Aase chirwere

Aase syndrome chirwere chisingawanzo chinosanganisira kupererwa neropa uye kumwe kuwirirana uye kwemapfupa.

Zviitiko zvakawanda zveAase syndrome zvinoitika pasina chikonzero chinozivikanwa uye hazvipfuurirwe kuburikidza nemhuri (nhaka). Nekudaro, zvimwe zviitiko (45%) zvakaratidzirwa kuve zvakagarwa nhaka.Izvi zvinokonzerwa nekushandurwa kwema1 emakumi mageneti akakosha mukugadzira mapuroteni nenzira kwayo (majini anogadzira ribosomal protein).

Aya mamiriro akafanana neDiamondi-Blackfan anemia, uye iwo maviri mamiriro haafanire kupatsanurwa. Chikamu chisipo pane chromosome 19 inowanikwa mune vamwe vanhu vane Diamond-Blackfan anemia.

Iyo anemia muAase syndrome inokonzerwa nekukura kwakashata kwemongo wemapfupa, ndipo panogadzirwa masero eropa.

Zviratidzo zvinogona kusanganisira:

• Asipo kana madiki madonhwe
• Yakachena muromo
• Nzeve dzakaremara
• Droopy eyelids
• Kusakwanisa kuwedzera zvizere majoini kubva pakuberekwa
• Mapfudzi mapfupi
• Ganda rakachenuruka
• Zvigunwe zvakabatanidzwa katatu

Anopa hutano anoita bvunzo dzepanyama. Miedzo inogona kuitwa inosanganisira:

• Bone marora bhiopsy
• Yakazara kuverenga ropa (CBC)
• Echocardiogram
• X-ray

Kurapa kunogona kusanganisira kuwedzerwa ropa mugore rekutanga rehupenyu kurapa kupererwa neropa.

Mushonga we steroid unonzi prednisone wakashandiswawo kurapa kupererwa neropa kwakabatana neAase syndrome. Nekudaro, iyo inongofanirwa kushandiswa mushure mekuongorora mabhenefiti uye njodzi nemupi anopa ruzivo rwekurapa anemias.

Kuiswa kwemongo wemapfupa kunogona kudiwa kana kumwe kurapwa kuchikundikana.

Iyo anemia inowanzo kuvandudza nezera.

Matambudziko ane hukama neanemia anosanganisira:

• Kuneta
• Yakaderedza okisijeni muropa
• Kushaya simba

Zvinetso zvemwoyo zvinogona kutungamira kune akasiyana matambudziko, zvinoenderana neicho chakakanganisika.

Zviitiko zvakakomba zveAase syndrome zvakabatana nekuzvara mwana kana kufa kwekutanga.

Genetic counselling inokurudzirwa kana iwe uine nhoroondo yemhuri yeiyi syndrome uye uchida kuve nepamuviri.

Aase-Smith chirwere; Hypoplastic anemia - triphalangeal zvigunwe, Aase-Smith mhando; Diamond-Blackfan ine AS-II

Clinton C, Gazda HT. Diamond-Blackfan kupererwa neropa. GeneReviews. 2014: 9. PMID: 20301769 www.ncbi.nlm.nih.gov/pubmed/20301769. Yakagadziridzwa Kurume 7, 2019. Yakasvika muna Chikunguru 31, 2019.

Gallagher PG. Iyo neonatal erythrocyte uye kusagadzikana kwayo. Mune: Orkin SH, Fisher DE, Ginsburg D, Tarisa AT, Lux SE, Nathan DG, eds. Natani naOski Hematology uye Oncology yehucheche nehucheche. 8th ed. Philadelphia, PA: Elsevier Saunders; 2015: chits. 2.

Thornburg CD. Kuberekwa hypoplastic anemia (Diamond-Blackfan anemia). Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chap 475.