselo zentsapho ukuguqulwa kofuzo kwadluliselwa ngumzali. Ezinye iimeko zihamba ngokukhawuleza, zenzeke ngokungaqhelekanga. Kwiifom zentsapho, kungekhona onke amalungu entsapho achaphazelekayo ngokufanayo. Umzali unokufumana utshintsho oluhambelana ne-DBA kodwa angafumaneki ukuba emva kokuba umntwana wakhe ufumaneke.
Zonke iiseli zomzimba zinexesha elithile lokuphila kwaye zingaphantsi kokufa kweeseli phantsi kwenkqubo elawulwa kakhulu.
Kwi-DBA ukuguquka kwemfuyo kubangela ukuba iisundu zegazi (yenza amangqombela egazi abomvu kunye namaseli obomvu okuqala emlonyeni) ukuba zibhubhise ngokukhawuleza kunokuba zifanele zikhokelela ekunciphiseni ukuveliswa kweeseli ezibomvu zegazi.
I-DBA ixilongwa njani?
Inani elipheleleyo legazi (i-CBC) lichonga i-anemia kwaye libonisa ezinkulu kuneeseli ezibomvu zegazi (macrocytosis).
Ngokuqhelekileyo i-anemia iyahlukana ngaphandle kweenguqu kwi-white cell cell or countlet count. Ukubalwa kweReticulocyte kuphantsi (i-reticulocytopenia) ngenxa yokuba umongo wethambo awukwazi ukuhlawulela le nzala.
I-DBA kufuneka ihluke kwi- erythroblastopenia yangaphantsi yobuntwaneni (TEC) engabonakalisa kwiqela elifanayo kodwa ixazulula ngokukhawuleza. Ngokukodwa izinga le-hemoglobin fetal kunye ne-erythrocyte adenosine deaminase nqanaba zivame ukuphakanyiswa kwi-DBA kodwa kungekhona kwi-TEC.
Ukuba umntu uxoliswa ukuba abe ne-DBA, ukuhlolwa kofuzo kufuneka kuthunyelwe. Ukuba ukuchithwa kwemfuyo kuchongiwe, amanye amalungu entsapho kufuneka ahlolwe yanikwa ingozi yomhlaza.
Ngamanye amaxesha i-aspirate yamathambo kunye ne-biopsy eyenziwa ukuhlola indawo apho iiseli zegazi ezibomvu zenziwe khona. Umnatha wethambo uqhelekile ngaphandle kokungabikho kweebomvu zegazi ezibomvu (iiseli zokuqala eziba ngamaseli obomvu).
Imilinganiselo yokuxilonga ngokuqhelekileyo yile:
- Umdala ongaphantsi kwe-1 unyaka
- I-macrocytic (enkulu kuneyona evamile) i-anemia ngaphandle kokutshintsha kwiseli yamhlophe yegazi okanye isibalo seplatelet
- Reticulocytopenia
- Umongo weThambo oqhelekileyo ngaphandle kokungabikho kwe-red cellers precursors
Ukuba isigulane sityholwa ukuba sibe ne-DBA kodwa ayihlangabezane nale nkqubo yokuxilonga, kukho imigaqo-nkqubo yesibini ekwazi ukuxhasa ukuxilongwa.
Ziyintoni na unyango lwe-DBA?
Nangona ezininzi izigulana zifuna unyango ukuya kwi-25% yezigulane ziza kuba nesisombululo esisodwa.
- Ukutshintshwa: Ukukhulelwa kwegazi kwe-DBA kunzima kwaye kufuna ukunyelwa igazi rhoqo. Le yonyango lokuqala kukukhuselekile ukuqala i-steroids.
- I-Corticosteroids: I-oral steroids njenge-prednisone / prednisolone yi-backbone yonyango kubantwana abane-DBA. I-Steroids iqalisiwe kwaye ixilwe kwi dose ephantsi kakhulu efunekayo ekupheliseni isidingo sokumpontshelwa. Ukuba akukho mpendulo, ukumpontshelwa igazi kuyabuyiselwa kwakhona.
- Umtsalane wokuguqulwa komnyo : I-bone marrow transplantation ingaba yonyango. Iziphumo ezigqwesileyo zivela kubaxhasi abazalwana abalinganayo. Abaxhasi be-Sibling kufuneka bafumane ukuhlolwa kofuzo ukuqinisekisa ukuba akanalo uhlobo olubi lwe-DBA.