Ininzi kakhulu ichaphazela iintsana
Kwi-Blackfan Diamond (okanye i-Diamond Blackfan) i-anemia, umnyoba womzimba womzimba uvelisa amancinci egazi abomvu okanye angenayo. I-Blackfan Diamond i-anemia ithinta abantu abangama-600 ukuya kuma-700 emhlabeni jikelele. Isizathu salo asiyazi, nangona iiphene zofuzo kwi-gene ebizwa ngokuthi i-RPS19 kwi-chromosome 19 idibene ne-25% yamatyala. Kwi-10% ukuya kwi-20% yamatyala, kukho imbali yentsapho yengxaki.
Iimpawu
I-anemia ye-Blackfan Diamond ikhona ngexesha lokuzalwa kodwa kunokuba nzima ukuyiqonda. Kwi-third-thirds of children born of disorder, kukho iziphene eziphathekayo ezifana nokukhubazeka kwesandla okanye ukukhubazeka kweentliziyo, kodwa iisethi zeempawu ezingacacanga azichongiwe. Iimpawu zingaphinde zihluke kakhulu, ukususela kumncinci kuya kunzima kwaye zisongela ubomi.
Iiseli zegazi ezibomvu zithwala i-oksijini kuwo wonke umzimba, ngoko umntwana onomnyama we-Diamond unokufumana iimpawu ezinxulumene negazi okwaneleyo (i-anemia):
- iphosa (i-paleness)
- intliziyo engavumelekanga, ngenxa yentliziyo ezama ukugcina i-oksijini ehamba kuwo wonke umzimba
- ukukhathala, ukucaphuka, kunye nokuphelelwa amandla .
Ukuxilongwa
I-Blackfan Diamond i-anemia ivame ukufunyaniswa kwisithuba seminyaka emibini yokuqala yobomi, ngamanye amaxesha nakwixesha lokuzalwa, ngokusekelwe kwiimpawu. Ngokomzekelo, umntwana usenokukrokrelwa ukuba une-anemia ukuba uhlala ephaphaze kwaye uphefumula xa ephuza ibhotile okanye unesi.
Abazali bahlala becinga ukuba kukho "into engalunganga" nomntwana wabo. Ukuxilongwa kwe-Blackfan Diamond i-anemia, ngokukodwa, inokuthi ingabonwa ngokukhawuleza, kuba ingxaki leyo ayinqabile kakhulu kwaye ambalwa oogqirha ayaziyo.
Inani elipheleleyo leeseli zegazi (CBC) lomntwana luya kubonisa inombolo ephantsi kakhulu yamaseli obomvu kunye ne-hemoglobin ephantsi.
Olunye uvavanyo lwegazi luya kubonisa umsebenzi ophezulu we-adenosine deaminase (ADA). Isampula somnatha wethambo (i-biopsy) iya kubonisa ukuba kwakhiwa iiseli zegazi ezibomvu ezimbalwa.
Unyango
Umgca wokuqala wonyango kwi-Blackfan Diamond ye-anemia ukunika umntwana imithi ye-steroid, ngokuqhelekileyo i-prednisone. Phantse i-70% yabantwana abane-anemia ye-Blackfan Diamond bayakuphendula kule nyango, apho iyeza likhuthaza ukuveliswa kwamaseli obomvu athile. Nangona kunjalo, oku kuthetha ukuba umntwana uya kufuneka athathe imithi ye-steroid bonke ubomi bakhe, obunemiphumo emibi efana nesifo sikashukela , i- glaucoma , ithambo lokuncipha (i- osteopenia ), kunye negazi eliphezulu . Kwakhona, amayeza anokuyeka ngokukhawuleza ukusebenza kumntu kunini na.
Ukuba umntu angaphenduli kwiyeza le-steroid okanye iimfuno eziphezulu kakhulu kwi dose ukugcina iseli lakhe elibomvu legazi linyuka, unyango luba ngegazi. Ukumpontshelwa igazi rhoqo kuza kunika iiseli ezibomvu zegazi kodwa kwakhona kukhokelela kwinsimbi eninzi emzimbeni . Ngokuqhelekileyo, umzimba usetyenziswa isinyithi xa wenza amatsha omzimba obomvu, kodwa ekubeni umntu onomdlavuza we-Blackfan Diamond engenzi iiseli ezininzi, isinyithi siyakha. Umntu ngoko kufuneka athathe amachiza athabatha insimbi engaphezu kweyodwa emzimbeni.
Ukuphela kwonyango etholakalayo kwi-Blackfan Diamond ye-anemia yintsipho yokutsalwa komongo , okwenza indawo yomnxeba ongenalungileyo yomnxeba ngomncedi onempilo. Nangona kunjalo, ukufakelwa kwenkqubo yinkqubo enzima ukuhamba kwaye ayisoloko isebenza. Ngokuqhelekileyo kubanjelwe abantu abafumana imithi ye-steroid kunye nokunyelwa igazi akuncedi.
> Imithombo:
> Guinan, EC. "Uxilongo kunye noLawulo lwe-Aplastic anemia." I-ASH Book Book , ngo-2011, 76-81.
> I-National Organisation for Disorder Disorders. "I-Blackfan Diamond Anemia." Index of the Rare Diseases, 2008.
> I-UK Diamond Blackfan Iqela leNkxaso yeAnemia. "Yintoni i-Diamond Blackfan Anemia?" 2008.