Fanconi Anemia inowanikwa nhaka isati yawana nhaka marrow failure syndrome inoratidzwa ne pancytopenia (pasi masero masero eropa, masero matsvuku eropa, uye maplatelets) uye kusagadzikana kwepanyama. Kuwanda kwakanyanya muAshkenazi vaJudha, Roma vanhu veSpain, uye vanhu vemaSouth Africa vemavara. Hazvifanirwe kuvhiringidzwa neFanconi's syndrome, chirwere chetsvo. Vakawanda varwere vanoonekwa kuti vasati vava nemakore gumi.
Zviratidzo nezviratidzo zveFanconi Anemia
Vanopfuura 50% vavarwere vane uwandu hwepanyama. Izvi zvinogona kusanganisira:
- Ganda rinoshanduka - hutachiona huripo (chiedza kupfuura ganda rakapoteredza) kana café-au-lait mavara
- Short stature
- Chimbiso chisina kunaka
- Ubongo husina kuchena - hukuru hwemusoro, huwandu hwehutachiona huri muuropi
- Hutsvo dzisina kunaka kana dzakaipa
- Zvisizvo zvemajini
- Kukurumidza kunonoka
Sezvo ropa reyero rinodonha doro, zviratidzo zvepancytopenia zvinogona kukura.
- Kuwedzera kuputika kana kubuda ropa (low platlet count kana thrombocytopenia )
- Kuneta, ganda rinopera ( anemia )
- Fever, zvirwere (low white count kana neutropenia )
Kuongororwa kwekenza kunogona kuva yekutanga kuratidza. Vanhu vane Fanconi Anemia vari mungozi yakawanda yekuvandudza:
- Acute Myeloid Leukemia
- Myelodysplastic syndrome
- Musoro nemutsipa makondombera
- Uturu hwebongo
- Wilms tumor (kenza yenguruve)
- Gestrointestinal (GI) kanzira)
- Vulvar uye kenza yemuviri
Kuziva
Iyo nzira yekuongororwa inogona kuva inononoka, sezvo mharidzo inowanzochinja nguva.
A low platelet count inowanzova chiratidzo chokutanga chematambudziko. Zvadaro pakufamba kwenguva, sero rega rega rega rinoderera nekutevedzwa neanemia. Inemia inorondedzerwa se macrocytic zvinoreva kuti masero matsvuku eropa akawandisa kupfuura ose. Izvi zvinowanikwa ma laboratori zvakabatanidzwa nekusaremara kwepanyama zvakakurukurwa pamusoro apa zvinoreva Fanconi Anemia.
Varwere vane Fanconi Anemia vanewo mungozi yakawanda yekuva nekenza. Kanzera inouya panguva isingaenzaniswi inogona kuva yekutanga kuratidza mune vamwe varwere. Uyewo, inogona kutorwa kana mamamiriyoni emhuri yemhuri imwe chete ichiva nekenza.
Apo Fanconi Anemia inenge ichifungidzirwa, ropa rinotumirwa kuongororwa kwebhishopi chaiyo inonzi chromosomal breakage. Chiremera chinonzi Fanconi Anemia chinodzivirira ma chromosomes kubva mukukwanisa kuzvigadzirisa zvakanaka zvichiita kukanganisa kwemafupa uye kenza pazera remakore. Kana chirwere chechiromosomal breakage chinowirirana neFanconi Anemia, kuongorora mazita evanhu anogonawo kutumirwa. Mukuwedzera pakusimbisa kuongororwa, ruzivo urwu runobvumira kupa mhuri ruzivo rwezvemungozi yekuva nevana vakawanda vane chirwere ichi.
Nhaka
Fanconi Anemia inowanzopwa muchitarisiko chezvinyorwa zvepamusoro. Izvi zvinoreva kuti vose vaviri vabereki vanofanira kutakura mwana wavo kuti ave nechirwere ichi. Muchiitiko ichi, vabereki vose vari vatakuri uye vane 1 mu4 mukana wokuva nevana neFanconi Anemia. Kunyanya kazhinji, inodarika mumutambo we-X unobatanidza zvinoreva kuchinja kwechimiro chiri pa X chromosome. Muchiitiko ichi, amai vanogona kudarika chirwere ichi kuvana vavo.
Mishonga
Kufuridzirwa: Ropa rega rega neropa replatelet rinoshandiswa kuzadza nekugovera sezvo mafuta emarara asingakwanisi kubudisa zviyero zvakakwana. Kushandiswa kunoshandiswa kudzivirira zviratidzo zveanemia (kuneta, kuneta) kana thrombocytopenia (kubuda ropa).
Oxymetholone: Oxymetholone is oral anabolic steroid inogona kushandiswa kuvandudza ropa masero. Izvi zvinowanzoshandiswa kune varwere vasina vana vomunin'ina vanogona kuve mapfupa ekupa mari.
Tsvina yemafuta kuendeswa kwemuviri: Bone marrow transplantation inogona kurwisa pancytopenia, asi haisi kuderedza upenyu hwehupenyu hwose hwekenza. Zvibereko zvakanakisisa zvinowanikwa kana zvakaenzana vana vehama vanogona kuva vapei.
> Kwakabva:
> Bertuch A. Inherited aplastic anemia muvana nevechiri kuyaruka. Mu: UpToDate, Post, TW (Ed), UpToDate, Waltham, MA, 2016.