Incazelo:
I-Diamond Blackfan Anemia (i-DBA) i- anemia ezuzwe njengefa lapho umnto wethambo ungeke ukwazi ukwenza amanani amangqamuzana egazi obomvu (okuthiwa i-red cell aplasia ehlanzekile). Iyingxenye yeqembu elikhudlwana lezinkinga ezibizwa ngokuthi ama-syndromes we-bone marrow failure.
Yiziphi izici ze-DBA?
Cishe zonke iziguli zitholwa ngonyaka wokuqala wokuphila.
- I-anemia: I-anemia ye-DBA inzima futhi ngokuvamile idinga ukumpontshelwa igazi okuningi.
- Amaphutha okuzalwa: Kuze kube yingxenye yeziguli ezine-DBA nazo zinezinto ezingavamile ngokomzimba. Izindawo zomzimba ezithintekayo kakhulu yizi:
- Inhloko, intamo, nobuso
- Inhliziyo
- Izindwangu
- Izinhlelo zokubeletha nezomchamo
- Isiqu esifushane
- Ingozi eyingozi yomdlavuza: Abantu abane-DBA kubonakala benengozi yokukhula komdlavuza. Lezi zibandakanya i-myeloid leukemia (AML), i-myelodysplastic syndromes (MDS), kanye nezicubu eziqinile.
Yini ebangela i-DBA?
I-DBA i-syndrome yokuhluleka komnyofu wefa. Cishe isigamu samacala asho ukuthi umndeni usho ukuthini ukuguquka kwezakhi zofuzo okwenziwe ngumzali. Amanye amacala ahamba kancane, okwenzeka ngokungahleliwe. Ngamafomu omndeni, akuwona wonke amalungu omndeni athathwe ngendlela efanayo. Umzali angase abe nokuguqulwa okuhlobene ne-DBA kodwa angatholakali kuze kube yilapho ingane yakhe itholakele.
Wonke amangqamuzana emzimbeni anesimo esithile sokuphila bese eshona ekufeni kweseli ngaphansi kwenqubo elawulwa kakhulu.
E-DBA ukuguquguquka kwezakhi zofuzo kubangela ukuthi amangqamuzana amancane (enze amangqamuzana abomvu wegazi kanye namaseli obomvu okuqala emnkantsheni) ukuze azibhubhise ngokushesha kunalokho okufanele aholele ekunciphiseni ukukhiqizwa kwamaseli abomvu abomvu.
I-DBA ihlolwe kanjani?
Inani eliphelele legazi (i-CBC) likhomba i-anemia futhi lembula elikhudlwana kunamaseli egazi abomvu ajwayelekile (macrocytosis).
Ngokuvamile i-anemia ihlukanisiwe ngaphandle kokushintshwa kwegazi elimhlophe noma inani leplatelet. Ukubalwa kwe-reticulocyte kuphansi (i-reticulocytopenia) ngoba umnkantsha wesitembu awukwazi ukukhokhela le nemia.
I-DBA kumele ihlukaniswe kusukela ku- erythroblastopenia yangasese yobuntwana (i-TEC) engabonakala eqenjini elifanayo kodwa ixazulula ngokuzenzekelayo. Ngokuyinhloko izinga le-hemoglobin fetal ne-erythrocyte adenosine deaminase level ngokuvamile liphakanyiswe ku-DBA kepha hhayi ku-TEC.
Uma umuntu ecatshangwa ukuthi une-DBA, ukuhlolwa kofuzo kufanele kuthunyelwe. Uma ukuguqulwa kwezakhi zofuzo kubonakala, amanye amalungu omndeni kufanele ahlolwe anikezwa ingozi yokwanda komdlavuza.
Ngezinye izikhathi i-aspirate ne-biopsy yomsongo wamathambo yenziwa ukuze ihlolwe imvelo lapho amangqamuzana egazi abomvu enza khona. Umnkantsha wamathambo ngokuvamile uvamile ngaphandle kokuntuleka kwegazi elibomvu lamasosha omzimba (amangqamuzana okuqala aqala ukuba amangqamuzana egazi abomvu).
Izinga lokuhlola lokujwayelekile liyi:
- Ubudala obungaphansi konyaka owodwa
- I-macrocytic (ekulu kunayo evamile) i-anemia ngaphandle kokushintshwa kumhlophe omhlophe wegazi noma isibalo seplatelet
- Reticulocytopenia
- Umqhele wamathambo ovamile ngaphandle kokuntuleka kwama-precursor cell cell
Uma isiguli sikholelwa ukuthi sibe ne-DBA kepha ayihlangabezani nalesi simo sokuhlonza, kunezinqubo eziyisibili ezingase zisekele ukuxilongwa okunokwenzeka.
Yiziphi izindlela zokwelashwa kwe-DBA?
Nakuba iziguli eziningi zidinga ukwelashwa iziguli ezingama-25% zizokwazi ukuxazulula ngokuzenzekelayo.
- Ukuguqulwa kwegazi: I-anemia ye-DBA inkulu futhi idinga ukumpontshelwa igazi njalo. Lena yindlela yokwelashwa eyinhloko kuze kube ephephile ukuqala i-steroids.
- I-Corticosteroids: I-steroids yomlomo njenge-prednisone / prednisolone yi-backbone yezokwelapha izingane ezine-DBA. Ama-steroid aqala futhi anqunywa kumthamo ophansi kakhulu okudingeka uqede isidingo sokumpontshelwa. Uma kungekho impendulo, ukumpontshelwa igazi kuvuselelwa kabusha.
- Ukufakelwa kwe-bone lomnkantsha : Ukufakelwa komnyosa we-bone kungaba ukwelapha. Imiphumela emihle ivela kubanikezeli abathandana nabo abalingani. Abanikazi beSiblings kumele bahlole ukuhlolwa kofuzo ukuqinisekisa ukuthi akanalo uhlobo oluthile lwe-DBA.