Okuvamile Ngokuthinta Izinsana
E-Blackfan Diamond (noma i-Diamond Blackfan) i-anemia, umthambo womzimba womzimba ukhiqiza amancane amangqamuzana abomvu noma angabomvu. I-Blackfan Diamond anemia ithinta abantu abangaba ngu-600 kuya ku-700 emhlabeni wonke. Isizathu saso asiyazi, nakuba isiphambeko sofuzo esakhiweni esibizwa nge-RPS19 kuma-chromosome 19 sihlobene namacala angu-25%. Ezingamaphesenti angu-10 ukuya kwangu-20%, kunomlando womndeni wesifo.
Izimpawu
I-Blackfan Diamond i-anemia ikhona lapho izalwa kodwa ingaba nzima ukubona. Cishe ingxenye eyodwa kwezintathu zezingane ezizalwa ne-disorder, zikhona iziphambeko ezingokwenyama ezifana nokukhubazeka kwesandla noma ukukhubazeka kwenhliziyo, kodwa isethi esicacile sezimpawu asikatholakali. Izimpawu zingase zishintshe kakhulu, kusukela emnene kuze kube nzima futhi ezisongela ukuphila.
Amangqamuzana egazi elibomvu athatha i-oxygen kuwo wonke umzimba, ngakho ingane ene-Blackfan Diamond ingaba nezimpawu ezihlobene nokungabi negazi okwegazi (i-anemia):
- i-pallor (paleness)
- ukushaya kwenhliziyo okungajwayelekile, ngenxa yenhliziyo ezama ukugcina umoya-mpilo uhamba kuwo wonke umzimba
- ukukhathala, ukucasuka, nokuphelelwa amandla .
Ukuxilongwa
I-Blackfan Diamond i-anemia ivame ukutholakala phakathi neminyaka emibili yokuqala yokuphila, ngezinye izikhathi ngisho nasekuzalweni, ngokusekelwe ezimpawu. Isibonelo, umntwana angase asolwa ukuthi une-anemia uma ehlale ephuzi futhi ephuza umoya lapho ephuza ibhodlela noma ehlengikazi.
Abazali bavame ukusola ukuthi kukhona "into engalungile" nengane yabo. Ukuxilongwa kwe-Blackfan Diamond i-anemia, ikakhulukazi, kungase kungabonakali ngokushesha, ngoba lesi sifo sinqabile kakhulu futhi abambalwa abadokotela bayazijwayele.
Inani eliphelele le-cell cell (CBC) lomntwana lizobonisa inombolo ephansi kakhulu yamaseli abomvu abomvu kanye ne-hemoglobin ephansi.
Olunye uhlolo lwegazi luzobonisa umsebenzi ophezulu we-adenosine deaminase (ADA). Isampula samathambo esithambo (i-biopsy) sizobonisa ukuthi ambalwa amangqamuzana egazi abomvu ayadalwa.
Ukwelapha
Umzila wokuqala wokwelapha i-Blackfan Diamond anemia ukunikeza imithi yengane ye-steroid, ngokuvamile i-prednisone. Abantwana abangaba ngu-70% abane-anemia e-Blackfan Diamond bazophendula kulokhu ukwelashwa, lapho imithi ivuselela ukukhiqizwa kwama-red cells amaningi. Nokho, lokhu kusho ukuthi ingane kuzodingeka ithathe imithi ye-steroid impilo yakhe yonke, enemiphumela emibi kakhulu efana nesifo sikashukela , i- glaucoma , i-bone weakening (i- osteopenia ), nomfutho wegazi ophezulu . Kanti futhi, imithi ingase ivele ivele isebenze lowo muntu nganoma isiphi isikhathi.
Uma umuntu engaphenduli emithini ye-steroid noma izidingo eziphakeme kakhulu ukuze ugcine iseli lakhe elibomvu legazi likhula, ukwelashwa kuba ukumpompela igazi. Ukumpontshelwa igazi njalo kuzonikeza amangqamuzana abomvu egazi kodwa futhi kuholela ensimbi eningi kakhulu emzimbeni . Ngokuvamile, umzimba usebenzisa i-iron uma wenza amasha amangqamuzana egazi abomvu, kodwa kusukela umuntu onomdlavuza we-Blackfan Diamond engenzi amangqamuzana amaningi, insimbi iyakha. Lo muntu udinga ukuphuza imithi ethatha insimbi engaphezu komzimba.
Imithi yokwelapha kuphela etholakalayo i-Blackfan Diamond anemia ingu- transplantation yamathambo , okufaka esikhundleni somnkantsha womuntu ongenalutho ngomnya omuhle. Kodwa-ke, ukufakelwa kwesitshalo kuyinkambinkimbi enzima ukuyisebenzisa futhi akusebenzi ngaso sonke isikhathi. Ngokuvamile kuvunyelwe abantu abadinga imithi ye-steroid kanye nokumpompela igazi akusizi.
> Imithombo:
> Guinan, EC. "Ukuxilongwa Nokuphathwa Kwe-Anemia Ye-Aplastic." I-ASH Book Book , 2011, 76-81.
> Inhlangano Kazwelonke Yezinkinga Ezinzima. "I-Blackfan Diamond Anemia." Index of Izifo Rare, 2008.
> I-Diamond Blackfan i-Anemia Support Group. "Iyini i-Diamond Blackfan Anemia?" 2008.