Ọrịa Aase

Ọrịa Aase bụ nsogbu na-adịghị ahụkebe nke metụtara anemia na ụfọdụ nkwonkwo nkwonkwo na ọkpụkpụ.

Ọtụtụ nsogbu nke ọrịa Aase na-eme na-enweghị ihe kpatara kpatara ma anaghị agafe ezinụlọ (ketara). Agbanyeghị, ụfọdụ egosila (45%) ketara eketa.Ndị a bụ n'ihi mgbanwe nke 1 nke mkpụrụ ndụ ihe nketa 20 dị mkpa maka ịme protein n'ụzọ ziri ezi (mkpụrụ ndụ ihe nketa na-eme protein ribosomal).

Ọnọdụ a dị ka Diamond-Blackfan anaemia, na ọnọdụ abụọ ahụ ekwesịghị ịhapụ. A na-ahụ mpempe na-efu na chromosome 19 na ụfọdụ ndị nwere Diamond-Blackfan anaemia.

Anaemia na Aase syndrome na-akpata site na mmepe na-adịghị mma nke ụmị ọkpụkpụ, nke bụ ebe a na-emepụta mkpụrụ ndụ ọbara.

Mgbaàmà nwere ike ịgụnye:

• Enweghị ma ọ bụ obere mkpịsị aka
• N'okpo okwu
• Ntị adịghị mma
• Nkpuchi anya gị
• Enweghi ike ịgbatị nkwonkwo site na ịmụ nwa
• Warara ubu
• Icha akpụkpọ
• Isi mkpịsị aka atọ

Onye nlekọta ahụike ga-eme nyocha anụ ahụ. Ule nke enwere ike ime gunyere:

• Ọkpụkpụ ụmị biopsy
• Ọnụọgụ ọbara zuru ezu (CBC)
• Ihe omumu
• X-ụzarị

Ọgwụgwọ nwere ike ịgụnye mmịnye ọbara n'afọ mbụ nke ndụ iji gwọ ọrịa anaemia.

Ejirila ọgwụ ogwu akpọrọ prednisone maka ịgwọ ọrịa anaemia metụtara ọrịa Aase. Agbanyeghị, ekwesịrị iji ya naanị mgbe ị nyochachara uru na ihe egwu dị na ya site n'aka onye na-eweta ọrụ nwere ahụmịhe anemia.

Ọkpụkpụ ụmị ọkpụkpụ nwere ike ịdị mkpa ma ọ bụrụ na ọgwụgwọ ọzọ ada ada.

Ọbara ana-achọ imeziwanye na afọ.

Nsogbu ndị metụtara anaemia gụnyere:

• Ike ọgwụgwụ
• Mbelata nke oxygen n’ime ọbara
• Adịghị ike

Nsogbu obi nwere ike ibute nsogbu dị iche iche, dabere na ntụpọ ahụ akọwapụtara.

Ejikọtara ajọ ikpe nke ọrịa Aase na ịmụ nwa ma ọ bụ ọnwụ mbido.

A na-atụ aro ndụmọdụ gbasara mkpụrụ ndụ ihe nketa ma ọ bụrụ na ị nwere akụkọ gbasara ezinụlọ banyere ọrịa a ma chọọ ịtụrụ ime.

Ọrịa Aase-Smith; Hypoplastic anaemia - mkpịsị aka triphalangeal, ụdị Aase-Smith; Diamond-Blackfan nwere AS-II

Clinton C, Gazda HT. Diamond-Blackfan anaemia. GeneRelee. 2014: 9. PMID: 20301769 www.ncbi.nlm.nih.gov/pubmed/20301769. Emelitere March 7, 2019. Nabata July 31, 2019.

Gallagher PG. Neonatal erythrocyte na nsogbu ya. Na: Orkin SH, Fisher DE, Ginsburg D, Lee AT, Lux SE, Nathan DG, eds. Nathan na Oski Hematology na Oncology nke Nwa na nwata. 8th ed. Philadelphia, PA: Elsevier Saunders; 2015: isi 2.

Thornburg CD. Ọrịa anaemia hypoplastic (Diamond-Blackfan anaemia). Na: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Akwụkwọ ọgụgụ nke Ọrịa edimụaka. 21nke. Philadelphia, PA: Elsevier; 2020: isi 475.